{"id":13758,"date":"2024-03-01T09:21:05","date_gmt":"2024-03-01T09:21:05","guid":{"rendered":"https:\/\/www.nanion.de\/?page_id=13758"},"modified":"2024-03-01T09:21:06","modified_gmt":"2024-03-01T09:21:06","slug":"understanding-clcn4","status":"publish","type":"page","link":"https:\/\/nanion.com\/zh-hans\/understanding-clcn4\/","title":{"rendered":"Understanding CLCN4"},"content":{"rendered":"<div id=\"pl-13758\" class=\"panel-layout\"><div id=\"pg-13758-0\" class=\"panel-grid panel-has-style\"><div class=\"siteorigin-panels-stretch panel-row-style panel-row-style-for-13758-0\" data-stretch-type=\"full-width-stretch\"><div id=\"pgc-13758-0-0\" class=\"panel-grid-cell\"><div id=\"panel-13758-0-0-0\" class=\"so-panel widget widget_rev-slider-widget widget_revslider panel-first-child panel-last-child\" data-index=\"0\">\n\t\t\t\t<p class=\"rs-p-wp-fix\"><\/p>\n\t\t\t\t<sr7-module data-alias=\"landing-page-num2024-1\" data-id=\"86\" id=\"SR7_86_1\" class=\"rs-respect-topbar rs-ov-hidden\" data-version=\"6.7.57\">\n\t\t\t\t\t<sr7-adjuster><\/sr7-adjuster>\n\t\t\t\t\t<sr7-content>\n\t\t\t\t\t\t<sr7-slide id=\"SR7_86_1-176\" data-key=\"176\">\n\t\t\t\t\t\t\t<h2 id=\"SR7_86_1-176-2\" class=\"sr7-layer\">Rare diseases<br>\nCare for the rare<\/h2>\n\t\t\t\t\t\t\t<h1 id=\"SR7_86_1-176-11\" class=\"sr7-layer\">Understanding CLCN4<\/h1>\n\t\t\t\t\t\t\t<sr7-txt id=\"get-in-touch\" class=\"sr7-layer\">Request a proof of concept study<\/sr7-txt>\n\t\t\t\t\t\t<\/sr7-slide>\n\t\t\t\t\t\t<sr7-slide id=\"SR7_86_1-230\" data-key=\"230\">\n\t\t\t\t\t\t<\/sr7-slide>\n\t\t\t\t\t<\/sr7-content>\n\t\t\t\t\t<image_lists style=\"display:none\">\n\t\t\t\t\t\t<img data-src=\"\/wp-content\/uploads\/revslider\/Landing-page-slider\/landing-page-logo.png\" data-libid=\"11712\" title=\"landing-page-logo.png\" width=\"0\" height=\"0\" data-dbsrc=\"L3dwLWNvbnRlbnQvdXBsb2Fkcy9yZXZzbGlkZXIvTGFuZGluZy1wYWdlLXNsaWRlci9sYW5kaW5nLXBhZ2UtbG9nby5wbmc=\">\n\t\t\t\t\t\t<img data-src=\"\/wp-content\/uploads\/2024\/02\/1440-x-700-px-_-Cure-CLCN4.png\" data-libid=\"13795\" title=\"1440 x 700 px _ Cure CLCN4 for PC\" width=\"0\" height=\"0\" data-dbsrc=\"L3dwLWNvbnRlbnQvdXBsb2Fkcy8yMDI0LzAyLzE0NDAteC03MDAtcHgtXy1DdXJlLUNMQ040LnBuZw==\">\n\t\t\t\t\t\t<img data-src=\"\/wp-content\/uploads\/revslider\/Landing-page-slider\/R00.png\" data-libid=\"11715\" title=\"R00.png\" width=\"0\" height=\"0\" data-dbsrc=\"L3dwLWNvbnRlbnQvdXBsb2Fkcy9yZXZzbGlkZXIvTGFuZGluZy1wYWdlLXNsaWRlci9SMDAucG5n\">\n\t\t\t\t\t\t<img data-src=\"\/wp-content\/uploads\/revslider\/Landing-page-slider\/L00.png\" data-libid=\"11718\" title=\"L00.png\" width=\"0\" height=\"0\" data-dbsrc=\"L3dwLWNvbnRlbnQvdXBsb2Fkcy9yZXZzbGlkZXIvTGFuZGluZy1wYWdlLXNsaWRlci9MMDAucG5n\">\n\t\t\t\t\t\t<img data-src=\"\/wp-content\/uploads\/2024\/02\/991-x-700-px-_-Cure-CLCN4_-for-tablets.png\" data-libid=\"13822\" title=\"991 x 700 px _ Cure CLCN4_ for tablets\" width=\"0\" height=\"0\" data-dbsrc=\"L3dwLWNvbnRlbnQvdXBsb2Fkcy8yMDI0LzAyLzk5MS14LTcwMC1weC1fLUN1cmUtQ0xDTjRfLWZvci10YWJsZXRzLnBuZw==\">\n\t\t\t\t\t\t<img data-src=\"\/wp-content\/uploads\/2024\/02\/634-x-506-px-_-Cure-CLCN4_-for-mobile.png\" data-libid=\"13824\" title=\"634 x 506 px _ Cure CLCN4_ for mobile\" width=\"0\" height=\"0\" data-dbsrc=\"L3dwLWNvbnRlbnQvdXBsb2Fkcy8yMDI0LzAyLzYzNC14LTUwNi1weC1fLUN1cmUtQ0xDTjRfLWZvci1tb2JpbGUucG5n\">\n\t\t\t\t\t\t<img data-src=\"\/wp-content\/uploads\/revslider\/products\/Scroll.svg\" data-libid=\"654\" title=\"Scroll.svg\" width=\"0\" height=\"0\" data-dbsrc=\"L3dwLWNvbnRlbnQvdXBsb2Fkcy9yZXZzbGlkZXIvcHJvZHVjdHMvU2Nyb2xsLnN2Zw==\">\n\t\t\t\t\t<\/image_lists>\n\t\t\t\t<\/sr7-module>\n\t\t\t\t<script>\n\t\t\t\t\twindow.SR7 ??