A synthetic peptide for use as a blocking control in assays to test for specificity of GBA antibody, Alternative Names: GBA control peptide, GBA antibody Blocking Peptide, Anti-GBA Blocking Peptide, glucosidase, beta, acid Blocking Peptide, GBA1 Blocking Peptide, GCB Blocking Peptide, GLUC Blocking Peptide
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.