Reviewed April 2007
What is the official name of the NEFL gene?
The official name of this gene is “neurofilament, light polypeptide 68kDa.”
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. 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 transmission of nerve impulses.
How are changes in the NEFL gene related to health conditions?
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Charcot-Marie-Tooth disease - caused by mutations in the NEFL gene
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Researchers have identified more than 10 NEFL mutations that cause forms of Charcot-Marie-Tooth disease known as type 1F and type 2E. Most NEFL mutations replace one of the protein building blocks (amino acids) in the neurofilament light subunit with an incorrect amino acid. Some mutations delete or duplicate part of the NEFL gene, which alters the instructions for making the neurofilament light subunit. NEFL 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. Axonal abnormalities are a sign of type 2E Charcot-Marie-Tooth disease. In some cases, the speed of nerve transmission is reduced, which is a sign of type 1F Charcot-Marie-Tooth disease.
Where is the NEFL gene located?
Cytogenetic Location: 8p21
Molecular Location on chromosome 8: base pairs 24,866,239 to 24,869,945
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 24,866,239 to base pair 24,869,945 on chromosome 8.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about NEFL?
You and your healthcare professional may find the following resources about NEFL helpful.
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Gene Tests - DNA tests ordered by healthcare professionals (2 links)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature
- OMIM - Genetic disorder catalog
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What other names do people use for the NEFL gene or gene products?
- neurofilament triplet L protein
- NF68
- NFL
- NFL_HUMAN
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding NEFL?
acids ;
amino acid ;
axons ;
cell ;
diameter ;
gene ;
intermediate filaments ;
mutation ;
nerve cell ;
neurofilament ;
polypeptides ;
protein ;
sign ;
subunit
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary.
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.