Rockville, MD/Seattle, WA ?May 11, 2010 ?OriGene and the Institute for Systems Biology (ISB), announce plans to create a proteotypic PeptideAtlas and develop an SRM/MRM mass spectrometry standard database for 5,000 human proteins (Press Release)
Summary: 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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