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].