ASAH1

Summary

ASAH1 (N-acylsphingosine amidohydrolase 1, HGNC:735) is a protein-coding gene on chromosome 8p22, encoding Acid ceramidase (Q13510). Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH.

This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy.

Source: NCBI Gene 427 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ASAH1-related sphingolipidosis (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 9
• Clinical variants (ClinVar): 1,075 total — 68 pathogenic, 55 likely-pathogenic (top 3% of genes corpus-wide)
• GTEx eGene: eQTL in 37 tissues, sQTL in 43 (q < 0.05)
• Phenotypes (HPO): 123
• ChEMBL bioactivity: 1 clinical-phase molecule tested; no curated mechanism-of-action drug
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.44 (unconstrained)
• MANE Select transcript: NM_177924

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:735
Approved symbol	ASAH1
Name	N-acylsphingosine amidohydrolase 1
Location	8p22
Locus type	gene with protein product
Status	Approved
Aliases	AC, PHP32, FLJ21558, ACDase
Ensembl gene	ENSG00000104763
Ensembl biotype	protein_coding
OMIM	613468
Entrez	427

Gene structure

Transcript identifiers

Ensembl transcripts: 74 — 29 protein_coding, 27 nonsense_mediated_decay, 17 retained_intron, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000637790

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 4, TSL 2: 10, TSL 3: 4, TSL 4: 8, TSL 5: 39

ENST00000637790, ENST00000314146, ENST00000381733, ENST00000517409, ENST00000518087, ENST00000518746, ENST00000519468, ENST00000519545, ENST00000520051, ENST00000520781, ENST00000521542, ENST00000523593, ENST00000523744, ENST00000635756, ENST00000635769, ENST00000635944, ENST00000635998, ENST00000636009, ENST00000636033, ENST00000636050, ENST00000636128, ENST00000636160, ENST00000636171, ENST00000636269, ENST00000636299, ENST00000636435, ENST00000636455, ENST00000636494, ENST00000636537, ENST00000636563, ENST00000636577, ENST00000636691, ENST00000636701, ENST00000636715, ENST00000636719, ENST00000636815, ENST00000636823, ENST00000636828, ENST00000636920, ENST00000636997, ENST00000637013, ENST00000637014, ENST00000637095, ENST00000637202, ENST00000637244, ENST00000637343, ENST00000637429, ENST00000637484, ENST00000637528, ENST00000637536, ENST00000637561, ENST00000637603, ENST00000637609, ENST00000637636, ENST00000637638, ENST00000637718, ENST00000637752, ENST00000637792, ENST00000637805, ENST00000637840, ENST00000637857, ENST00000637872, ENST00000637898, ENST00000637922, ENST00000637946, ENST00000637991, ENST00000638028, ENST00000638069, ENST00000961129, ENST00000992435, ENST00001013508, ENST00001083168, ENST00001121982, ENST00001131001

RefSeq mRNA: 4 — MANE Select: NM_177924 NM_001127505, NM_001363743, NM_004315, NM_177924

CCDS: CCDS47813, CCDS6005, CCDS6006, CCDS87583

Canonical transcript exons

ENST00000637790 — 14 exons

Exon	Start	End
ENSE00001296427	18058835	18058891
ENSE00001316023	18059341	18059464
ENSE00003474471	18062279	18062423
ENSE00003485505	18061686	18061740
ENSE00003488563	18075541	18075587
ENSE00003490227	18069792	18069878
ENSE00003497678	18071300	18071390
ENSE00003540193	18067220	18067298
ENSE00003564831	18063185	18063230
ENSE00003575713	18061377	18061458
ENSE00003662942	18064457	18064531
ENSE00003681050	18059572	18059703
ENSE00003799516	18055992	18057623
ENSE00003843873	18083981	18084107

Expression profiles

Bgee: expression breadth ubiquitous, 302 present calls, max score 99.80.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 135.4995 / max 2742.7372, expressed in 1822 samples.

Highest expression (Bgee): heart right ventricle, visceral pleura, pancreatic ductal cell, pigmented layer of retina, retina.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ASAH1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 37 tissues and its splicing (sQTL) in 43 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 80 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Whole Blood	eqtl	8.5e-104	+0.35	8:18069552:G:T
Whole Blood	sqtl	6.6e-88	-0.93	8:18069818:T:C
Skin Sun Exposed Lower leg	sqtl	1.4e-55	-0.84	8:18070125:T:C
Muscle Skeletal	sqtl	2.9e-52	-0.79	8:18070125:T:C
Skin Not Sun Exposed Suprapubic	sqtl	1.5e-50	+0.83	8:18070189:G:T
Esophagus Mucosa	eqtl	3.1e-50	-0.72	8:18083728:C:G
Esophagus Mucosa	sqtl	3.1e-46	-0.81	8:18069785:C:T
Nerve Tibial	sqtl	7.2e-40	-0.79	8:18070007:A:G
Thyroid	eqtl	9.1e-32	-0.26	8:18051464:T:C
Colon Transverse	sqtl	5.8e-28	-0.79	8:18070125:T:C
Stomach	sqtl	3.8e-24	+0.78	8:18069739:A:C
Esophagus Muscularis	sqtl	1.9e-23	-0.72	8:18069497:A:G
Brain Cerebellum	eqtl	1.8e-21	+0.58	8:18063298:A:G
Muscle Skeletal	eqtl	2.9e-20	+0.28	8:18072189:G:T
Esophagus Gastroesophageal Junction	sqtl	5.9e-19	+0.77	8:18072393:A:G
Brain Spinal cord cervical c-1	sqtl	2.3e-16	-1.04	8:18069497:A:G
Minor Salivary Gland	sqtl	5.2e-16	+0.88	8:18073490:A:G
Brain Caudate basal ganglia	sqtl	1.6e-15	-0.83	8:18072393:A:G
Brain Frontal Cortex BA9	sqtl	6.2e-15	-0.83	8:18069785:C:T
Brain Cortex	sqtl	7.0e-15	-0.80	8:18067642:C:T

FANTOM5 promoters

6 alternative TSS:

Promoter ID	TPM avg	Samples expressed
92062	128.5114	1822
92064	3.0687	1430
92060	1.8389	163
92063	1.6235	807
92061	0.2886	86
92059	0.1683	56

