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<title>
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Entry
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- *179410 - RADIXIN; RDX
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- OMIM
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</ul>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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<a href="/history"> Search History </a>
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</form>
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<p />
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<div id="mimAlertBanner">
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*179410</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/179410">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000137710;t=ENST00000645495" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=5962" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=179410" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000137710;t=ENST00000645495" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001260492,NM_001260493,NM_001260494,NM_001260495,NM_001260496,NM_002906,XM_047427390,XM_047427391" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_002906" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=179410" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
|
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01534&isoform_id=01534_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/RDX" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/307366,464541,4506467,20810252,28436809,33990951,113374294,113374296,113374298,113374300,113374302,116283433,119587533,119587534,119587535,167887692,189053586,221040572,221045510,386781550,386781571,386781587,386781601,386781609,2217284099,2217284101,2462526871,2462526873" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P35241" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
|
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</div>
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</a>
|
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</span>
|
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=5962" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000137710;t=ENST00000645495" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=RDX" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=RDX" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+5962" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/RDX" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:5962" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/5962" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr11&hgg_gene=ENST00000645495.2&hgg_start=110174922&hgg_end=110296614&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9944" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:9944" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=179410[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=179410[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000137710" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=RDX" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=RDX" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RDX" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=RDX&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA34311" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:9944" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0011661.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:97887" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/RDX#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:97887" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/5962/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=5962" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00001333;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
|
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5962" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=RDX&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
179410
|
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</span>
|
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</span>
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</div>
|
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</div>
|
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
|
<span class="mim-font">
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RADIXIN; RDX
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=RDX" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RDX</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/11/902?start=-3&limit=10&highlight=902">11q22.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:110174922-110296614&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">11:110,174,922-110,296,614</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
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</span>
|
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</p>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/902?start=-3&limit=10&highlight=902">
|
|
11q22.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Deafness, autosomal recessive 24
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/611022"> 611022 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<p>Radixin (RDX), a member of the band 4.1 superfamily, has a role in formation of the membrane-associated cytoskeleton by linking actin filaments to the plasma membrane (summary by <a href="#2" class="mim-tip-reference" title="Khan, S. Y., Ahmed, Z. M., Shabbir, M. I., Kitajiri, S., Kalsoom, S., Tasneem, S., Shayiq, S., Ramesh, A., Srisailpathy, S., Khan, S. N., Smith, R. J. H., Riazuddin, S., Friedman, T. B., Riazuddin, S. <strong>Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.</strong> Hum. Mutat. 28: 417-423, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17226784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17226784</a>] [<a href="https://doi.org/10.1002/humu.20469" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17226784">Khan et al., 2007</a> and <a href="#6" class="mim-tip-reference" title="Shearer, A. E., Hildebrand, M. S., Bromhead, C. J., Kahrizi, K., Webster, J. A., Azadeh, B., Kimberling, W. J., Anousheh, A., Nazeri, A., Stephan, D., Najmabadi, H., Smith, R. J. H., Bahlo, M. <strong>A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. (Letter)</strong> Am. J. Med. Genet. 