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.
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Protein Aliases: 70 kDa lysosomal alpha-glucosidase; 76 kDa lysosomal alpha-glucosidase; Acid maltase; Aglucosidase alfa; Lysosomal alpha-glucosidase
Gene Aliases: GAA; LYAG
UniProt ID: (Human) P10253
Entrez Gene ID: (Human) 2548