| 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 |
|
| 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) |









































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