Recombinant Human GAA protein, MYC/DDK-tagged GAA-177H

Recombinant Human GAA protein, MYC/DDK-tagged

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Recombinant Human GAA protein, MYC/DDK-tagged

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Cat.No. : GAA-177H
Product Overview : Recombinant Human GAA, transcript variant 2, fused with MYC/DDK tag at C-terminal was expressed in HEK293.
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_001079803
Protein Refseq : NP_001073271
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;

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