potassium voltage-gated channel subfamily Q member 1
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L KCNQ1 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium out of cells, play key roles in a cell's ability to generate and transmit electrical signals.
Normal function
L KCNQ1 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium out of cells, play key roles in a cell's ability to generate and transmit electrical signals.
The specific function of a potassium channel depends on its protein components and its location in the body. Channels made with KCNQ1 proteins are primarily found in the inner ear and in heart (cardiac) muscle. In the inner ear, these channels help maintain the proper ion balance needed for normal hearing. In the heart, the channels are involved in recharging the cardiac muscle after each heartbeat to maintain a regular rhythm. The KCNQ1 protein is also produced in the kidney, lung, stomach, and intestine.
The KCNQ1 protein interacts with proteins in the KCNE family (such as the KCNE1 protein) to form functional potassium channels. Four alpha subunits made from KCNQ1 proteins form the structure of each channel. One beta subunit, made from a KCNE protein, attaches (binds) to the channel and regulates its activity.
Conditions referring to this gene or chromosome
Altri nomi
ATFB1
IKs producing slow voltage-gated potassium channel alpha subunit KvLQT1
JLNS1
KCNA8
KCNA9
KCNQ1_HUMAN
KQT-like 1
Kv1.9
Kv7.1
KVLQT1
LQT1
potassium channel, voltage gated KQT-like subfamily Q, member 1
potassium voltage-gated channel, KQT-like subfamily, member 1
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Ulteriori letture e riferimenti
- potassium voltage-gated channel subfamily Q member 1; MedlinePlus, National Library of Medicine.
- Arnestad M, Crotti L, Rognum TO, Insolia R, Pedrazzini M, Ferrandi C, Vege A, Wang DW, Rhodes TE, George AL Jr, Schwartz PJ. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 Jan 23;115(3):361-7. doi: 10.1161/CIRCULATIONAHA.106.658021. Epub 2007 Jan 8.
- Bellocq C, van Ginneken AC, Bezzina CR, Alders M, Escande D, Mannens MM, Baro I, Wilde AA. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation. 2004 May 25;109(20):2394-7. doi: 10.1161/01.CIR.0000130409.72142.FE.
- Chan PJ, Osteen JD, Xiong D, Bohnen MS, Doshi D, Sampson KJ, Marx SO, Karlin A, Kass RS. Characterization of KCNQ1 atrial fibrillation mutations reveals distinct dependence on KCNE1. J Gen Physiol. 2012 Feb;139(2):135-44. doi: 10.1085/jgp.201110672. Epub 2012 Jan 16.
- Ellinor PT, Moore RK, Patton KK, Ruskin JN, Pollak MR, Macrae CA. Mutations in the long QT gene, KCNQ1, are an uncommon cause of atrial fibrillation. Heart. 2004 Dec;90(12):1487-8. doi: 10.1136/hrt.2003.027227. No abstract available.
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- Groffen AJ, Bikker H, Christiaans I. Long QT Syndrome Overview. 2003 Feb 20 [updated 2024 Mar 21]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1129/
- Herbert E, Trusz-Gluza M, Moric E, Smilowska-Dzielicka E, Mazurek U, Wilczok T. KCNQ1 gene mutations and the respective genotype-phenotype correlations in the long QT syndrome. Med Sci Monit. 2002 Oct;8(10):RA240-8.
- Hong K, Piper DR, Diaz-Valdecantos A, Brugada J, Oliva A, Burashnikov E, Santos-de-Soto J, Grueso-Montero J, Diaz-Enfante E, Brugada P, Sachse F, Sanguinetti MC, Brugada R. De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero. Cardiovasc Res. 2005 Dec 1;68(3):433-40. doi: 10.1016/j.cardiores.2005.06.023. Epub 2005 Aug 18.
- Huang L, Bitner-Glindzicz M, Tranebjaerg L, Tinker A. A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. Cardiovasc Res. 2001 Sep;51(4):670-80. doi: 10.1016/s0008-6363(01)00350-9.
- Ioakeimidis NS, Papamitsou T, Meditskou S, Iakovidou-Kritsi Z. Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence. J Biol Res (Thessalon). 2017 Mar 14;24:6. doi: 10.1186/s40709-017-0063-1. eCollection 2017 Dec.
- Jespersen T, Grunnet M, Olesen SP. The KCNQ1 potassium channel: from gene to physiological function. Physiology (Bethesda). 2005 Dec;20:408-16. doi: 10.1152/physiol.00031.2005.
- Melman YF, Um SY, Krumerman A, Kagan A, McDonald TV. KCNE1 binds to the KCNQ1 pore to regulate potassium channel activity. Neuron. 2004 Jun 24;42(6):927-37. doi: 10.1016/j.neuron.2004.06.001.
- Park KH, Piron J, Dahimene S, Merot J, Baro I, Escande D, Loussouarn G. Impaired KCNQ1-KCNE1 and phosphatidylinositol-4,5-bisphosphate interaction underlies the long QT syndrome. Circ Res. 2005 Apr 15;96(7):730-9. doi: 10.1161/01.RES.0000161451.04649.a8. Epub 2005 Mar 3.
- 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.
- Tristani-Firouzi M, Sanguinetti MC. Structural determinants and biophysical properties of HERG and KCNQ1 channel gating. J Mol Cell Cardiol. 2003 Jan;35(1):27-35. doi: 10.1016/s0022-2828(02)00286-9.
- Wang Z, Li H, Moss AJ, Robinson J, Zareba W, Knilans T, Bowles NE, Towbin JA. Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. Mol Genet Metab. 2002 Apr;75(4):308-16. doi: 10.1016/S1096-7192(02)00007-0.
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