149A: 555-558, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19215054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19215054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19215054[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32670" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19215054">Shearer et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17226784+19215054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Wilgenbus, K. K., Milatovich, A., Francke, U., Furthmayr, H. <strong>Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes.</strong> Genomics 16: 199-206, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486357</a>] [<a href="https://doi.org/10.1006/geno.1993.1159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486357">Wilgenbus et al. (1993)</a> cloned and sequenced the human radixin cDNA and found the predicted amino acid sequence for the human protein to be nearly identical to those predicted for radixin in mouse and pig. <a href="#7" class="mim-tip-reference" title="Wilgenbus, K. K., Milatovich, A., Francke, U., Furthmayr, H. <strong>Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes.</strong> Genomics 16: 199-206, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486357</a>] [<a href="https://doi.org/10.1006/geno.1993.1159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486357">Wilgenbus et al. (1993)</a> noted that cloning of the murine and porcine radixin cDNAs demonstrated a protein highly homologous to ezrin (<a href="/entry/123900">123900</a>) and moesin (<a href="/entry/309845">309845</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486357" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By immunocytochemical analysis of isolated inner ear hair cells, <a href="#5" class="mim-tip-reference" title="Pataky, F., Pironkova, R., Hudspeth, A. J. <strong>Radixin is a constituent of stereocilia in hair cells.</strong> Proc. Nat. Acad. Sci. 101: 2601-2606, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14983055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14983055</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14983055[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0308620100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14983055">Pataky et al. (2004)</a> demonstrated that radixin is expressed at the base of hair bundles in chicken, frog, mouse, and zebrafish. Electron microscopic analysis found labeling in the stereociliary taper and the lower stereociliary shaft, with progressively less labeling toward the top of the hair bundle. <a href="#5" class="mim-tip-reference" title="Pataky, F., Pironkova, R., Hudspeth, A. J. <strong>Radixin is a constituent of stereocilia in hair cells.</strong> Proc. Nat. Acad. Sci. 101: 2601-2606, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14983055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14983055</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14983055[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0308620100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14983055">Pataky et al. (2004)</a> concluded that radixin may participate in anchoring the 'pointed' ends of actin filaments to the membrane in stereocilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14983055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Khan, S. Y., Ahmed, Z. M., Shabbir, M. I., Kitajiri, S., Kalsoom, S., Tasneem, S., Shayiq, S., Ramesh, A., Srisailpathy, S., Khan, S. N., Smith, R. J. H., Riazuddin, S., Friedman, T. B., Riazuddin, S. <strong>Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.</strong> Hum. Mutat. 28: 417-423, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17226784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17226784</a>] [<a href="https://doi.org/10.1002/humu.20469" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17226784">Khan et al. (2007)</a> identified 6 alternatively spliced RDX isoforms in human retina and inner eye. The major full-length protein contains 627 amino acids forming 3 known functional domains: an N-terminal FERM domain that localizes the protein to the plasma membrane, a central helical alpha-domain, and a C-terminal actin-binding domain. By immunohistochemical analysis of mouse inner ear, <a href="#2" class="mim-tip-reference" title="Khan, S. Y., Ahmed, Z. M., Shabbir, M. I., Kitajiri, S., Kalsoom, S., Tasneem, S., Shayiq, S., Ramesh, A., Srisailpathy, S., Khan, S. N., Smith, R. J. H., Riazuddin, S., Friedman, T. B., Riazuddin, S. <strong>Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.</strong> Hum. Mutat. 28: 417-423, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17226784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17226784</a>] [<a href="https://doi.org/10.1002/humu.20469" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17226784">Khan et al. (2007)</a> confirmed the localization of radixin along the length of cochlear hair cell stereocilia and in hair cells of the crista ampullaris at postnatal day 30. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17226784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using antigen-activated T cells, <a href="#1" class="mim-tip-reference" title="Faure, S., Salazar-Fontana, L. I., Semichon, M., Tybulewicz, V. L. J., Bismuth, G., Trautmann, A., Germain, R. N., Delon, J. <strong>ERM proteins regulate cytoskeleton relaxation promoting T cell-APC conjugation.</strong> Nature Immun. 5: 272-279, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14758359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14758359</a>] [<a href="https://doi.org/10.1038/ni1039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14758359">Faure et al. (2004)</a> showed that the ezrin-radixin-moesin (ERM) proteins are rapidly inactivated through a VAV1 (<a href="/entry/164875">164875</a>)-RAC1 (<a href="/entry/602048">602048</a>) pathway. The resulting disanchoring of the cortical actin cytoskeleton from the plasma membrane decreased cellular rigidity, leading to more efficient T cell-APC (antigen-presenting cell) conjugate formation. The authors concluded that this pathway favors immunologic synapse formation and the development of an effective immune response. