GALC

Summary

GALC (galactosylceramidase, HGNC:4115) is a protein-coding gene on chromosome 14q31.3, encoding Galactocerebrosidase (P54803). Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine.

This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Source: NCBI Gene 2581 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Krabbe disease (Definitive, ClinGen)
• GWAS associations: 25
• Clinical variants (ClinVar): 1,639 total — 192 pathogenic, 147 likely-pathogenic
• Phenotypes (HPO): 133
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_000153

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4115
Approved symbol	GALC
Name	galactosylceramidase
Location	14q31.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000054983
Ensembl biotype	protein_coding
OMIM	606890
Entrez	2581

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 8 protein_coding, 5 nonsense_mediated_decay, 3 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000261304, ENST00000393568, ENST00000393569, ENST00000474294, ENST00000477716, ENST00000544807, ENST00000554372, ENST00000554916, ENST00000555000, ENST00000555179, ENST00000555956, ENST00000556261, ENST00000556879, ENST00000557316, ENST00000557520, ENST00000622264, ENST00000872271, ENST00000921945, ENST00000950382

RefSeq mRNA: 10 — MANE Select: NM_000153 NM_000153, NM_001201401, NM_001201402, NM_001424071, NM_001424072, NM_001424073, NM_001424074, NM_001424075, NM_001424076, NM_001424077

CCDS: CCDS55936, CCDS55937, CCDS9878

Canonical transcript exons

ENST00000261304 — 17 exons

Exon	Start	End
ENSE00001220438	87992970	87993182
ENSE00002500561	87933014	87934878
ENSE00003482935	87963384	87963511
ENSE00003505928	87947728	87947878
ENSE00003534204	87968335	87968490
ENSE00003543377	87939905	87939981
ENSE00003551391	87982205	87982243
ENSE00003573061	87986489	87986602
ENSE00003574013	87965505	87965629
ENSE00003581551	87941395	87941558
ENSE00003610928	87945553	87945733
ENSE00003613235	87988144	87988207
ENSE00003631703	87976358	87976488
ENSE00003649167	87949845	87949931
ENSE00003674158	87988455	87988523
ENSE00003675436	87984394	87984533
ENSE00003678821	87950659	87950748

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 98.79.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.2667 / max 711.2634, expressed in 1755 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144392	20.2898	1743
144390	9.4593	1607
144391	2.4544	1131
144388	1.0666	574
144389	0.5868	234
144387	0.4098	163

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	98.79	gold quality
bronchial epithelial cell	CL:0002328	96.74	gold quality
jejunal mucosa	UBERON:0000399	96.45	gold quality
renal glomerulus	UBERON:0000074	96.09	gold quality
metanephric glomerulus	UBERON:0004736	96.03	gold quality
germinal epithelium of ovary	UBERON:0001304	94.81	gold quality
epithelium of bronchus	UBERON:0002031	94.49	gold quality
cranial nerve II	UBERON:0000941	94.42	gold quality
pigmented layer of retina	UBERON:0001782	94.31	gold quality
duodenum	UBERON:0002114	94.21	gold quality
bronchus	UBERON:0002185	94.15	gold quality
trigeminal ganglion	UBERON:0001675	93.91	gold quality
inferior vagus X ganglion	UBERON:0005363	93.88	gold quality
corpus callosum	UBERON:0002336	93.75	gold quality
visceral pleura	UBERON:0002401	93.31	gold quality
lateral globus pallidus	UBERON:0002476	92.88	gold quality
subthalamic nucleus	UBERON:0001906	92.87	gold quality
monocyte	CL:0000576	92.28	gold quality
mononuclear cell	CL:0000842	92.18	gold quality
leukocyte	CL:0000738	91.92	gold quality
superior vestibular nucleus	UBERON:0007227	91.81	gold quality
metanephros	UBERON:0000081	91.75	gold quality
pleura	UBERON:0000977	91.65	gold quality
dorsal root ganglion	UBERON:0000044	91.51	gold quality
spinal cord	UBERON:0002240	91.36	gold quality
endothelial cell	CL:0000115	91.35	gold quality
middle frontal gyrus	UBERON:0002702	91.29	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.21	gold quality
substantia nigra pars reticulata	UBERON:0001966	91.18	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.13	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	11.60
E-ANND-3	yes	11.56
E-MTAB-9067	yes	11.44
E-CURD-112	yes	10.51
E-MTAB-9801	yes	6.47

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

97 targeting GALC, 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-3613-3P	100.00	76.36	7965
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-607	99.97	73.62	5593
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-651-3P	99.94	73.48	5177

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 39)

