DISEASES

Disease-gene associations mined from literature

Literature associating GALC and GM1 gangliosidosis type 1

GALC [ENSP00000261304]

Galactocerebrosidase; 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,  A0A087WX10,  A0A0A0MQV0,  G3V255,  G3V4M2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM