Description | PFKM (phosphofructokinase, muscle) is a regulatory glycolytic enzyme that convert fructose 6-phosphate and ATP into fructose 1, 6-bisphosphate (through PFK-1), fructose 2, 6-bisphosphate (through PFK-2) and ADP. Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. |
Other Names | 6-Phosphofructokinase muscle type, GSD7, PFK-1, PFK1, PFKA, PFKX, 6-Phosphofructokinase, muscle type 6 Phosphofructokinase Muscle Type, EC 2.7.1.11, MGC8699, PFKL, PFKM, PFKP, Phosphofructo 1 Kinase Isozyme A, Phosphofructokinase 1, Phosphofructokinase M, Phosphofructokinase, muscle, Phosphofructokinase, muscle type, Phosphofructokinase, polypeptide X, Phosphohexokinase |