={};SR7.PMH ??={}; SR7.PMH[\"SR7_86_1\"] = {cn:100,state:false,fn: function() { if (window._tpt!==undefined && window._tpt.prepareModuleHeight !== undefined) {  _tpt.prepareModuleHeight({id:\"SR7_86_1\",el:[882,882,882,882,750],type:'standard',shdw:'0',gh:[882,882,882,882,750],gw:[1200,1200,991,767,540],vpt:['100px&#039;,&#039;100px&#039;,&#039;100px&#039;,&#039;100px&#039;,&#039;100px'],size:{fullWidth:false, fullHeight:false},mh:'0',onh:0,onw:0,bg:{color:'{\"orig\":\"transparent\",\"type\":\"solid\",\"string\":\"transparent\"}'},googleFont:\"ignore\",plType:'6',plColor:'#77c2a1'});   SR7.PMH[\"SR7_86_1\"].state=true;} else if(SR7.PMH[\"SR7_86_1\"].cn-->0)\tsetTimeout( SR7.PMH[\"SR7_86_1\"].fn,19);}};SR7.PMH[\"SR7_86_1\" ].fn();\n\t\t\t\t<\/script>\n<\/div><\/div><\/div><\/div><div id=\"pg-13758-1\" class=\"panel-grid panel-has-style\"><div class=\"lsow-row panel-row-style panel-row-style-for-13758-1\"><div id=\"pgc-13758-1-0\" class=\"panel-grid-cell panel-grid-cell-empty\"><\/div><div id=\"pgc-13758-1-1\" class=\"panel-grid-cell\"><div id=\"panel-13758-1-1-0\" class=\"so-panel widget widget_sow-editor panel-first-child panel-last-child\" data-index=\"1\"><div class=\"so-widget-sow-editor so-widget-sow-editor-base\">\n<div class=\"siteorigin-widget-tinymce textwidget\">\n\t<h2>The CLCN4 gene and<\/h2>\n<h2><strong>CLCN4-related conditions<\/strong><\/h2>\n<\/div>\n<\/div><\/div><\/div><\/div><\/div><div id=\"pg-13758-2\" class=\"panel-grid panel-has-style\"><div class=\"panel-row-style panel-row-style-for-13758-2\"><div id=\"pgc-13758-2-0\" class=\"panel-grid-cell\"><div id=\"panel-13758-2-0-0\" class=\"so-panel widget widget_characters-max-header-widget panel-first-child panel-last-child\" data-index=\"2\"><div class=\"panel-widget-style panel-widget-style-for-13758-2-0-0\"><div class=\"so-widget-characters-max-header-widget so-widget-characters-max-header-widget-default-d75171398898-13758\"><div class=\"characters-max-header\">\n\t<h4 style=\"color: #77c2a1;font-weight: 700;\">Mutations in the CLCN4 gene and effects on CLC-4 protein function <\/h4><\/div><\/div><\/div><\/div><\/div><div id=\"pgc-13758-2-1\" class=\"panel-grid-cell\"><div class=\"panel-cell-style panel-cell-style-for-13758-2-1\"><div id=\"panel-13758-2-1-0\" class=\"so-panel widget widget_sow-editor panel-first-child\" data-index=\"3\"><div class=\"so-widget-sow-editor so-widget-sow-editor-base\">\n<div class=\"siteorigin-widget-tinymce textwidget\">\n\t<p>The CLCN4 gene encodes the CLC-4 protein, a Cl<sup>-<\/sup>\/H<sup>+<\/sup> exchanger expressed primarily in brain and skeletal muscle. The CLC-4 protein is expressed in intracellular organelles and is thought to be involved in ion homeostasis of endosomes and intracellular trafficking. The CLCN4 gene is located on the X-chromosome and mutations in this gene lead to frameshift, missense and splice site variants, and chromosomal microdeletions in the CLC-4 protein. Dysfunction of this protein underlies the clinical phenotype of CLCN4-related conditions, symptoms of which include intellectual disability and other problems such as epilepsy, behavioural disorders, movement disorders and microcephaly.