Top tissues by expression

showing 100 of 302 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
heart right ventricle	UBERON:0002080	99.80	gold quality
visceral pleura	UBERON:0002401	99.78	gold quality
pancreatic ductal cell	CL:0002079	99.67	gold quality
pigmented layer of retina	UBERON:0001782	99.64	gold quality
retina	UBERON:0000966	99.61	gold quality
pleura	UBERON:0000977	99.56	gold quality
myocardium	UBERON:0002349	99.48	gold quality
parietal pleura	UBERON:0002400	99.47	gold quality
nasal cavity epithelium	UBERON:0005384	99.46	gold quality
monocyte	CL:0000576	99.40	gold quality
renal medulla	UBERON:0000362	99.37	gold quality
mononuclear cell	CL:0000842	99.36	gold quality
cardiac ventricle	UBERON:0002082	99.35	gold quality
cardiac atrium	UBERON:0002081	99.33	gold quality
heart left ventricle	UBERON:0002084	99.33	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.33	gold quality
lower lobe of lung	UBERON:0008949	99.33	gold quality
leukocyte	CL:0000738	99.32	gold quality
right atrium auricular region	UBERON:0006631	99.32	gold quality
nephron tubule	UBERON:0001231	99.31	gold quality
left ventricle myocardium	UBERON:0006566	99.29	gold quality
thyroid gland	UBERON:0002046	99.28	gold quality
bronchial epithelial cell	CL:0002328	99.27	gold quality
left lobe of thyroid gland	UBERON:0001120	99.27	gold quality
germinal epithelium of ovary	UBERON:0001304	99.27	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	99.27	gold quality
skin of hip	UBERON:0001554	99.25	gold quality
caput epididymis	UBERON:0004358	99.25	gold quality
heart	UBERON:0000948	99.22	gold quality
kidney epithelium	UBERON:0004819	99.21	gold quality
cranial nerve II	UBERON:0000941	99.17	gold quality
right lobe of thyroid gland	UBERON:0001119	99.16	gold quality
inferior olivary complex	UBERON:0002127	99.16	gold quality
oral cavity	UBERON:0000167	99.13	gold quality
epithelium of bronchus	UBERON:0002031	99.13	gold quality
tongue squamous epithelium	UBERON:0006919	99.13	gold quality
renal glomerulus	UBERON:0000074	99.10	gold quality
eye	UBERON:0000970	99.09	gold quality
nasal cavity mucosa	UBERON:0001826	99.09	gold quality
apex of heart	UBERON:0002098	99.09	gold quality
bronchus	UBERON:0002185	99.08	gold quality
gall bladder	UBERON:0002110	99.06	gold quality
right lung	UBERON:0002167	99.05	gold quality
metanephric glomerulus	UBERON:0004736	99.05	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.02	gold quality
substantia nigra pars compacta	UBERON:0001965	98.99	gold quality
vena cava	UBERON:0004087	98.99	gold quality
esophagus squamous epithelium	UBERON:0006920	98.99	gold quality
epithelium of nasopharynx	UBERON:0001951	98.97	gold quality
choroid plexus epithelium	UBERON:0003911	98.96	gold quality
nasopharynx	UBERON:0001728	98.95	gold quality
mammary duct	UBERON:0001765	98.95	gold quality
palpebral conjunctiva	UBERON:0001812	98.95	gold quality
type B pancreatic cell	CL:0000169	98.93	gold quality
amniotic fluid	UBERON:0000173	98.91	gold quality
upper leg skin	UBERON:0004262	98.91	gold quality
mucosa of paranasal sinus	UBERON:0005030	98.91	gold quality
CA1 field of hippocampus	UBERON:0003881	98.90	gold quality
metanephros	UBERON:0000081	98.89	gold quality
lung	UBERON:0002048	98.89	gold quality
thoracic mammary gland	UBERON:0005200	98.88	gold quality
mammary gland	UBERON:0001911	98.87	gold quality
epithelium of mammary gland	UBERON:0003244	98.87	gold quality
cauda epididymis	UBERON:0004360	98.87	gold quality
mucosa of sigmoid colon	UBERON:0004993	98.85	gold quality
epithelial cell of pancreas	CL:0000083	98.83	gold quality
blood	UBERON:0000178	98.83	gold quality
adult organism	UBERON:0007023	98.82	gold quality
corpus epididymis	UBERON:0004359	98.81	gold quality
upper lobe of lung	UBERON:0008948	98.80	gold quality
seminal vesicle	UBERON:0000998	98.79	gold quality
epithelium of esophagus	UBERON:0001976	98.79	gold quality
parotid gland	UBERON:0001831	98.78	gold quality
tibia	UBERON:0000979	98.77	gold quality
cortex of kidney	UBERON:0001225	98.77	gold quality
superficial temporal artery	UBERON:0001614	98.77	gold quality
layer of synovial tissue	UBERON:0007616	98.77	gold quality
periodontal ligament	UBERON:0008266	98.76	gold quality
upper lobe of left lung	UBERON:0008952	98.76	gold quality
adult mammalian kidney	UBERON:0000082	98.75	gold quality
placenta	UBERON:0001987	98.73	gold quality
squamous epithelium	UBERON:0006914	98.73	gold quality
right coronary artery	UBERON:0001625	98.71	gold quality
lateral nuclear group of thalamus	UBERON:0002736	98.71	gold quality
synovial joint	UBERON:0002217	98.70	gold quality
subthalamic nucleus	UBERON:0001906	98.69	gold quality
kidney	UBERON:0002113	98.69	gold quality
lateral globus pallidus	UBERON:0002476	98.68	gold quality
trabecular bone tissue	UBERON:0002483	98.68	gold quality
adipose tissue	UBERON:0001013	98.66	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.63	gold quality
mucosa of urinary bladder	UBERON:0001259	98.61	gold quality
colonic mucosa	UBERON:0000317	98.60	gold quality
medulla oblongata	UBERON:0001896	98.60	gold quality
middle frontal gyrus	UBERON:0002702	98.60	gold quality
inferior vagus X ganglion	UBERON:0005363	98.60	gold quality
islet of Langerhans	UBERON:0000006	98.57	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.55	gold quality
rectum	UBERON:0001052	98.53	gold quality
biceps brachii	UBERON:0001507	98.53	gold quality

Single-cell (SCXA)

Detected in 27 experiment(s), a significant marker in 25.

Experiment	Marker?	Max mean expression
E-MTAB-7381	yes	1725.18
E-HCAD-4	yes	203.35
E-CURD-122	yes	68.35
E-MTAB-6701	yes	50.00
E-MTAB-8410	yes	45.30
E-HCAD-10	yes	39.64
E-CURD-46	yes	36.23
E-GEOD-137537	yes	29.51
E-CURD-88	yes	29.50
E-MTAB-9467	yes	27.74
E-MTAB-9221	yes	27.19
E-MTAB-7316	yes	25.84
E-MTAB-10553	yes	25.59
E-MTAB-6678	yes	23.97
E-MTAB-10287	yes	23.74

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Heart muscle	tissue	537.2	high
Thyroid gland	tissue	305.0	high
Adipose tissue	tissue	201.2	low
Kidney	tissue	190.4	high
Lung	tissue	179.4	high
Epididymis	tissue	124.2	high
Placenta	tissue	114.2	low
Parathyroid gland	tissue	110.6	medium
Urinary bladder	tissue	105.7	high
Bone marrow	tissue	101.8	medium
Gallbladder	tissue	92.8	high
Cervix	tissue	92.6	medium
Breast	tissue	89.9
Rectum	tissue	81.7	medium
Spleen	tissue	80.4	high
Prostate	tissue	79.1	high
Colon	tissue	79.0	medium
Pituitary gland	tissue	75.8
Retina	tissue	73.6
Seminal vesicle	tissue	73.4	high
Choroid plexus	tissue	71.0
Esophagus	tissue	68.8	low
Adrenal gland	tissue	67.8	high
Fallopian tube	tissue	66.2	medium
Tongue	tissue	65.9
Locus coeruleus	tissue	61.9
Lymph node	tissue	61.7	medium
Skeletal muscle	tissue	61.3	medium
Salivary gland	tissue	58.5	medium
Stomach 1	tissue	57.7	medium
Smooth muscle	tissue	57.6	low
Liver	tissue	56.9	medium
Tonsil	tissue	54.1
Small intestine	tissue	53.4	medium
Duodenum	tissue	51.6	medium
Skin 1	tissue	49.7	low
Vagina	tissue	49.3	low
Appendix	tissue	48.7	medium
Pancreas	tissue	46.8	medium
Ovary	tissue	45.1	low
Endometrium 1	tissue	42.3	medium
Hippocampus	tissue	41.6	medium
Nucleus accumbens	tissue	41.0
Postcentral gyrus	tissue	33.7
Frontal cortex	tissue	31.4
Caudate putamen	tissue	29.8
Spinal cord	tissue	29.2
Superior colliculi	tissue	27.1
Substantia nigra	tissue	26.2
Medulla oblongata	tissue	25.7
Thymus	tissue	24.2
Pons	tissue	22.6
Midbrain	tissue	22.1
Thalamus	tissue	21.9
Hypothalamus	tissue	20.9
Septum	tissue	18.8
Periaqueductal gray	tissue	18.0
Corpus callosum	tissue	17.9
Testis	tissue	17.0	high
Hippocampal formation	tissue	16.4

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Lateral funiculus (white matter) (156.4), Dorsal funiculus (white matter) (114.3), Anterior funiculus (white matter) (109.8), Medial olivary nucleus (83.5), Blood vessel (83.2).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREB1, FLCN, KLF6, TFE3, TP53

miRNA regulators (miRDB)

Targeting ASAH1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 81 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4282	99.99	75.36	6408
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698

Functional genomics

gnomAD constraint: pLI 2.6e-20, LOEUF 1.44, missense Z -2.83 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000637790 — one region, missense o/e 1.37.

Literature-anchored findings (GeneRIF, showing 40)

