hyperpolarization activated cyclic nucleotide gated potassium channel 4
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L HCN4 gene provides instructions for making a channel that transports positively charged atoms (ions) into heart muscle cells. This channel is located primarily in the sino-atrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The HCN4 channel allows potassium and sodium ions to flow into cells of the SA node. This ion flow is often called the "pacemaker current" because it generates electrical impulses that start each heartbeat and is involved in maintaining a regular heart rhythm.
Normal function
L HCN4 gene provides instructions for making a channel that transports positively charged atoms (ions) into heart muscle cells. This channel is located primarily in the sino-atrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The HCN4 channel allows potassium and sodium ions to flow into cells of the SA node. This ion flow is often called the "pacemaker current" because it generates electrical impulses that start each heartbeat and is involved in maintaining a regular heart rhythm.
Conditions referring to this gene or chromosome
Altri nomi
HCN4_HUMAN
hyperpolarization activated cyclic nucleotide-gated cation channel 4
hyperpolarization activated cyclic nucleotide-gated potassium channel 4
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4
SSS2
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Ulteriori letture e riferimenti
- hyperpolarization activated cyclic nucleotide gated potassium channel 4; MedlinePlus, National Library of Medicine.
- Baruscotti M, Bottelli G, Milanesi R, DiFrancesco JC, DiFrancesco D. HCN-related channelopathies. Pflugers Arch. 2010 Jul;460(2):405-15. doi: 10.1007/s00424-010-0810-8. Epub 2010 Mar 8.
- Milanesi R, Baruscotti M, Gnecchi-Ruscone T, DiFrancesco D. Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel. N Engl J Med. 2006 Jan 12;354(2):151-7. doi: 10.1056/NEJMoa052475.
- Netter MF, Zuzarte M, Schlichthorl G, Klocker N, Decher N. The HCN4 channel mutation D553N associated with bradycardia has a C-linker mediated gating defect. Cell Physiol Biochem. 2012;30(5):1227-40. doi: 10.1159/000343314. Epub 2012 Oct 15.
- Nof E, Luria D, Brass D, Marek D, Lahat H, Reznik-Wolf H, Pras E, Dascal N, Eldar M, Glikson M. Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardia. Circulation. 2007 Jul 31;116(5):463-70. doi: 10.1161/CIRCULATIONAHA.107.706887. Epub 2007 Jul 23.
- Ueda K, Hirano Y, Higashiuesato Y, Aizawa Y, Hayashi T, Inagaki N, Tana T, Ohya Y, Takishita S, Muratani H, Hiraoka M, Kimura A. Role of HCN4 channel in preventing ventricular arrhythmia. J Hum Genet. 2009 Feb;54(2):115-21. doi: 10.1038/jhg.2008.16. Epub 2009 Jan 23.
- Ueda K, Nakamura K, Hayashi T, Inagaki N, Takahashi M, Arimura T, Morita H, Higashiuesato Y, Hirano Y, Yasunami M, Takishita S, Yamashina A, Ohe T, Sunamori M, Hiraoka M, Kimura A. Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. J Biol Chem. 2004 Jun 25;279(26):27194-8. doi: 10.1074/jbc.M311953200. Epub 2004 Apr 30.
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