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.