• acid ceramidase has a central role in sphingolipid metabolism (PMID:12764132)
• biochemistry of acid ceramidase reaction with acid sphingomyelinase (PMID:12815059)
• p53-dependent expression of acid ceramidase and blockage of A-SMase activation play pivotal roles in protection from gamma-radiation of cells with endogenous functional p53. (PMID:15088070)
• These results provide the first characterization of the Acid Ceremidase promoter from any species and demonstrate that Kruppel-like factor 6 (KLF6) is one transcription factor involved in the regulation of AC gene expression. (PMID:16500425)
• upregulation of haCER1 and AC mediates the Ca2+(o)-induced growth arrest and differentiation of keratinocytes by generating sphingosine and its phosphate (PMID:17713573)
• AC is a critical regulator of prostate cancer progression by affecting not only tumor cell proliferation and migration but also responses to drug therapy (PMID:17881906)
• Positive selection is possibly operating on ASAH1 in the modern human population. (PMID:18245333)
• acid ceramidase was constitutively overexpressed in leukemic LGLs and its inhibition induced apoptosis of leukemic LGLs (PMID:18477771)
• These data identify the ACTH/cAMP signaling pathway and CREB as transcriptional regulators of the ASAH1 gene in the human adrenal cortex. (PMID:19298866)
• high ASAH1 expression correlates with grading & estrogen receptor (ER) status in breast cancer; high ASAH1 expression was associated with larger tumor size; a better prognosis of patients with higher ASAH1 expression in ER-positive subgroup was detected (PMID:19905902)
• Both acidic ceramidase (aCDase) and neutral ceramidase (nCDase) activities declined after low- and high-UVB, but returned to normal only in low-UVB cells (PMID:20520628)
• Acid ceramidase (aCDase) is responsible for ceramide degradation within mammalian cells. An inherited deficiency of aCDase activity results in Farber disease. (PMID:20871013)
• cells deficient in acid ceramidase (aCDase) also exhibited defects in CCL5 induction, whereas cells deficient in sphingosine kinase-1 and -2 exhibited higher levels of CCL5. (PMID:21335555)
• This study supports that the ASAH1 gene may be a potential candidate gene for schizophrenia in Han Chinese subjects. (PMID:21375364)
• a mechanism through which genistein promotes sphingolipid metabolism and support a role for ASAH1 in breast cancer cell growth. (PMID:21493710)
• the level of AC did not correlate with the sensitivity of HNSCC cells to Fas-induced apoptosis. (PMID:21504271)
• down-regulation of aCDase alone or in combination with DTIC may represent a useful tool in the treatment of metastatic melanoma. (PMID:21700700)
• Identification of cystatin SA as a novel inhibitor of acid ceramidase. (PMID:21846728)
• A report of two siblings with Farber disease who carry a novel V97G ASAH1 mutation with the parents and a sister being asymptomatic carriers. (PMID:21893389)
• ASAH1 as a pivotal regulator of steroidogenic capacity in the human adrenal cortex. (PMID:22261821)
• Acid ceramidase, through sphingosine 1-phosphate, promotes an invasive phenotype in prostate cancer by causing overexpression and secretion of cathepsin B through activation and nuclear expression of Ets1. (PMID:22322590)
• ASAH1 inhibition synergistically sensitizes lung cancer cells resistant to the antiproliferative effect of choline kinase alpha inhibitors. (PMID:22515519)
• Our results reveal a wide phenotypic spectrum associated with ASAH1 mutations in spinal muscular atrophy associated with progressive myoclonal epilepsy. (PMID:22703880)
• results demonstrate that ASAH1 is a novel coregulatory protein that represses SF-1 function by directly binding to the receptor on SF-1 target gene promoters and identify a key role for nuclear lipid metabolism in regulating gene transcription (PMID:22927646)
• These observations confirm ASAH1 as a therapeutic target in advanced and chemoresistant forms of prostate cancer (PMID:23423838)
• Acid ceramidase is a prognostic factor in epithelial ovarian cancer (PMID:23518908)
• This work unravels for the first time the mutations underlying the neonatal form of Farber disease and represents the first report of a large deletion identified in the ASAH1 gene. (PMID:23707712)
• Depletion of both Akt2 and ASAH1 is much more potent than depleting each alone at inhibiting neoplastic cell viability/proliferation and invasion. (PMID:23777806)
• Immunohistochemical analysis of human prostate cancer tissues revealed higher levels of ASAH1 after radiotherapy failure. (PMID:24091326)
• Acid ceramidase promotes nuclear export of PTEN through sphingosine 1-phosphate mediated Akt signaling. (PMID:24098536)
• novel ASAH1 mutations affecting polypyrimidine tract deletion, and exon skipping and resulting in Farber lipogranulomatosis (PMID:24355074)
• high ASAH1 expression is generally associated with an improved prognosis in invasive breast cancer independent of adjuvant treatment and could also be valuable as prognostic factor for pre-invasive DCIS. (PMID:25131496)
• Data suggest up-regulation of ASAH1 activity by androgen in androgen-sensitive prostate cancer cells (not other cancer cells) is due to prolonged stability of ASAH1 by androgen-stimulated induction of USP2 (ubiquitin specific peptidase 2) expression. (PMID:25888580)
• AC-controlled sphingolipid metabolism may play an important role in the control of melanoma proliferation (PMID:26553872)
• Genetic or pharmacological acid ceramidase inhibition promotes cisplatin cytotoxicity in head and neck tumor cells. (PMID:26687835)
• Our findings indicate that hypomorphic mutations in ASAH1 may result in an osteoarticular phenotype with a juvenile phase resembling rheumatoid arthritis that evolves to osteolysis as the final stage in the absence of neurologic signs. This observation delineates a novel type of recessively inherited peripheral osteolysis and illustrates the long-term skeletal manifestations of acid ceramidase deficiency (Farber’s disease (PMID:26945816)
• This study describes for the first time the association between ASAH1 variants and an adult SMA phenotype with no myoclonic epilepsy nor death in early age, thus expanding the phenotypic spectrum of ASAH1-related SMA. (PMID:27026573)
• We report an atypical presentation of Farber disease with her pathology and associated genetic defect. This case expands the phenotypic spectrum of Farber disease to include novel mutations of ASAH1, which pose a diagnostic challenge. (PMID:27411168)
• The present report describes a 9-year-old girl with novel clinical phenotype of a patient with polyarticular arthritis followed by symptoms of SMA due to acid ceramidase deficiency. Whole exome sequencing identified compound heterozygous pathogenic mutation in the N-acylsphingosine amidohydrolase 1 gene. (PMID:27650050)
• Acid ceramidase plays a critical role in acute myeloid leukemia cell survival via regulation of both sphingolipid levels and Mcl-1. (PMID:27825124)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	asah1b	ENSDARG00000034817
danio_rerio	asah1a	ENSDARG00000037091
mus_musculus	Asah1	ENSMUSG00000031591
rattus_norvegicus	Asah1	ENSRNOG00000010034
caenorhabditis_elegans		WBGENE00009192
caenorhabditis_elegans	asah-1	WBGENE00010769

Paralogs (1): NAAA (ENSG00000138744)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1277124) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 106 distinct phenotype terms.

Mouse phenotype (MP)	Records
weight loss	3
premature death	3
increased monocyte cell number	2
enlarged spleen	2
abnormal gait	2
increased erythrocyte cell number	2
astrocytosis	2
increased macrophage derived foam cell number	2
abnormal ceramide level	2
increased sphingosine level	2
increased ceramide level	2
kyphosis	1
scoliosis	1
increased leukocyte cell number	1
increased neutrophil cell number	1
decreased leukocyte cell number	1
abnormal heart morphology	1
enlarged heart	1
increased granulocyte number	1
distended urinary bladder	1
abnormal urinary bladder urothelium morphology	1
abnormal liver morphology	1
pale liver	1
enlarged lymph nodes	1
abnormal thymus morphology	1

+81 more (showing top 25).

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Pan troglodytes	A5A6P2	98.5%	Diamond
Macaca fascicularis	Q60HH4	94.9%	Diamond
Balaenoptera acutorostrata scammoni	A0A383ZFX3	89.1%	Diamond
Bos taurus	Q17QB3	89.1%	Diamond
Heterocephalus glaber	A0A0P6JG37	85.6%	Diamond
Oryctolagus cuniculus	G1T7U7	84.1%	Diamond
Cavia porcellus	H0VCJ6	81.7%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
ASAH1-AS1	ncRNA	101929066
NAT1	protein-coding	9
PCM1	protein-coding	5108
FGL1	protein-coding	2267

Protein

Protein identifiers

Acid ceramidase — Q13510 (reviewed: Q13510)

Alternative names: Acylsphingosine deacylase, Glycosylceramide deacylase, N-acylethanolamine hydrolase ASAH1, N-acylsphingosine amidohydrolase, Putative 32 kDa heart protein

All UniProt accessions (38): A0A1B0GTA6, A0A1B0GTD4, A0A1B0GTM3, A0A1B0GTP7, A0A1B0GTQ7, A0A1B0GTX9, A0A1B0GTZ5, A0A1B0GU06, A0A1B0GU62, A0A1B0GU70, A0A1B0GUA4, Q13510, A0A1B0GUB3, A0A1B0GUE3, A0A1B0GUG1, A0A1B0GUH5, A0A1B0GUJ2, A0A1B0GUJ3, A0A1B0GUP1, A0A1B0GUQ5, A0A1B0GUW4, A0A1B0GV06, A0A1B0GV88, A0A1B0GV95, A0A1B0GVA3, A0A1B0GVA8, A0A1B0GVC9, A0A1B0GVE7, A0A1B0GVG2, A0A1B0GVJ1, A0A1B0GVL2, A0A1B0GVY5, A0A1B0GW30, A0A1B0GW48, A0A1B0GW66, A0A1B0GW68, A0A1B0GWC9, E7EMM4

UniProt curated annotations — full annotation on UniProt →

Function. Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH. Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation. Has a higher catalytic efficiency towards C12-ceramides versus other ceramides. Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine. For the reverse synthetic reaction, the natural sphingosine D-erythro isomer is more efficiently utilized as a substrate compared to D-erythro-dihydrosphingosine and D-erythro-phytosphingosine, while the fatty acids with chain lengths of 12 or 14 carbons are the most efficiently used. Also has an N-acylethanolamine hydrolase activity. By regulating the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes. Also indirectly regulates tumor necrosis factor/TNF-induced apoptosis. By regulating the intracellular balance between ceramides and sphingosine, in adrenocortical cells, probably also acts as a regulator of steroidogenesis. May directly regulate steroidogenesis by binding the nuclear receptor NR5A1 and negatively regulating its transcriptional activity.

Subunit / interactions. Heterodimer; disulfide-linked. The heterodimer is composed of the disulfide-linked alpha and beta chains produced by autocatalytic cleavage of the precursor. Isoform 2: May interact with NR5A1 in the nucleus; the direct interaction would negatively regulate NR5A1 transcriptional activity.

Subcellular location. Lysosome. Secreted Nucleus. Cytoplasm.

Tissue specificity. Broadly expressed with higher expression in heart.

Post-translational modifications. N-glycosylated. Proteolytically cleaved into two chains alpha and beta that remain associated via a disulfide bond. Cleavage gives rise to a conformation change that activates the enzyme. The same catalytic Cys residue mediates the autoproteolytic cleavage and subsequent hydrolysis of lipid substrates. The beta chain may undergo an additional C-terminal processing.

