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GBA Full-Length MS Protein Standard

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Product Description


NameGBA Full-Length MS Protein Standard
Cat#CPFL301614
Protein Nameglucosidase, beta, acid
SymbolGBA
SynonymsGBA1; GCB; GLUC
AccessionNM_001005741
Cytogenetic1q21
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionGBA Full-Length MS Protein Standard (NP_001005741), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. 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.

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