SPTLC2

Summary

SPTLC2 (serine palmitoyltransferase long chain base subunit 2, HGNC:11278) is a protein-coding gene on chromosome 14q24.3, encoding Serine palmitoyltransferase 2 (O15270). Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-chain bases.

This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I.

Source: NCBI Gene 9517 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neuropathy, hereditary sensory and autonomic, type 1C (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 707 total — 5 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 47
• Druggable target: yes
• MANE Select transcript: NM_004863

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11278
Approved symbol	SPTLC2
Name	serine palmitoyltransferase long chain base subunit 2
Location	14q24.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0526, LCB2, LCB2A, hLCB2a
Ensembl gene	ENSG00000100596
Ensembl biotype	protein_coding
OMIM	605713
Entrez	9517

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 6 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000216484, ENST00000554365, ENST00000554901, ENST00000556607, ENST00000557566, ENST00000686627, ENST00000686959, ENST00000687688, ENST00000691887, ENST00000692906, ENST00000865813, ENST00000921639, ENST00000950639, ENST00000950640

RefSeq mRNA: 1 — MANE Select: NM_004863 NM_004863

CCDS: CCDS9865

Canonical transcript exons

ENST00000216484 — 12 exons

Exon	Start	End
ENSE00000659347	77521446	77521581
ENSE00000659348	77552096	77552222
ENSE00000659352	77557041	77557146
ENSE00000659356	77570384	77570508
ENSE00000659358	77576767	77576915
ENSE00000659360	77578955	77579109
ENSE00000659362	77597186	77597380
ENSE00001094167	77616448	77616637
ENSE00001202072	77505997	77512403
ENSE00001793911	77562396	77562489
ENSE00003566531	77518038	77518167
ENSE00003623203	77555300	77555519

Expression profiles

Bgee: expression breadth ubiquitous, 274 present calls, max score 96.79.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.2863 / max 1155.0467, expressed in 1822 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144242	12.8660	1789
144241	11.0259	1743
144243	10.8154	1745
144244	0.5006	252
144239	0.4514	80
144240	0.3523	195
207312	0.2695	104
144238	0.0052	1

Top tissues by expression

296 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	96.79	gold quality
inferior vagus X ganglion	UBERON:0005363	95.46	gold quality
medial globus pallidus	UBERON:0002477	94.72	gold quality
monocyte	CL:0000576	94.56	gold quality
globus pallidus	UBERON:0001875	94.12	gold quality
mononuclear cell	CL:0000842	93.86	gold quality
leukocyte	CL:0000738	93.67	gold quality
lower esophagus mucosa	UBERON:0035834	92.63	gold quality
subthalamic nucleus	UBERON:0001906	92.46	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.26	gold quality
spinal cord	UBERON:0002240	91.77	gold quality
adrenal tissue	UBERON:0018303	91.17	gold quality
stromal cell of endometrium	CL:0002255	91.06	gold quality
buccal mucosa cell	CL:0002336	90.79	gold quality
substantia nigra pars reticulata	UBERON:0001966	90.47	gold quality
blood	UBERON:0000178	90.46	gold quality
bone marrow	UBERON:0002371	90.21	gold quality
bone marrow cell	CL:0002092	90.04	gold quality
ventral tegmental area	UBERON:0002691	90.00	gold quality
lateral globus pallidus	UBERON:0002476	89.95	gold quality
dorsal plus ventral thalamus	UBERON:0001897	89.41	gold quality
substantia nigra pars compacta	UBERON:0001965	89.08	gold quality
pons	UBERON:0000988	89.04	gold quality
superior vestibular nucleus	UBERON:0007227	88.58	gold quality
granulocyte	CL:0000094	88.52	gold quality
rectum	UBERON:0001052	88.52	gold quality
colonic epithelium	UBERON:0000397	88.21	gold quality
ileal mucosa	UBERON:0000331	88.07	gold quality
penis	UBERON:0000989	88.05	gold quality
medulla oblongata	UBERON:0001896	87.99	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	19.58
E-ANND-3	yes	12.40
E-MTAB-8410	no	3.12

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): IRF6, NFKB

miRNA regulators (miRDB)

306 targeting SPTLC2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-150-5P	99.99	66.69	1976
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-4482-3P	99.98	72.50	3147
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-302E	99.96	70.74	2669

Literature-anchored findings (GeneRIF, showing 19)

