PFKM, Official Symbol PFKMprovided by HGNC Official Full Name phosphofructokinase, muscleprovided by HGNC Primary source HGNC:HGNC:8877 See related Ensembl:ENSG00000152556 MIM:610681; AllianceGenome:HGNC:8877 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 GSD7; PFK1; PFKA; PFKX; PFK-1; PFK-A; ATP-PFK; PPP1R122 Summary 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] Expression Broad expression in heart (RPKM 77.2), brain (RPKM 32.0) and 21 other tissues See more Orthologs mouse all