This gene encodes acid alpha-glucosidase, which isnessential for the degradation of glycogen to glucose in lysosomes.nDifferent forms of acid alpha-glucosidase are obtained bynproteolytic processing. Defects in this gene are the cause ofnglycogen storage disease II, also known as Pompe's disease, whichnis an autosomal recessive disorder with a broad clinical spectrum.nThree transcript variants encoding the same protein have been foundnfor this gene.
应用类型
WB,IHC
免疫原
This GAA antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 174-203 amino acids from the N-terminal region of human GAA.