• results suggest that SPTLC2 mutations are not a common cause for genetic sensory neuropathies. (PMID:12207934)
• an increase in transepidermal water loss is an obligatory trigger for the upregulation of serine palmitoyltransferase mRNA expression in human epidermis (PMID:12445191)
• Results suggest that functional serine palmitoyltransferase is not a dimer, but a higher organized complex, composed of three distinct subunits (SPTLC1, SPTLC2 and SPTLC3) with a molecular mass of 480 kDa. (PMID:17331073)
• discovery of 2 proteins, ssSPTa and ssSPTb, which each interacts with both hLCB1 and hLCB2, suggesting that there are 4 distinct human SPT isozymes. (PMID:19416851)
• Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. (PMID:20920666)
• Mutations in SPTLC2 are associated with increased deoxySL formation causing hereditary sensory and autonomic neuropathy type 1 (HSANI) in a familial study. (PMID:23658386)
• The activities of the hLCB2a mutants were measured in the presence of ssSPTa and ssSPTb and was found that all decrease enzyme activity. (PMID:24175284)
• 2 families had late-onset autosomal dominant HSAN1C caused by a new variant in SPTLC2, c.547C>T, p.(Arg183Trp). The variant changed a conserved amino acid. (PMID:26573920)
• HSAN-I-associated mutations in serine palmitoyltransferase subunit SPTLC2 dampened human T cell responses. SPTLC2 underpins protective immunity by translating extracellular stimuli into intracellular anabolic signals and antagonizes endoplasmic reticulum stress to promote T cell metabolic fitness. (PMID:30952607)
• A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C. (PMID:30955194)
• Elevated levels of atypical deoxysphingolipids, caused by variant SPTLC1 or SPTLC2 or by low serine levels, were risk factors for macular telangiectasia type 2, as well as for peripheral neuropathy. (PMID:31509666)
• Increased expression of serine palmitoyl transferase and ORMDL3 polymorphism are associated with eosinophilic inflammation and airflow limitation in aspirin-exacerbated respiratory disease. (PMID:33031402)
• Structural insights into the assembly and substrate selectivity of human SPT-ORMDL3 complex. (PMID:33558762)
• Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort. (PMID:34090020)
• Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis. (PMID:36966328)
• Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family. (PMID:37107689)
• Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis. (PMID:38041679)
• Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis. (PMID:38041684)
• SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis. (PMID:38316966)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	sptlc2a	ENSDARG00000018976
danio_rerio	sptlc2b	ENSDARG00000074287
mus_musculus	Sptlc2	ENSMUSG00000021036
rattus_norvegicus	Sptlc2	ENSRNOG00000012210

Paralogs (5): ALAS1 (ENSG00000023330), SPTLC1 (ENSG00000090054), GCAT (ENSG00000100116), ALAS2 (ENSG00000158578), SPTLC3 (ENSG00000172296)

Protein

Protein identifiers

Serine palmitoyltransferase 2 — O15270 (reviewed: O15270)

Alternative names: Long chain base biosynthesis protein 2, Long chain base biosynthesis protein 2a, Serine-palmitoyl-CoA transferase 2

All UniProt accessions (3): O15270, H0YJ96, H0YJV2

UniProt curated annotations — full annotation on UniProt →

Function. Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-chain bases. The SPT complex is composed of SPTLC1, SPTLC2 or SPTLC3 and SPTSSA or SPTSSB. Within this complex, the heterodimer consisting of SPTLC1 and SPTLC2/SPTLC3 forms the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference. Crucial for adipogenesis.

Subunit / interactions. Component of the serine palmitoyltransferase (SPT) complex, which is composed of SPTLC1, SPTLC2 or SPTLC3 and SPTSSA or SPTSSB. The heterodimer consisting of SPTLC1 and SPTLC2/SPTLC3 forms the catalytic core of the enzyme, while SPTSSA or SPTSSB subunits determine substrate specificity. SPT also interacts with ORMDL proteins, especially ORMDL3, which negatively regulate SPT activity in the presence of ceramides. Forms dimers of heterodimers with SPTLC1.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Widely expressed.

Disease relevance. Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640] A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness. The disease is caused by variants affecting the gene represented in this entry. SPTLC2 disease mutations cause a shift in the substrate specificity of SPT resulting in the alternative use of L-alanine and L-glycine over its canonical substrate L-serine. This leads to the production of 1-deoxysphingolipids that cannot be correctly metabolized.

Activity regulation. SPT complex catalytic activity is negatively regulated by ORMDL proteins, including ORMDL3, in the presence of ceramides. This mechanism allows to maintain ceramide levels at sufficient concentrations for the production of complex sphingolipids, but which prevents the accumulation of ceramides to levels that trigger apoptosis.

Induction. Expression at protein level is highly increased in brains of patients with Alzheimer disease. No changes are observed at mRNA level.

Pathway. Lipid metabolism; sphingolipid metabolism.

Similarity. Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.

RefSeq proteins (1): NP_004854* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001917	Aminotrans_II_pyridoxalP_BS	Binding_site
IPR004839	Aminotransferase_I/II_large	Domain
IPR015421	PyrdxlP-dep_Trfase_major	Homologous_superfamily
IPR015422	PyrdxlP-dep_Trfase_small	Homologous_superfamily
IPR015424	PyrdxlP-dep_Trfase	Homologous_superfamily
IPR050087	AON_synthase_class-II	Family

Pfam: PF00155

Enzyme classification (BRENDA):

• EC 2.3.1.50 — serine C-palmitoyltransferase (BRENDA: 23 organisms, 127 substrates, 64 inhibitors, 70 Km, 38 kcat entries)

Substrate kinetics (BRENDA)

