GAA
glucosidase, alpha; acid
Synonyms:
LYAG
Species:
Human GAA (2548), Mouse Gaa (14387), Rat Gaa (367562), Zebrafish gaa (100002366), domestic cat GAA (101086359), cow GAA (280798), Horse GAA (100056675), dog GAA (483352), chicken GAA (416462), sheep GAA (101121692) ...More
UniProtKB ID:
Gene ID:
- Human(2548) Summary: This gene encodes acid 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's 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. [provided by RefSeq, Jul 2008]
- Mouse(14387) glucosidase, alpha, acid
- Rat(367562) glucosidase, alpha, acid
- Zebrafish(100002366) glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)
- domestic cat(101086359) glucosidase, alpha; acid
- cow(280798) glucosidase, alpha; acid
- Horse(100056675) glucosidase, alpha; acid
- dog(483352) glucosidase, alpha; acid
- chicken(416462) glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)
- sheep(101121692) glucosidase, alpha; acid
- domestic guinea pig(100728030) glucosidase, alpha; acid
- naked mole-rat(101718861) glucosidase, alpha; acid
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