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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GAA-20-RE | 20 (40 μL) | 200 μL |  |
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| GAA-20-OR | 20 (40 μL) | 200 μL |  |
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| GAA-20-GO | 20 (40 μL) | 200 μL |  |
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| GAA-20-GR | 20 (40 μL) | 200 μL |  |
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| GAA-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : GAA
Gene Name : Glucosidase alpha, acid
Chromosome : CHR 17: 801,015,25-801,198,81
Locus : 17q25.3
Alt. Genes : HIPK3
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