Target intelligence / Profile preview

Beta-glucosidase 2 (GBA2)

Target
GBA2
Molecular classification
Enzyme, Glycoside hydrolase family GH116
01

Overview

Beta-glucosidase 2 (GBA2) is a non-lysosomal enzyme that catalyzes the hydrolysis of glucosylceramide, a membrane lipid, into glucose and ceramide. This reaction is crucial for the metabolism of glycosphingolipids on the cytoplasmic face of cellular membranes. Mutations in the GBA2 gene are associated with genetic neurological disorders such as hereditary spastic paraplegia and cerebellar ataxia, highlighting its importance in nervous system function. It belongs to the Glycoside hydrolase family GH116, distinct from lysosomal glucocerebrosidase/GBA which belongs to GH30.

02

Mechanism of action

Hydrolyzes glucosylceramide into glucose and ceramide using a double-displacement mechanism.

03

Biological functions

Sphingolipid metabolismGlycolipid metabolismHydrolysis of glucosylceramide
04

Disease associations

Hereditary spastic paraplegiaCerebellar ataxiaNeurological disorders
05

Interacting drugs

N-butyldeoxygalactonojirimycin

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