Glucocerebrosidase (GBA)

Glucocerebrosidase is an enzyme (EC 3.2.1.45) that is needed to cleave, by hydrolysis, the beta-glucosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism. It is localized in the lysosome and has a molecular weight of 59700 Daltons. In November 2008 GBA was the gene with the strongest association with Parkinson's disease in the PDGene database The initial study that examined this link was published in 2004.
Mutations in the gene cause Gaucher's disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants encoding the same protein.