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Description
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. Synonyms: Polyclonal GBA antibody, Anti-GBA antibody, glucosidase, beta, acid antibody, GBA1 antibody, GCB antibody, GLUC antibody.
Immunogen
GBA antibody was raised in rabbit using the C terminal of GBA as the immunogen