Gene Symbol | PFKM |
Entrez Gene ID | 5213 |
Full Name | phosphofructokinase, muscle |
Synonyms | ATP-PFK,GSD7,PFK-1,PFK-A,PFK1,PFKA,PFKX,PPP1R122 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Glycogen storage disease VII, 232800 (3) |