Recombinant Human GAA protein, MYC/DDK-tagged

• Cat.No.: GAA-176H
• Product Overview: Recombinant Human GAA, transcript variant 1, fused with MYC/DDK tag at C-terminal was expressed in HEK293.

Specification

• Description: 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 Pompe's 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.
• Source: HEK293
• Species: Human
• Tag: MYC/DDK
• Form: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol.
• Molecular Mass: 102.5 kDa
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining.
• Concentration: >50 ug/mL as determined by microplate BCA method

Gene Information

• Gene Name: GAA glucosidase, alpha; acid [ Homo sapiens ]
• Official Symbol: GAA
• Synonyms: GAA; glucosidase, alpha; acid; lysosomal alpha-glucosidase; glycogen storage disease type II; Pompe disease; acid maltase; aglucosidase alfa; LYAG
• Gene ID: 2548
• mRNA Refseq: NM_000152
• Protein Refseq: NP_000143
• MIM: 606800
• UniProt ID: P10253
• Chromosome Location: 17q25.2-q25.3
• Pathway: Galactose metabolism, organism-specific biosystem; Galactose metabolism, conserved biosystem; Lysosome, organism-specific biosystem; Lysosome, conserved biosystem; Metabolic pathways, organism-specific biosystem; Notch-mediated HES/HEY network, organism-specific biosystem; Starch and sucrose metabolism, organism-specific biosystem
• Function: alpha-glucosidase activity; carbohydrate binding; hydrolase activity, hydrolyzing O-glycosyl compounds; maltose alpha-glucosidase activity