13 substrates with measured Km, best-characterized 13. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
L-SERINE	0.26–10.6	28
PALMITOYL-COA	0.019–1.2	18
MYRISTOYL-COA	0.03–0.097	3
CAPROYL-COA	0.68–0.9	2
L-ALANINE	9.6–110	2
LAUROYL-COA	0.25–0.56	2
GLYCINE	77	1
L-HOMOSERINE	82	1
STEAROYL-COA	0.0129	1
[1,2,3-13C,2-15N] L-SERINE	1.79	1
[2,3,3-D] L-SERINE	4.09	1
[2-13C] L-SERINE	3.64	1
[3,3-D] L-SERINE	2.72	1

Catalyzed reactions (Rhea), 2 shown:

• L-serine + hexadecanoyl-CoA + H(+) = 3-oxosphinganine + CO2 + CoA (RHEA:14761)
• octadecanoyl-CoA + L-serine + H(+) = 3-oxoeicosasphinganine + CO2 + CoA (RHEA:33683)

UniProt features (79 total): strand 23, helix 21, mutagenesis site 15, turn 10, sequence variant 5, sequence conflict 2, chain 1, transmembrane region 1, modified residue 1

Structure

Experimental structures (PDB)

17 structures.

PDB	Method	Resolution (Å)
7K0K	ELECTRON MICROSCOPY	2.6
7YIY	ELECTRON MICROSCOPY	2.7
7K0M	ELECTRON MICROSCOPY	2.9
7YIU	ELECTRON MICROSCOPY	2.9
7YJ2	ELECTRON MICROSCOPY	2.9
7K0J	ELECTRON MICROSCOPY	3.1
7K0N	ELECTRON MICROSCOPY	3.1
7K0O	ELECTRON MICROSCOPY	3.1
7K0P	ELECTRON MICROSCOPY	3.1
7YJ1	ELECTRON MICROSCOPY	3.1
7CQI	ELECTRON MICROSCOPY	3.2
7CQK	ELECTRON MICROSCOPY	3.3
7K0I	ELECTRON MICROSCOPY	3.3
7K0Q	ELECTRON MICROSCOPY	3.3
6M4O	ELECTRON MICROSCOPY	3.4
7K0L	ELECTRON MICROSCOPY	3.4
6M4N	ELECTRON MICROSCOPY	3.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15270-F1	86.47	0.74

Functional residue map

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

Post-translational modifications (1): 379

Mutagenesis-validated functional residues (15):

Position	Phenotype
130	loss of catalytic activity with l-serine and palmitoyl-coa as substrates.
134	loss of catalytic activity with l-serine and palmitoyl-coa as substrates.
176	loss of catalytic activity with l-serine and palmitoyl-coa as substrates.
258	loss of catalytic activity with l-serine and palmitoyl-coa as substrates.
302	reduces the dimerization propensity with sptlc1; reduces the dimerization propensity with sptlc1; when associated with a
304	reduces the dimerization propensity with sptlc1; when associated with a-302 and a-304. does not impair enzymatic activit
305	reduces the dimerization propensity with sptlc1; when associated with a-302 and a-304. does not impair enzymatic activit
320	decreased catalytic activity with l-serine and palmitoyl-coa as substrates.
378	decreased catalytic activity with l-serine and palmitoyl-coa as substrates.
379	loss of catalytic activity with l-serine and palmitoyl-coa as substrates.
479	loss of catalytic activity with l-serine and palmitoyl-coa as substrates.
503	loss of negative regulation by omrdl3 and ceramides.
509	loss of catalytic activity with l-serine and palmitoyl-coa as substrates.
122	decreased catalytic activity with l-serine and palmitoyl-coa as substrates. does not affect the negative regulation by o
126	some decrease in catalytic activity with l-serine and palmitoyl-coa as substrates.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-1660661	Sphingolipid de novo biosynthesis
R-HSA-1430728	Metabolism
R-HSA-428157	Sphingolipid metabolism
R-HSA-556833	Metabolism of lipids

MSigDB gene sets: 423 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, CGGAARNGGCNG_UNKNOWN, GOBP_SPHINGOMYELIN_METABOLIC_PROCESS, GOBP_POLYOL_METABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, AAAYRNCTG_UNKNOWN, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, CEBPB_01, GOBP_MACROAUTOPHAGY, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS

GO Biological Process (10): sphingomyelin biosynthetic process (GO:0006686), sphingolipid biosynthetic process (GO:0030148), sphinganine biosynthetic process (GO:0046511), sphingosine biosynthetic process (GO:0046512), ceramide biosynthetic process (GO:0046513), adipose tissue development (GO:0060612), positive regulation of lipophagy (GO:1904504), lipid metabolic process (GO:0006629), sphingolipid metabolic process (GO:0006665), biosynthetic process (GO:0009058)

GO Molecular Function (5): serine C-palmitoyltransferase activity (GO:0004758), pyridoxal phosphate binding (GO:0030170), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