Disease relevance. Farber lipogranulomatosis (FRBRL) [MIM:228000] An autosomal recessive lysosomal storage disorder characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, and marked accumulation of ceramide in lysosomes. Disease severity is variable. The most severe disease subtype is a rare neonatal form with death occurring before 1 year of age. The disease is caused by variants affecting the gene represented in this entry. Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950] An autosomal recessive neuromuscular disorder characterized by childhood onset of motor deficits and progressive myoclonic seizures, after normal developmental milestones. Proximal muscle weakness and generalized muscular atrophy are due to degeneration of spinal motor neurons. Myoclonic epilepsy is generally resistant to conventional therapy. The disease course is progressive and leads to respiratory muscle involvement and severe handicap or early death from respiratory insufficiency. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Activated by Ca(2+), Mg(2+) and Na(+) cations. Inhibited by Zn(2+). Phosphatidylserine and phosphatidic acid stimulate while cardiolipin, phosphatidylcholine, lysophosphatidylcholine, phosphatidylethanolamine, phosphatidylinositol and sphingomyelin inhibit the reverse ceramide synthase activity. Phosphatidic acid, phosphatidylinositol and C16-ceramide inhibit the ceramidase/hydrolase activity.

Induction. Up-regulated by Ca(2+).

Pathway. Lipid metabolism; sphingolipid metabolism.

Miscellaneous. Switches substrate specificity upon intralysosomal accumulation of glycosphingolips. Such is the case in Gaucher disease where the regular catabolism of glucosylceramide (GluCer) fails due to the lack of GBA1 activity, its accumulation triggers the alternative catabolism by acid ceramidase which deacylates GluCer producing a free fatty acid and glucosylsphingosine (glucosylsphing-4-enine, GluSph). Similarly, the intralysosomal accumulation of globoside Gb3 in Fabry disease due to an inactive GLA triggers its alternative catabolism by acid ceramidase, generating lysoGb3. Formation of lyso-glycosphingolipids might have harmful side-effects and contribute to the pathology, for instance GluSph causes an aberrant activation of mTORC1, suppressing normal lysosomal functions, including the clearance of pathogenic alpha-synuclein species. Mutagenesis in position: 25:L->A (Loss of interaction with NR5A1).

Similarity. Belongs to the acid ceramidase family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q13510-1	1	yes
Q13510-2	2
Q13510-3	3

RefSeq proteins (4): NP_001120977, NP_001350672, NP_004306, NP_808592* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016699	Acid_ceramidase-like	Family
IPR029130	Acid_ceramidase_N	Domain
IPR029132	CBAH/NAAA_C	Domain

Pfam: PF02275, PF15508

Enzyme classification (BRENDA)

• EC 3.5.1.23 — ceramidase (BRENDA: 26 organisms, 303 substrates, 355 inhibitors, 64 Km, 14 kcat entries)

Substrate kinetics (BRENDA)

43 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
N-LAUROYLSPHINGOSINE	0.149–0.4132	5
D-ERYTHRO-C12-4-NITROBENZO-2-OXA-1,3-DIAZOLE-CER	0.0393–0.0601	3
N-[12-[(7-NITRO-2-1,3-BENZOXADIAZOL-4-YL)AMINE]D	0.0155–0.066	3
(2R,3Z)-2-([(2E)-1-HYDROXY-12-[(7-NITRO-2,1,3-BE	0.087–0.19	2
N-[(2S,3R,4E)-1,3-DIHYDROXY-14-[(7-NITRO-2,1,3-B	0.193–0.204	2
N-[(2S,3R,4E)-1,3-DIHYDROXYNONADEC-4-EN-2-YL]-12	0.085–0.11	2
N-[(2S,3R,4E)-13-[[9-(ETHYLAMINO)-5-OXO-5H-BENZO	0.036–0.082	2
N-[(2S,3R,4E)-7-[[9-(DIETHYLAMINO)-5-OXO-5H-BENZ	0.1418–0.1818	2
(13E)-N-[(2S,3R,4E)-1,3-DIHYDROXY-7-[(2-OXO-2H-1	0.033	1
(15E)-N-[(2S,3R,4E)-1,3-DIHYDROXY-7-[(2-OXO-2H-1	0.04	1
(2R)-N-[(2S,3R,4E)-1,3-DIHYDROXY-7-[(2-OXO-2H-1-	0.042	1
(2S)-N-[(2S,3R,4E)-1,3-DIHYDROXY-7-[(2-OXO-2H-1-	0.021	1
(4E,2S,3R)-2-N-(10-PYRENEDECANOYL)-1,3,17-TRIHYD	0.0005	1
(9E)-N-[(2S,3R,4E)-1,3-DIHYDROXY-7-[(2-OXO-2H-1-	0.139	1
2,4-DIDEOXY-2-(HEXADECANOYLAMINO)-5-O-(2-OXO-2H-	0.016	1

Catalyzed reactions (Rhea)

• an N-acylsphing-4-enine + H2O = sphing-4-enine + a fatty acid (RHEA:20856)
• a beta-D-glucosyl-(1<->1’)-N-acylsphing-4-enine + H2O = beta-D-glucosyl-(1<->1)-sphing-4-enine + a fatty acid (RHEA:30915)
• N-hexadecanoylsphing-4-enine + H2O = sphing-4-enine + hexadecanoate (RHEA:38891)
• N-octadecanoylsphing-4-enine + H2O = sphing-4-enine + octadecanoate (RHEA:41279)
• N-tetradecanoylsphing-4-enine + H2O = sphing-4-enine + tetradecanoate (RHEA:41287)
• N-dodecanoylsphing-4-enine + H2O = dodecanoate + sphing-4-enine (RHEA:41291)
• N-(hexanoyl)sphing-4-enine + H2O = hexanoate + sphing-4-enine (RHEA:41295)
• N-(9Z-octadecenoyl)-sphing-4-enine + H2O = sphing-4-enine + (9Z)-octadecenoate (RHEA:41299)
• N-dodecanoyl-(4R)-hydroxysphinganine + H2O = (4R)-hydroxysphinganine + dodecanoate (RHEA:41303)
• N-octanoylsphing-4-enine + H2O = octanoate + sphing-4-enine (RHEA:45092)
• N-(dodecanoyl)-sphinganine + H2O = dodecanoate + sphinganine (RHEA:45448)
• N-dodecanoylethanolamine + H2O = dodecanoate + ethanolamine (RHEA:45456)

UniProt features (108 total): sequence variant 29, strand 17, mutagenesis site 17, helix 15, turn 7, glycosylation site 6, sequence conflict 5, splice variant 3, site 3, chain 2, disulfide bond 2, signal peptide 1, active site 1

Structure

Experimental structures (PDB)

2 structures by resolution:

PDB	Title	Method	Resolution (Å)
5U7Z	Human acid ceramidase (ASAH1, aCDase) self-activated	X-RAY DIFFRACTION	2.5
6MHM	Crystal structure of human acid ceramidase in covalent complex with carmofur	X-RAY DIFFRACTION	2.74

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13510-F1	91.97	0.77

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Hydrolases, Metabolic proteins, Predicted membrane proteins, Predicted intracellular proteins, Disease related genes, Potential drug targets, Human disease related genes, Congenital disorders of metabolism, Congenital disorders of lipid/glycolipid metabolism

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH supported

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (4)

Position	Role
143	nucleophile
162	important for catalytic activity
320	important for catalytic activity
333	important for catalytic activity

Disulfide bonds (2)

Type	Positions
Interchain (between alpha and beta subunits)	31–340
Disulfide bond	388–392

Glycosylation sites (6)

Type	Positions
N-linked (glcnac…) asparagine	286, 342, 348, 173, 195, 259

Mutagenesis-validated functional residues (17)

Position	Phenotype
80	no effect on autocatalytic processing, but loss of ceramidase activity, when associated with 165-q–q-167.
141	decreased rate of autocatalytic processing.
143	loss of autocatalytic processing. loss of ceramidase activity.
159	strongly decreased autocatalytic processing. moderately decreased ceramidase activity.
162	strongly decreased autocatalytic processing. strongly decreased ceramidase activity.
165–167	no effect on autocatalytic processing, but loss of ceramidase activity, when associated with q-80.
169–171	moderately decreased autocatalytic processing, but loss of ceramidase activity, when associated with q-176.
173	loss of ceramide catabolic process.
176	moderately decreased autocatalytic processing, but loss of ceramidase activity, when associated with 169-q–q-171.
195	no effect on ceramide catabolic process.
259	loss of ceramide catabolic process.
286	no effect on ceramide catabolic process.
320	strongly decreased autocatalytic processing. mildly decreased ceramidase activity.
328–330	no effect on autocatalytic processing, but strongly decreased ceramidase activity.
333	mildly decreased autocatalytic processing. loss of ceramidase activity.
342	loss of ceramide catabolic process.
348	no effect on ceramide catabolic process.

