基因名：
GAA
产品别名：
LYAG； GAA； alpha glucosidase； alpha glucosidase； lysosomal alpha-glucosidase； acid maltase； aglucosidase alfa； glucosidase alpha, acid； α葡萄糖苷酶/溶酶体α-葡糖苷酶； 酸性葡糖苷酶α(GaA)；
背景信息：
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. [provided by RefSeq, Jul 2008].
