{"id":9173,"date":"2017-08-04T08:27:04","date_gmt":"2017-08-04T06:27:04","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/gen-des-monats-juli-kcnq5\/"},"modified":"2017-08-04T10:08:17","modified_gmt":"2017-08-04T08:08:17","slug":"gene-of-the-month-july-kcnq5","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-july-kcnq5\/","title":{"rendered":"Gene of the Month &#8211; July: KCNQ5"},"content":{"rendered":"<p>The <em>KCNQ<\/em> gene family encodes potassium channel proteins, which are essential for the transport of potassium ions across the cell membrane. It comprises five genes, and mutations in four of these genes have already been linked to hereditary diseases (cardiac arrhythmias [<em>KCNQ1<\/em>], epilepsy [<em>KCNQ2<\/em> and <em>KCNQ3<\/em>] and hearing loss [<em>KCNQ4<\/em>]). <em>KCNQ5<\/em> is a highly conserved gene that is primarily expressed in brain. An international group of researchers from Canada, the U.S. and the Netherlands have now discovered that defects of <em>KCNQ5<\/em> cause a condition with intellectual disability and\/or epileptic encephalopathy. By whole-exome sequencing they identified de novo heterozygous missense mutations in four probands.<\/p>\n<p>Potassium channels act in various functions and physiological processes including propagation of nerve impulses. Kv7.5, the protein encoded by <em>KCNQ5<\/em>, is a voltage-gated potassium channel. In neurons, it regulates the M-current, a slowly activating and deactivating potassium current that plays an important role in regulating neuronal excitability by inhibiting repeated action-potential firing. By functional analyses in frog oocytes the scientists revealed that the newly identified <em>KCNQ5<\/em> variants caused shifts in the voltage dependence of activation and altered activation and deactivation kinetics, with both loss-of-function and gain-of-function mutations leading to pathophysiology.<\/p>\n<p>The study, which has been published in the <em>American Journal of Human Genetics<\/em>, reveals for the first time a phenotype caused by <em>KCNQ5<\/em> mutations.<\/p>\n[vc_column_text] Lehman A, Thouta S, Mancini GMS, \u2026, Claydon T. Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. <em>Am J Hum Genet<\/em>. 2017 Jul 6;101(1):65-74. doi: 10.1016\/j.ajhg.2017.05.016. [\/vc_column_text]\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28669405&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>The KCNQ gene family encodes potassium channel proteins, which are essential for the transport of potassium ions across the cell membrane. It comprises five genes, and mutations in four of these genes have already been linked to hereditary diseases (cardiac arrhythmias [KCNQ1], epilepsy [KCNQ2 and KCNQ3] and hearing loss [KCNQ4]). KCNQ5 is a highly conserved [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-9173","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gene of the Month - July: KCNQ5 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-july-kcnq5\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene of the Month - July: KCNQ5 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"The KCNQ gene family encodes potassium channel proteins, which are essential for the transport of potassium ions across the cell membrane. It comprises five genes, and mutations in four of these genes have already been linked to hereditary diseases (cardiac arrhythmias [KCNQ1], epilepsy [KCNQ2 and KCNQ3] and hearing loss [KCNQ4]). 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