GPMM; Phosphorylase,Glycogen; McArdle Syndrome,Glycogen Storage Disease Type V; Myophosphorylase
Species:
Human
Sample type:
tissue homogenates, cell lysates or other biological fluids.
Experimental method:
Sandwich
Shelf life:
12 months
Gene ID:
5837
UniProt ID:
P11217
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 encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.
