| 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 |
|
| Properties | |