sodium voltage-gated channel alpha subunit 5
Última actualización 18 Aug 2020
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El SCN5A gene belongs to a family of genes that provide instructions for making sodium channels. These channels open and close at specific times to control the flow of positively charged sodium atoms (sodium ions) into cells. The sodium channels containing proteins produced from the SCN5A gene are abundant in heart (cardiac) muscle cells and play key roles in these cells' ability to generate and transmit electrical signals. These channels play a major role in signaling the start of each heartbeat, coordinating the contractions of the upper and lower chambers of the heart, and maintaining a normal heart rhythm.
Normal function
El SCN5A gene belongs to a family of genes that provide instructions for making sodium channels. These channels open and close at specific times to control the flow of positively charged sodium atoms (sodium ions) into cells. The sodium channels containing proteins produced from the SCN5A gene are abundant in heart (cardiac) muscle cells and play key roles in these cells' ability to generate and transmit electrical signals. These channels play a major role in signaling the start of each heartbeat, coordinating the contractions of the upper and lower chambers of the heart, and maintaining a normal heart rhythm.
Conditions referring to this gene or chromosome
Otros nombres
HH1
LQT3
Nav1.5
SCN5A_HUMAN
Sodium channel protein, cardiac muscle alpha-subunit
sodium channel, voltage gated, type V alpha subunit
sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)
sodium channel, voltage-gated, type V, alpha subunit
SSS1
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Lecturas adicionales y referencias
- sodium voltage-gated channel alpha subunit 5; MedlinePlus, National Library of Medicine.
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- Herfst LJ, Rook MB, Jongsma HJ. Trafficking and functional expression of cardiac Na+ channels. J Mol Cell Cardiol. 2004 Feb;36(2):185-93. doi: 10.1016/j.yjmcc.2003.11.014.
- Juang JM, Huang SK. Brugada syndrome--an under-recognized electrical disease in patients with sudden cardiac death. Cardiology. 2004;101(4):157-69. doi: 10.1159/000076693. Epub 2004 Feb 12.
- Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, Zumhagen S, Vatta M, Towbin JA, Shimizu W, Schulze-Bahr E, Antzelevitch C, Salisbury BA, Guicheney P, Wilde AA, Brugada R, Schott JJ, Ackerman MJ. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 Jan;7(1):33-46. doi: 10.1016/j.hrthm.2009.09.069. Epub 2009 Oct 8.
- Lei M, Huang CL, Zhang Y. Genetic Na+ channelopathies and sinus node dysfunction. Prog Biophys Mol Biol. 2008 Oct-Nov;98(2-3):171-8. doi: 10.1016/j.pbiomolbio.2008.10.003. Epub 2008 Nov 5.
- Paulussen AD, Gilissen RA, Armstrong M, Doevendans PA, Verhasselt P, Smeets HJ, Schulze-Bahr E, Haverkamp W, Breithardt G, Cohen N, Aerssens J. Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 Mar;82(3):182-8. doi: 10.1007/s00109-003-0522-z. Epub 2004 Feb 4.
- Plant LD, Bowers PN, Liu Q, Morgan T, Zhang T, State MW, Chen W, Kittles RA, Goldstein SA. A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest. 2006 Feb;116(2):430-5. doi: 10.1172/JCI25618.
- Shimizu W, Aiba T, Kamakura S. Mechanisms of disease: current understanding and future challenges in Brugada syndrome. Nat Clin Pract Cardiovasc Med. 2005 Aug;2(8):408-14. doi: 10.1038/ncpcardio0268.
- Vatta M, Dumaine R, Varghese G, Richard TA, Shimizu W, Aihara N, Nademanee K, Brugada R, Brugada J, Veerakul G, Li H, Bowles NE, Brugada P, Antzelevitch C, Towbin JA. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet. 2002 Feb 1;11(3):337-45. doi: 10.1093/hmg/11.3.337.
- Veerman CC, Wilde AA, Lodder EM. The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology. Gene. 2015 Dec 1;573(2):177-87. doi: 10.1016/j.gene.2015.08.062. Epub 2015 Sep 8.
- Yang P, Kanki H, Drolet B, Yang T, Wei J, Viswanathan PC, Hohnloser SH, Shimizu W, Schwartz PJ, Stanton M, Murray KT, Norris K, George AL Jr, Roden DM. Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation. 2002 Apr 23;105(16):1943-8. doi: 10.1161/01.cir.0000014448.19052.4c.
- Zaklyazminskaya E, Dzemeshkevich S. The role of mutations in the SCN5A gene in cardiomyopathies. Biochim Biophys Acta. 2016 Jul;1863(7 Pt B):1799-805. doi: 10.1016/j.bbamcr.2016.02.014. Epub 2016 Feb 23.
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