Neurofilament, heavy polypeptide (NEFH) is a protein that in humans is encoded by the NEFH gene.It is the gene for a heavy protein subunit that is combined with medium and light subunits to make neurofilaments, which form the framework for nerve cells.Mutations in the NEFH gene are associated with Charcot-Marie-Tooth disease. Neurofilament heavy (NEFH) is one of the critical proteins required for the formation of the neuronal cytoskeleton and polymorphisms in NEFH are reported as a rare cause of sporadic ALS (sALS).
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