DISEASES

Disease-gene associations mined from literature

Literature associating GALC and lipid storage disease

GALC [ENSP00000261304]

Galactocerebroside beta-galactosidase; Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. 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; Belongs to the glycosyl hydrolase 59 family.

Synonyms:  GALC,  E7EPA4,  G3V255,  G3V4M2,  G3V5E8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM