Disease-gene associations mined from literature

Literature associating GBA2 and Sandhoff disease

GBA2 [ENSP00000367343]

Non-lysosomal glucosylceramidase; Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development. Required for proper formation of motor neuron axons.

Synonyms:  GBA2,  GBA2p,  hGBA2,  LOC102725226,  F5H7P6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM