Acid beta-glucosidase (GCase)

Acid beta-glucosidase (GCase, also known as glucocerebrosidase) is a lysosomal enzyme that catalyzes the hydrolysis of glucosylceramide (GlcCer) into glucose and ceramide, acting optimally at the acidic pH of the lysosome[3]. Deficiency or dysfunction of this enzyme due to biallelic mutations in the GBA gene causes accumulation of glucosylceramide, resulting in Gaucher disease, the most common lysosomal storage disorder[3]. GCase is also of clinical relevance for its genetic association with increased risk for Parkinson disease. Therapeutically, acid beta-glucosidase is a validated drug target for enzyme replacement and substrate reduction therapy in Gaucher disease.

Other names

GlucocerebrosidaseGBAbeta-glucosylceramidaseacid beta-glucosidase (EC 3.2.1.45)

Enzyme replacement therapy (for deficient enzyme in Gaucher disease), substrate reduction (reduce substrate accumulation)