PFKP

PFKP (Phosphofructokinase, Platelet) is a protein that in humans is encoded by the PFKP gene. This protein is a member of the phosphofructokinase family, which is a group of enzymes responsible for regulating the rates of glycolysis and gluconeogenesis in the body.

Function

The PFKP protein is one of three isoenzymes of phosphofructokinase (PFK), the others being PFKL (liver type) and PFKM (muscle type). These isoenzymes function as subunits of the PFK enzyme, which is a tetramer composed of different combinations of the three PFK isoenzymes. The PFKP isoenzyme is predominantly found in the platelets, hence its name.

Phosphofructokinase is a key enzyme in the regulation of glycolysis as it catalyzes the irreversible conversion of fructose 6-phosphate to fructose 1,6-bisphosphate, a critical step in the glycolytic pathway.

Clinical Significance

Mutations in the PFKP gene have been associated with certain medical conditions. For instance, a deficiency in PFKP can lead to Glycogen storage disease type VII (Tarui disease), a metabolic disorder characterized by exercise intolerance, muscle weakness, and hemolytic anemia.

Furthermore, the overexpression of PFKP has been observed in various types of cancers, including breast cancer and colorectal cancer, suggesting a potential role in tumor growth and progression.

See Also

• Phosphofructokinase
• Glycolysis
• Gluconeogenesis
• Glycogen storage disease type VII