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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed August 2012

What is the official name of the NEFH gene?

The official name of this gene is “neurofilament, heavy polypeptide.”

NEFH is the gene's official symbol. The NEFH gene is also known by other names, listed below.

What is the normal function of the NEFH gene?

The NEFH gene provides instructions for making a protein component (subunit) of neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of nerve cells (neurons). Neurofilaments are assembled from light, medium, and heavy subunits. The heavy subunit is produced from the NEFH gene.

Neurofilaments cross-link with one other, forming bridges that help maintain the diameter of the fiber, or axon, that extends from a neuron. Maintaining a proper axon diameter is important for the transmission of nerve impulses. Neurofilaments are particularly abundant in motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement.

The heavy subunit is made up of three regions: the head, which regulates assembly of neurofilaments; a coiled midsection; and a tail with branches that interact with other proteins (including other neurofilaments). The tail region has a segment called the KSP motif that plays an important role in regulating the functions of neurofilaments.

How are changes in the NEFH gene related to health conditions?

amyotrophic lateral sclerosis - increased risk from variations of the NEFH gene

Mutations in the NEFH gene increase the chances of developing amyotrophic lateral sclerosis (ALS), a condition characterized by progressive movement problems and muscle wasting. Most of these mutations delete or insert DNA building blocks (nucleotides) in the NEFH gene, which produces a KSP motif that is shorter or longer than normal. The abnormal KSP motif may disrupt cross-linking between neurofilaments. One NEFH gene mutation that can lead to ALS changes a single protein building block (amino acid) used to make the heavy subunit. The effect of this mutation is unknown, but it may impair the assembly of neurofilaments.

It is not known how NEFH gene mutations raise the risk of developing ALS. Disrupted cross-linking or impaired assembly of neurofilaments may lead to the accumulation of these filaments in motor neurons. A buildup of neurofilaments in deteriorating motor neurons appears to be an early feature of ALS. It is unclear, however, whether these deposits play a role in causing this disorder or are a byproduct of dying motor neurons.

Where is the NEFH gene located?

Cytogenetic Location: 22q12.2

Molecular Location on chromosome 22: base pairs 29,480,192 to 29,491,290

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The NEFH gene is located on the long (q) arm of chromosome 22 at position 12.2.

The NEFH gene is located on the long (q) arm of chromosome 22 at position 12.2.

More precisely, the NEFH gene is located from base pair 29,480,192 to base pair 29,491,290 on chromosome 22.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about NEFH?

You and your healthcare professional may find the following resources about NEFH helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the NEFH gene or gene products?

  • neurofilament, heavy polypeptide 200kDa
  • neurofilament triplet H protein
  • NFH

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding NEFH?

amino acid ; cross-link ; diameter ; DNA ; gene ; motif ; motor ; mutation ; neurofilament ; neuron ; protein ; sclerosis ; subunit ; wasting

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Al-Chalabi A, Andersen PM, Nilsson P, Chioza B, Andersson JL, Russ C, Shaw CE, Powell JF, Leigh PN. Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet. 1999 Feb;8(2):157-64. (
  • Al-Chalabi A, Miller CC. Neurofilaments and neurological disease. Bioessays. 2003 Apr;25(4):346-55. Review. (
  • Kunst CB. Complex genetics of amyotrophic lateral sclerosis. Am J Hum Genet. 2004 Dec;75(6):933-47. Epub 2004 Oct 11. Review. (
  • Lariviere RC, Julien JP. Functions of intermediate filaments in neuronal development and disease. J Neurobiol. 2004 Jan;58(1):131-48. Review. (
  • Mendonça DM, Chimelli L, Martinez AM. Quantitative evidence for neurofilament heavy subunit aggregation in motor neurons of spinal cords of patients with amyotrophic lateral sclerosis. Braz J Med Biol Res. 2005 Jun;38(6):925-33. Epub 2005 Jun 1. (
  • NCBI Gene (
  • Omary MB, Coulombe PA, McLean WH. Intermediate filament proteins and their associated diseases. N Engl J Med. 2004 Nov 11;351(20):2087-100. Review. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: August 2012
Published: February 1, 2016