{"symbol":"PFKM","synonyms":["GSD7","PFK1","PPP1R122","PFK-A","PFK-1","PFKX","PFKA"],"name":"phosphofructokinase, muscle","description":"Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]","ncbiEntrezGeneId":5213,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5213","proteins":[{"symbol":"PFKAM_HUMAN","href":"/api/1.0/protein/PFKAM_HUMAN"}],"hgncRootFamilies":[{"name":"Protein phosphatase 1 regulatory subunits (PPP1R)","href":"/api/1.0/gene_family/Protein+phosphatase+1+regulatory+subunits+%28PPP1R%29"}]}