GO Cellular Component (4): endoplasmic reticulum membrane (GO:0005789), serine palmitoyltransferase complex (GO:0017059), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Sphingolipid metabolism	1
Metabolism of lipids	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sphingolipid biosynthetic process	2
diol biosynthetic process	2
sphingoid biosynthetic process	2
sphingomyelin metabolic process	1
phospholipid biosynthetic process	1
sphingolipid metabolic process	1
lipid biosynthetic process	1
sphinganine metabolic process	1
sphingosine metabolic process	1
ceramide metabolic process	1
animal organ development	1
connective tissue development	1
positive regulation of macroautophagy	1
lipophagy	1
regulation of lipophagy	1
primary metabolic process	1
lipid metabolic process	1
metabolic process	1
C-palmitoyltransferase activity	1
anion binding	1
vitamin B6 binding	1
binding	1
catalytic activity	1
transferase activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
palmitoyltransferase complex	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2090 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SPTLC2	SPTSSA	Q969W0	994
SPTLC2	SPTLC1	O15269	987
SPTLC2	SPTSSB	Q8NFR3	978
SPTLC2	ORM1	P02763	910
SPTLC2	ORMDL3	Q8N138	880
SPTLC2	ORMDL1	Q9P0S3	874
SPTLC2	TLCD3B	Q71RH2	872
SPTLC2	ORMDL2	Q53FV1	855
SPTLC2	UGCG	Q16739	825
SPTLC2	SMPD1	P17405	798
SPTLC2	CERS6	Q6ZMG9	797
SPTLC2	KDSR	Q06136	796
SPTLC2	SMPD2	O60906	787
SPTLC2	CERK	Q8TCT0	786
SPTLC2	DEGS1	O15121	768
SPTLC2	SPHK1	Q9NYA1	768

IntAct

114 interactions, top by confidence:

A	B	Type	Score
ORMDL3	SPTLC1	psi-mi:“MI:0915”(physical association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
SPTLC1	SPTLC2	psi-mi:“MI:0915”(physical association)	0.680
SPTLC1	SPTLC2	psi-mi:“MI:0914”(association)	0.680
SPTLC2	SPTLC1	psi-mi:“MI:0914”(association)	0.680
SPINT2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
EVA1C	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
LRRTM1	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
FAM241A	NRP1	psi-mi:“MI:0914”(association)	0.530
TMEM63A	AP3D1	psi-mi:“MI:0914”(association)	0.530
FAM241A	SPTLC2	psi-mi:“MI:0914”(association)	0.530
EVA1C	STK25	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
UNC93B1	GPR89A	psi-mi:“MI:0914”(association)	0.530
ROM1	SPTLC2	psi-mi:“MI:0915”(physical association)	0.400
SPTLC2	SPTSSB	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (131): SPTLC2 (Reconstituted Complex), SPTLC2 (Affinity Capture-MS), SPTLC2 (Affinity Capture-MS), SPTLC2 (Affinity Capture-MS), SPTLC2 (Affinity Capture-MS), SPTLC2 (Affinity Capture-MS), SPTLC2 (Affinity Capture-MS), SPTLC2 (Affinity Capture-MS), SPTLC2 (Affinity Capture-MS), SPTLC2 (Synthetic Lethality), SPTLC2 (Affinity Capture-MS), SPTLC2 (Affinity Capture-MS), SPTLC2 (Affinity Capture-MS), SPTLC2 (Affinity Capture-MS), SPTLC2 (Affinity Capture-MS)

ESM2 similar proteins: D4A2H2, O14209, O15269, O15270, O35704, O54694, O54695, O88533, O95470, P04694, P14173, P17735, P20711, P34106, P52894, P70712, P91079, P97363, Q00379, Q07262, Q08415, Q10P01, Q16719, Q17CS8, Q28DB5, Q2R3K3, Q3B7D2, Q3MHG1, Q4V831, Q58CZ9, Q58FK9, Q5E9S4, Q5JK39, Q5R4G0, Q5R9T5, Q60HD1, Q6GM82, Q6K8E7, Q6NYL5, Q7G4P2

Diamond homologs: A0RIB9, A2SD53, A3DBD5, A5G6I9, A6LMP4, A6TU88, A7BFV6, A7BFV7, A7BFV8, A7HG96, A7HMM1, A7LXM2, A7Z4X1, A8MEX7, A9W106, B0C205, B0K590, B0KC20, B0SZS9, B1I4F9, B1Z7Y8, B4UCB1, B5EEV8, B5ELF7, B7HAZ0, B7ID58, B7IWN1, B7J3Y7, B7JLX2, B7L0L2, B8GVE2, B8J637, B9M8U3, D4A2H2, O15269, O15270, O35704, O54694, O54695, O59682

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 109 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Sphingolipid de novo biosynthesis	5	24.6×	2e-04
R-HSA-425366	5	15.6×	1e-03
SLC-mediated transmembrane transport	7	7.1×	2e-03
Neuronal System	7	5.3×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
sphingolipid biosynthetic process	5	20.6×	1e-03
amino acid transport	5	17.9×	2e-03
sodium ion transmembrane transport	5	11.7×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	2
Uncertain significance	347
Likely benign	180
Benign	113

