NEFH

Description

The NEFH (neurofilament heavy chain) is a protein-coding gene located on chromosome 22.

Neurofilament, heavy polypeptide (NEFH) is a protein encoded by the NEFH gene in humans. It combines with medium and light subunits to create neurofilaments, which provide structural support for nerve cells. Mutations in the NEFH gene are linked to Charcot-Marie-Tooth disease.

Neurofilaments, composed of three intermediate filament proteins (NEFL, NEFM, and NEFH), are essential for maintaining the proper diameter of neurons. NEFH plays a crucial role in mature axons, a function not shared by the smaller NF proteins. It can also interact with other neuronal intermediate filament proteins, PRPH and INA, to form complex filamentous networks within neurons.

NEFH is also known as CMT2CC, NFH.

Associated Diseases


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