Glucocerebrosidase

Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase or GCase) is a lysosomal enzyme that catalyzes the hydrolysis of the β-glucosidic bond of glucocerebroside (D-glucosyl-N-acylsphingosine), an intermediate in glycolipid metabolism.

Clinical: Mutations in the glucocerebrosidase gene (GBA gene) are the cause of Gaucher disease, a lysosomal storage disorder. Meanwhile, an increased risk of heterozygous carriers of glucocerebrosidase mutations for PD is also observed. In particular, the disease occurs earlier than in the normal population. The accumulation of alpha-synuclein in lysosomes observed in PD is directly attributable to glucosylceramidase deficiency.

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3. Mata IF et al (2008) Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol 65:379-382.
4. Orvisky E et al (2002) The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. Hum Mutat 19458-459.