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Genetics Home Reference: your guide to understanding genetic conditions
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SEPN1

Reviewed July 2010

What is the official name of the SEPN1 gene?

The official name of this gene is “selenoprotein N, 1.”

SEPN1 is the gene's official symbol. The SEPN1 gene is also known by other names, listed below.

What is the normal function of the SEPN1 gene?

The SEPN1 gene provides instructions for making a protein called selenoprotein N, 1. This protein is part of a family of selenoproteins, which have several critical functions within the body. Selenoproteins are primarily involved in chemical reactions called oxidation-reduction reactions, which are essential for protecting cells from damage caused by unstable oxygen-containing molecules. Selenoprotein N, 1 is likely involved in protecting cells against oxidative stress. Oxidative stress occurs when unstable molecules called free radicals accumulate to levels that damage or kill cells.

The exact function of selenoprotein N, 1 is unknown. This protein is highly active in many tissues before birth and may be involved in the formation of muscle tissue (myogenesis). Selenoprotein N, 1 may also be important for normal muscle function after birth, although it is active at much lower levels in adult tissues. This protein contains a region that likely allows it to bind to calcium. This region is of interest because calcium plays an important role in triggering muscle contractions, which allow the body to move.

Does the SEPN1 gene share characteristics with other genes?

The SEPN1 gene belongs to a family of genes called EF-hand domain containing (EF-hand domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the SEPN1 gene related to health conditions?

congenital fiber-type disproportion - caused by mutations in the SEPN1 gene

At least one mutation in the SEPN1 gene has been found to cause congenital fiber-type disproportion. This mutation replaces the protein building block (amino acid) glycine with the amino acid serine at position 315 in selenoprotein N, 1 (written as Gly315Ser or G315S). It is unclear how this mutation causes muscle weakness and the other features of congenital fiber-type disproportion.

multiminicore disease - caused by mutations in the SEPN1 gene

At least 17 mutations in the SEPN1 gene have been identified in people with the classic form of multiminicore disease. Many of these genetic changes lead to the production of an abnormally short version of selenoprotein N, 1. Other mutations change single protein building blocks (amino acids) in critical regions of the protein. The effects of changes in the structure and function of selenoprotein N, 1 are unknown, and researchers are working to determine how these changes lead to muscle weakness and the other characteristic features of multiminicore disease.

other disorders - caused by mutations in the SEPN1 gene

Mutations in the SEPN1 gene are responsible for several other rare muscle disorders, including rigid spine muscular dystrophy and desmin-related myopathy with Mallory body-like inclusions. These conditions cause muscle weakness, particularly in the muscles of the trunk and neck. Affected individuals also have decreased muscle tone (hypotonia), abnormal curvature of the spine (scoliosis), and serious breathing problems. Because they have a similar pattern of signs and symptoms and are caused by mutations in the same gene, many researchers believe that these conditions are all part of a single syndrome with variable signs and symptoms. Together, muscle diseases caused by SEPN1 gene mutations are known as SEPN1-related myopathy.

Where is the SEPN1 gene located?

Cytogenetic Location: 1p36.13

Molecular Location on chromosome 1: base pairs 25,800,175 to 25,818,221

The SEPN1 gene is located on the short (p) arm of chromosome 1 at position 36.13.

The SEPN1 gene is located on the short (p) arm of chromosome 1 at position 36.13.

More precisely, the SEPN1 gene is located from base pair 25,800,175 to base pair 25,818,221 on chromosome 1.

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 SEPN1?

You and your healthcare professional may find the following resources about SEPN1 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 SEPN1 gene or gene products?

  • SELN
  • SEPN1_HUMAN

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 SEPN1?

acids ; amino acid ; calcium ; congenital ; decreased muscle tone ; free radicals ; gene ; glycine ; hypotonia ; Mb ; muscle tone ; muscular dystrophy ; mutation ; oxidation ; oxidative stress ; oxygen ; protein ; scoliosis ; serine ; stress ; syndrome ; tissue

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

References

  • Arbogast S, Beuvin M, Fraysse B, Zhou H, Muntoni F, Ferreiro A. Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. Ann Neurol. 2009 Jun;65(6):677-86. doi: 10.1002/ana.21644. (http://www.ncbi.nlm.nih.gov/pubmed/19557870?dopt=Abstract)
  • Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol. 2006 Mar;59(3):546-52. (http://www.ncbi.nlm.nih.gov/pubmed/16365872?dopt=Abstract)
  • Ferreiro A, Ceuterick-de Groote C, Marks JJ, Goemans N, Schreiber G, Hanefeld F, Fardeau M, Martin JJ, Goebel HH, Richard P, Guicheney P, Bönnemann CG. Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ann Neurol. 2004 May;55(5):676-86. (http://www.ncbi.nlm.nih.gov/pubmed/15122708?dopt=Abstract)
  • Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet. 2002 Oct;71(4):739-49. Epub 2002 Aug 21. (http://www.ncbi.nlm.nih.gov/pubmed/12192640?dopt=Abstract)
  • Gene Review: Congenital Fiber-Type Disproportion (http://www.ncbi.nlm.nih.gov/books/NBK1259/)
  • Gene Review: Multiminicore Disease (http://www.ncbi.nlm.nih.gov/books/NBK1290/)
  • Jungbluth H. Multi-minicore Disease. Orphanet J Rare Dis. 2007 Jul 13;2:31. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17631035?dopt=Abstract)
  • Lescure A, Rederstorff M, Krol A, Guicheney P, Allamand V. Selenoprotein function and muscle disease. Biochim Biophys Acta. 2009 Nov;1790(11):1569-74. doi: 10.1016/j.bbagen.2009.03.002. Epub 2009 Mar 11. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19285112?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/57190)
  • Okamoto Y, Takashima H, Higuchi I, Matsuyama W, Suehara M, Nishihira Y, Hashiguchi A, Hirano R, Ng AR, Nakagawa M, Izumo S, Osame M, Arimura K. Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. Neurogenetics. 2006 Jul;7(3):175-83. Epub 2006 Jun 15. (http://www.ncbi.nlm.nih.gov/pubmed/16779558?dopt=Abstract)
  • Petit N, Lescure A, Rederstorff M, Krol A, Moghadaszadeh B, Wewer UM, Guicheney P. Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. Hum Mol Genet. 2003 May 1;12(9):1045-53. (http://www.ncbi.nlm.nih.gov/pubmed/12700173?dopt=Abstract)
  • Schara U, Kress W, Bönnemann CG, Breitbach-Faller N, Korenke CG, Schreiber G, Stoetter M, Ferreiro A, von der Hagen M. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol. 2008 May;12(3):224-30. Epub 2007 Oct 22. (http://www.ncbi.nlm.nih.gov/pubmed/17951086?dopt=Abstract)
  • Zorzato F, Jungbluth H, Zhou H, Muntoni F, Treves S. Functional effects of mutations identified in patients with multiminicore disease. IUBMB Life. 2007 Jan;59(1):14-20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17365175?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: July 2010
Published: July 21, 2014