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Genetics Home Reference: your guide to understanding genetic conditions
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NEFM

Reviewed November 2004

What is the official name of the NEFM gene?

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

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

What is the normal function of the NEFM gene?

The NEFM gene provides the instructions to make the medium component (subunit) of neurofilaments. Neurofilaments, which are assembled from light, medium, and heavy subunits, are essential for normal nerve function. 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 conduction of nerve impulses.

Where is the NEFM gene located?

Cytogenetic Location: 8p21

Molecular Location on chromosome 8: base pairs 24,771,273 to 24,776,605

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

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

More precisely, the NEFM gene is located from base pair 24,771,273 to base pair 24,776,605 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 NEFM?

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

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((NEF3%5BTIAB%5D)%20OR%20(neurofilament%203%5BTIAB%5D))%20OR%20((NEFM%5BTIAB%5D)%20OR%20(neurofilament%20triplet%20M%20protein%5BTIAB%5D)%20OR%20(NF-M%5BTIAB%5D)%20OR%20(NFM%5BTIAB%5D)%20OR%20(neurofilament%20medium%20polypeptide%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%202880%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/162250)

  • Research Resources - Tools for researchers

    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/4741)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=4741)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=7734)

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

  • NEF3
  • neurofilament medium polypeptide
  • neurofilament, medium polypeptide 150kDa
  • neurofilament triplet M protein
  • NFM
  • NF-M
  • NFM_HUMAN

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 NEFM?

cell ; diameter ; gene ; nerve cell ; neurofilament ; protein ; 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

  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/4741)
  • Julien JP, Mushynski WE. Neurofilaments in health and disease. Prog Nucleic Acid Res Mol Biol. 1998;61:1-23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/9752717?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)
  • OMIM: NEUROFILAMENT 3 (http://omim.org/entry/162250)

 

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: November 2004
Published: May 20, 2013