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14758359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Wilgenbus, K. K., Milatovich, A., Francke, U., Furthmayr, H. <strong>Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes.</strong> Genomics 16: 199-206, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486357</a>] [<a href="https://doi.org/10.1006/geno.1993.1159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486357">Wilgenbus et al. (1993)</a> used PCR of Chinese hamster/human somatic cell hybrid DNAs, as well as standard Southern analysis of somatic cell hybrids, to assign the RDX gene to 11q. By fluorescence in situ hybridization, they further localized the gene to 11q23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486357" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Pseudogenes</em></strong></p><p>
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<a href="#7" class="mim-tip-reference" title="Wilgenbus, K. K., Milatovich, A., Francke, U., Furthmayr, H. <strong>Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes.</strong> Genomics 16: 199-206, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486357</a>] [<a href="https://doi.org/10.1006/geno.1993.1159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486357">Wilgenbus et al. (1993)</a> assigned a truncated version of the RDX gene representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486357" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Khan, S. Y., Ahmed, Z. M., Shabbir, M. I., Kitajiri, S., Kalsoom, S., Tasneem, S., Shayiq, S., Ramesh, A., Srisailpathy, S., Khan, S. N., Smith, R. J. H., Riazuddin, S., Friedman, T. B., Riazuddin, S. <strong>Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.</strong> Hum. Mutat. 28: 417-423, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17226784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17226784</a>] [<a href="https://doi.org/10.1002/humu.20469" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17226784">Khan et al. (2007)</a> identified 3 respective pathogenic mutations in the RDX gene (<a href="#0001">179410.0001</a>-<a href="#0003">179410.0003</a>) in affected members of 3 Pakistani families with autosomal recessive deafness-24 (DFNB24; <a href="/entry/611022">611022</a>). The mutations were predicted to disrupt or delete the actin-binding domain of the protein. None of the affected individuals had vestibular dysfunction or hyperbilirubinemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17226784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The ERM family of proteins crosslink actin filaments and integral membrane proteins. Radixin is the dominant ERM protein in the liver of wildtype mice and is concentrated at bile canalicular membranes (BCM). <a href="#3" class="mim-tip-reference" title="Kikuchi, S., Hata, M., Fukumoto, K., Yamane, Y., Matsui, T., Tamura, A., Yonemura, S., Yamagishi, H., Keppler, D., Tsukita, S., Tsukita, S. <strong>Radixin deficiency causes conjugated hyperbilirubinemia with loss of Mrp2 from bile canalicular membranes.</strong> Nature Genet. 31: 320-325, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12068294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12068294</a>] [<a href="https://doi.org/10.1038/ng905" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12068294">Kikuchi et al. (2002)</a> showed that Rdx -/- mice are normal at birth, but their serum concentrations of conjugated bilirubin begin to increase gradually around 4 weeks of age, and they show mild liver injury after 8 weeks. This phenotype is similar to human conjugated hyperbilirubinemia in Dubin-Johnson syndrome (<a href="/entry/237500">237500</a>), which is caused by mutations in the ABCC2 gene (<a href="/entry/601107">601107</a>), although Dubin-Johnson syndrome is not associated with overt liver injury. In wildtype mice, the protein product of the ABCC2 gene, multidrug resistance protein-2, or MRP2, concentrates at BCMs to secrete conjugated bilirubin into bile. In the BCMs of Rdx -/- mice, Mrp2 is decreased compared with other BCM proteins such as dipeptidyl peptidase IV (CD26; <a href="/entry/102720">102720</a>) and P-glycoproteins. In vitro binding studies showed that radixin associates directly with the C-terminal cytoplasmic domain of human MRP2. These findings indicated that radixin is required for secretion of conjugated bilirubin through its support of Mrp2 localization at BCMs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12068294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the adult mouse, <a href="#4" class="mim-tip-reference" title="Kitajiri, S., Fukumoto, K., Hata, M., Sasaki, H., Katsuno, T., Nakagawa, T., Ito, J., Tsukita, S., Tsukita, S. <strong>Radixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia.</strong> J. Cell Biol. 166: 559-570, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15314067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15314067</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15314067[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1083/jcb.200402007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15314067">Kitajiri et al. (2004)</a> demonstrated that radixin was enriched in stereocilia of cochlear and vestibular sensory hair cells. Rdx-null mice adult mice were deaf but had no obvious vestibular dysfunction. As the Rdx-null mice grew, ezrin-based cochlear stereocilia progressively degenerated, whereas ezrin-based vestibular stereocilia were maintained normally. <a href="#4" class="mim-tip-reference" title="Kitajiri, S., Fukumoto, K., Hata, M., Sasaki, H., Katsuno, T., Nakagawa, T., Ito, J., Tsukita, S., Tsukita, S. <strong>Radixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia.</strong> J. Cell Biol. 166: 559-570, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15314067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15314067</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15314067[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1083/jcb.200402007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15314067">Kitajiri et al. (2004)</a> concluded that radixin is indispensable for hearing ability in mice through the maintenance of cochlear stereocilia, but that ezrin can compensate for radixin deficiency in vestibular stereocilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15314067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>4 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=179410[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918379 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918379;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918379?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 affected sisters from a consanguineous Pakistani family with autosomal recessive deafness-24 (DFNB24; <a href="/entry/611022">611022</a>), <a href="#2" class="mim-tip-reference" title="Khan, S. Y., Ahmed, Z. M., Shabbir, M. I., Kitajiri, S., Kalsoom, S., Tasneem, S., Shayiq, S., Ramesh, A., Srisailpathy, S., Khan, S. N., Smith, R. J. H., Riazuddin, S., Friedman, T. B., Riazuddin, S. <strong>Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.</strong> Hum. Mutat. 28: 417-423, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17226784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17226784</a>] [<a href="https://doi.org/10.1002/humu.20469" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17226784">Khan et al. (2007)</a> identified a homozygous 1732G-A transition in exon 14 of the RDX gene, resulting in an asp578-to-asn (D578N) substitution predicted to disrupt the actin binding domain of radixin. The mutation was not identified in 200 ethnically matched chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17226784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1372141763 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1372141763;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1372141763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1372141763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 4 affected members of a consanguineous Pakistani family with DFNB24 (<a href="/entry/611022">611022</a>), <a href="#2" class="mim-tip-reference" title="Khan, S. Y., Ahmed, Z. M., Shabbir, M. I., Kitajiri, S., Kalsoom, S., Tasneem, S., Shayiq, S., Ramesh, A., Srisailpathy, S., Khan, S. N., Smith, R. J. H., Riazuddin, S., Friedman, T. B., Riazuddin, S. <strong>Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.</strong> Hum. Mutat. 28: 417-423, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17226784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17226784</a>] [<a href="https://doi.org/10.1002/humu.20469" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17226784">Khan et al. (2007)</a> identified a homozygous 1-bp insertion (1404insG) in exon 13 of the RDX gene, resulting in a frameshift and a truncated protein of 486 amino acids that would lack the actin-binding domain. The mutation was not identified in 200 ethnically matched chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17226784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 DEAFNESS, AUTOSOMAL RECESSIVE, 24</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918380 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918380;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a family with DFNB24 (<a href="/entry/611022">611022</a>), <a href="#2" class="mim-tip-reference" title="Khan, S. Y., Ahmed, Z. M., Shabbir, M. I., Kitajiri, S., Kalsoom, S., Tasneem, S., Shayiq, S., Ramesh, A., Srisailpathy, S., Khan, S. N., Smith, R. J. H., Riazuddin, S., Friedman, T. B., Riazuddin, S. <strong>Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.</strong> Hum. Mutat. 28: 417-423, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17226784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17226784</a>] [<a href="https://doi.org/10.1002/humu.20469" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17226784">Khan et al. (2007)</a> identified a homozygous 463C-T transition in exon 5 of the RDX gene, resulting in a gln155-to-ter (Q155X) substitution in the FERM domain. The mutation was not identified in 200 ethnically matched chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17226784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1191259480 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1191259480;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1191259480?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1191259480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1191259480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014075" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014075" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014075</a>
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<p>In 4 affected members of a consanguineous Iranian family with DFNB24 (<a href="/entry/611022">611022</a>), <a href="#6" class="mim-tip-reference" title="Shearer, A. E., Hildebrand, M. S., Bromhead, C. J., Kahrizi, K., Webster, J. A., Azadeh, B., Kimberling, W. J., Anousheh, A., Nazeri, A., Stephan, D., Najmabadi, H., Smith, R. J. H., Bahlo, M. <strong>A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. (Letter)</strong> Am. J. Med. Genet. 149A: 555-558, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19215054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19215054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19215054[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32670" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19215054">Shearer et al. (2009)</a> identified a homozygous G-to-A transition in intron 7 of the RDX gene (689+1G-A), predicted to result in premature termination following exon 7 or nonsense-mediated mRNA decay. Affected individuals had congenital onset of severe to profound hearing loss. The mutation was not identified in 53 Iranian and 133 European controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19215054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Faure2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Faure, S., Salazar-Fontana, L. I., Semichon, M., Tybulewicz, V. L. J., Bismuth, G., Trautmann, A., Germain, R. N., Delon, J.