Function

Pathways and Gene Ontology

Reactome pathways

3 curated (TAS) of 12; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

12 pathways:

ID	Pathway	Evidence
R-HSA-9840310	Glycosphingolipid catabolism	curated
R-HSA-6798695	Neutrophil degranulation	curated
R-HSA-9857377	Regulation of MITF-M-dependent genes involved in lysosome biogenesis and autophagy	curated
R-HSA-1266738	Developmental Biology	—
R-HSA-1660662	Glycosphingolipid metabolism	—
R-HSA-168256	Immune System	—
R-HSA-168249	Innate Immune System	—
R-HSA-9856651	MITF-M-dependent gene expression	—
R-HSA-9730414	MITF-M-regulated melanocyte development	—
R-HSA-1430728	Metabolism	—
R-HSA-556833	Metabolism of lipids	—
R-HSA-428157	Sphingolipid metabolism	—

MSigDB gene sets: 616 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_CERAMIDE_CATABOLIC_PROCESS, GOBP_EPITHELIUM_DEVELOPMENT, REACTOME_INNATE_IMMUNE_SYSTEM, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, BIOCARTA_EDG1_PATHWAY, GOBP_RESPONSE_TO_PEPTIDE, GOCC_SECRETORY_GRANULE, MODULE_45, GOBP_POLYOL_METABOLIC_PROCESS, KEGG_LYSOSOME, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_MEMBRANE_LIPID_CATABOLIC_PROCESS, BOHN_PRIMARY_IMMUNODEFICIENCY_SYNDROM_DN, GOBP_CERAMIDE_BIOSYNTHETIC_PROCESS

GO Biological Process (11): fatty acid metabolic process (GO:0006631), keratinocyte differentiation (GO:0030216), sphingosine biosynthetic process (GO:0046512), ceramide biosynthetic process (GO:0046513), ceramide catabolic process (GO:0046514), regulation of steroid biosynthetic process (GO:0050810), regulation of programmed necrotic cell death (GO:0062098), cellular response to tumor necrosis factor (GO:0071356), lipid metabolic process (GO:0006629), sphingolipid metabolic process (GO:0006665), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (8): transcription corepressor activity (GO:0003714), hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides (GO:0016811), nuclear receptor binding (GO:0016922), N-acylsphingosine amidohydrolase activity (GO:0017040), fatty acid amide hydrolase activity (GO:0017064), protein binding (GO:0005515), hydrolase activity (GO:0016787), hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)

GO Cellular Component (9): extracellular region (GO:0005576), nucleus (GO:0005634), lysosome (GO:0005764), membrane (GO:0016020), lysosomal lumen (GO:0043202), extracellular exosome (GO:0070062), tertiary granule lumen (GO:1904724), ficolin-1-rich granule lumen (GO:1904813), cytoplasm (GO:0005737)

Reactome top-level categories

9 top-level categories:

Category	Pathways
Innate Immune System	1
Glycosphingolipid metabolism	1
MITF-M-dependent gene expression	1
Sphingolipid metabolism	1
Immune System	1
Metabolism of lipids	1
Metabolism	1
Developmental Biology	1
MITF-M-regulated melanocyte development	1

GO top-level categories

39 GO namespaces:

Category	Terms
cellular anatomical structure	3
lipid metabolic process	2
ceramide metabolic process	2
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	2
intracellular organelle lumen	2
monocarboxylic acid metabolic process	1
epidermal cell differentiation	1
skin development	1
sphingosine metabolic process	1
diol biosynthetic process	1
sphingoid biosynthetic process	1
sphingolipid biosynthetic process	1
sphingolipid catabolic process	1
steroid biosynthetic process	1
regulation of steroid metabolic process	1
regulation of lipid biosynthetic process	1
regulation of programmed cell death	1
programmed necrotic cell death	1
response to tumor necrosis factor	1
cellular response to cytokine stimulus	1
primary metabolic process	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
transcription coregulator activity	1
negative regulation of DNA-templated transcription	1
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	1
RNA polymerase II-specific DNA-binding transcription factor binding	1
binding	1
catalytic activity	1
hydrolase activity	1
intracellular membrane-bounded organelle	1
lytic vacuole	1
lysosome	1
vacuolar lumen	1
extracellular vesicle	1
tertiary granule	1
ficolin-1-rich granule	1
intracellular anatomical structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 12 of 29 annotations. The rest are phylogenetic / computational / electronic (IEA).

12 experimentally-supported GO terms:

GO term	NS	Evidence
ceramide biosynthetic process	BP	direct assay
ceramide catabolic process	BP	direct assay
keratinocyte differentiation	BP	mutant phenotype
regulation of steroid biosynthetic process	BP	mutant phenotype
sphingosine biosynthetic process	BP	direct assay
extracellular exosome	CC	high-throughput assay
lysosome	CC	direct assay
nucleus	CC	direct assay
N-acylsphingosine amidohydrolase activity	MF	direct assay
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	MF	direct assay
nuclear receptor binding	MF	physical interaction
transcription corepressor activity	MF	mutant phenotype

Protein interactions and networks

STRING

showing 15 of 1,478 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASAH1	ASAH2	Q9NR71	928
ASAH1	SMPD1	P17405	907
ASAH1	ASAH2B	P0C7U1	880
ASAH1	GALC	P54803	840
ASAH1	PSAP	P07292	838
ASAH1	ACER1	Q8TDN7	832
ASAH1	SPTLC1	O15269	813
ASAH1	ACER3	Q9NUN7	813
ASAH1	GBA1	P04062	810
ASAH1	GLA	P06280	799
ASAH1	ACER2	Q5QJU3	791
ASAH1	CERK	Q8TCT0	783
ASAH1	ARSA	P15289	782
ASAH1	SPHK1	Q9NYA1	766
ASAH1	SPTLC2	O15270	762

IntAct

Human interaction partners of ASAH1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

13 partners by confidence:

Partner	Interaction type	MIscore	Records
NR5A1	association	0.550	3
AKR7A3	association	0.530	1
CYP17A1	association	0.460	1
SRPK1	phosphorylation reaction	0.440	1
CAMK1D	physical association	0.370	1
HSPB2	physical association	0.370	1
AAMP	association	0.350	2
CLTCL1	association	0.350	1
HDAC1	association	0.350	1
MC2R	association	0.350	1
NR0B1	association	0.350	1
SETDB1	physical association	0.000	1
TSC22D1	physical association	0.000	1

BioGRID (102 interactions; top human partners by supporting records): AAGAB (Affinity Capture-MS; 3 records), AAMP (Affinity Capture-MS; 3 records), CYP1A2 (Affinity Capture-MS; 2 records), FBXO6 (Affinity Capture-MS; 2 records), GLT1D1 (Affinity Capture-MS; 2 records), GSG1 (Affinity Capture-MS; 2 records), HSF2 (Affinity Capture-MS; 2 records), PNKD (Affinity Capture-MS; 2 records), AIRE (Affinity Capture-MS), AKR7A3 (Affinity Capture-MS), APEX1 (Affinity Capture-RNA), C9orf72 (Affinity Capture-MS), CAD (Co-fractionation), CAMK1D (Two-hybrid), CAMK2B (Affinity Capture-MS)

Protein complexes (CORUM) (2)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

2 complexes by size:

Complex	Subunits	Members
ASAH1-NR5A1-SAPD complex	3	ASAH1, NR5A1, PSAP
ASAH1-NR5A1 complex	2	ASAH1, NR5A1

Disease & clinical

Genetic variants

Variant evidence for ASAH1: 1,075 ClinVar records (123 pathogenic / likely pathogenic); 9 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

1,075 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	68
Likely pathogenic	55
Uncertain significance	373
Likely benign	394
Benign	107

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 123 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
812471	NM_177924.5(ASAH1):c.410_411del (p.Phe136_Tyr137insTer)	Pathogenic	criteria provided, multiple submitters, no conflicts	4
812508	NM_177924.5(ASAH1):c.886C>T (p.Arg296Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
662497	NM_177924.5(ASAH1):c.125+1G>A	Pathogenic	criteria provided, multiple submitters, no conflicts	2
812478	NM_177924.5(ASAH1):c.760A>G (p.Arg254Gly)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
812486	NM_177924.5(ASAH1):c.174dup (p.Tyr59fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
2069383	NM_177924.5(ASAH1):c.185G>A (p.Trp62Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
505533	NM_177924.5(ASAH1):c.648+1G>C	Likely pathogenic	criteria provided, multiple submitters, no conflicts	4
92	NM_177924.5(ASAH1):c.413A>T (p.Glu138Val)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	3
362375	NM_177924.5(ASAH1):c.704G>A (p.Gly235Asp)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
812472	NM_177924.5(ASAH1):c.290T>G (p.Val97Gly)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
812479	NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
812488	NM_177924.5(ASAH1):c.1084C>A (p.Pro362Thr)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
812494	NM_177924.5(ASAH1):c.959A>G (p.Asn320Ser)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
1466316	NM_177924.5(ASAH1):c.786-2A>G	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
545563	NM_177924.5(ASAH1):c.703G>C (p.Gly235Arg)	Pathogenic	criteria provided, single submitter	2

Per-variant reference — Sugi Variant

Explore ASAH1’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 41 predictions of 1,102):

Position(s)	Effect	Δscore	Sites
8:18058833–18058834	donor_loss	1.0000	5
8:18058892–18058893	acceptor_loss	1.0000	6
8:18059704–18059705	acceptor_loss	1.0000	4
8:18059706–18059708	acceptor_gain	1.0000	2
8:18059716–18059718	acceptor_gain	1.0000	2
8:18061375–18061376	donor_loss	1.0000	4
8:18061459–18061460	acceptor_loss	1.0000	3
8:18069790–18069791	donor_loss	1.0000	5
8:18083979–18083980	donor_loss	1.0000	4
8:18057624–18057625	acceptor_loss	0.9900	6

