DISEASES

Disease-gene associations mined from literature

Literature associating GBA2 and Charcot-Marie-Tooth disease type 2

GBA2 [ENSP00000367343]

Non-lysosomal glucosylceramidase; Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramide (GlcCer) to free glucose and ceramide . Glucosylceramides are membrane glycosphingolipids that have a wide intracellular distribution (By similarity). They are the main precursors of more complex glycosphingolipids that play a role in cellular growth, differentiation, adhesion, signaling, cytoskeletal dynamics and membrane properties (By similarity). Also involved in the transglucosylation of cholesterol, transferring glucose from glucosylceramides, thereby modifying its water solubility and biological properties (By similarity). Under specific conditions, may catalyze the reverse reaction, transferring glucose from cholesteryl- beta-D-glucoside to ceramide (By similarity). Finally, may also play a role in the metabolism of bile acids (PubMed:11489889, PubMed:9111029, PubMed:17080196). It is able to hydrolyze bile acid 3-O-glucosides but also to produce bile acid-glucose conjugates thanks to a bile acid glucosyl transferase activity (PubMed:11489889, PubMed:9111029, PubMed:17080196). However, the relevance of both activities is unclear in vivo (By similarity). ECO:0000269|PubMed:11489889, ECO:0000269|PubMed:17080196, ECO:0000269|PubMed:17105727, ECO:0000269|PubMed:30308956,

Synonyms:  GBA2,  GBA2p,  hGBA2,  A0A0A0MRV1,  Q9HCG7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM