This gene encodes acid alpha-glucosidase, which isessential for the degradation of glycogen to glucose in lysosomes.Different forms of acid alpha-glucosidase are obtained byproteolytic processing. Defects in this gene are the cause ofglycogen storage disease II, also known as Pompe"s disease, whichis an autosomal recessive disorder with a broad clinical spectrum.Three transcript variants encoding the same protein have been foundfor this gene.
The stated application concentrations are suggested starting points. Titration of the GAA antibody may be required due to differences in protocols and secondary/substrate sensitivity.
A portion of amino acids 174-203 from the human protein were used as the immunogen for the GAA antibody.
Aliquot the GAA antibody and store frozen at -20oC or colder. Avoid repeated freeze-thaw cycles.