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

5 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	9.71e-10
Bladder Urothelial Carcinoma (TCGA)	favorable	1.66e-06
Kidney Renal Clear Cell Carcinoma (validation)	favorable	4.94e-05
Ovary Serous Cystadenocarcinoma (validation)	unfavorable	0.000611
Lung Adenocarcinoma (TCGA)	favorable	0.000729

Disease associations

OMIM: gene MIM:613468 | disease phenotypes: MIM:159950, MIM:228000

GenCC curated gene-disease

3 curated gene-disease records:

Disease	Classification	Inheritance	Records
spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Definitive	Autosomal recessive	4
Farber lipogranulomatosis	Definitive	Autosomal recessive	4
ASAH1-related disorders	Strong	Autosomal recessive

ClinGen Gene-Disease Validity

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

1 validity classifications:

Disease	Classification	Inheritance
ASAH1-related sphingolipidosis	Definitive	AR

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (16 panels, 16 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

16 panels:

Panel	Rating
DDG2P	green
Early onset or syndromic epilepsy	green
Familial pulmonary fibrosis	green
Fetal anomalies	green
Fetal hydrops	green
Hereditary neuropathy or pain disorder	green
Hypotonic infant	green
Intellectual disability	green
Leukodystrophy, childhood onset	green
Likely inborn error of metabolism	green
Lysosomal storage disorder	green
Other rare neuromuscular disorders	green
Paediatric disorders	green
Paediatric motor neuronopathies	green
Undiagnosed metabolic disorders	green
Unexplained death in infancy and sudden unexplained death in childhood	green

Mondo (5): spinal muscular atrophy-progressive myoclonic epilepsy syndrome (MONDO:0008045), Farber lipogranulomatosis (MONDO:0009218), congenital nervous system disorder (MONDO:0002320), ASAH1-related sphingolipidosis (MONDO:0100524), (MONDO:0800460)

Orphanet (2): Spinal muscular atrophy-progressive myoclonic epilepsy syndrome (Orphanet:2590), Farber disease (Orphanet:333)

HPO phenotypes

showing 60 of 123 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000502	Abnormal conjunctiva morphology
HP:0000608	Macular degeneration
HP:0000639	Nystagmus
HP:0000707	Abnormality of the nervous system
HP:0000708	Atypical behavior
HP:0000726	Dementia
HP:0000737	Irritability
HP:0000766	Abnormal sternum morphology
HP:0000939	Osteoporosis
HP:0001155	Abnormality of the hand
HP:0001187	Hyperextensibility of the finger joints
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001268	Mental deterioration
HP:0001270	Motor delay
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0001308	Tongue fasciculations
HP:0001336	Myoclonus
HP:0001337	Tremor
HP:0001369	Arthritis
HP:0001371	Flexion contracture
HP:0001386	Joint swelling
HP:0001395	Hepatic fibrosis
HP:0001399	Hepatic failure
HP:0001433	Hepatosplenomegaly
HP:0001482	Subcutaneous nodule
HP:0001508	Failure to thrive
HP:0001541	Ascites
HP:0001609	Hoarse voice
HP:0001612	Weak cry
HP:0001615	Hoarse cry
HP:0001618	Dysphonia
HP:0001686	Loss of voice
HP:0001744	Splenomegaly
HP:0001757	High-frequency sensorineural hearing impairment
HP:0001760	Abnormal foot morphology
HP:0001789	Hydrops fetalis
HP:0001831	Short toe
HP:0001873	Thrombocytopenia
HP:0001903	Anemia
HP:0001954	Recurrent fever
HP:0001999	Abnormal facial shape
HP:0002015	Dysphagia
HP:0002028	Chronic diarrhea
HP:0002086	Abnormality of the respiratory system
HP:0002093	Respiratory insufficiency
HP:0002098	Respiratory distress
HP:0002100	Recurrent aspiration pneumonia
HP:0002123	Generalized myoclonic seizure
HP:0002197	Generalized-onset seizure
HP:0002205	Recurrent respiratory infections
HP:0002207	Diffuse reticular or finely nodular infiltrations
HP:0002240	Hepatomegaly
HP:0002300	Mutism
HP:0002312	Clumsiness

GWAS associations

9 associations:

Study	Trait	p-value
GCST006414_93	Atrial fibrillation	2e-21
GCST006061_192	Atrial fibrillation	2e-19
GCST006061_193	Atrial fibrillation	4e-18
GCST004297_6	Atrial fibrillation	6e-10
GCST010118_47	Type 2 diabetes	2e-9
GCST001057_9	Obesity	8e-8
GCST001057_12	Obesity	2e-7
GCST001057_11	Obesity	4e-7
GCST003542_190	Night sleep phenotypes	3e-6

MeSH disease descriptors

2 disease descriptors:

Descriptor	Name	Tree numbers
D055577	Farber Lipogranulomatosis	C10.228.140.163.100.435.825.250; C16.320.565.189.435.825.250; C16.320.565.398.641.803.325; C16.320.565.595.554.825.250; C18.452.132.100.435.825.250; C18.452.584.563.641.803.325; C18.452.648.189.435.825.250; C18.452.648.398.641.803.325; C18.452.648.595.554.825.250
C537563	Jankovic Rivera syndrome *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5463 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 40,165 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

1 molecules by phase:

Molecule	Name	Phase	Patents
CHEMBL460499	CARMOFUR	2	40,165

PharmGKB: 1 entry (CPIC guideline: no)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Acid ceramidase

Binding affinities (BindingDB)

181 measured of 191 human assays (191 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
2-oxo-4-phenyl-N-(4- phenylbutyl)-1,3- benzoxazole-3-carboxamide	IC50	0.8 nM	US-10226452: Benzoxazolone derivatives as acid ceramidase inhibitors, and their use as medicaments
CHEMBL4093029	IC50	0.9 nM
4-fluoro-2-oxo-N-(4- phenylbutyl)-1,3- benzoxazole-3-carboxamide	IC50	1 nM	US-10226452: Benzoxazolone derivatives as acid ceramidase inhibitors, and their use as medicaments
CHEMBL4103207	IC50	1 nM
CHEMBL4084295	IC50	1.3 nM
CHEMBL4092051	IC50	2.1 nM
CHEMBL4062592	IC50	2.2 nM
CHEMBL4075447	IC50	2.4 nM
CHEMBL4065362	IC50	2.4 nM
CHEMBL4100744	IC50	2.5 nM
5-nitro-2-oxo-N-(4- phenylbutyl)-1,3- benzoxazole-3-carboxamide	IC50	3 nM
6-nitro-2-oxo-N-(4- phenylbutyl)-1,3- benzoxazole-3-carboxamide	IC50	3 nM
CHEMBL4580541	IC50	3 nM
CHEMBL4071239	IC50	4.1 nM
CHEMBL4075028	IC50	4.7 nM
CHEMBL4742096	IC50	5 nM
CHEMBL4592427	IC50	6 nM
Benzoimidazole-1-Carboxylic Acid Hexylamide	IC50	6.6 nM
CHEMBL4089655	IC50	7 nM
CHEMBL4096883	IC50	7 nM
CHEMBL2333055	IC50	7.7 nM
CHEMBL4076230	IC50	8.3 nM
CHEMBL4101140	IC50	8.5 nM
CHEMBL4095461	IC50	9.9 nM
6-fluoro-2-oxo-N-(4- phenylbutyl)-1,3- benzoxazole-3-carboxamide	IC50	10 nM	US-10226452: Benzoxazolone derivatives as acid ceramidase inhibitors, and their use as medicaments
2-oxo-N-(4-phenylbutyl)-5- (trifluoromethyl)-1,3- benzoxazole-3-carboxamide	IC50	11 nM	US-10226452: Benzoxazolone derivatives as acid ceramidase inhibitors, and their use as medicaments
5-cyano-2-oxo-N-(4- phenylbutyl)-1,3- benzoxazole-3-carboxamide	IC50	11 nM	US-10226452: Benzoxazolone derivatives as acid ceramidase inhibitors, and their use as medicaments
5-fluoro-2-oxo-N-(4- phenylbutyl)-1,3- benzoxazole-3-carboxamide	IC50	12 nM
CHEMBL4777626	IC50	13 nM
2-methylpropyl 5-bromo-3-(hexylcarbamoyl)-2,6-dioxo-5H-pyrimidin-3-ium-1-carboxylate	IC50	14 nM	US-9428465: Acid ceramidase inhibitors and their use as medicaments
6-(4-chlorobenzoyl)-2-oxo-N- (4-phenylbutyl)-1,3- benzoxazole-3-carboxamide	IC50	14 nM
CHEMBL4094489	IC50	14 nM
CHEMBL4754069	IC50	14 nM
5-chloro-2-oxo-N-(4- phenylbutyl)-1,3- benzoxazole-3-carboxamide	IC50	15 nM
CHEMBL4075846	IC50	15 nM
2-oxo-N-(4-phenylbutyl)-6- propanoyl-1,3-benzoxazole- 3-carboxamide	IC50	16 nM	US-10226452: Benzoxazolone derivatives as acid ceramidase inhibitors, and their use as medicaments
5,6-dichloro-2-oxo-N-(4- phenylbutyl)-1,3- benzoxazole-3-carboxamide	IC50	18 nM
7-bromo-2-oxo-N-(4- phenylbutyl)-1,3- benzoxazole-3-carboxamide	IC50	18 nM
CHEMBL4777275	IC50	18 nM
2-oxo-N-[(4- propylphenyl)methyl]-1,3- benzoxazole-3-carboxamide	IC50	19 nM
2-oxo-N-(4-phenylbutyl)-6- (trifluoromethyl)-1,3- benzoxazole-3-carboxamide	IC50	20 nM
CHEMBL4099796	IC50	21 nM
5-bromo-2-oxo-N-(4- phenylbutyl)-1,3- benzoxazole-3-carboxamide	IC50	22 nM
2-oxo-5-phenyl-N-(4- phenylbutyl)-1,3- benzoxazole-3-carboxamide	IC50	22 nM	US-10226452: Benzoxazolone derivatives as acid ceramidase inhibitors, and their use as medicaments
7-methyl-2-oxo-N-(4- phenylbutyl)-1,3- benzoxazole-3-carboxamide	IC50	23 nM
CHEMBL3739808	IC50	24 nM
CHEMBL4461146	IC50	24 nM
2-oxo-N-[4-(p-tolyl)butyl]- 1,3-benzoxazole-3- carboxamide	IC50	25 nM
CHEMBL4753638	IC50	25 nM
CHEMBL4783041	IC50	25 nM

