當前位置:首頁 > 產(chǎn)品中心 > 抗體/抗原 > 標記一抗 > bs-13254R-FITCFITC標記的α葡萄糖苷酶/溶酶體α-葡糖苷酶抗體
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].
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