Reactome: A Curated Pathway Database

Glucosylceramidase cleaves the glucosidic bond of glucocerebroside to form ceramide

Stable Identifier
R-HSA-1605591
Type
Reaction
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Summation

Human glucosylceramidase (GBA) hydrolyses the glucosidic bond of glucocerebrosides to form ceramide (Dinur et al. 1986). GBA requires a low weight, non-enzymatic protein (one of the sphingolipids activator proteins) called Saposin-C (SAP-C) which acts with GBA to form an activated complex (Salvioli et al. 2000). Defects in GBA are the cause of Gaucher disease (GD) (MIM:230800), the most common glycolipid storage disorder, characterized by storage of glucocerebroside in the liver, spleen, and marrow (Beutler & Gelbart 1996).

Literature References
Participants
Participant Of
This entity is regulated by:
Title Physical Entity Activity
glucosylceramidase activity of GBA:SAPC [lysosomal membrane] GBA:SAPC [lysosomal membrane] glucosylceramidase activity (0004348)
Orthologous Events