Recombinant protein (or fragment).This information is considered to be commercially sensitive.
Conjugation:
Unconjugated
Alternative Names:
GBA, GCB, GLUC, Glucosylceramidase beta (GBA)
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.