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GAA Full-Length MS Protein Standard

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Product Description


NameGAA Full-Length MS Protein Standard
Cat#CPFL308033
Protein Nameglucosidase, alpha; acid
SymbolGAA
SynonymsLYAG
AccessionNM_001079804
Cytogenetic17q25.2-q25.3
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionGAA Full-Length MS Protein Standard (NP_001073272), 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 acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompes disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene.

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