<\/p>\n<p>CLCN4-related conditions are extremely rare, so far just over 120 individuals worldwide with a CLCN4 gene change have been identified. However, symptoms vary widely in their extent and severity and as genetic testing becomes more widely available, more individuals with undiagnosed intellectual disability are likely to be diagnosed with CLCN4-related conditions.<\/p>\n<p>More research is desperately needed into CLCN4 and the protein, CLC-4. We are proud to support the <a href=\"https:\/\/cureclcn4.org\/cure-clcn4-scientific-conference-2024\/\" target=\"_blank\" rel=\"noopener\">Cure CLCN4 Annual Scientific Meeting<\/a> to further the understanding of the basic biology of CIC-4 and investigate therapeutic options for these patients.<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div><\/div><div id=\"panel-13758-2-1-1\" class=\"so-panel widget widget_sow-image panel-last-child\" data-index=\"4\"><div class=\"so-widget-sow-image so-widget-sow-image-default-334eeca80698-13758\">\n<div class=\"sow-image-container\">\n\t\t<noscript><img src=\"https:\/\/nanion.com\/wp-content\/uploads\/2024\/02\/Understanding-CLCN4_landing-page_-1200-x-754-px.png\" width=\"1200\" height=\"754\" srcset=\"https:\/\/nanion.com\/wp-content\/uploads\/2024\/02\/Understanding-CLCN4_landing-page_-1200-x-754-px.png 1200w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/02\/Understanding-CLCN4_landing-page_-1200-x-754-px-300x189.png 300w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/02\/Understanding-CLCN4_landing-page_-1200-x-754-px-1024x643.png 1024w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/02\/Understanding-CLCN4_landing-page_-1200-x-754-px-768x483.png 768w\" sizes=\"(max-width: 1200px) 100vw, 1200px\" alt class=\"so-widget-image\"><\/noscript><img src=\"data:image\/svg+xml,%3Csvg%20xmlns%3D%22http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg%22%20viewBox%3D%220%200%201200%20754%22%3E%3C%2Fsvg%3E\" width=\"1200\" height=\"754\" srcset=\"data:image\/svg+xml,%3Csvg%20xmlns%3D%22http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg%22%20viewBox%3D%220%200%201200%20754%22%3E%3C%2Fsvg%3E 1200w\" sizes=\"(max-width: 1200px) 100vw, 1200px\" alt class=\"so-widget-image lazyload\" data-srcset=\"https:\/\/nanion.com\/wp-content\/uploads\/2024\/02\/Understanding-CLCN4_landing-page_-1200-x-754-px.png 1200w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/02\/Understanding-CLCN4_landing-page_-1200-x-754-px-300x189.png 300w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/02\/Understanding-CLCN4_landing-page_-1200-x-754-px-1024x643.png 1024w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/02\/Understanding-CLCN4_landing-page_-1200-x-754-px-768x483.png 768w\" data-src=\"https:\/\/nanion.com\/wp-content\/uploads\/2024\/02\/Understanding-CLCN4_landing-page_-1200-x-754-px.png\">\n\t<\/div>\n\n<\/div><\/div><\/div><\/div><\/div><\/div><div