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
208302	NM_004863.4(SPTLC2):c.544G>C (p.Ala182Pro)	Pathogenic
2736856	NM_004863.4(SPTLC2):c.131A>G (p.Gln44Arg)	Pathogenic
374512	NM_004863.4(SPTLC2):c.1148C>T (p.Ala383Val)	Pathogenic
4070966	NM_004863.4(SPTLC2):c.640G>A (p.Asp214Asn)	Pathogenic
4799	NM_004863.4(SPTLC2):c.1510A>T (p.Ile504Phe)	Pathogenic
1685455	NM_004863.4(SPTLC2):c.545C>T (p.Ala182Val)	Likely pathogenic
857284	NM_004863.4(SPTLC2):c.1144G>C (p.Gly382Arg)	Likely pathogenic

SpliceAI

2708 predictions. Top by Δscore:

Variant	Effect	Δscore
14:77518034:TTA:T	donor_loss	1.0000
14:77518036:A:AC	donor_gain	1.0000
14:77518037:C:CT	donor_gain	1.0000
14:77518037:CA:C	donor_gain	1.0000
14:77518037:CAG:C	donor_gain	1.0000
14:77518037:CAGT:C	donor_gain	1.0000
14:77518037:CAGTA:C	donor_gain	1.0000
14:77518164:GGCG:G	acceptor_gain	1.0000
14:77518166:CG:C	acceptor_gain	1.0000
14:77521439:AACGT:A	donor_loss	1.0000
14:77521440:ACGT:A	donor_loss	1.0000
14:77521441:CGTA:C	donor_loss	1.0000
14:77521442:GTA:G	donor_loss	1.0000
14:77521443:TA:T	donor_loss	1.0000
14:77521444:A:AC	donor_gain	1.0000
14:77521444:AC:A	donor_gain	1.0000
14:77521445:C:CC	donor_gain	1.0000
14:77521445:CC:C	donor_gain	1.0000
14:77521445:CCCA:C	donor_gain	1.0000
14:77521445:CCCAA:C	donor_gain	1.0000
14:77521480:C:CT	donor_gain	1.0000
14:77521481:T:TT	donor_gain	1.0000
14:77521591:CACGG:C	acceptor_gain	1.0000
14:77521594:G:T	acceptor_gain	1.0000
14:77552089:GACTT:G	donor_loss	1.0000
14:77552090:ACTT:A	donor_loss	1.0000
14:77552091:CTTA:C	donor_loss	1.0000
14:77552092:TTACC:T	donor_loss	1.0000
14:77552093:TA:T	donor_loss	1.0000
14:77552094:A:AC	donor_gain	1.0000

AlphaMissense

3658 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:77518113:A:C	F498L	1.000
14:77518113:A:T	F498L	1.000
14:77518115:A:G	F498L	1.000
14:77518117:C:T	G497E	1.000
14:77555516:C:A	M320I	1.000
14:77555516:C:G	M320I	1.000
14:77555516:C:T	M320I	1.000
14:77562457:A:C	H263Q	1.000
14:77562457:A:T	H263Q	1.000
14:77562459:G:C	H263D	1.000
14:77562460:A:C	N262K	1.000
14:77562460:A:T	N262K	1.000
14:77562470:T:A	D259V	1.000
14:77562471:C:G	D259H	1.000
14:77597259:C:T	G85E	1.000
14:77512379:C:A	G532W	0.999
14:77518074:G:C	C511W	0.999
14:77518081:C:A	R509M	0.999
14:77518086:T:A	R507S	0.999
14:77518086:T:G	R507S	0.999
14:77518087:C:A	R507I	0.999
14:77518087:C:G	R507T	0.999
14:77518099:A:T	I503N	0.999
14:77518108:G:T	A500D	0.999
14:77518111:G:T	P499H	0.999
14:77518112:G:A	P499S	0.999
14:77518114:A:C	F498C	0.999
14:77518115:A:C	F498V	0.999
14:77518115:A:T	F498I	0.999
14:77518118:C:G	G497R	0.999

dbSNP variants (sampled 300 via entrez): RS1000030060 (14:77529579 T>C), RS1000036105 (14:77567705 C>T), RS1000101997 (14:77607294 C>G,T), RS1000152087 (14:77520763 G>A), RS1000154287 (14:77607723 C>G,T), RS1000180867 (14:77559890 C>A), RS1000201734 (14:77520525 C>G,T), RS1000209175 (14:77516405 T>A,C), RS1000212638 (14:77561847 C>G), RS1000215651 (14:77507322 C>T), RS1000242461 (14:77562152 C>G,T), RS1000313339 (14:77604915 T>C), RS1000321238 (14:77516543 G>C), RS1000332463 (14:77516936 A>C), RS1000343198 (14:77534504 G>T)

Disease associations

OMIM: gene MIM:605713 | disease phenotypes: MIM:613640, MIM:143890, MIM:118220

GenCC curated gene-disease

Disease	Classification	Inheritance
neuropathy, hereditary sensory and autonomic, type 1C	Definitive	Autosomal dominant
hereditary sensory and autonomic neuropathy type 1	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
neuropathy, hereditary sensory and autonomic, type 1C	Definitive	AD
amyotrophic lateral sclerosis	Strong	AD

