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. [provided by RefSeq, Jan 2010],GBA,GBA1,GCB,GLUC,Cancer,Cell Type Marker,Cell Type Marker_Oligodendrocyte marker,Endocrine & Metabolism,Lipid Metabolism,Neurodegenerative Diseases,Neurodegenerative Diseases_Dopamine Signaling in Parkinsons Disease,Neuroscience,Signal Transduction,GBA