Species: Hu
Applications: WB, IHC
Host: Rabbit Monoclonal
Species: Hu
Applications: WB, IHC
Host: Rabbit Monoclonal
Species: Hu, Mu, Rt
Applications: WB, IHC
Host: Rabbit Polyclonal
Species: Hu
Applications: ELISA
Species: Rt
Applications: ELISA
Species: Mu
Applications: ELISA
Species: Ec
Applications: Func
Species: Hu
Applications: WB
Species: Hu
Applications: WB
Species: Hu
Applications: WB
Species: Hu
Applications: Enzyme Activity
Species: Mu
Applications: Enzyme Activity
Species: Hu
Applications: AC
Description
GAA 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]
Bioinformatics
Entrez |
Human |
Uniprot |
Human Human Human Human Human |
Product By Gene ID |
2548 |
Alternate Names |
- Acid maltase
- Aglucosidase alfa
- EC 3.2.1.20
- glucosidase, alpha; acid
- LYAG
- lysosomal alpha-glucosidase
|