serum, plasma, tissue homogenates, cell lysates or other biological fluids.
Experimental method:
Sandwich
Shelf life:
12 months
Gene ID:
2548
UniProt ID:
P10253
Components:
1. Pre-coated, ready to use 96-well strip plate 1
2. Plate sealer for 96 wells 2
3. Standard 2
4. Diluents buffer: 1×45 mL
5. Detection Reagent A: 1×120 μL
6. Detection Reagent B: 1×120 μL
7. TMB Substrate: 1×9 mL
8. Stop Solution: 1×6 mL
9. Wash Buffer (30× concentrate): 1×20 mL
Background
This gene GaA 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.
