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.
Alternative names and synonyms associated with GAA
glucosidase alpha, acid (GAA) ELISA Kit
transmembrane and coiled-coil domain family 1 (TMCC1) ELISA Kit