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<title>
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Entry
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- *609761 - TRIO- AND F-ACTIN-BINDING PROTEIN; TRIOBP
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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="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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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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<ul class="dropdown-menu dropdown-menu-right">
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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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</ul>
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</div>
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<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
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</form>
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<p />
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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">*609761</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="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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</li>
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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 role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</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 role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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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/609761">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=ENSG00000100106;t=ENST00000644935" 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=11078" 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=609761" 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=ENSG00000100106;t=ENST00000644935" 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_001039141,NM_007032,NM_138632" 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_001039141" 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=609761" 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=11028&isoform_id=11028_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/TRIOBP" 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/3970872,12006358,13177667,13279176,19584412,39644673,81176579,81176581,81176583,88501738,88501740,88501741,90110075,119580585,119580586,119580587,119580588,119580589,119580590,1145587770" 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/Q9H2D6" 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=11078" 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=ENSG00000100106;t=ENST00000644935" 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=TRIOBP" 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=TRIOBP" 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+11078" 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/TRIOBP" 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:11078" 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/11078" 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=chr22&hgg_gene=ENST00000644935.1&hgg_start=37697048&hgg_end=37776556&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:17009" 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:17009" 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=609761[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=609761[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://www.deciphergenomics.org/gene/TRIOBP/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000100106" 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=TRIOBP" 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=TRIOBP" 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=TRIOBP" 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=TRIOBP&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/PA142670699" 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:17009" 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/FBgn0003016.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:1349410" 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/TRIOBP#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:1349410" 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/11078/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=11078" 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=WBGene00008666;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><a href="https://zfin.org/ZDB-GENE-061215-80" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</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="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:609761" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" 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="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://reactome.org/content/query?q=TRIOBP&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>
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609761
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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>
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<span class="mim-font">
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TRIO- AND F-ACTIN-BINDING PROTEIN; TRIOBP
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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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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TRIO- AND FILAMENTOUS-ACTIN-BINDING PROTEIN<br />
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TRIO-ASSOCIATED REPEAT ON ACTIN; TARA<br />
|
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KIAA1662
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</span>
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</h4>
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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>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TRIOBP" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TRIOBP</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>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/22/254?start=-3&limit=10&highlight=254">22q13.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr22:37697048-37776556&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'})">22:37,697,048-37,776,556</a> </span>
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Deafness, autosomal recessive 28
