ankyrin 2. The ANK2 gene provides instructions for making a protein called ankyrin-B.
genes
References
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/
Chiang CE. Congenital and acquired long QT syndrome. Current concepts andmanagement. Cardiol Rev. 2004 Jul-Aug;12(4):222-34. Review.
Cunha SR, Mohler PJ. Obscurin targets ankyrin-B and protein phosphatase 2A to the cardiac M-line. J Biol Chem. 2008 Nov 14;283(46):31968-80. doi:10.1074/jbc.M806050200.
Mohler PJ, Bennett V. Ankyrin-based cardiac arrhythmias: a new class ofchannelopathies due to loss of cellular targeting. Curr Opin Cardiol. 2005May;20(3):189-93. Review.
Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, DriskellIM, Schott JJ, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM. Defining thecellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variantsassociated with clinical phenotypes display a spectrum of activities incardiomyocytes. Circulation. 2007 Jan 30;115(4):432-41.
Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, SongLS, Haurogné K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H,Bennett V. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and suddencardiac death. Nature. 2003 Feb 6;421(6923):634-9.
Mohler PJ, Splawski I, Napolitano C, Bottelli G, Sharpe L, Timothy K, PrioriSG, Keating MT, Bennett V. A cardiac arrhythmia syndrome caused by loss ofankyrin-B function. Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):9137-42.
Sherman J, Tester DJ, Ackerman MJ. Targeted mutational analysis of ankyrin-Bin 541 consecutive, unrelated patients referred for long QT syndrome genetictesting and 200 healthy subjects. Heart Rhythm. 2005 Nov;2(11):1218-23.
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