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]
Immunogen
A synthesized peptide derived from human Glucosylceramidase beta (Glucosylceramidase beta (GBA))
Physikalische Form
Buffer: PBS with 0.02% sodium azide,0.05% BSA,50% glycerol,pH7.3.
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