α葡萄糖苷酶/溶酶體α-葡糖苷酶重組兔單抗

Name: α葡萄糖苷酶/溶酶體α-葡糖苷酶重組兔單抗bsm-62357R
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簡要描述：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].