PFKM is regulatory glycolytic enzymes 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.