selenoprotein N
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L SELENON gene (also called SEPN1) provides instructions for making a protein called selenoprotein N. 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. Although the exact function of selenoprotein N is unknown, it 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.
Normal function
L SELENON gene (also called SEPN1) provides instructions for making a protein called selenoprotein N. 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. Although the exact function of selenoprotein N is unknown, it 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.
Selenoprotein N is highly active in many tissues before birth and may be involved in the formation of muscle tissue (myogenesis). The protein may also be important for normal muscle function after birth, although it is active at much lower levels in adult tissues. This protein is thought to play a role in maintaining an appropriate balance of calcium (calcium homeostasis) in cells. Calcium plays an important role in muscle movement.
Conditions referring to this gene or chromosome
Altri nomi
selenoprotein N, 1
SELN
SEPN1
SEPN1_HUMAN
Ulteriori letture e riferimenti
- selenoprotein N; MedlinePlus, National Library of Medicine.
- 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.
- Ardissone A, Bragato C, Blasevich F, Maccagnano E, Salerno F, Gandioli C, Morandi L, Mora M, Moroni I. SEPN1-related myopathy in three patients: novel mutations and diagnostic clues. Eur J Pediatr. 2016 Aug;175(8):1113-8. doi: 10.1007/s00431-015-2685-3. Epub 2016 Jan 16.
- Castets P, Bertrand AT, Beuvin M, Ferry A, Le Grand F, Castets M, Chazot G, Rederstorff M, Krol A, Lescure A, Romero NB, Guicheney P, Allamand V. Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. Hum Mol Genet. 2011 Feb 15;20(4):694-704. doi: 10.1093/hmg/ddq515. Epub 2010 Dec 2.
- Castets P, Lescure A, Guicheney P, Allamand V. Selenoprotein N in skeletal muscle: from diseases to function. J Mol Med (Berl). 2012 Oct;90(10):1095-107. doi: 10.1007/s00109-012-0896-x. Epub 2012 Apr 14.
- 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. doi: 10.1002/ana.20761.
- Ferreiro A, Ceuterick-de Groote C, Marks JJ, Goemans N, Schreiber G, Hanefeld F, Fardeau M, Martin JJ, Goebel HH, Richard P, Guicheney P, Bonnemann 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. doi: 10.1002/ana.20077.
- Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bonnemann 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. doi: 10.1086/342719. Epub 2002 Aug 21.
- Jungbluth H. Multi-minicore Disease. Orphanet J Rare Dis. 2007 Jul 13;2:31. doi: 10.1186/1750-1172-2-31.
- Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano Roy S, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet. 2001 Sep;29(1):17-8. doi: 10.1038/ng713.
- 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. doi: 10.1007/s10048-006-0046-0. Epub 2006 Jun 15.
- 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. doi: 10.1093/hmg/ddg115.
- Schara U, Kress W, Bonnemann 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. doi: 10.1016/j.ejpn.2007.08.011. Epub 2007 Oct 22.
- 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. doi: 10.1080/15216540601187803.
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