Protein Name galactosylceramidase
Organism Mus musculus
Gene ID 14420
Gene Symbol

Galc

UniProt P54818 (GALC_MOUSE)
Relationships Total Number of functionally related compound(s) : 52
Total Number of Articles : 63
Description

galactosylceramidase

Gene 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]

synonyms
  • galactocerebrosidase
  • GALCERase
  • galactocerebroside beta-galactosidase
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Properties