GALC
Chr 14ARgalactosylceramidase
The protein encoded by this gene is a lysosomal enzyme that hydrolyzes galactose ester bonds in galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations cause Krabbe disease (globoid cell leukodystrophy) through autosomal recessive inheritance. The pathogenic mechanism involves deficiency of this galactocerebrosidase enzyme leading to accumulation of toxic galactolipid substrates in the nervous system.
Definitive — sufficient evidence for diagnostic panels
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GALC · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
The Myelin Disorders Biorepository Project
RECRUITINGGene Transfer Clinical Trial for Krabbe Disease
ACTIVE NOT RECRUITINGGene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCT
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools