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 mutliple transcript variants.