beta-glucocerebrosidase

Beta-glucocerebrosidase (also known as acid beta-glucosidase or GCase) is a lysosomal enzyme that catalyzes the hydrolysis of glucosylceramide into glucose and ceramide. Deficiencies in this enzyme, caused by mutations in the GBA1 gene, lead to the lysosomal storage disorder Gaucher disease, characterized by the accumulation of glucosylceramide in macrophages (Gaucher cells). Recombinant forms of beta-glucocerebrosidase are used as enzyme replacement therapy (ERT) to restore enzymatic activity and alleviate systemic symptoms in patients with Gaucher disease. Additionally, GBA1 mutations are the most common genetic risk factor for Parkinson's disease, where reduced GCase activity is linked to the accumulation of alpha-synuclein, prompting the development of GCase-targeted therapies for neurodegenerative conditions.

Brand names

CerezymeVprivElelysoCeredase

Other names

GCaseacid beta-glucosidaseglucosylceramidaseD-glucosyl-N-acylsphingosine glucohydrolase