NEFM

Description

The NEFM (neurofilament medium chain) is a protein-coding gene located on chromosome 8.

Neurofilament medium polypeptide (NF-M) is a protein that in humans is encoded by the NEFM gene. Neurofilaments are type IV intermediate filament heteropolymers composed of light (NEFL), medium (this protein), and heavy (NEFH) chains. Neurofilaments comprise the exoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage.

Neurofilaments are crucial components of neurons, playing a key role in maintaining the size and shape of nerve cells. They are composed of three main proteins: NEFL, NEFM, and NEFH. NEFM, along with the other two proteins, contributes to the structural integrity of neurons. Additionally, NEFM can collaborate with other neuronal proteins like PRPH and INA to form complex, interconnected networks within neurons.

NEFM is also known as NEF3, NF-M, NFM.

Associated Diseases

• amyotrophic lateral sclerosis
• hereditary neuropathy with liability to pressure palsies
• amyotrophic lateral sclerosis type 4
• small cell osteogenic sarcoma
• amyotrophic lateral sclerosis type 11
• Charcot-Marie-Tooth disease type 1A
• neurodegenerative syndrome due to cerebral folate transport deficiency