GBA, EnkiLife, AMRe11321

Defects in GBA are the cause of Gaucher disease (GD) [MIM: 230800]; also known as glucocerebrosidase deficiency. GD is the most prevalent lysosomal storage disease, characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose (PubMed: 9201993, PubMed: 24211208, PubMed: 15916907). Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes (PubMed: 27378698). Through the production of ceramides, participates in the PKC-activated salvage pathway of ceramide formation (PubMed: 19279011). Also plays a role in cholesterol metabolism (PubMed: 24211208, PubMed: 26724485). May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol (PubMed: 24211208, PubMed: 26724485). The short chain saturated C8: 0- GlcCer and the mono-unsaturated C18: 0-GlcCer being the most effective glucose donors for that transglucosylation reaction (PubMed: 24211208). Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide (PubMed: 26724485). Finally, may also hydrolyze cholesteryl- beta-D-glucoside to produce D-glucose and cholesterol (PubMed: 24211208, PubMed: 26724485).