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<strong>ERM proteins regulate cytoskeleton relaxation promoting T cell-APC conjugation.</strong>
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Nature Immun. 5: 272-279, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14758359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14758359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14758359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ni1039" target="_blank">Full Text</a>]
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<a id="Khan2007" class="mim-anchor"></a>
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Khan, S. Y., Ahmed, Z. M., Shabbir, M. I., Kitajiri, S., Kalsoom, S., Tasneem, S., Shayiq, S., Ramesh, A., Srisailpathy, S., Khan, S. N., Smith, R. J. H., Riazuddin, S., Friedman, T. B., Riazuddin, S.
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<strong>Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.</strong>
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Hum. Mutat. 28: 417-423, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17226784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17226784</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17226784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20469" target="_blank">Full Text</a>]
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<a id="Kikuchi2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kikuchi, S., Hata, M., Fukumoto, K., Yamane, Y., Matsui, T., Tamura, A., Yonemura, S., Yamagishi, H., Keppler, D., Tsukita, S., Tsukita, S.
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<strong>Radixin deficiency causes conjugated hyperbilirubinemia with loss of Mrp2 from bile canalicular membranes.</strong>
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Nature Genet. 31: 320-325, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12068294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12068294</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12068294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng905" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Kitajiri2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kitajiri, S., Fukumoto, K., Hata, M., Sasaki, H., Katsuno, T., Nakagawa, T., Ito, J., Tsukita, S., Tsukita, S.
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<strong>Radixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia.</strong>
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J. Cell Biol. 166: 559-570, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15314067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15314067</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15314067[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15314067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1083/jcb.200402007" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Pataky2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pataky, F., Pironkova, R., Hudspeth, A. J.
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<strong>Radixin is a constituent of stereocilia in hair cells.</strong>
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Proc. Nat. Acad. Sci. 101: 2601-2606, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14983055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14983055</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14983055[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14983055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0308620100" target="_blank">Full Text</a>]
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Shearer2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shearer, A. E., Hildebrand, M. S., Bromhead, C. J., Kahrizi, K., Webster, J. A., Azadeh, B., Kimberling, W. J., Anousheh, A., Nazeri, A., Stephan, D., Najmabadi, H., Smith, R. J. H., Bahlo, M.
|
|
<strong>A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. (Letter)</strong>
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Am. J. Med. Genet. 149A: 555-558, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19215054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19215054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19215054[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19215054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32670" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Wilgenbus1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilgenbus, K. K., Milatovich, A., Francke, U., Furthmayr, H.
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<strong>Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes.</strong>
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Genomics 16: 199-206, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486357</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486357" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1993.1159" target="_blank">Full Text</a>]
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</p>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/14/2007
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 3/16/2004<br>Paul J. Converse - updated : 2/13/2004<br>Victor A. McKusick - updated : 6/18/2002
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</span>
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</div>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 5/4/1993
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/25/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 03/22/2024<br>carol : 09/17/2013<br>wwang : 2/18/2010<br>ckniffin : 2/8/2010<br>wwang : 6/7/2007<br>wwang : 6/7/2007<br>ckniffin : 5/14/2007<br>mgross : 3/24/2004<br>terry : 3/16/2004<br>alopez : 3/1/2004<br>mgross : 2/13/2004<br>alopez : 7/25/2002<br>alopez : 6/20/2002<br>terry : 6/18/2002<br>carol : 4/15/1994<br>carol : 5/4/1993
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</span>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 179410
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<h3>
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<span class="mim-font">
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RADIXIN; RDX
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</h3>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: RDX</em></strong>
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<strong>
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<em>
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Cytogenetic location: 11q22.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:110,174,922-110,296,614 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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11q22.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Deafness, autosomal recessive 24
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</span>
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</td>
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<td>
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<span class="mim-font">
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611022
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Radixin (RDX), a member of the band 4.1 superfamily, has a role in formation of the membrane-associated cytoskeleton by linking actin filaments to the plasma membrane (summary by Khan et al., 2007 and Shearer et al., 2009). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wilgenbus et al. (1993) cloned and sequenced the human radixin cDNA and found the predicted amino acid sequence for the human protein to be nearly identical to those predicted for radixin in mouse and pig. Wilgenbus et al. (1993) noted that cloning of the murine and porcine radixin cDNAs demonstrated a protein highly homologous to ezrin (123900) and moesin (309845). </p><p>By immunocytochemical analysis of isolated inner ear hair cells, Pataky et al. (2004) demonstrated that radixin is expressed at the base of hair bundles in chicken, frog, mouse, and zebrafish. Electron microscopic analysis found labeling in the stereociliary taper and the lower stereociliary shaft, with progressively less labeling toward the top of the hair bundle. Pataky et al. (2004) concluded that radixin may participate in anchoring the 'pointed' ends of actin filaments to the membrane in stereocilia. </p><p>Khan et al. (2007) identified 6 alternatively spliced RDX isoforms in human retina and inner eye. The major full-length protein contains 627 amino acids forming 3 known functional domains: an N-terminal FERM domain that localizes the protein to the plasma membrane, a central helical alpha-domain, and a C-terminal actin-binding domain. By immunohistochemical analysis of mouse inner ear, Khan et al. (2007) confirmed the localization of radixin along the length of cochlear hair cell stereocilia and in hair cells of the crista ampullaris at postnatal day 30. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using antigen-activated T cells, Faure et al. (2004) showed that the ezrin-radixin-moesin (ERM) proteins are rapidly inactivated through a VAV1 (164875)-RAC1 (602048) pathway. The resulting disanchoring of the cortical actin cytoskeleton from the plasma membrane decreased cellular rigidity, leading to more efficient T cell-APC (antigen-presenting cell) conjugate formation. The authors concluded that this pathway favors immunologic synapse formation and the development of an effective immune response. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wilgenbus et al. (1993) used PCR of Chinese hamster/human somatic cell hybrid DNAs, as well as standard Southern analysis of somatic cell hybrids, to assign the RDX gene to 11q. By fluorescence in situ hybridization, they further localized the gene to 11q23. </p><p><strong><em>Pseudogenes</em></strong></p><p>
|
