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NEB gene

nebulin
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Normal Function

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.

Health Conditions Related to Genetic Changes

Nemaline myopathy

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.

More About This Health Condition

Other Names for This Gene

  • NEBU_HUMAN
  • NEM2

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

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. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
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