ChEMBL bioactivities

185 potent at pChembl≥5 of 194 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.10	IC50	0.8	nM	CHEMBL3741996
9.05	IC50	0.9	nM	CHEMBL4093029
9.00	IC50	1	nM	CHEMBL4103207
8.89	IC50	1.3	nM	CHEMBL4084295
8.68	IC50	2.1	nM	CHEMBL4092051
8.66	IC50	2.2	nM	CHEMBL4062592
8.62	IC50	2.4	nM	CHEMBL4065362
8.62	IC50	2.4	nM	CHEMBL4075447
8.60	IC50	2.5	nM	CHEMBL4100744
8.52	IC50	3	nM	CHEMBL3741624
8.52	IC50	3	nM	CHEMBL3741606
8.52	IC50	3	nM	CHEMBL4580541
8.39	IC50	4.1	nM	CHEMBL4071239
8.33	IC50	4.7	nM	CHEMBL4075028
8.30	IC50	5	nM	CHEMBL4742096
8.22	IC50	6	nM	CHEMBL4592427
8.18	IC50	6.6	nM	CHEMBL66205
8.15	IC50	7	nM	CHEMBL4089655
8.15	IC50	7	nM	CHEMBL4096883
8.11	IC50	7.7	nM	CHEMBL2333055
8.08	IC50	8.3	nM	CHEMBL4076230
8.07	IC50	8.5	nM	CHEMBL4101140
8.00	IC50	9.9	nM	CHEMBL4095461
7.92	IC50	12	nM	CHEMBL3741732
7.89	IC50	12.8	nM	CHEMBL4777626
7.86	IC50	13.9	nM	CHEMBL4094489
7.85	IC50	14	nM	CHEMBL3740891
7.85	IC50	14	nM	CHEMBL3900210
7.85	IC50	14	nM	CHEMBL4754069
7.83	IC50	14.8	nM	CHEMBL4075846
7.82	IC50	15	nM	CHEMBL3740027
7.75	IC50	18	nM	CHEMBL3739503
7.75	IC50	18	nM	CHEMBL3739921
7.75	IC50	18	nM	CHEMBL3741563
7.75	IC50	18	nM	CHEMBL4777275
7.72	IC50	19	nM	CHEMBL3741565
7.70	IC50	20	nM	CHEMBL3741712
7.68	IC50	21	nM	CHEMBL4099796
7.68	IC50	20.7	nM	CARMOFUR
7.66	IC50	22	nM	CHEMBL3740148
7.65	IC50	22.5	nM	CHEMBL4076865
7.64	IC50	23	nM	CHEMBL3742201
7.62	IC50	24	nM	CHEMBL3739808
7.62	IC50	24	nM	CHEMBL4461146
7.60	IC50	25	nM	CHEMBL3739956
7.60	IC50	25	nM	CHEMBL4753638
7.60	IC50	25	nM	CHEMBL4783041
7.58	IC50	26	nM	CHEMBL5774662
7.54	IC50	29	nM	CHEMBL3740970
7.54	IC50	29	nM	CARMOFUR

PubChem BioAssay actives

167 with measured affinity, of 407 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-oxo-4-phenyl-N-(4-phenylbutyl)-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0008	uM
2-amino-N-(4-phenylbutyl)benzimidazole-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0009	uM
2-methyl-N-(4-phenylbutyl)benzimidazole-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0010	uM
N-(4-phenylbutyl)triazolo[4,5-b]pyridine-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0013	uM
N-(4-phenylbutyl)benzotriazole-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0021	uM
N-hexyltriazolo[4,5-b]pyridine-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0022	uM
2-amino-N-hexylbenzimidazole-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0024	uM
1,3-dioxo-N-(4-phenylbutyl)isoindole-2-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0024	uM
N-(4-phenylbutyl)benzimidazole-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0025	uM
5-nitro-2-oxo-N-(4-phenylbutyl)-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0030	uM
6-nitro-2-oxo-N-(4-phenylbutyl)-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0030	uM
2-oxo-N-(4-phenylbutyl)-[1,3]oxazolo[5,4-c]pyridine-1-carboxamide	1547373: Inhibition of human acid ceramidase expressed in HEK293 cells using Rbm14-12 as substrate preincubated for 10 mins followed by substrate addition and measured after 3 hrs by fluorescence assay	ic50	0.0030	uM
N-hexylbenzotriazole-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0041	uM
N-(4-phenylbutyl)indazole-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0047	uM
4-(4-chlorophenyl)-2-oxo-N-(4-phenylbutyl)-1,3-oxazole-3-carboxamide	1707275: Inhibition of human acid ceramidase using N-lauroyl ceramide incubated for 1 hr by LC/MS analysis	ic50	0.0050	uM
2-oxo-N-(4-phenylbutyl)-[1,3]oxazolo[4,5-c]pyridine-3-carboxamide	1547373: Inhibition of human acid ceramidase expressed in HEK293 cells using Rbm14-12 as substrate preincubated for 10 mins followed by substrate addition and measured after 3 hrs by fluorescence assay	ic50	0.0060	uM
N-hexylbenzimidazole-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0066	uM
N-hexyl-1,3-dioxoisoindole-2-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0070	uM
2-amino-N-[(4-methylphenyl)methyl]benzimidazole-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0070	uM
2-methylpropyl 5-fluoro-3-(hexylcarbamoyl)-2,6-dioxopyrimidine-1-carboxylate	1707268: Inhibition of human acid ceramidase	ic50	0.0077	uM
N-[(3-methylphenyl)methyl]benzimidazole-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0083	uM
2-amino-N-[(3-methylphenyl)methyl]benzimidazole-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0085	uM
N-hexylindazole-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0099	uM
5-fluoro-2-oxo-N-(4-phenylbutyl)-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0120	uM
2-methylpropyl 5-chloro-3-(hexylcarbamoyl)-2,6-dioxopyrimidine-1-carboxylate	1707268: Inhibition of human acid ceramidase	ic50	0.0128	uM
2-methoxy-N-(4-phenylbutyl)benzimidazole-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0139	uM
6-(4-chlorobenzoyl)-2-oxo-N-(4-phenylbutyl)-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0140	uM
N-hexyl-3-methyl-5-(trifluoromethyl)pyrazole-1-carboxamide	1707268: Inhibition of human acid ceramidase	ic50	0.0140	uM
N-[(4-methylphenyl)methyl]benzimidazole-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0148	uM
5-chloro-2-oxo-N-(4-phenylbutyl)-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0150	uM
7-bromo-2-oxo-N-(4-phenylbutyl)-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0180	uM
5,6-dichloro-2-oxo-N-(4-phenylbutyl)-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0180	uM
2-oxo-N-(4-phenylbutyl)-5-(trifluoromethyl)-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0180	uM
2-oxo-N-(4-phenylbutyl)-5-pyridin-4-yl-1,3-oxazole-3-carboxamide	1707275: Inhibition of human acid ceramidase using N-lauroyl ceramide incubated for 1 hr by LC/MS analysis	ic50	0.0180	uM
2-oxo-N-[(4-propylphenyl)methyl]-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0190	uM
2-oxo-N-(4-phenylbutyl)-6-(trifluoromethyl)-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0200	uM
5-fluoro-N-hexyl-2,4-dioxopyrimidine-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0207	uM
2-oxo-1-N,3-N-bis(4-phenylbutyl)benzimidazole-1,3-dicarboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0210	uM
5-bromo-2-oxo-N-(4-phenylbutyl)-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0220	uM
N-benzylbenzimidazole-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0225	uM
7-methyl-2-oxo-N-(4-phenylbutyl)-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0230	uM
5-benzoyl-2-oxo-N-(4-phenylbutyl)-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0240	uM
5-fluoro-6-(1-methylpiperidin-4-yl)-2-oxo-N-(4-phenylbutyl)-1,3-benzoxazole-3-carboxamide	1547373: Inhibition of human acid ceramidase expressed in HEK293 cells using Rbm14-12 as substrate preincubated for 10 mins followed by substrate addition and measured after 3 hrs by fluorescence assay	ic50	0.0240	uM
N-[4-(4-methylphenyl)butyl]-2-oxo-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0250	uM
2-oxo-N-pentyl-4-phenyl-1,3-oxazole-3-carboxamide	1707275: Inhibition of human acid ceramidase using N-lauroyl ceramide incubated for 1 hr by LC/MS analysis	ic50	0.0250	uM
2-oxo-N-(4-phenylbutyl)-5-pyridin-2-yl-1,3-oxazole-3-carboxamide	1707275: Inhibition of human acid ceramidase using N-lauroyl ceramide incubated for 1 hr by LC/MS analysis	ic50	0.0250	uM
6-benzoyl-2-oxo-N-(4-phenylbutyl)-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0290	uM
2-amino-N-benzylbenzimidazole-1-carboxamide	1445366: Inhibition of human C-terminal His-tagged acid ceramidase variant 1 expressed in HEK293 cells using fluorogenic substrate Rbm-14-12 preincubated for 30 mins followed by substrate addition measured after 1 hr by fluorogenic assay	ic50	0.0293	uM
6-fluoro-2-oxo-N-(4-phenylbutyl)-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0310	uM
6-bromo-2-oxo-N-(4-phenylbutyl)-1,3-benzoxazole-3-carboxamide	1265564: Inhibition of recombinant human acid ceramidase expressed in HEK293 cells using N-[(1S,2R)-2-hydroxy-1-(hydroxymethyl)-4-(2-oxochromen-7-yl)-oxybutyl]dodecanamide substrate preincubated for 10 mins	ic50	0.0310	uM

