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Recombinant Human GAA protein, MYC/DDK-tagged

Cat.No. : GAA-175H
Product Overview : Recombinant Human GAA, transcript variant 3, fused with MYC/DDK tag at C-terminal was expressed in HEK293.
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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 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_001079804
Protein Refseq : NP_001073272
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;

For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.

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Q&As (5)

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How does GAA protein relate to other enzymes involved in glycogen metabolism? 11/09/2021

GAA protein is one of several enzymes involved in glycogen metabolism, each playing a specific role in glycogen breakdown.

What are the treatment options for Pompe disease? 02/27/2021

Enzyme replacement therapy (ERT) and gene therapy are two treatment options available for Pompe disease patients to replace or correct the deficient GAA protein.

Are there any other diseases or conditions related to GAA protein deficiency? 09/30/2020

GAA protein deficiency is primarily associated with Pompe disease, but there are other glycogen storage diseases related to deficiencies of different enzymes.

How does ERT work in treating Pompe disease? 05/30/2020

ERT involves the infusion of recombinant GAA protein to replace the missing or deficient enzyme in Pompe disease patients.

Can GAA protein therapy reverse the effects of Pompe disease? 05/03/2016

While GAA protein therapy can improve the symptoms and quality of life for Pompe disease patients, it may not fully reverse the damage caused by the disease.

Customer Reviews (3)

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Reviews
08/11/2020

    Additionally, cost-effectiveness, competitive pricing, and bulk purchase options can also be advantageous for researchers working within limited budgets.

    09/05/2019

      The ability to customize the GAA protein variants or modifications offered by the manufacturer is also advantageous, as it allows me to tailor the protein to my specific research objectives.

      01/28/2018

        I appreciate the manufacturer's commitment to maintaining exceptional protein quality standards, which ensures reliable and consistent results in my trials.

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