靶标：
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 lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016],
