Reactome: A Curated Pathway Database
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Glucosylceramidase cleaves the glucosidic bond of glucocerebroside to form ceramide

Stable Identifier
Homo sapiens
Locations in the PathwayBrowser

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
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