Mondo (4): neuropathy, hereditary sensory and autonomic, type 1C (MONDO:0013337), hypercholesterolemia, familial, 1 (MONDO:0007750), Charcot-Marie-Tooth disease (MONDO:0015626), hereditary sensory and autonomic neuropathy type 1 (MONDO:0018213)

Orphanet (3): Hereditary sensory and autonomic neuropathy type 1 (Orphanet:36386), Homozygous familial hypercholesterolemia (Orphanet:391665), Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166)

HPO phenotypes

47 total (30 of 47 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000365	Hearing impairment
HP:0000962	Hyperkeratosis
HP:0000970	Anhidrosis
HP:0001026	Penetrating foot ulcers
HP:0001058	Poor wound healing
HP:0001324	Muscle weakness
HP:0002020	Gastroesophageal reflux
HP:0002141	Gait imbalance
HP:0002166	Impaired vibration sensation in the lower limbs
HP:0002270	Abnormality of the autonomic nervous system
HP:0002460	Distal muscle weakness
HP:0002540	Inability to walk
HP:0002600	Hyporeflexia of lower limbs
HP:0002754	Osteomyelitis
HP:0002756	Pathologic fracture
HP:0002821	Neuropathic arthropathy
HP:0002936	Distal sensory impairment
HP:0003376	Steppage gait
HP:0003409	Distal sensory impairment of all modalities
HP:0003431	Decreased motor nerve conduction velocity
HP:0003596	Middle age onset
HP:0003621	Juvenile onset
HP:0003693	Distal amyotrophy
HP:0006937	Impaired distal tactile sensation
HP:0007002	Motor axonal neuropathy
HP:0007021	Pain insensitivity
HP:0007078	Decreased amplitude of sensory action potentials
HP:0007141	Sensorimotor neuropathy
HP:0007328	Impaired pain sensation

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST010396_96	Gut microbiota (bacterial taxa, hurdle binary method)	1.000000e-06
GCST90002404_353	Red cell distribution width	3.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement
EFO:0009188	Red cell distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D002607	Charcot-Marie-Tooth Disease	C10.500.300.200; C10.574.500.495.200; C10.668.829.800.300.200; C16.131.666.300.200; C16.320.400.375.200

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1250344 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

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

Target class: enzyme — Serine palmitoyltransferase

ChEMBL bioactivities

20 potent at pChembl≥5 of 20 total, top 20 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.89	IC50	0.13	nM	MYRIOCIN
9.62	IC50	0.24	nM	CHEMBL5561881
9.44	IC50	0.36	nM	CHEMBL4228416
9.29	IC50	0.51	nM	CHEMBL4228472
9.27	IC50	0.54	nM	CHEMBL4225519
9.15	IC50	0.71	nM	CHEMBL4228472
9.12	IC50	0.76	nM	CHEMBL4225519
9.10	IC50	0.8	nM	CHEMBL5565596
8.92	IC50	1.2	nM	CHEMBL4225462
8.92	IC50	1.2	nM	CHEMBL4225764
8.30	IC50	5	nM	CHEMBL4229253
8.29	IC50	5.1	nM	CHEMBL4225192
8.11	IC50	7.7	nM	CHEMBL4226297
8.00	IC50	10	nM	CHEMBL1241090
7.61	Kd	24.6	nM	CHEMBL5653589
7.57	ED50	26.74	nM	CHEMBL5653589
6.66	IC50	220	nM	CHEMBL4228993
6.19	IC50	650	nM	CHEMBL4226045
5.55	IC50	2800	nM	CHEMBL4229268
5.52	IC50	3000	nM	CHEMBL4227637

PubChem BioAssay actives

19 with measured affinity, of 21 total; 17 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
(E,2S,3R,4R)-2-amino-3,4-dihydroxy-2-(hydroxymethyl)-14-oxoicos-6-enoic acid	1392237: Inhibition of human SPT2 transfected in Freestyle293 cells using L-serine and palmitoyl-CoA as substrate preincubated for 60 mins followed by substrate addition measured after 15 mins by mass spectrometric analysis	ic50	0.0001	uM
N-[(7S)-1-[5-[3-(2,2-difluoro-10,12-dimethyl-1-aza-3-azonia-2-boranuidatricyclo[7.3.0.03,7]dodeca-3,5,7,9,11-pentaen-4-yl)propanoylamino]pentyl]-4-(3,4-dimethoxybenzoyl)-6,7-dihydro-5H-pyrazolo[4,5-b]pyridin-7-yl]-2-(trifluoromethoxy)benzamide	2084120: Inhibition of SPTLC2 (unknown origin)	ic50	0.0002	uM
2-chloro-N-[(3S,4R)-1-(3,4-dimethoxybenzoyl)-3-phenylpiperidin-4-yl]benzamide	1392237: Inhibition of human SPT2 transfected in Freestyle293 cells using L-serine and palmitoyl-CoA as substrate preincubated for 60 mins followed by substrate addition measured after 15 mins by mass spectrometric analysis	ic50	0.0004	uM
N-[(7S)-4-(5,6-dimethoxypyridine-3-carbonyl)-1-propan-2-yl-6,7-dihydro-5H-pyrazolo[4,5-b]pyridin-7-yl]-2-(trifluoromethoxy)benzamide	1392237: Inhibition of human SPT2 transfected in Freestyle293 cells using L-serine and palmitoyl-CoA as substrate preincubated for 60 mins followed by substrate addition measured after 15 mins by mass spectrometric analysis	ic50	0.0005	uM
N-[(3S,4R)-1-(8-chloroquinoxaline-6-carbonyl)-3-phenylpiperidin-4-yl]-1-methyl-3-(trifluoromethyl)pyrazole-5-carboxamide	2084120: Inhibition of SPTLC2 (unknown origin)	ic50	0.0005	uM
2-chloro-N-[(7S)-4-(3,4-dimethoxybenzoyl)-1-propan-2-yl-6,7-dihydro-5H-pyrazolo[4,5-b]pyridin-7-yl]benzamide	2084120: Inhibition of SPTLC2 (unknown origin)	ic50	0.0008	uM
N-[4-(5,6-dimethoxypyridine-3-carbonyl)-1-propan-2-yl-6,7-dihydro-5H-pyrazolo[4,5-b]pyridin-7-yl]-2-(trifluoromethoxy)benzamide	1392237: Inhibition of human SPT2 transfected in Freestyle293 cells using L-serine and palmitoyl-CoA as substrate preincubated for 60 mins followed by substrate addition measured after 15 mins by mass spectrometric analysis	ic50	0.0012	uM
2-chloro-N-[1-(3,4-dimethoxybenzoyl)-3-phenylpiperidin-4-yl]benzamide	1392237: Inhibition of human SPT2 transfected in Freestyle293 cells using L-serine and palmitoyl-CoA as substrate preincubated for 60 mins followed by substrate addition measured after 15 mins by mass spectrometric analysis	ic50	0.0012	uM
2-chloro-N-[(3R,4R)-1-(3,4-dimethoxybenzoyl)-3-phenylpiperidin-4-yl]benzamide	1392237: Inhibition of human SPT2 transfected in Freestyle293 cells using L-serine and palmitoyl-CoA as substrate preincubated for 60 mins followed by substrate addition measured after 15 mins by mass spectrometric analysis	ic50	0.0050	uM
2-chloro-N-[7-chloro-1-(3,4-dimethoxybenzoyl)-3,4-dihydro-2H-quinolin-4-yl]benzamide	1392237: Inhibition of human SPT2 transfected in Freestyle293 cells using L-serine and palmitoyl-CoA as substrate preincubated for 60 mins followed by substrate addition measured after 15 mins by mass spectrometric analysis	ic50	0.0051	uM
2-chloro-N-[4-(3,4-dimethoxybenzoyl)-1-methyl-6,7-dihydro-5H-pyrazolo[4,5-b]pyridin-7-yl]benzamide	1392237: Inhibition of human SPT2 transfected in Freestyle293 cells using L-serine and palmitoyl-CoA as substrate preincubated for 60 mins followed by substrate addition measured after 15 mins by mass spectrometric analysis	ic50	0.0077	uM
(2S)-2-[(E,2S)-1-[[(1S)-1-carboxy-2-[4-(3-methylbut-2-enoxy)phenyl]ethyl]amino]-1,11-dioxooctadec-3-en-2-yl]-2-hydroxybutanedioic acid	512655: Inhibition of human recombinant SPT2 activity in LCB2 transfected human HEK293 cells	ic50	0.0100	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149477: Binding affinity to human SPTLC2 incubated for 45 mins by Kinobead based pull down assay	kd	0.0246	uM
2-chloro-N-[(3R,4S)-1-(3,4-dimethoxybenzoyl)-3-phenylpiperidin-4-yl]benzamide	1392237: Inhibition of human SPT2 transfected in Freestyle293 cells using L-serine and palmitoyl-CoA as substrate preincubated for 60 mins followed by substrate addition measured after 15 mins by mass spectrometric analysis	ic50	0.2200	uM
[7-chloro-4-(4-chloroanilino)-3,4-dihydro-2H-quinolin-1-yl]-(3,4-dimethoxyphenyl)methanone	1392237: Inhibition of human SPT2 transfected in Freestyle293 cells using L-serine and palmitoyl-CoA as substrate preincubated for 60 mins followed by substrate addition measured after 15 mins by mass spectrometric analysis	ic50	0.6500	uM
N-[(7R)-4-(5,6-dimethoxypyridine-3-carbonyl)-1-propan-2-yl-6,7-dihydro-5H-pyrazolo[4,5-b]pyridin-7-yl]-2-(trifluoromethoxy)benzamide	1392237: Inhibition of human SPT2 transfected in Freestyle293 cells using L-serine and palmitoyl-CoA as substrate preincubated for 60 mins followed by substrate addition measured after 15 mins by mass spectrometric analysis	ic50	2.8000	uM
2-chloro-N-[(3S,4S)-1-(3,4-dimethoxybenzoyl)-3-phenylpiperidin-4-yl]benzamide	1392237: Inhibition of human SPT2 transfected in Freestyle293 cells using L-serine and palmitoyl-CoA as substrate preincubated for 60 mins followed by substrate addition measured after 15 mins by mass spectrometric analysis	ic50	3.0000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression	3
entinostat	increases expression, affects cotreatment	2
Nickel	increases expression	2
Tetrachlorodibenzodioxin	affects binding, increases reaction, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
apocarotenal	affects expression	1
deoxynivalenol	decreases expression	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	increases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	decreases expression	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
nivalenol	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pentanal	decreases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
PCI 5002	affects cotreatment, increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Arsenic Trioxide	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, affects expression	1
Calcitriol	increases expression	1