id=\"pg-13758-3\" class=\"panel-grid panel-has-style\"><div class=\"siteorigin-panels-stretch panel-row-style panel-row-style-for-13758-3\" data-stretch-type=\"full\"><div id=\"pgc-13758-3-0\" class=\"panel-grid-cell\"><div class=\"panel-cell-style panel-cell-style-for-13758-3-0\"><div id=\"panel-13758-3-0-0\" class=\"so-panel widget widget_sow-headline panel-first-child panel-last-child\" data-index=\"5\"><div class=\"all-font-bold panel-widget-style panel-widget-style-for-13758-3-0-0\"><div class=\"so-widget-sow-headline so-widget-sow-headline-default-bbe763b66c88-13758\"><div class=\"sow-headline-container \">\n\t\t\t\t\t\t\t<h4 class=\"sow-headline\">\n\t\t\t\t\t\tTools to investigate CLCN4\t\t\t\t\t\t<\/h4>\n\t\t\t\t\t\t<\/div>\n<\/div><\/div><\/div><\/div><\/div><div id=\"pgc-13758-3-1\" class=\"panel-grid-cell panel-grid-cell-mobile-last\"><div id=\"panel-13758-3-1-0\" class=\"so-panel widget widget_sow-editor panel-first-child\" data-index=\"6\"><div class=\"so-widget-sow-editor so-widget-sow-editor-base\">\n<div class=\"siteorigin-widget-tinymce textwidget\">\n\t<h3>Using electrophysiology to precisely understand <strong>CLC-4 function<\/strong><\/h3>\n<\/div>\n<\/div><\/div><div id=\"panel-13758-3-1-1\" class=\"so-panel widget widget_sow-editor\" data-index=\"7\"><div class=\"so-widget-sow-editor so-widget-sow-editor-base\">\n<div class=\"siteorigin-widget-tinymce textwidget\">\n\t<p>We provide a range of electrophysiology platforms to study ion channels and transporters in native and heterologous cells, intracellular organelles and membranes:<\/p>\n<ul>\n<li>Single channel recordings on <a href=\"\/products\/orbit-mini\/\">Orbit mini<\/a> and <a href=\"\/products\/orbit-16tc\/\">Orbit 16 TC<\/a> platforms can resolve state transitions and ion permeation of individual ion channel proteins in native or artificial membranes.<\/li>\n<li>Whole-cell recordings on <a href=\"\/products\/port-a-patch\/\">Port-a-Patch<\/a>, <a href=\"\/products\/patchliner\/\">Patchliner <\/a>and <a href=\"\/products\/syncropatch-384\/\">SyncroPatch 384<\/a> can reveal ion channel selectivity, voltage-dependent biophysics and ligand-activation, as well as pharmacology of modulators and the effects of accessory subunits and second messengers.<\/li>\n<li>The <a href=\"\/products\/surfe2r-n1\/\">SURFE<sup>2<\/sup>R N1<\/a> and <a href=\"\/products\/surfer-96se\/\">SURFE<sup>2<\/sup>R 96SE<\/a> platforms can measure ion channel and transporter activity in organellar membranes.<\/li>\n<\/ul>\n<p>These platforms can be used to study basic mechanisms of CLC-4 function and could be used to investigate variants of unknown significance of CLCN4-related conditions, as well as screening for potential new drugs.