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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.
Read more about gene names and symbols on the About page.
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?
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) (
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?
See How are genetic conditions and genes named? in the Handbook.
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 NEFH?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 links)
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.