(1) Rat liver homogenate (50 ug of total protein). (2) 10 ug purified rat liver glycogen (see Parker et al, BBRC 2007). (3) Human skeletal muscle homogenate (50 ug of total protein). (4) Immunoprecipitation of PYGM from 500 ug human skeletal muscle homogenate.
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
McArdle syndrome,glycogen phosphorylase,glycogen storage disease type V,myophosphorylase,phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V)