Recombinant Human GAA

• Cat.No.: GAA-28087TH
• Product Overview: Recombinant fragment Human GAA with N-terminal proprietary tag. Predicted MW 36.85kDa.

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 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.
• Protein length: 102 amino acids
• Molecular Weight: 36.850kDa inclusive of tags
• Source: Wheat germ
• Form: Liquid
• Purity: Proprietary Purification
• Storage buffer: pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl
• Storage: Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
• Sequence Similarities: Belongs to the glycosyl hydrolase 31 family.Contains 1 P-type (trefoil) domain.

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
• 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
• Function: alpha-glucosidase activity; carbohydrate binding; hydrolase activity, hydrolyzing O-glycosyl compounds; maltose alpha-glucosidase activity