Acid alpha-glucosidase

GAA
Identifiers
Aliases	GAA, LYAG, glucosidase alpha, acid, alpha glucosidase
External IDs	OMIM: 606800 MGI: 95609 HomoloGene: 37268 GeneCards: GAA
Gene location (Human)
Chr.	Chromosome 17 (human)
End	80,119,881 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	119,176,280 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; monocyte; ; anterior pituitary; ; right lung; ; spleen; ; upper lobe of left lung; ; gastric mucosa; ; stromal cell of endometrium; ; right lobe of thyroid gland; ; minor salivary gland;
	Top expressed in
	arcuate nucleus; ; paraventricular nucleus of hypothalamus; ; median eminence; ; dorsomedial hypothalamic nucleus; ; ventromedial nucleus; ; suprachiasmatic nucleus; ; supraoptic nucleus; ; entorhinal cortex; ; lateral hypothalamus; ; ventral tegmental area;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	hydrolase activity, hydrolyzing O-glycosyl compounds; hydrolase activity, acting on glycosyl bonds; maltose alpha-glucosidase activity; catalytic activity; hydrolase activity; carbohydrate binding; oligo-1,6-glucosidase activity; alpha-1,4-glucosidase activity; alpha-glucosidase activity;
Cellular component	membrane; lysosomal membrane; lysosomal lumen; lysosome; extracellular exosome; plasma membrane; azurophil granule membrane; tertiary granule membrane; ficolin-1-rich granule membrane; integral component of membrane;
Biological process	vacuolar sequestering; cardiac muscle contraction; muscle cell cellular homeostasis; neuromuscular process controlling posture; locomotory behavior; neuromuscular process controlling balance; regulation of the force of heart contraction; diaphragm contraction; heart morphogenesis; maltose metabolic process; glycogen catabolic process; sucrose metabolic process; tissue development; glycogen metabolic process; metabolism; lysosome organization; striated muscle contraction; glucose metabolic process; neutrophil degranulation; carbohydrate metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	2548
	14387
	ENSG00000171298
	ENSMUSG00000025579
	P10253
	P70699
	NM_000152; NM_001079803; NM_001079804
	NM_001159324; NM_008064
	NP_000143; NP_001073271; NP_001073272
	NP_001152796; NP_032090
	Wikidata
View/Edit Human	View/Edit Mouse

Acid alpha-glucosidase, also called acid maltase, 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. In humans, it is encoded by the GAA gene. Errors in this gene cause glycogen storage disease type II (Pompe disease).

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