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Genetics Home Reference: your guide to understanding genetic conditions
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NEFL

Reviewed January 2010

What is the official name of the NEFL gene?

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

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

What is the normal function of the NEFL gene?

The NEFL gene provides instructions for making the smallest protein component (the light subunit) of neurofilaments, which are essential for normal nerve cell function. Neurofilaments are assembled from light, medium, and heavy subunits. They form a structural framework that helps to define the shape and size of nerve cells. Cross-linking or bridging between neurofilaments maintains the diameter of the fiber, or axon, that extends from a nerve cell. Maintaining the proper axon diameter is essential for the transmission of nerve impulses.

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

Charcot-Marie-Tooth disease - caused by mutations in the NEFL gene

Researchers have identified more than 10 NEFL gene mutations that cause two forms of Charcot-Marie-Tooth disease known as type 1F and type 2E. Most NEFL gene mutations change single protein building blocks (amino acids) in the neurofilament light subunit. Other mutations delete or duplicate part of the NEFL gene, which alters the instructions for making the neurofilament light subunit. NEFL gene mutations probably alter the size or shape of neurofilament light subunits.

Altered neurofilament light subunits likely disrupt the assembly of neurofilaments or their transport to the axon. These disruptions may cause abnormalities in axons and impair the transmission of nerve impulses. Abnormalities in axons are a sign of type 2E Charcot-Marie-Tooth disease. In some cases, a reduced axon diameter may result in decreased nerve signal transmission speed, which is characteristic of type 1F Charcot-Marie-Tooth disease.

Where is the NEFL gene located?

Cytogenetic Location: 8p21

Molecular Location on chromosome 8: base pairs 24,950,954 to 24,956,868

The NEFL gene is located on the short (p) arm of chromosome 8 at position 21.

The NEFL gene is located on the short (p) arm of chromosome 8 at position 21.

More precisely, the NEFL gene is located from base pair 24,950,954 to base pair 24,956,868 on chromosome 8.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about NEFL?

You and your healthcare professional may find the following resources about NEFL 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 NEFL gene or gene products?

  • CMT1F
  • CMT2E
  • neurofilament, light polypeptide 68kDa
  • neurofilament triplet L protein
  • NF68
  • NFL
  • NFL_HUMAN
  • PPP1R110

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding NEFL?

acids ; axons ; cell ; diameter ; gene ; nerve cell ; neurofilament ; protein ; sign ; subunit

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Fabrizi GM, Cavallaro T, Angiari C, Cabrini I, Taioli F, Malerba G, Bertolasi L, Rizzuto N. Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. Brain. 2007 Feb;130(Pt 2):394-403. Epub 2006 Oct 18. (http://www.ncbi.nlm.nih.gov/pubmed/17052987?dopt=Abstract)
  • Gene Review: Charcot-Marie-Tooth Neuropathy Type 1 (http://www.ncbi.nlm.nih.gov/books/NBK1205)
  • Gene Review: Charcot-Marie-Tooth Neuropathy Type 2 (http://www.ncbi.nlm.nih.gov/books/NBK1285)
  • Gene Review: Charcot-Marie-Tooth Neuropathy Type 2E/1F (http://www.ncbi.nlm.nih.gov/books/NBK1187)
  • Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain. 2003 Mar;126(Pt 3):590-7. (http://www.ncbi.nlm.nih.gov/pubmed/12566280?dopt=Abstract)
  • Leung CL, Nagan N, Graham TH, Liem RK. A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease. Am J Med Genet A. 2006 May 1;140(9):1021-5. (http://www.ncbi.nlm.nih.gov/pubmed/16619203?dopt=Abstract)
  • Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet. 2000 Jul;67(1):37-46. Epub 2000 Jun 7. (http://www.ncbi.nlm.nih.gov/pubmed/10841809?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4747)
  • Niemann A, Berger P, Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):217-42. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16775378?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15537907?dopt=Abstract)
  • Pérez-Ollé R, López-Toledano MA, Goryunov D, Cabrera-Poch N, Stefanis L, Brown K, Liem RK. Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport. J Neurochem. 2005 May;93(4):861-74. (http://www.ncbi.nlm.nih.gov/pubmed/15857389?dopt=Abstract)
  • Shin JS, Chung KW, Cho SY, Yun J, Hwang SJ, Kang SH, Cho EM, Kim SM, Choi BO. NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1. J Hum Genet. 2008;53(10):936-40. doi: 10.1007/s10038-008-0333-8. Epub 2008 Aug 29. (http://www.ncbi.nlm.nih.gov/pubmed/18758688?dopt=Abstract)
  • Young P, Suter U. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14685682?dopt=Abstract)
  • Zhai J, Lin H, Julien JP, Schlaepfer WW. Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1. Hum Mol Genet. 2007 Dec 15;16(24):3103-16. Epub 2007 Sep 19. (http://www.ncbi.nlm.nih.gov/pubmed/17881652?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2010
Published: December 22, 2014