sodium voltage-gated channel alpha subunit 5
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L 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
L 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
Altri nomi
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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Ulteriori letture e riferimenti
- sodium voltage-gated channel alpha subunit 5; MedlinePlus, National Library of Medicine.
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- 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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