• A GALC genotype with one deleted and one polymorphic GALC activity-reducing allele can lead to enzymatic and clinical signs of LOGLD in the absence of marked GALC-PS deficiency (PMID:11814461)
• galactocerebrosidase and galactosylcerebroside have roles in cancer cells (PMID:15657896)
• confirm several mutations common to Japanese patients, the two most frequent being 12Del3Ins and I66M+I289V, which account for 37% of all mutant alleles (PMID:16607461)
• Psychosine reduces apoptotic response and causes atypical cytokine production in peripheral immune cells of Krabbe patients. (PMID:17458901)
• molecular analysis in 5 families with late onset Krabbe disease from Catania, Sicily shows that this condition is mainly due to a p.Gly41Ser substitution in the GALC gene that abolishes catalytic activity of the galactocerebrosidase enzyme (PMID:17579360)
• This study analyzes the effects of Asp528Asn, Iso234Thr, and Leu629Arg mutations on GALC intracellular processing, secretion, uptake, and subcellular localization in mammalian cell lines. (PMID:20410102)
• This study, reporting one of the largest genotype-phenotype analyses of the GALC gene so far performed in a European Krabbe disease cohort, revealed that the Italian GALC mutational profile differs significantly from other populations of European origin. (PMID:20886637)
• The p.Gly41Ser mutation was associated with longer survival with Krabbe disease. A wide spectrum of late onset Krabbe leukodystrophy is found despite similar genotype. (PMID:21070211)
• suggest that heterozygous deletions that reduce GALC activity are a novel mechanism increasing risk of POAG (PMID:22073273)
• Higher galactocerebrosidase activity is predictive of later symptom onset times but does not predict survival after symptom onset when controlling for the logarithm of age at onset. (PMID:23044012)
• GALC mutation is associated with Krabbe disease. (PMID:23276707)
• study identified 4 novel mutations of the GALC gene in 2 unrelated Chinese families with Krabbe disease: one insertion mutation, c.1836_1837insT, one nonsense mutation, c.599C>A (p.S200X),one deletion mutation, c.1911 1_1911 5delGTAAG and one missense mutation, c.2041G>A (PMID:23462331)
• Itis an exoglycosidase that catalyzes the hydrolysis of terminal beta-linked galactose residues and its deficiencies or mutation cause llysosomal diseases. (review) (PMID:23649392)
• Structural snapshots illustrate the catalytic cycle of beta-galactocerebrosidase, the defective enzyme in Krabbe disease. (PMID:24297913)
• Genetic variants near IREB2 and GALC likely contribute to genetic susceptibility to PAE associated with COPD. (PMID:25101718)
• We demonstrated that a heterozygous GALC deletion does not play a significant role in the pathogenesis of normal tension glaucoma in a representative clinic-based population of South Koreans, unlike whites. (PMID:25943734)
• GALC was downregulated by promoter hypermethylation and contributed to the pathogenesis of EBV-associated nasopharyngeal carcinoma (PMID:26178533)
• promoter hypermethylation contributed to down-regulation of GALC Gene, implicating epigenetic inactivation of GALC may play a role in tumorigenesis of cancer. (PMID:26617822)
• Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia (PMID:26915362)
• Enzyme activities (acid alpha-glucosidase (GAA), galactocerebrosidase (GALC), glucocerebrosidase (GBA), alpha-galactosidase A (GLA), alpha-iduronidase (IDUA) and sphingomyeline phosphodiesterase-1 (SMPD-1)) were measured on ~43,000 de-identified dried blood spot (DBS) punches, and screen positive samples were submitted for DNA sequencing to obtain genotype confirmation of disease risk (PMID:27238910)
• Case Report: compound GALC heterozygosity in a boy with infantile Krabbe disease with severe clinical course. (PMID:27442402)
• This review illustrated The Krabbe’s disease is caused by mutation in the enzyme Beta-galactocerebrosidase. (PMID:27638582)
• This is the largest expression study of GALC variants/mutations found in Newborn screening and confirmed KD cases. (PMID:27638593)
• we showed for the first time the specific alteration of beta-Galctosidase (Gal), beta-Galactosylcerebrosidase (GALC) in MCI patients. It is notable that in above peripheral biological samples the lysosomes are more sensitive to AD cellular metabolic alteration when compared to levels of Abeta-peptide or Tau proteins, similar in both AD groups analyzed (PMID:28825628)
• rs17203398 associated with mucous membrane pemphigoid (PMID:29136295)
• The authors present the structure of a glycosphingolipid-processing complex, revealing how SapA and GALC form a heterotetramer with an open channel connecting the enzyme active site to the SapA hydrophobic cavity. (PMID:29323104)
• Results show for the first time that during normal aging, psychosine metabolism is progressively dysfunctional, leading to its accumulation in the aging brain, especially in regions vulnerable to degeneration in Parkinson’s disease (PD). These results underline the possibility that defects in the metabolism mediated by changes in GALC activity modify the risk of developing alpha-synuclein pathology in vulnerable patients. (PMID:29481565)
• EMT phenotypes and GALC expression of CTCs are correlated with cancer metastasis and therapeutic outcomes, suggesting them to be potential markers for the prognosis of NSCLC. (PMID:29758927)
• The present study describes two GALC mutations shared by two Chinese siblings with juvenile-onset of Krabbe disease (PMID:31185936)
• Self-association of beta-galactocerebrosidase (human GALC)decreases as the concentration of sodium chloride increases from 50 to 500 mM. This indicates that ionic interactions are involved in the association. These results indicate that GALC has the highest tendency for oligomerization at physiological ionic strength and pH (lysosomal lumen). (PMID:31869371)
• Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe’s disease. (PMID:32186243)
• This study generated information on the recessive allele frequency dynamics of GALC gene across 15 global populations. (PMID:32304783)
• beta-Galactosylceramidase Promotes Melanoma Growth via Modulation of Ceramide Metabolism. (PMID:32998995)
• Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease. (PMID:33097716)
• Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature. (PMID:33190188)
• beta-Galactosidase is a target enzyme for detecting peritoneal metastasis of gastric cancer. (PMID:34021168)
• Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease. (PMID:36113749)
• GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease. (PMID:36370000)
• A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family. (PMID:36920572)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	galcb	ENSDARG00000016474
danio_rerio	galca	ENSDARG00000037064
mus_musculus	Galc	ENSMUSG00000021003
rattus_norvegicus	Galc	ENSRNOG00000003759
caenorhabditis_elegans		WBGENE00016207

Protein

Protein identifiers

Galactocerebrosidase — P54803 (reviewed: P54803)

Alternative names: Galactocerebroside beta-galactosidase, Galactosylceramidase, Galactosylceramide beta-galactosidase

All UniProt accessions (8): A0A087WX10, A0A0A0MQV0, P54803, G3V255, G3V4M2, G3V5E8, H0YJG8, H0YJV6

UniProt curated annotations — full annotation on UniProt →

Function. Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon.

Subcellular location. Lysosome.

Tissue specificity. Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver.

Disease relevance. Krabbe disease (KRB) [MIM:245200] An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death. The disease is caused by variants affecting the gene represented in this entry.

Polymorphism. Polymorphic amino-acid changes are responsible for the wide range of catalytic activities found in the general population.

Similarity. Belongs to the glycosyl hydrolase 59 family.

Isoforms (4)

UniProt ID	Names	Canonical?
P54803-1	1	yes
P54803-3	3
P54803-4	4
P54803-5	5

RefSeq proteins (10): NP_000144, NP_001188330, NP_001188331, NP_001411000, NP_001411001, NP_001411002, NP_001411003, NP_001411004, NP_001411005, NP_001411006 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001286	Glyco_hydro_59	Family
IPR013785	Aldolase_TIM	Homologous_superfamily
IPR017853	GH_hydrolase_sf	Homologous_superfamily
IPR035394	Glyco_hydro_59_dom	Domain
IPR049161	GH59_cat	Domain
IPR049162	GH59_C	Domain

Pfam: PF02057, PF17387, PF21708

Enzyme classification (BRENDA):

• EC 3.2.1.46 — galactosylceramidase (BRENDA: 5 organisms, 18 substrates, 19 inhibitors, 14 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
6-HEXADECANOYLAMINO-4-METHYLBELLIFERYL-BETA-D-GA	0.017–0.15	5
GALACTOSYLCERAMIDE	0.02–0.2	4
GALACTOCEREBROSIDE	0.005–0.025	2
GALACTOSYLSPHINGOSINE	0.11–0.67	2
4-METHYLUMBELLIFERYL-BETA-D-GALACTOPYRANOSIDE	0.47	1

Catalyzed reactions (Rhea), 3 shown:

• a beta-D-galactosyl-(1<->1’)-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-galactose (RHEA:14297)
• a D-galactosylceramide + H2O = an N-acyl-sphingoid base + D-galactose (RHEA:43412)
• beta-D-galactosyl-(1<->1)-sphing-4-enine + H2O = sphing-4-enine + D-galactose (RHEA:43908)

UniProt features (74 total): sequence variant 51, glycosylation site 6, splice variant 4, binding site 4, sequence conflict 4, active site 2, signal peptide 1, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P54803-F1	94.56	0.92

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 (2): 198 (proton donor/acceptor); 274 (nucleophile)

Ligand- & substrate-binding residues (4): 109; 151; 197; 396

Disulfide bonds (1): 287–394

Glycosylation sites (6): 403, 556, 559, 602, 143, 379

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9840310	Glycosphingolipid catabolism

