Recombinant Human GAA

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

Specification

• Species: Human
• Source: Wheat Germ
• Tag: Non
• Protein Length: 102 amino acids
• 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.
• Molecular Weight: 36.850kDa inclusive of tags
• 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

Citation

Phosphatidylserine Converts Immunogenic Recombinant Human Acid Alpha-Glucosidase to a Tolerogenic Form in a Mouse Model of Pompe Disease

Journal: Journal of pharmaceutical sciences    PubMed ID: 27488899    Data: 2016/7/31

Authors: Jennifer L. Schneider, Sathy V. Balu-Iyer

Article Snippet:Recombinant human GAA expressed in human embryonic kidney cells was obtained from Creative BioMart (Shirley, New York).. The activity of the protein was confirmed by an enzymatic substrate cleavage assay (described below) and it was found that the product bound to human anti-rhGAA antibodies purchased from Sigma Aldrich by ELISA.The activity of the protein was confirmed by an enzymatic substrate cleavage assay (described below) and it was found that the product bound to human anti-rhGAA antibodies purchased from Sigma Aldrich by ELISA.