<\/p>\n<\/div>\n<\/div><\/div><div id=\"panel-13758-3-1-2\" class=\"so-panel widget widget_sow-button panel-last-child\" data-index=\"8\"><div class=\"so-widget-sow-button so-widget-sow-button-flat-24c0153bf600-13758\"><div class=\"ow-button-base ow-button-align-left\">\n\t\t\t<a class=\"btn-primary sf-form sowb-button ow-icon-placement-left ow-button-hover\">\n\t\t<span>\n\t\t\t\n\t\t\tRequest a proof of concept study\t\t<\/span>\n\t\t\t<\/a>\n\t<\/div>\n<\/div><\/div><\/div><div id=\"pgc-13758-3-2\" class=\"panel-grid-cell panel-grid-cell-empty\"><\/div><\/div><\/div><div id=\"pg-13758-4\" class=\"panel-grid panel-no-style\"><div id=\"pgc-13758-4-0\" class=\"panel-grid-cell\"><div id=\"panel-13758-4-0-0\" class=\"so-panel widget 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widget_sow-headline panel-first-child\" data-index=\"0\"><div class=\"all-font-bold panel-widget-style panel-widget-style-for-w37a6259c-0-0-0\"><div class=\"so-widget-sow-headline so-widget-sow-headline-default-450823ccbceb\"><div class=\"sow-headline-container \">\n\t\t\t\t\t\t\t<h4 class=\"sow-headline\">\n\t\t\t\t\t\tSubmission received\t\t\t\t\t\t<\/h4>\n\t\t\t\t\t\t<\/div>\n<\/div><\/div><\/div><div id=\"panel-w37a6259c-0-0-1\" class=\"so-panel widget widget_sow-headline panel-last-child\" data-index=\"1\"><div class=\"all-font-bold panel-widget-style panel-widget-style-for-w37a6259c-0-0-1\"><div class=\"so-widget-sow-headline so-widget-sow-headline-default-810623cd80db\"><div class=\"sow-headline-container \">\n\t\t\t\t\t\t\t<h2 class=\"sow-headline\">\n\t\t\t\t\t\tThank you for your request\t\t\t\t\t\t<\/h2>\n\t\t\t\t\t\t<\/div>\n<\/div><\/div><\/div><\/div><\/div><\/div><div id=\"pg-w37a6259c-1\" class=\"panel-grid panel-has-style\"><div class=\"content-group panel-row-style panel-row-style-for-w37a6259c-1\"><div id=\"pgc-w37a6259c-1-0\" class=\"panel-grid-cell\"><div id=\"panel-w37a6259c-1-0-0\" class=\"so-panel widget widget_sow-editor panel-first-child panel-last-child\" data-index=\"2\"><div class=\"panel-widget-style panel-widget-style-for-w37a6259c-1-0-0\"><div class=\"so-widget-sow-editor so-widget-sow-editor-base\">\n<div class=\"siteorigin-widget-tinymce textwidget\">\n\t<p>Our team of dedicated experts will be in contact with you shortly.<\/p>\n<p>In the meantime, discover our Therapeutic areas and Product Portfolio:<\/p>\n<\/div>\n<\/div><\/div><\/div><\/div><\/div><\/div><div id=\"pg-w37a6259c-2\" class=\"panel-grid panel-has-style\"><div class=\"button-group panel-row-style panel-row-style-for-w37a6259c-2\"><div id=\"pgc-w37a6259c-2-0\" class=\"panel-grid-cell\"><div class=\"panel-cell-style panel-cell-style-for-w37a6259c-2-0\"><div id=\"panel-w37a6259c-2-0-0\" class=\"so-panel widget widget_sow-button panel-first-child\" data-index=\"3\"><div 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     <\/div>\n        <\/div>\n    <\/div>\n    <\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"<p>The CLCN4 gene and CLCN4-related conditions<\/p>\n","protected":false},"author":6,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"page-landing.php","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-13758","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/pages\/13758","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/comments?post=13758"}],"version-history":[{"count":22,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/pages\/13758\/revisions"}],"predecessor-version":[{"id":13859,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/pages\/13758\/revisions\/13859"}],"wp:attachment":[{"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/media?parent=13758"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}