GAA

Also known as LYAG, glucosidase alpha, acid, alpha glucosidase

protein-coding gene in the species Homo sapiens

Gene data

GAA

Name: alpha glucosidase
Type: protein-coding
Position: 80,101,533–80,119,881 (+)
Aliases: IOPD, LOPD, LYAG
Ensembl: ENSG00000171298
RefSeq RNA: NM_000152.5, NM_001079803.3, NM_001079804.3, NM_001406741.1, NM_001406742.1
RefSeq protein: NP_000143.2, NP_001073271.1, NP_001073272.1, NP_001393670.1, NP_001393671.1

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].