Acid alpha-glucosidase
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Acid alpha-glucosidase, also called acid maltase,[5] is an enzyme that helps to break down glycogen in the lysosome. It is functionally similar to glycogen debranching enzyme, but is on a different chromosome, processed differently by the cell and is located in the lysosome rather than the cytosol.[6] In humans, it is encoded by the GAA gene.[5] Errors in this gene cause glycogen storage disease type II (Pompe disease).
Function
This gene encodes lysosomal 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 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.[5]