Western blot analysis of PYGM (arrow) using PYGM polyclonal antibody (Cat # PAB1876). 293 cell lysates (2 ug/lane) either nontransfected (Lane 1) or transiently transfected with the PYGM gene (Lane 2) (Origene Technologies).
Formalin-fixed and paraffin-embedded human skeletal muscle tissue reacted with PYGM polyclonal antibody (Cat # PAB1876) , which was peroxidase-conjugated to the secondary antibody, followed by DAB staining. This data demonstrates the use of this antibody for immunohistochemistry; clinical relevance has not been evaluated.
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)