Immunoprecipitation of GBA transfected lysate using anti-GBA MaxPab rabbit polyclonal antibody and Protein A Magnetic Bead (U0007), and immunoblotted with GBA purified MaxPab mouse polyclonal antibody (B01P) (H00002629-B01P).
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher 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. [provided by RefSeq