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Recombinant Human GAA

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

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