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.