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Wilgenbus et al. (1993) assigned a truncated version of the RDX gene representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Khan et al. (2007) identified 3 respective pathogenic mutations in the RDX gene (179410.0001-179410.0003) in affected members of 3 Pakistani families with autosomal recessive deafness-24 (DFNB24; 611022). The mutations were predicted to disrupt or delete the actin-binding domain of the protein. None of the affected individuals had vestibular dysfunction or hyperbilirubinemia. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The ERM family of proteins crosslink actin filaments and integral membrane proteins. Radixin is the dominant ERM protein in the liver of wildtype mice and is concentrated at bile canalicular membranes (BCM). Kikuchi et al. (2002) showed that Rdx -/- mice are normal at birth, but their serum concentrations of conjugated bilirubin begin to increase gradually around 4 weeks of age, and they show mild liver injury after 8 weeks. This phenotype is similar to human conjugated hyperbilirubinemia in Dubin-Johnson syndrome (237500), which is caused by mutations in the ABCC2 gene (601107), although Dubin-Johnson syndrome is not associated with overt liver injury. In wildtype mice, the protein product of the ABCC2 gene, multidrug resistance protein-2, or MRP2, concentrates at BCMs to secrete conjugated bilirubin into bile. In the BCMs of Rdx -/- mice, Mrp2 is decreased compared with other BCM proteins such as dipeptidyl peptidase IV (CD26; 102720) and P-glycoproteins. In vitro binding studies showed that radixin associates directly with the C-terminal cytoplasmic domain of human MRP2. These findings indicated that radixin is required for secretion of conjugated bilirubin through its support of Mrp2 localization at BCMs. </p><p>In the adult mouse, Kitajiri et al. (2004) demonstrated that radixin was enriched in stereocilia of cochlear and vestibular sensory hair cells. Rdx-null mice adult mice were deaf but had no obvious vestibular dysfunction. As the Rdx-null mice grew, ezrin-based cochlear stereocilia progressively degenerated, whereas ezrin-based vestibular stereocilia were maintained normally. Kitajiri et al. (2004) concluded that radixin is indispensable for hearing ability in mice through the maintenance of cochlear stereocilia, but that ezrin can compensate for radixin deficiency in vestibular stereocilia. </p>
|
|
</span>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
|
<strong>4 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
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<div>
|
|
<p />
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|
</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 DEAFNESS, AUTOSOMAL RECESSIVE, 24</strong>
|
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</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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RDX, ASP578ASN
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<br />
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SNP: rs121918379,
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gnomAD: rs121918379,
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|
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ClinVar: RCV000014072
|
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|
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</span>
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</div>
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|
<div>
|
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<span class="mim-text-font">
|
|
<p>In 2 affected sisters from a consanguineous Pakistani family with autosomal recessive deafness-24 (DFNB24; 611022), Khan et al. (2007) identified a homozygous 1732G-A transition in exon 14 of the RDX gene, resulting in an asp578-to-asn (D578N) substitution predicted to disrupt the actin binding domain of radixin. The mutation was not identified in 200 ethnically matched chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 DEAFNESS, AUTOSOMAL RECESSIVE, 24</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
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|
|
|
RDX, 1-BP INS, 1404G
|
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|
|
<br />
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|
|
SNP: rs1372141763,
|
|
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|
|
|
|
|
ClinVar: RCV000014073
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 affected members of a consanguineous Pakistani family with DFNB24 (611022), Khan et al. (2007) identified a homozygous 1-bp insertion (1404insG) in exon 13 of the RDX gene, resulting in a frameshift and a truncated protein of 486 amino acids that would lack the actin-binding domain. The mutation was not identified in 200 ethnically matched chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 DEAFNESS, AUTOSOMAL RECESSIVE, 24</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RDX, GLN155TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918380,
|
|
|
|
|
|
|
|
ClinVar: RCV000014074
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with DFNB24 (611022), Khan et al. (2007) identified a homozygous 463C-T transition in exon 5 of the RDX gene, resulting in a gln155-to-ter (Q155X) substitution in the FERM domain. The mutation was not identified in 200 ethnically matched chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 DEAFNESS, AUTOSOMAL RECESSIVE, 24</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RDX, IVS7DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1191259480,
|
|
|
|
|
|
gnomAD: rs1191259480,
|
|
|
|
|
|
ClinVar: RCV000014075
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 affected members of a consanguineous Iranian family with DFNB24 (611022), Shearer et al. (2009) identified a homozygous G-to-A transition in intron 7 of the RDX gene (689+1G-A), predicted to result in premature termination following exon 7 or nonsense-mediated mRNA decay. Affected individuals had congenital onset of severe to profound hearing loss. The mutation was not identified in 53 Iranian and 133 European controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
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|
|
</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Faure, S., Salazar-Fontana, L. I., Semichon, M., Tybulewicz, V. L. J., Bismuth, G., Trautmann, A., Germain, R. N., Delon, J.
