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]
Analyze
CFDE DD-Knowledge Graph
The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View PYGM's neighborhood in the knowledge graph.
The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for PYGM.