Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections) of human skeletal muscle with PYGM polyclonal antibody (Cat # PAB28176). Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval.
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)