{"symbol":"PYGM","synonyms":[],"name":"phosphorylase, glycogen, muscle","description":"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]","ncbiEntrezGeneId":5837,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5837","proteins":[{"symbol":"PYGM_HUMAN","href":"/api/1.0/protein/PYGM_HUMAN"}],"hgncRootFamilies":[{"name":"Glycosyltransferases","href":"/api/1.0/gene_family/Glycosyltransferases"}]}