Store at 4 deg C for short term storage. Aliquot and store at -20 deg C for long term storage. Avoid repeated freeze/thaw cycles.
General Information
Biological Significance
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.