PYGM, Official Symbol PYGMprovided by HGNC Official Full Name glycogen phosphorylase, muscle associatedprovided by HGNC Primary source HGNC:HGNC:9726 See related Ensembl:ENSG00000068976 MIM:608455; AllianceGenome:HGNC:9726 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GSD5 Summary 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.[provided by RefSeq, Sep 2009] Expression Biased expression in esophagus (RPKM 41.2), prostate (RPKM 24.2) and 6 other tissues See more Orthologs mouse all