GAA, Official Symbol GAAprovided by HGNC Official Full Name alpha glucosidaseprovided by HGNC Primary source HGNC:HGNC:4065 See related Ensembl:ENSG00000171298 MIM:606800; AllianceGenome:HGNC:4065 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LYAG Summary 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] Expression Ubiquitous expression in testis (RPKM 28.0), placenta (RPKM 26.2) and 25 other tissues See more Orthologs mouse all