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.
Phosphofructokinase, Muscle; Protein Phosphatase 1, Regulatory Subunit 122; Phosphofructokinase, Polypeptide X; Phosphofructo-1-Kinase Isozyme A; -Phosphofructokinase Type A; Phosphohexokinase; EC 22.214.171.124; ATP-PFK; PFK-A; PFKX; ATP-Dependent 6-Phosphofru