DISEASES

Disease-gene associations mined from literature

Literature associating GBA and sphingolipidosis

GBA [ENSP00000314508]

Lysosomal acid glucosylceramidase; Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose . Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes . Through the production of ceramides, participates to the PKC-activated salvage pathway of ceramide formation . Also plays a role in cholesterol metabolism . May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol . The short chain saturated C8:0- GlcCer and the mono-unsaturated C18:0-GlcCer being the most effective glucose donors for that transglucosylation reaction . Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide . Finally, may also hydrolyze cholesteryl- beta-D-glucoside to produce D-glucose and cholesterol (PubMed:24211208, PubMed:26724485). ECO:0000269|PubMed:24211208, ECO:0000269|PubMed:26724485,

Synonyms:  GBA,  A0A068F658,  P04062,  P04062p,  hP04062 ...

Linkouts:  STRING  Pharos  UniProt  OMIM