MSigDB gene sets: 490 (showing top): VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_CERAMIDE_CATABOLIC_PROCESS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, KEGG_LYSOSOME, GOBP_MEMBRANE_LIPID_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, SHEPARD_BMYB_MORPHOLINO_DN, MAHAJAN_RESPONSE_TO_IL1A_DN, GOBP_GLYCOLIPID_CATABOLIC_PROCESS, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, KOYAMA_SEMA3B_TARGETS_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4

GO Biological Process (6): galactosylceramide catabolic process (GO:0006683), myelination (GO:0042552), glycosphingolipid catabolic process (GO:0046479), lipid metabolic process (GO:0006629), sphingolipid metabolic process (GO:0006665), lipid catabolic process (GO:0016042)

GO Molecular Function (3): galactosylceramidase activity (GO:0004336), hydrolase activity (GO:0016787), hydrolase activity, acting on glycosyl bonds (GO:0016798)

GO Cellular Component (3): lysosome (GO:0005764), membrane (GO:0016020), lysosomal lumen (GO:0043202)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Glycosphingolipid metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
lipid metabolic process	2
galactosylceramide metabolic process	1
galactolipid catabolic process	1
glycosylceramide catabolic process	1
axon ensheathment	1
glycosphingolipid metabolic process	1
glycolipid catabolic process	1
sphingolipid catabolic process	1
primary metabolic process	1
catabolic process	1
glycosylceramidase activity	1
catalytic activity	1
hydrolase activity	1
lytic vacuole	1
cellular anatomical structure	1
lysosome	1
vacuolar lumen	1

Protein interactions and networks

STRING

1066 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GALC	ARSA	P15289	859
GALC	PSAP	P07292	851
GALC	ASAH1	Q13510	835
GALC	GLB1	P16278	821
GALC	MBP	P02686	814
GALC	GBA1	P04062	796
GALC	GLA	P06280	771
GALC	CNP	P09543	758
GALC	SMPD1	P17405	729
GALC	GFAP	P14136	702
GALC	UGT8	Q16880	694
GALC	OLIG2	Q13516	650
GALC	NES	P48681	621
GALC	OLIG1	Q8TAK6	615
GALC	PDGFRA	P16234	613

IntAct

35 interactions, top by confidence:

A	B	Type	Score
ESS2	ACADS	psi-mi:“MI:0914”(association)	0.640
CLEC11A	VWA8	psi-mi:“MI:0914”(association)	0.530
TMEM51	WWP2	psi-mi:“MI:0914”(association)	0.530
IER2	KPNA3	psi-mi:“MI:0914”(association)	0.530
EEF2KMT	BCAT2	psi-mi:“MI:0914”(association)	0.530
CST7	CTSL	psi-mi:“MI:0914”(association)	0.530
ESS2	HSPA8	psi-mi:“MI:0914”(association)	0.530
GTF2H2C	ERCC3	psi-mi:“MI:0914”(association)	0.530
NEDD1	CEP290	psi-mi:“MI:0914”(association)	0.480
GALC	H1-2	psi-mi:“MI:0915”(physical association)	0.400
NCOA5	GALC	psi-mi:“MI:0915”(physical association)	0.400
ECI2	ARID1A	psi-mi:“MI:0914”(association)	0.350
ECH1	MCRIP1	psi-mi:“MI:0914”(association)	0.350
ECI2	PDLIM1	psi-mi:“MI:0914”(association)	0.350
ECH1	A2ML1	psi-mi:“MI:0914”(association)	0.350
APBB1	SSPOP	psi-mi:“MI:0914”(association)	0.350
	HLA-C	psi-mi:“MI:0914”(association)	0.350
OS9	GXYLT2	psi-mi:“MI:0914”(association)	0.350
PNMA2	TARS3	psi-mi:“MI:0914”(association)	0.350
IGF2R	MANBA	psi-mi:“MI:0914”(association)	0.350
CNKSR1	TRIM24	psi-mi:“MI:0914”(association)	0.350
TRMT11	NARS1	psi-mi:“MI:0914”(association)	0.350
IKZF1	MTA2	psi-mi:“MI:0914”(association)	0.350
DNAJC17	SYF2	psi-mi:“MI:0914”(association)	0.350
GALC	HSPA5	psi-mi:“MI:0914”(association)	0.350
CABP2	PPM1A	psi-mi:“MI:0914”(association)	0.350
OTUD6B	GALC	psi-mi:“MI:0914”(association)	0.350
ESS2	CDC40	psi-mi:“MI:0914”(association)	0.350

BioGRID (53): GALC (Affinity Capture-MS), GALC (Affinity Capture-MS), GALC (Affinity Capture-MS), GALC (Affinity Capture-MS), GALC (Affinity Capture-MS), GALC (Affinity Capture-MS), GALC (Affinity Capture-MS), GALC (Affinity Capture-MS), GALC (Affinity Capture-MS), GALC (Affinity Capture-MS), GALC (Affinity Capture-MS), GALC (Affinity Capture-MS), GALC (Affinity Capture-MS), GALC (Affinity Capture-MS), GALC (Affinity Capture-MS)

ESM2 similar proteins: A1D0A3, A1D1Z9, A1D8Y6, A1DJ58, A2QEQ6, B0XMP7, B0XXE7, B0Y224, B5X3C1, B8N6V7, B8QGZ3, D4B5H9, H2DF88, O02791, P29000, P29853, P45582, P48980, P48981, P54803, P54804, P54818, P80065, P93761, Q0C8J3, Q0CUG5, Q0VA39, Q10NX8, Q2UCU3, Q39041, Q43348, Q43857, Q498K0, Q4R1C4, Q4WE86, Q4WG05, Q4WS33, Q5AVP1, Q5AZ53, Q5B7X2

Diamond homologs: B5X3C1, O02791, P54803, P54804, P54818, Q0VA39, Q498K0, Q5SNX7, Q95QT2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

1639 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	192
Likely pathogenic	147
Uncertain significance	425
Likely benign	561
Benign	114

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1066093	NM_000153.4(GALC):c.1987del (p.Trp663fs)	Pathogenic
1070140	NC_000014.8:g.(?_88391504)_88423173del	Pathogenic
1070141	NC_000014.8:g.(?_88391504)_88423174del	Pathogenic
1070539	NM_000153.4(GALC):c.181_182insAG (p.Val61fs)	Pathogenic
1070766	NM_000153.4(GALC):c.302_308dup (p.Gly104fs)	Pathogenic
1070767	NM_000153.4(GALC):c.176del (p.Gly59fs)	Pathogenic
1071897	NM_000153.4(GALC):c.1884del (p.Lys628fs)	Pathogenic
1071955	NM_000153.4(GALC):c.1762_1763del (p.Leu588fs)	Pathogenic
1072645	NM_000153.4(GALC):c.37C>T (p.Arg13Ter)	Pathogenic
1073890	NM_000153.4(GALC):c.498del (p.Asn167fs)	Pathogenic
1073951	NC_000014.8:g.(?_88391503)_88423172del	Pathogenic
1074198	NM_000153.4(GALC):c.1411_1432del (p.Thr471fs)	Pathogenic
1074616	NM_000153.4(GALC):c.332del (p.Gly111fs)	Pathogenic
1298354	NM_000153.4(GALC):c.1964del (p.Pro655fs)	Pathogenic
1299228	NM_000153.4(GALC):c.1821dup (p.Thr608fs)	Pathogenic
1299585	NM_000153.4(GALC):c.396G>A (p.Trp132Ter)	Pathogenic
1320177	NM_000153.4(GALC):c.688_694del (p.Trp230fs)	Pathogenic
1322975	NM_000153.4(GALC):c.1531del (p.Thr511fs)	Pathogenic
1322976	NM_000153.4(GALC):c.1736_1739del (p.Ala579fs)	Pathogenic
1331457	NM_000153.4(GALC):c.683_694delinsCTC (p.Asn228_Ser232delinsThrPro)	Pathogenic
1364954	NM_000153.4(GALC):c.1815dup (p.Arg606fs)	Pathogenic
1378825	NM_000153.4(GALC):c.1648dup (p.Ser550fs)	Pathogenic
1385679	NM_000153.4(GALC):c.782_783dup (p.Asp262fs)	Pathogenic
1402125	NM_000153.4(GALC):c.505C>T (p.Gln169Ter)	Pathogenic
1413114	NM_000153.4(GALC):c.1291G>T (p.Gly431Ter)	Pathogenic
1414629	NM_000153.4(GALC):c.27del (p.Trp10fs)	Pathogenic
1424701	NM_000153.4(GALC):c.29G>A (p.Trp10Ter)	Pathogenic
1425129	NM_000153.4(GALC):c.1270C>T (p.Gln424Ter)	Pathogenic
1432015	NM_000153.4(GALC):c.1367_1368del (p.Leu456fs)	Pathogenic
1451476	NM_000153.4(GALC):c.283_284del (p.Leu95fs)	Pathogenic

SpliceAI

2455 predictions. Top by Δscore:

Variant	Effect	Δscore
14:87934745:T:TA	donor_gain	1.0000
14:87945668:T:C	acceptor_gain	1.0000
14:87945668:T:TC	acceptor_gain	1.0000
14:87947723:CTCA:C	donor_loss	1.0000
14:87947726:A:AC	donor_gain	1.0000
14:87947726:AC:A	donor_gain	1.0000
14:87947727:C:CA	donor_gain	1.0000
14:87947727:CC:C	donor_gain	1.0000
14:87947727:CCA:C	donor_gain	1.0000
14:87947727:CCAA:C	donor_gain	1.0000
14:87947874:AGGAG:A	acceptor_gain	1.0000
14:87947875:GGAG:G	acceptor_gain	1.0000
14:87947876:GAG:G	acceptor_gain	1.0000
14:87947876:GAGCT:G	acceptor_gain	1.0000
14:87947877:AG:A	acceptor_gain	1.0000
14:87947877:AGC:A	acceptor_gain	1.0000
14:87947878:GC:G	acceptor_gain	1.0000
14:87947879:C:CA	acceptor_loss	1.0000
14:87947879:C:CC	acceptor_gain	1.0000
14:87947879:CT:C	acceptor_gain	1.0000
14:87949928:CACT:C	acceptor_gain	1.0000
14:87949930:CTCTG:C	acceptor_loss	1.0000
14:87949931:TC:T	acceptor_loss	1.0000
14:87949932:C:CC	acceptor_gain	1.0000
14:87949933:T:A	acceptor_loss	1.0000
14:87950657:A:AC	donor_gain	1.0000
14:87950658:C:CC	donor_gain	1.0000
14:87950747:CT:C	acceptor_gain	1.0000
14:87963508:TGAG:T	acceptor_gain	1.0000
14:87963512:C:CC	acceptor_gain	1.0000

AlphaMissense

4492 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:87965619:A:G	W307R	0.997
14:87965619:A:T	W307R	0.997
14:87945573:A:C	S550R	0.996
14:87945573:A:T	S550R	0.996
14:87945575:T:G	S550R	0.996
14:87945631:C:G	R531P	0.996
14:87992979:G:C	S62R	0.996
14:87992979:G:T	S62R	0.996
14:87992981:T:G	S62R	0.996
14:87965602:A:C	S312R	0.995
14:87965602:A:T	S312R	0.995
14:87965604:T:G	S312R	0.995
14:87984444:A:G	W178R	0.995
14:87984444:A:T	W178R	0.995
14:87968374:C:G	R290P	0.994
14:87934797:C:G	A665P	0.993
14:87982233:T:A	E198V	0.993
14:87982235:A:C	N197K	0.993
14:87982235:A:T	N197K	0.993
14:87984525:A:G	W151R	0.993
14:87984525:A:T	W151R	0.993
14:87941494:C:G	A579P	0.992
14:87945634:A:G	L530P	0.991
14:87963427:A:G	L373P	0.991
14:87968432:A:G	W271R	0.991
14:87968432:A:T	W271R	0.991
14:87984510:A:G	W156R	0.991
14:87984510:A:T	W156R	0.991
14:87986540:A:G	W131R	0.991
14:87986540:A:T	W131R	0.991

dbSNP variants (sampled 300 via entrez): RS1000118702 (14:87972797 G>A), RS1000206216 (14:87954044 C>G,T), RS1000236059 (14:87970221 T>A,C), RS1000267264 (14:87969969 G>A), RS1000294367 (14:87949557 A>G), RS1000380667 (14:87960269 G>A), RS1000404443 (14:87957062 C>T), RS1000410233 (14:87986401 G>A), RS1000577837 (14:87982885 C>T), RS1000597596 (14:87977152 A>G), RS1000671098 (14:87948860 A>C), RS1000687893 (14:87988863 A>G), RS1000734560 (14:87955699 T>C), RS1000753136 (14:87960415 T>C), RS1000755207 (14:87942735 G>A)

Disease associations

OMIM: gene MIM:606890 | disease phenotypes: MIM:245200, MIM:108600, MIM:312080, MIM:301500

GenCC curated gene-disease

Disease	Classification	Inheritance
Krabbe disease	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Krabbe disease	Definitive	AR

Mondo (12): Krabbe disease (MONDO:0009499), spastic ataxia (MONDO:0017845), congenital nervous system disorder (MONDO:0002320), epilepsy syndrome (MONDO:0015650), intellectual disability (MONDO:0001071), movement disorder (MONDO:0005395), amblyopia (MONDO:0001020), strabismus (MONDO:0003432), pathologic nystagmus (MONDO:0004843), fetal growth restriction (MONDO:0005030), leukodystrophy (MONDO:0019046), Fabry disease (MONDO:0010526)

Orphanet (6): Krabbe disease (Orphanet:487), Spastic ataxia (Orphanet:316226), Epilepsy syndrome (Orphanet:166463), Leukodystrophy (Orphanet:68356), Fabry disease (Orphanet:324), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

133 total (30 of 133 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000020	Urinary incontinence
HP:0000238	Hydrocephalus
HP:0000365	Hearing impairment
HP:0000467	Neck muscle weakness
HP:0000505	Visual impairment
HP:0000565	Esotropia
HP:0000572	Visual loss
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000649	Abnormality of visual evoked potentials
HP:0000708	Atypical behavior
HP:0000712	Emotional lability
HP:0000726	Dementia
HP:0000737	Irritability
HP:0000762	Decreased nerve conduction velocity
HP:0001053	Hypopigmented skin patches
HP:0001188	Hand clenching
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001264	Spastic diplegia
HP:0001265	Hyporeflexia
HP:0001268	Mental deterioration
HP:0001270	Motor delay

GWAS associations

25 associations (top):

Study	Trait	p-value
GCST000879_38	Crohn’s disease	4.000000e-18
GCST001648_1	Breast cancer	4.000000e-06
GCST001725_48	Inflammatory bowel disease	2.000000e-14
GCST001995_7	Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel)	2.000000e-06
GCST002797_2	Pulmonary artery enlargement in chronic obstructive pulmonary disease	4.000000e-08
GCST002929_17	Chromium levels	2.000000e-06
GCST003181_6	Staphylococcus aureus nasal carriage (intermittent)	9.000000e-07
GCST003487_14	Response to fenofibrate (total cholesterol levels)	3.000000e-06
GCST004131_90	Inflammatory bowel disease	3.000000e-11
GCST004132_113	Crohn’s disease	5.000000e-12
GCST004735_28	Epstein-Barr virus copy number in lymphoblastoid cell lines	1.000000e-06
GCST004902_53	Parkinson’s disease	9.000000e-11
GCST005531_60	Multiple sclerosis	2.000000e-20
GCST005752_63	Systemic lupus erythematosus	5.000000e-10
GCST005944_3	Viral capsid antigen IgG seropositivity	7.000000e-10
GCST009325_18	Parkinson’s disease or first degree relation to individual with Parkinson’s disease	6.000000e-11
GCST009391_1491	Metabolite levels	4.000000e-07
GCST009391_1895	Metabolite levels	3.000000e-06
GCST009391_1954	Metabolite levels	8.000000e-06
GCST009391_224	Metabolite levels	3.000000e-06
GCST009597_29	Multiple sclerosis	3.000000e-07
GCST010988_542	Adult body size	6.000000e-09
GCST012006_6	Intralaminar thalamic nuclei volume	1.000000e-09
GCST90002379_65	Basophil count	6.000000e-15
GCST90002380_28	Basophil percentage of white cells	8.000000e-17

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0006347	pulmonary artery enlargement
EFO:0007758	intermittent Staphylococcus aureus carrier status
EFO:0007806	total cholesterol change measurement
EFO:0009272	Epstein Barr viral capsid antigen seropositivity
EFO:0010416	triacylglycerol 52:4 measurement
EFO:0010414	triacylglycerol 52:2 measurement
EFO:0010423	triacylglycerol 54:5 measurement
EFO:0010491	glycocholate measurement
EFO:0006935	thalamus volume
EFO:0005090	basophil count
EFO:0007992	basophil percentage of leukocytes

MeSH disease descriptors (9)

Descriptor	Name	Tree numbers
D000550	Amblyopia	C10.228.140.055; C10.597.751.941.073; C11.966.073; C23.888.592.763.941.073
D000795	Fabry Disease	C10.228.140.163.100.435.825.200; C10.228.140.300.275.374; C14.907.253.329.374; C16.320.322.124; C16.320.565.189.435.825.200; C16.320.565.398.641.803.300; C16.320.565.595.554.825.200; C18.452.132.100.435.825.200; C18.452.584.563.641.803.300; C18.452.648.189.435.825.200; C18.452.648.398.641.803.300; C18.452.648.595.554.825.200
D005317	Fetal Growth Retardation	C12.050.703.277.370; C16.300.390; C23.550.393.450
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D007965	Leukodystrophy, Globoid Cell	C10.228.140.163.100.362.500; C10.228.140.163.100.435.825.590; C10.228.140.695.625.500; C10.314.400.500; C16.320.565.189.362.500; C16.320.565.189.435.825.590; C16.320.565.398.641.803.585; C16.320.565.595.554.825.590; C18.452.132.100.362.500; C18.452.132.100.435.825.590; C18.452.584.563.641.803.585; C18.452.648.189.362.500; C18.452.648.189.435.825.590; C18.452.648.398.641.803.585; C18.452.648.595.554.825.590
D009069	Movement Disorders	C10.228.662
D009759	Nystagmus, Pathologic	C10.292.562.675; C11.590.400
D013285	Strabismus	C10.292.562.887; C11.590.810
C564815	Spastic Ataxia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3713095 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.50	Kd	3179	nM	CHEMBL3752910
5.50	ED50	3179	nM	CHEMBL3752910
5.06	Kd	8725	nM	CHEMBL5653589
5.06	ED50	8725	nM	CHEMBL5653589

