We apologize for Proteopedia being slow to respond. For the past two years, a new implementation of Proteopedia has been being built. Soon, it will replace this 18-year old system. All existing content will be moved to the new system at a date that will be announced here.
[K6PF_HUMAN] Glycogen storage disease due to muscle phosphofructokinase deficiency. The disease is caused by mutations affecting the gene represented in this entry.
Function
[K6PF_HUMAN] Catalyzes the third step of glycolysis, the phosphorylation of fructose-6-phosphate (F6P) by ATP to generate fructose-1,6-bisphosphate (FBP) and ADP.[HAMAP-Rule:MF_00339]