1. Gene
  2. Galc - galactosylceramidase Gene

Galc - galactosylceramidase Gene

Mus musculus

Also known as twi; Gacy; twitcher; 2310068B06Rik; A930008M05Rik

Gene ID: 14420 | Gene type: protein coding

About Galc

Summary

This gene encodes galactosylceramidase, the lysosomal hydryolase involved in the catabolism of galactosylceramide. Mutations in this gene result in slow growth, tremors and hind leg weakness, collectively termed as the 'twitcher' phenotype. In humans, deficiency of this gene product causes a lysosomal storage disorder known as Krabbe disease. [provided by RefSeq, Dec 2014]

Galc Products(1)

mRNA Protein Name
NM_008079.4 NP_032105.2 galactocerebrosidase precursor
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables galactosylceramidase activity IDA
IDA: Inferred from direct assay
8769874 MGI
enables galactosylceramidase activity IMP
IMP: Inferred from mutant phenotype
11371512 MGI
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within galactosylceramide catabolic process IDA
IDA: Inferred from direct assay
11371512 MGI
acts upstream of or within galactosylceramide catabolic process IMP
IMP: Inferred from mutant phenotype
11371512 MGI
involved in galactosylceramide catabolic process IMP
IMP: Inferred from mutant phenotype
8769874 MGI
acts upstream of or within myelination IMP
IMP: Inferred from mutant phenotype
11371512 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

galactocerebrosidase

GALCERase

galactocerebroside beta-galactosidase

galactosylceramide beta-galactosidase

Orthologs Information

Species Symbol Source ID
Homo sapiens Galc NCBI NCBI:2581