Bio Background |
This gene encodes a lysosomal membrane protein thatcleaves the beta-glucosidic linkage of glycosylceramide, anintermediate in glycolipid metabolism. Mutations in this gene causeGaucher disease, a lysosomal storage disease characterized by anaccumulation of glucocerebrosides. A related pseudogene isapproximately 12 kb downstream of this gene on chromosome 1.Alternative splicing results in multiple transcript variants. |
Bio References |
Dos Santos, A.V., et al. Neurosci. Lett. 485(2):121-124(2010)Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Jeong, S.Y., et al. Blood Cells Mol. Dis. (2010) In press :Hu, F.Y., et al. Eur. J. Neurol. (2010) In press :Velayati, A., et al. Curr Neurol Neurosci Rep 10(3):190-198(2010) |