CTD chemical–gene interactions

97 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression, decreases methylation, increases expression	6
Valproic Acid	affects expression, decreases methylation, increases expression	5
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression, affects expression	4
Amitriptyline	increases expression	3
Tamoxifen	increases expression	3
Arsenic Trioxide	increases expression	2
Air Pollutants	decreases expression, affects cotreatment, increases abundance, increases expression	2
Amiodarone	increases expression	2
trans-1,4-Bis(2-chlorobenzaminomethyl)cyclohexane Dihydrochloride	increases expression	2
Benzo(a)pyrene	affects methylation, increases mutagenesis	2
Clozapine	increases expression	2
Flecainide	increases expression	2
Fluorouracil	affects response to substance, affects reaction, decreases expression	2
Fluoxetine	increases expression	2
Imipramine	increases expression	2
Perhexiline	increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	decreases expression, increases abundance	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Tretinoin	increases expression	2
Zimeldine	increases expression	2
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
apocarotenal	increases expression	1
lasiocarpine	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, increases expression	1
beta-lapachone	increases expression	1
manganese chloride	increases abundance, increases expression	1
sulindac sulfide	decreases expression	1

ChEMBL screening assays

111 unique, capped per target: 108 binding, 3 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1022222	Binding	Inhibition of acid ceramidase in human MCF7 cell lysate at 50 uM by scintillation counting	Synthesis and bioevaluation of omega-N-amino analogs of B13. — *Bioorg Med Chem*
CHEMBL5723203	Functional	Affinity Biochemical interaction: (inhibition of substrate hydrolysis determined through mass spectrometry) EUB0002527a ASAH1	Affinity Biochemical Literature for EUbOPEN Chemogenomic Library

Cellosaurus cell lines

13 cell lines: 6 finite cell line, 4 cancer cell line, 2 induced pluripotent stem cell, 1 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_8A65	GM02315	Finite cell line	Female
CVCL_8A69	GM20015	Finite cell line	Male
CVCL_8A70	GM20016	Finite cell line	Female
CVCL_8A71	GM20017	Finite cell line	Male
CVCL_8A72	GM20018	Finite cell line	Female
CVCL_8A73	GM20019	Finite cell line	Female
CVCL_A8PD	TRNDi030-A	Induced pluripotent stem cell	Male
CVCL_B7W1	Abcam Raji ASAH1 KO	Cancer cell line	Male
CVCL_B9WJ	Abcam THP-1 ASAH1 KO	Cancer cell line	Male
CVCL_C0KA	AIW002-02/ASAH1-KO	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 69 trials:

NCT	Phase	Status	Title
NCT03490487	Phase 4	UNKNOWN	Electroclinical Effect of Steroid in Patients With Benign Childhood Epilepsy With Centrotemporal Spikes
NCT04610879	Phase 4	TERMINATED	Changing Agendas on Sleep, Treatment and Learning in Epilepsy
NCT03414970	Phase 3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00654433	Phase 3	TERMINATED	ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
NCT04283227	Phase 3	ACTIVE_NOT_RECRUITING	OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD)
NCT00461344	Phase 2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	Phase 2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT03392987	Phase 2	COMPLETED	A Safety and Efficacy Study of Cryopreserved OTL-200 for Treatment of Metachromatic Leukodystrophy (MLD)
NCT06130228	Phase 2	UNKNOWN	Nutritional Therapy in Late-onset Pompe Disease
NCT07740512	Phase 2	NOT_YET_RECRUITING	Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol)
NCT00215527	Phase 1	TERMINATED	Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I
NCT00744692	Phase 1	COMPLETED	Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders
NCT00786968	Phase 1	TERMINATED	Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I
NCT01003912	Phase 1	WITHDRAWN	Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases
NCT03233841	Not specified	COMPLETED	Farber Disease Natural History Study
NCT07173010	Not specified	NOT_YET_RECRUITING	Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital
NCT00637364	Phase 1/2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	Phase 1/2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	Early Phase 1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	Early Phase 1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT07628634	Early Phase 1	RECRUITING	Feasibility Study on the Effect of a Methionine-Reduced Diet on Serum Levels in Pts w/ Solid Tumors
NCT01208974	Not specified	COMPLETED	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery
NCT01560182	Phase 1/2	COMPLETED	Gene Therapy for Metachromatic Leukodystrophy (MLD)
NCT03897361	Phase 1/2	COMPLETED	Stem Cell Gene Therapy for Cystinosis
NCT03952637	Phase 1/2	RECRUITING	A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis
NCT04040049	Phase 1/2	TERMINATED	A Fabry Disease Gene Therapy Study
NCT04093349	Phase 1/2	ACTIVE_NOT_RECRUITING	A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)
NCT04455230	Phase 1/2	TERMINATED	A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190
NCT00001215	Not specified	ENROLLING_BY_INVITATION	Genetic Studies of Lysosomal Storage Disorders
NCT00001671	Not specified	COMPLETED	The Classification and Cause of Leukodystrophies of Unknown Cause
NCT00001780	Not specified	COMPLETED	Magnetic Stimulation of the Human Nervous System
NCT00046202	Not specified	TERMINATED	Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
NCT00852358	Not specified	COMPLETED	A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I
NCT01458613	Not specified	WITHDRAWN	Biomarker for Maroteaux-Lamy Disease (BioMaroteaux)
NCT01626092	Not specified	COMPLETED	Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders
NCT01963650	Not specified	TERMINATED	Natural History Study of Children With Metachromatic Leukodystrophy
NCT02000310	Not specified	UNKNOWN	Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
NCT02120235	Not specified	UNKNOWN	Investigating Lysosomal Storage Diseases in Minority Groups
NCT02363153	Not specified	COMPLETED	Diet and Exercise in Pompe Disease
NCT02416661	Not specified	COMPLETED	Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease
NCT03333200	Not specified	RECRUITING	Longitudinal Study of Neurodegenerative Disorders
NCT03639844	Not specified	NO_LONGER_AVAILABLE	BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 Study
NCT03812042	Not specified	UNKNOWN	Screening of Lysosomal Storage Disorders Diseases in Minority Groups
NCT03812055	Not specified	UNKNOWN	Cellular Pharmacodynamics of Small Molecules in Lysosomal Storage Disorders
NCT03853876	Not specified	TERMINATED	A Natural History Study of Aspartylglucosaminuria
NCT03893240	Not specified	COMPLETED	Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease
NCT04189601	Not specified	WITHDRAWN	Complement Activation in the Lysosomal Storage Disorders
NCT04393701	Not specified	RECRUITING	A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
NCT04399694	Not specified	COMPLETED	Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders
NCT04943991	Not specified	UNKNOWN	Fabry Disease in High-risk Patients With Left Ventricular Hypertrophy: Prevalence and Implementation of a Clinical Score
NCT05431127	Not specified	COMPLETED	High Dose Inspiratory Muscle Training in LOPD
NCT07494058	Not specified	TERMINATED	A Study of Home vs Hospital Treatment in People With Fabry, Gaucher or Hunter Conditions in Mexico
NCT01046760	Not specified	UNKNOWN	Scholar Performance and Praxis Assessment in Children With Rolandic Epilepsy
NCT01335425	Not specified	COMPLETED	The Rolandic Epilepsy/ESES/Landau-Kleffner Syndrome and Correlation With Language Impairment Study
NCT01515436	Not specified	COMPLETED	The Effect of Music Periodicity on Interictal Epileptiform Discharges
NCT03465566	Not specified	UNKNOWN	Emotion Recognition in Benign Epilepsy of Childhood With Centro-Temporal Spikes (BECTS)
NCT03547050	Not specified	COMPLETED	Rolandic Epilepsy Genomewide Association International Study

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for ASAH1 across ~30M SureChEMBL compounds — explore on Sugi Predict.