ChEMBL screening assays

4 unique, capped per target: 4 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1250175	Binding	Inhibition of human recombinant SPT2 activity in LCB2 transfected human HEK293 cells	Host sphingolipid biosynthesis as a target for hepatitis C virus therapy. — Nat Chem Biol

Cellosaurus cell lines

6 cell lines: 6 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D1QQ	Abcam K-562 SPTLC2 KO	Cancer cell line	Female
CVCL_D2MB	Abcam Raji SPTLC2 KO	Cancer cell line	Male
CVCL_TQ30	HAP1 SPTLC2 (-) 1	Cancer cell line	Male
CVCL_WQ59	Abcam Jurkat SPTLC2 KO	Cancer cell line	Male
CVCL_XT84	HAP1 SPTLC2 (-) 2	Cancer cell line	Male
CVCL_XT85	HAP1 SPTLC2 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

89 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT06231459	PHASE4	COMPLETED	Expression of Pro- and Anti-inflammatory Cytokines During Anti-PCSK9 in Familial Hypercholesterolemia
NCT00000594	PHASE3	COMPLETED	NHLBI Type II Coronary Intervention Study
NCT00092833	PHASE3	TERMINATED	Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED)
NCT00134485	PHASE3	COMPLETED	Study To Evaluate The Safety And Efficacy Of Torcetrapib/Atorvastatin In Subjects With Familial Hypercholerolemia
NCT00134511	PHASE3	COMPLETED	Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Patients With Genetic High Cholesterol Disorder
NCT00136981	PHASE3	COMPLETED	Carotid B-Mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrpib/Atorvastatin to Atorvastatin Alone.
NCT00384293	PHASE3	TERMINATED	Carotid IMT (Intima Media Thickening) Study (0524A-041)(TERMINATED)
NCT01524289	PHASE3	COMPLETED	Study to Assess the Tolerability and Efficacy of Anacetrapib (MK-0859) Co-Administered With Statin in Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-020)
NCT04762758	PHASE3	UNKNOWN	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
NCT06113055	PHASE2	UNKNOWN	Hereditary Sensory Neuropathy Serine Trial
NCT00280995	PHASE2	COMPLETED	Dose-escalating Safety Study of ISIS 301012 in Homozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy
NCT00281008	PHASE2	COMPLETED	Study of ISIS 301012 (Mipomersen) in Heterozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy
NCT01375751	PHASE2	COMPLETED	Reduction of Low-Density Lipoprotein Cholesterol (LDL-C) With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder Study
NCT00271635	PHASE2	COMPLETED	Ascorbic Acid Treatment in CMT1A Trial (AATIC)
NCT01401257	PHASE2	COMPLETED	Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A
NCT02561702	PHASE2	COMPLETED	Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease
NCT02967679	PHASE2	COMPLETED	SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study
NCT03124459	PHASE2	TERMINATED	Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
NCT03254199	PHASE2	TERMINATED	A Study to Assess the Safety and Effectiveness of FLX-787 in Subjects With Charcot-Marie-Tooth Disease Experiencing Muscle Cramps.
NCT03943290	PHASE2	TERMINATED	Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX)
NCT05777226	PHASE2	UNKNOWN	Research of SORD-CMT Natural History and Epalrestat Treatment
NCT06482437	PHASE2	COMPLETED	Safety and Efficacy of NMD670 in Adult Patients With Type 1 and Type 2 Charcot-Marie-Tooth Disease
NCT00515307	PHASE1	COMPLETED	Bone Marrow Stem Cells as a Source of Allogenic Hepatocyte Transplantation in Homozygous Familial Hypercholesterolemia
NCT01583647	PHASE1	TERMINATED	A Study of Extended-release (ER) Niacin/Laropiprant in Adolescents With Heterozygous Familial Hypercholesterolemia (MK-0524A-158)
NCT01733407	PHASE1/PHASE2	COMPLETED	L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1
NCT00005168	Not specified	COMPLETED	Hyperapo B and Coronary Heart Disease
NCT01753232	Not specified	COMPLETED	Safety and Efficacy of the DALI LDL-adsorber and MONET Lipoprotein Filter
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