Active Recombinant Human Acid α-glucosidase (GAA)

• Cat.No.: GAA-002H
• Product Overview: Recombinant human GAA protein was expressed in HEK293T.

Specification

• Species: Human
• Source: HEK293
• Tag: His
• 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.
• Form: Lyophilized from sterile PBS (pH7.4), 300 mM NaCl, 1 mM DTT.
• Bio-activity: Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.
• Molecular Mass: The recombinant α-glucosidase comprises 952 amino acids with a predicted MW of 105 kDa. Then it is cleaved into the following 2 chains: 76 kDa or 70 kDa during post-translational modification.
• Storage: Store it at +4ºC for short term (4 weeks). For long term storage( 12 months), store it at -20ºC~-70ºC from date of receipt. Avoid freeze-thaw cycles.
• Reconstitution: It is recommended that sterile water be added to the vial to prepare a stock solution of 0.2 ug/ul. Centrifuge the vial at 4℃ before opening to recover the entire contents.
• Publications:
  Phosphatidylserine Converts Immunogenic Recombinant Human Acid Alpha-Glucosidase to a Tolerogenic Form in a Mouse Model of Pompe Disease (2016)

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

Citation

Rational design of a nanoparticle platform for oral prophylactic immunotherapy to prevent immunogenicity of therapeutic proteins

Journal: Scientific Reports    PubMed ID: 34497305    Data: 2021/9/8

Authors: Nhan H. Nguyen, Fiona Y. Glassman, Sathy V. Balu-Iyer

Article Snippet:All recombinant FVIII products were generous gifts from the Western New York BloodCare (Buffalo, NY).All recombinant FVIII products were generous gifts from the Western New York BloodCare (Buffalo, NY).. Endograde Ovalbumin was purchased from BioVendor LLC (Asheville, NC) and GAA was purchased from Creative BioMart Inc (Shirley, NY). . All solvents and buffer salts were obtained from Fisher Scientific (Fairlawn, NJ).All solvents and buffer salts were obtained from Fisher Scientific (Fairlawn, NJ).