Reviewed November 2004
What is the official name of the NEFM gene?
The official name of this gene is “neurofilament, medium polypeptide 150kDa.”
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 24,827,211 to 24,832,510
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 24,827,211 to base pair 24,832,510 on chromosome 8.
See How do geneticists indicate the location of a gene? 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
- OMIM - Genetic disorder catalog
-
What other names do people use for the NEFM gene or gene products?
- NEF3
- neurofilament medium polypeptide
- neurofilament triplet M protein
- NFM
- NF-M
- NFM_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 NEFM?
axons ;
cell ;
diameter ;
gene ;
intermediate filaments ;
nerve cell ;
neurofilament ;
polypeptides ;
protein ;
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.