PubChem BioAssay actives

2 with measured affinity, of 7 total; 2 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
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148411: Binding affinity to human GALC incubated for 45 mins by Kinobead based pull down assay	kd	3.1788	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148411: Binding affinity to human GALC incubated for 45 mins by Kinobead based pull down assay	kd	8.7254	uM

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	7
sodium arsenite	affects methylation, decreases expression	4
(+)-JQ1 compound	affects expression, decreases expression	3
entinostat	decreases expression, affects cotreatment	2
methylmercuric chloride	decreases expression	1
bisphenol A	increases methylation	1
arsenite	affects binding, increases reaction	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	decreases expression	1
nickel sulfate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
bisphenol S	decreases methylation	1
Arbutin	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cannabidiol	decreases expression	1
Cyclophosphamide	affects response to substance	1
Estradiol	decreases expression	1
Fenfluramine	increases expression	1
Rotenone	increases expression	1
Tretinoin	increases expression	1
Acrylamide	decreases expression	1

ChEMBL screening assays

3 unique, capped per target: 2 binding, 1 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3562110	Functional	PubChem BioAssay. A Novel Cell-Based Assay to Identify Small Molecules for B -Galactocerebrosidase. (Class of assay: confirmatory)	PubChem BioAssay data set
CHEMBL4258350	Binding	Inhibition of recombinant human GALC at pH 5.2 pre-incubated for 10 mins followed by 4-methylumbelliferyl-beta-D-galactopyranoside substrate addition and measured after 20 mins by fluorescence assay	Orthoester functionalized N-guanidino derivatives of 1,5-dideoxy-1,5-imino-d-xylitol as pH-responsive inhibitors of β-glucocerebrosidase. — Medchemcomm

Cellosaurus cell lines

13 cell lines: 5 finite cell line, 4 induced pluripotent stem cell, 3 transformed cell line, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_2Z50	GM04372	Finite cell line	Male
CVCL_2Z51	GM04517	Finite cell line	Male
CVCL_2Z54	GM06805	Transformed cell line	Female
CVCL_2Z55	GM06806	Finite cell line	Female
CVCL_2Z56	GM06807	Transformed cell line	Male
CVCL_2Z57	GM06808	Finite cell line	Female
CVCL_2Z58	GM06809	Transformed cell line	Female
CVCL_2Z59	GM06810	Finite cell line	Male
CVCL_A9YV	PUMCi001-A	Induced pluripotent stem cell	Male
CVCL_A9YW	PUMCi002-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT04639310	PHASE3	TERMINATED	XEN496 (Ezogabine) in Children With KCNQ2 Developmental and Epileptic Encephalopathy
NCT04912856	PHASE3	TERMINATED	An Open-Label Extension of the Study XEN496 (Ezogabine) in Children With KCNQ2-DEE
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT00383448	PHASE2	COMPLETED	HSCT for High Risk Inherited Inborn Errors
NCT00668564	PHASE2	TERMINATED	Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism
NCT01043640	PHASE2	COMPLETED	Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
NCT02171104	PHASE2	ACTIVE_NOT_RECRUITING	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT00176904	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Inborn Errors of Metabolism
NCT01372228	PHASE1/PHASE2	TERMINATED	Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
NCT04693598	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Gene Transfer Clinical Trial for Krabbe Disease
NCT05739643	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCT
NCT00005900	Not specified	UNKNOWN	Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
NCT00787865	Not specified	ACTIVE_NOT_RECRUITING	Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease
NCT01425489	Not specified	WITHDRAWN	Biomarker for Krabbe Disease (BioKrabbe)
NCT01938014	Not specified	COMPLETED	Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT02993796	Not specified	RECRUITING	Krabbe Disease Global Patient Registry
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT03333200	Not specified	RECRUITING	Longitudinal Study of Neurodegenerative Disorders
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT06308718	Not specified	TERMINATED	Long-term Follow-up Study to Evaluate Safety and Efficacy of FBX-101 in Krabbe Patients
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT04297891	Not specified	UNKNOWN	Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias
NCT04048213	Not specified	UNKNOWN	The Becoming of Children With Doose Syndrome
NCT05097742	Not specified	COMPLETED	Cognitive Impairments in Children With Epilepsy
NCT06222840	Not specified	COMPLETED	Electro-clinical Features and Functional Connectivity Analysis in SYN1 Gene Mutation-related Epilepsy
NCT06223334	Not specified	UNKNOWN	Epileptic Syndromes in Infants and Early Childhood