Full name: glycogen phosphorylase, muscle associated

Gene type: protein coding

RefSeq status: REVIEWED

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

Gene size: 14327bp

Exon count: 20