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Liu, D. KCNH2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4282 (accessed on 28 September 2026).
Liu D. KCNH2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4282. Accessed September 28, 2026.
Liu, Dean. "KCNH2 Gene" Encyclopedia, https://encyclopedia.pub/entry/4282 (accessed September 28, 2026).
Liu, D. (2020, December 23). KCNH2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4282
Liu, Dean. "KCNH2 Gene." Encyclopedia. Web. 23 December, 2020.
KCNH2 Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/kcnh2

Potassium voltage-gated channel subfamily H member 2

genes

References

  1. Alders M, Bikker H, Christiaans I. Long QT Syndrome. 2003 Feb 20 [updated 2018Feb 8]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1129/
  2. Brugada R, Hong K, Dumaine R, Cordeiro J, Gaita F, Borggrefe M, Menendez TM,Brugada J, Pollevick GD, Wolpert C, Burashnikov E, Matsuo K, Wu YS, GuerchicoffA, Bianchi F, Giustetto C, Schimpf R, Brugada P, Antzelevitch C. Sudden deathassociated with short-QT syndrome linked to mutations in HERG. Circulation. 2004 Jan 6;109(1):30-5.
  3. Cordeiro JM, Brugada R, Wu YS, Hong K, Dumaine R. Modulation of I(Kr)inactivation by mutation N588K in KCNH2: a link to arrhythmogenesis in short QTsyndrome. Cardiovasc Res. 2005 Aug 15;67(3):498-509.
  4. Hong K, Bjerregaard P, Gussak I, Brugada R. Short QT syndrome and atrialfibrillation caused by mutation in KCNH2. J Cardiovasc Electrophysiol. 2005Apr;16(4):394-6.
  5. McBride CM, Smith AM, Smith JL, Reloj AR, Velasco EJ, Powell J, Elayi CS,Bartos DC, Burgess DE, Delisle BP. Mechanistic basis for type 2 long QT syndrome caused by KCNH2 mutations that disrupt conserved arginine residues in the voltagesensor. J Membr Biol. 2013 May;246(5):355-64. doi: 10.1007/s00232-013-9539-6.
  6. Paulussen AD, Gilissen RA, Armstrong M, Doevendans PA, Verhasselt P, SmeetsHJ, Schulze-Bahr E, Haverkamp W, Breithardt G, Cohen N, Aerssens J. Geneticvariations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QTsyndrome patients. J Mol Med (Berl). 2004 Mar;82(3):182-8.
  7. Paulussen AD, Raes A, Jongbloed RJ, Gilissen RA, Wilde AA, Snyders DJ, Smeets HJ, Aerssens J. HERG mutation predicts short QT based on channel kinetics butcauses long QT by heterotetrameric trafficking deficiency. Cardiovasc Res. 2005Aug 15;67(3):467-75.
  8. Sanguinetti MC. HERG1 channelopathies. Pflugers Arch. 2010 Jul;460(2):265-76. doi: 10.1007/s00424-009-0758-8.
  9. Schimpf R, Wolpert C, Gaita F, Giustetto C, Borggrefe M. Short QT syndrome.Cardiovasc Res. 2005 Aug 15;67(3):357-66. Review.
  10. Smith JL, Anderson CL, Burgess DE, Elayi CS, January CT, Delisle BP. Molecularpathogenesis of long QT syndrome type 2. J Arrhythm. 2016 Oct;32(5):373-380.
  11. Sun Y, Quan XQ, Fromme S, Cox RH, Zhang P, Zhang L, Guo D, Guo J, Patel C,Kowey PR, Yan GX. A novel mutation in the KCNH2 gene associated with short QTsyndrome. J Mol Cell Cardiol. 2011 Mar;50(3):433-41. doi:10.1016/j.yjmcc.2010.11.017.
  12. Thomas D, Kiehn J, Katus HA, Karle CA. Defective protein trafficking inhERG-associated hereditary long QT syndrome (LQT2): molecular mechanisms andrestoration of intracellular protein processing. Cardiovasc Res. 2003 Nov1;60(2):235-41. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Dean Liu
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Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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