Glucosylceramidase

Glucosylceramidase (pronounced gloo-koh-sil-ser-uh-mi-dase), also known as beta-glucocerebrosidase or GBA, is an enzyme that in humans is encoded by the GBA gene.

Etymology

The term "Glucosylceramidase" is derived from the words "glucose", "ceramide", and "ase". "Glucose" is a type of sugar, "ceramide" is a family of waxy lipid molecules, and "ase" is a suffix used in biochemistry to denote enzymes.

Function

Glucosylceramidase is a lysosomal enzyme that cleaves the beta-glucosidic linkage of the molecular species glucosylceramide, an intermediate in glycolipid metabolism. It is significant in the process of converting glucosylceramide to ceramide and glucose.

Clinical significance

Mutations in the GBA gene that encodes glucosylceramidase are associated with Gaucher disease, a lysosomal storage disorder. In Gaucher disease, the enzyme's function is reduced, leading to an accumulation of glucosylceramide, particularly in the spleen, liver, and bone marrow.

Related terms

Enzyme: A protein that acts as a biological catalyst.
Lysosome: A membrane-bound cell organelle that contains digestive enzymes.
Gaucher disease: A genetic disorder in which glucosylceramide accumulates in cells and certain organs.
GBA gene: The gene that encodes the glucosylceramidase enzyme.
Glycolipid: Lipids with a carbohydrate attached by a glycosidic bond.

External links

Medical encyclopedia article on Glucosylceramidase
Wikipedia's article - Glucosylceramidase

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Glucosylceramidase