Aliases for GAA Gene
External Ids for GAA Gene
Previous GeneCards Identifiers for GAA Gene
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]
GeneCards Summary for GAA Gene
GAA (Alpha Glucosidase) is a Protein Coding gene. Diseases associated with GAA include Glycogen Storage Disease Ii and Glycogen Storage Disease. Among its related pathways are Notch-mediated HES/HEY network and Lysosome. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and alpha-1,4-glucosidase activity. An important paralog of this gene is MGAM.
UniProtKB/Swiss-Prot Summary for GAA Gene
Essential for the degradation of glycogen in lysosomes (PubMed:1856189, PubMed:7717400, PubMed:14695532, PubMed:18429042). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980).
Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.