Neurofilament heavy polypeptide (NEFH)

Neurofilament heavy polypeptide (NEFH) is a **type IV intermediate filament protein** and a core component of neurofilaments, which along with NEFL (light) and NEFM (medium) subunits, form the major cytoskeletal elements of neurons[2][5][6]. NEFH is essential for the **maintenance of neuronal shape and axonal caliber**, supporting fast axonal transport and contributing to the mechanical strength and stability of axons[2][5][6]. It is highly phosphorylated in axons, and its phosphorylation status modulates neurofilament spacing and axonal properties[2]. NEFH is not an enzyme, receptor, transporter, or typical pharmacological target, but instead is a **structural protein**. Mutations in NEFH are associated with **neurodegenerative diseases**, including Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis (ALS)[3][5][7]. Levels of NEFH (or its phosphorylated forms) in cerebrospinal fluid or blood are widely used as a **biomarker** for neuronal injury and axonal degeneration in clinical and research settings[5][7].

Other names

Neurofilament heavy chainNEFHNFH200 kDa neurofilament proteinNeurofilament triplet H proteinNeurofilament heavyNeurofilament heavy polypeptide 200 kDaCMT2CC