|
|
<strong>ERM proteins regulate cytoskeleton relaxation promoting T cell-APC conjugation.</strong>
|
|
Nature Immun. 5: 272-279, 2004.
|
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|
|
[PubMed: 14758359]
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|
|
[Full Text: https://doi.org/10.1038/ni1039]
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Khan, S. Y., Ahmed, Z. M., Shabbir, M. I., Kitajiri, S., Kalsoom, S., Tasneem, S., Shayiq, S., Ramesh, A., Srisailpathy, S., Khan, S. N., Smith, R. J. H., Riazuddin, S., Friedman, T. B., Riazuddin, S.
|
|
<strong>Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.</strong>
|
|
Hum. Mutat. 28: 417-423, 2007.
|
|
|
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|
|
[PubMed: 17226784]
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|
[Full Text: https://doi.org/10.1002/humu.20469]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Kikuchi, S., Hata, M., Fukumoto, K., Yamane, Y., Matsui, T., Tamura, A., Yonemura, S., Yamagishi, H., Keppler, D., Tsukita, S., Tsukita, S.
|
|
<strong>Radixin deficiency causes conjugated hyperbilirubinemia with loss of Mrp2 from bile canalicular membranes.</strong>
|
|
Nature Genet. 31: 320-325, 2002.
|
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|
|
[PubMed: 12068294]
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[Full Text: https://doi.org/10.1038/ng905]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kitajiri, S., Fukumoto, K., Hata, M., Sasaki, H., Katsuno, T., Nakagawa, T., Ito, J., Tsukita, S., Tsukita, S.
|
|
<strong>Radixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia.</strong>
|
|
J. Cell Biol. 166: 559-570, 2004.
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|
[PubMed: 15314067]
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[Full Text: https://doi.org/10.1083/jcb.200402007]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Pataky, F., Pironkova, R., Hudspeth, A. J.
|
|
<strong>Radixin is a constituent of stereocilia in hair cells.</strong>
|
|
Proc. Nat. Acad. Sci. 101: 2601-2606, 2004.
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|
[PubMed: 14983055]
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[Full Text: https://doi.org/10.1073/pnas.0308620100]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Shearer, A. E., Hildebrand, M. S., Bromhead, C. J., Kahrizi, K., Webster, J. A., Azadeh, B., Kimberling, W. J., Anousheh, A., Nazeri, A., Stephan, D., Najmabadi, H., Smith, R. J. H., Bahlo, M.
|
|
<strong>A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. (Letter)</strong>
|
|
Am. J. Med. Genet. 149A: 555-558, 2009.
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|
|
[PubMed: 19215054]
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[Full Text: https://doi.org/10.1002/ajmg.a.32670]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Wilgenbus, K. K., Milatovich, A., Francke, U., Furthmayr, H.
|
|
<strong>Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes.</strong>
|
|
Genomics 16: 199-206, 1993.
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|
|
[PubMed: 8486357]
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[Full Text: https://doi.org/10.1006/geno.1993.1159]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Contributors:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Cassandra L. Kniffin - updated : 5/14/2007<br>Patricia A. Hartz - updated : 3/16/2004<br>Paul J. Converse - updated : 2/13/2004<br>Victor A. McKusick - updated : 6/18/2002
|
|
</span>
|
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Victor A. McKusick : 5/4/1993
|
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</span>
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</div>
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</div>
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<div>
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<br />
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/25/2024<br>alopez : 03/22/2024<br>carol : 09/17/2013<br>wwang : 2/18/2010<br>ckniffin : 2/8/2010<br>wwang : 6/7/2007<br>wwang : 6/7/2007<br>ckniffin : 5/14/2007<br>mgross : 3/24/2004<br>terry : 3/16/2004<br>alopez : 3/1/2004<br>mgross : 2/13/2004<br>alopez : 7/25/2002<br>alopez : 6/20/2002<br>terry : 6/18/2002<br>carol : 4/15/1994<br>carol : 5/4/1993
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</span>
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</div>
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</div>
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</div>
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<div>
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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