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Genetics Home Reference: your guide to understanding genetic conditions
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NEB

Reviewed May 2010

What is the official name of the NEB gene?

The official name of this gene is “nebulin.”

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

What is the normal function of the NEB gene?

The NEB gene provides instructions for making a protein called nebulin. This protein plays an important role in skeletal muscles, which are muscles used for movement. Within skeletal muscle cells, nebulin is found in structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). Nebulin is one of several proteins that interact to generate the mechanical force needed for muscle contraction.

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

nemaline myopathy - caused by mutations in the NEB gene

More than 60 mutations in the NEB gene have been found to cause nemaline myopathy. Some of these mutations change single protein building blocks (amino acids) in the nebulin protein or result in the production of an abnormally short protein. Other mutations insert or delete genetic material in the NEB gene. Most NEB gene mutations alter the structure or reduce the production of nebulin. A lack of functional nebulin impairs the muscle cells' ability to contract. Inefficient muscle contraction leads to muscle weakness and the other features of nemaline myopathy.

Where is the NEB gene located?

Cytogenetic Location: 2q22

Molecular Location on chromosome 2: base pairs 151,485,338 to 151,734,486

The NEB gene is located on the long (q) arm of chromosome 2 at position 22.

The NEB gene is located on the long (q) arm of chromosome 2 at position 22.

More precisely, the NEB gene is located from base pair 151,485,338 to base pair 151,734,486 on chromosome 2.

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 NEB?

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

  • NEBU_HUMAN
  • NEM2

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 NEB?

acids ; contraction ; gene ; muscle cells ; protein ; skeletal muscle

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

References

  • Lehtokari VL, Pelin K, Sandbacka M, Ranta S, Donner K, Muntoni F, Sewry C, Angelini C, Bushby K, Van den Bergh P, Iannaccone S, Laing NG, Wallgren-Pettersson C. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat. 2006 Sep;27(9):946-56. (http://www.ncbi.nlm.nih.gov/pubmed/16917880?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4703)
  • Ottenheijm CA, Hooijman P, DeChene ET, Stienen GJ, Beggs AH, Granzier H. Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). J Struct Biol. 2010 May;170(2):334-43. doi: 10.1016/j.jsb.2009.11.013. Epub 2009 Nov 26. (http://www.ncbi.nlm.nih.gov/pubmed/19944167?dopt=Abstract)
  • Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, Laing NG, Beggs AH, North KN. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol. 2001 Sep;50(3):312-20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11558787?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: May 2010
Published: November 17, 2014