PFKM : phosphofructokinase, muscle

Description

The PFKM gene encodes the muscle-specific isoform of phosphofructokinase (PFK), a crucial enzyme in the glycolytic pathway. PFK catalyzes the conversion of fructose-6-phosphate to fructose-1,6-bisphosphate, a rate-limiting step in glycolysis. This enzyme plays a vital role in providing energy for muscle contraction and other cellular processes. Variations in the PFKM gene can lead to a range of metabolic disorders, primarily affecting skeletal muscle function.

Associated Diseases

• Tarui Disease (Glycogen Storage Disease Type VII)
• Myopathy with Exercise Intolerance
• Progressive Myopathy with Exercise-Induced Cramps
• Hypoglycemia

Did you know?

PFKM deficiency, the genetic basis of Tarui disease, is often referred to as "muscle glycogenosis" due to the accumulation of glycogen in muscle tissue.