{"id":9945,"date":"2010-03-07T07:32:34","date_gmt":"2010-03-07T07:32:34","guid":{"rendered":"http:\/\/cardiophile.org\/?p=4070"},"modified":"2010-03-07T07:32:34","modified_gmt":"2010-03-07T07:32:34","slug":"lqts-11-gene-akap9-a-kinase-anchor-protein-9-yotiao","status":"publish","type":"post","link":"https:\/\/johnsonfrancis.org\/professional\/lqts-11-gene-akap9-a-kinase-anchor-protein-9-yotiao\/","title":{"rendered":"LQTS 11 gene: AKAP9: A-kinase anchor protein 9 \u00a0(Yotiao)"},"content":{"rendered":"

LQTS 11 gene: AKAP9: A-kinase anchor protein 9 \u00a0(Yotiao)<\/span><\/h2>\n

LQTS 11 gene: AKAP9: A-kinase anchor protein 9 \u00a0(Yotiao): A-kinase anchor protein 9 \u00a0(Yotiao) in humans is encoded by the AKAP9 gene.<\/p>\n

Normally cardiac action potential duration shortens during activation of the sympathetic nervous system. This regulation of the cardiac action potential duration mediated by the beta adrenergic receptor activation requires the assembly of AKAP9 with the alpha sub unit (KCNQ1) of the Iks (slow component of delayed rectifier current) potassium channel. A mutation in AKAP9 (Yotiao) in the KCNQ1 binding domain reduces the interaction between KCNQ1 and Yotiao. This in turn reduces the cAMP induced phosphorylation of the channel and prevents the functional response of the Iks channel to cAMP. The final result is prolongation of the action potential and the QT interval due to delayed depolarization by this S1570L-Yotiao mutation [1].<\/p>\n

The gene is located on chromosome 7q21.2. It was found in a 13 year old and one affected sister. She also had another sister and father with ECG diagnosed long QT syndrome [2].<\/p>\n

Reference<\/span><\/strong><\/p>\n

    \n
  1. Lei Chen, Michelle L Marquardt, David J Tester, Kevin J Sampson, Michael J Ackerman, Robert S Kass. Mutation of an A-kinase-anchoring protein causes long-QT syndrome<\/a>. Proc Natl Acad Sci U S A. 2007 Dec 26;104(52):20990-5.<\/li>\n
  2. Online Mendelian Inheritance in Man, OMIM\u00ae. Johns Hopkins University, Baltimore, MD. MIM Number: {604001}: {04\/23\/2017}: . World Wide Web URL: https:\/\/omim.org\/<\/a><\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"

    LQTS 11 (LQT11) gene is AKAP9. A-kinase anchor protein 9 (Yotiao) in humans is encoded by the AKAP9 gene.<\/p>\n","protected":false},"author":1,"featured_media":37132,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"nf_dc_page":"","footnotes":""},"categories":[6],"tags":[],"class_list":["post-9945","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-ecg-electrophysiology"],"yoast_head":"\nLQTS 11 gene: AKAP9: A-kinase anchor protein 9 \u00a0(Yotiao)<\/title>\n<meta name=\"description\" content=\"LQTS 11 gene: AKAP9: A-kinase anchor protein 9 \u00a0(Yotiao). 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