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<a href="/entry/609823"> 609823 </a>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/609761" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>Using a portion of TRIO (<a href="/entry/601893">601893</a>) as bait in a yeast interaction trap assay of a human fibroblast cDNA library, followed by screening a skeletal muscle cDNA library, <a href="#4" class="mim-tip-reference" title="Seipel, K., O'Brien, S. P., Iannotti, E., Medley, Q. G., Streuli, M. <strong>Tara, a novel F-actin binding protein, associates with the Trio guanine nucleotide exchange factor and regulates actin cytoskeletal organization.</strong> J. Cell Sci. 114: 389-399, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11148140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11148140</a>] [<a href="https://doi.org/10.1242/jcs.114.2.389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11148140">Seipel et al. (2001)</a> cloned TRIOBP, which they called TARA. TARA contains an N-terminal pleckstrin homology (PH) domain and a C-terminal coiled-coil region. Northern blot analysis detected broad expression of TARA, with highest levels in heart and placenta. The major transcript was 2.8 kb, and minor transcripts of 2.0 to 4.4 kb were present in several tissues. Western blot analysis of HeLa cell lysates detected endogenous TARA at an apparent molecular mass of 80 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11148140" 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>Both <a href="#5" class="mim-tip-reference" title="Shahin, H., Walsh, T., Sobe, T., Sa'ed, J. A., Rayan, A. A., Lynch, E. D., Lee, M. K., Avraham, K. B., King, M.-C., Kanaan, M. <strong>Mutations in a novel isoform of TRIOBP that encodes a filamentous-acting binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.</strong> Am. J. Hum. Genet. 78: 144-152, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385458[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/10.1086/499495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385458">Shahin et al. (2006)</a> and <a href="#3" class="mim-tip-reference" title="Riazuddin, S., Khan, S. N., Ahmed, Z. M., Ghosh, M., Caution, K., Nazli, S., Kabra, M., Zafar, A. U., Chen, K., Naz, S., Antonellis, A., Pavan, W. J., Green, E. D., Wilcox, E. R., Friedman, P. L., Morell, R. J., Riazuddin, S., Friedman, T. B. <strong>Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.</strong> Am. J. Hum. Genet. 78: 137-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385457[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/10.1086/499164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385457">Riazuddin et al. (2006)</a> described complex alternative splicing of the TRIOBP gene. <a href="#5" class="mim-tip-reference" title="Shahin, H., Walsh, T., Sobe, T., Sa'ed, J. A., Rayan, A. A., Lynch, E. D., Lee, M. K., Avraham, K. B., King, M.-C., Kanaan, M. <strong>Mutations in a novel isoform of TRIOBP that encodes a filamentous-acting binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.</strong> Am. J. Hum. Genet. 78: 144-152, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385458[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/10.1086/499495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385458">Shahin et al. (2006)</a> described a long isoform of 2,267 amino acids; the longest isoform found by <a href="#3" class="mim-tip-reference" title="Riazuddin, S., Khan, S. N., Ahmed, Z. M., Ghosh, M., Caution, K., Nazli, S., Kabra, M., Zafar, A. U., Chen, K., Naz, S., Antonellis, A., Pavan, W. J., Green, E. D., Wilcox, E. R., Friedman, P. L., Morell, R. J., Riazuddin, S., Friedman, T. B. <strong>Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.</strong> Am. J. Hum. Genet. 78: 137-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385457[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/10.1086/499164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385457">Riazuddin et al. (2006)</a> consisted of 2,365 amino acids. Depending on the isoform, TRIOBP has 5 copies each of 2 repeated motifs encoded by exon 6, a predicted PH domain, and 4 coiled-coil regions (<a href="#3" class="mim-tip-reference" title="Riazuddin, S., Khan, S. N., Ahmed, Z. M., Ghosh, M., Caution, K., Nazli, S., Kabra, M., Zafar, A. U., Chen, K., Naz, S., Antonellis, A., Pavan, W. J., Green, E. D., Wilcox, E. R., Friedman, P. L., Morell, R. J., Riazuddin, S., Friedman, T. B. <strong>Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.</strong> Am. J. Hum. Genet. 78: 137-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385457[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/10.1086/499164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385457">Riazuddin et al., 2006</a>). <a href="#5" class="mim-tip-reference" title="Shahin, H., Walsh, T., Sobe, T., Sa'ed, J. A., Rayan, A. A., Lynch, E. D., Lee, M. K., Avraham, K. B., King, M.-C., Kanaan, M. <strong>Mutations in a novel isoform of TRIOBP that encodes a filamentous-acting binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.</strong> Am. J. Hum. Genet. 78: 144-152, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385458[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/10.1086/499495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385458">Shahin et al. (2006)</a> observed expression of the TRIOBP long isoform in fetal brain, retina, and cochlea. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16385458+16385457" 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="Kitajiri, S., Sakamoto, T., Belyantseva, I. A., Goodyear, R. J., Stepanyan, R., Fujiwara, I., Bird, J. E., Riazuddin, S., Riazuddin, S., Ahmed, Z. M., Hinshaw, J. E., Sellers, J., Bartles, J. R., Hammer, J. A., III, Richardson, G. P., Griffith, A. J., Frolenkov, G. I., Friedman, T. B. <strong>Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing.</strong> Cell 141: 786-798, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20510926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20510926</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20510926[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/10.1016/j.cell.2010.03.049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20510926">Kitajiri et al. (2010)</a> stated that TRIOBP isoforms are produced through the use of 2 alternate promoters and can be grouped into 3 classes. The first TRIOBP5 is the longest transcript that utilize a distal promoter upstream of exon 1, terminate in exon 24, and has a molecular mass of 218-kD in humans. The second TRIOBP4 terminates after exon 6 and encodes a shorter protein product that contains the repeat motifs of exon 6 but none of the C domains of TRIOBP-5, and has a molecular mass of 107-kD. The third TRIOBP1 has a molecular mass of 72-kD, is initiated from a promoter downstream of exon 6, and encodes a protein that does not contain the N-terminal internal repeat motifs, but does include the C domains of TRIOBP5 encoded by exons 11 to 24. TRIOBP1 was the transcript identified by <a href="#4" class="mim-tip-reference" title="Seipel, K., O'Brien, S. P., Iannotti, E., Medley, Q. G., Streuli, M. <strong>Tara, a novel F-actin binding protein, associates with the Trio guanine nucleotide exchange factor and regulates actin cytoskeletal organization.</strong> J. Cell Sci. 114: 389-399, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11148140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11148140</a>] [<a href="https://doi.org/10.1242/jcs.114.2.389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11148140">Seipel et al. (2001)</a>. Thus, TRIOBP1 and TRIOBP4 share no exons or amino acid-coding sequence. TRIOBP1 shows ubiquitous expression, whereas TRIOBP4 and TRIOBP5 are expressed predominantly in the eye and inner ear. <a href="#2" class="mim-tip-reference" title="Kitajiri, S., Sakamoto, T., Belyantseva, I. A., Goodyear, R. J., Stepanyan, R., Fujiwara, I., Bird, J. E., Riazuddin, S., Riazuddin, S., Ahmed, Z. M., Hinshaw, J. E., Sellers, J., Bartles, J. R., Hammer, J. A., III, Richardson, G. P., Griffith, A. J., Frolenkov, G. I., Friedman, T. B. <strong>Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing.</strong> Cell 141: 786-798, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20510926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20510926</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20510926[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/10.1016/j.cell.2010.03.049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20510926">Kitajiri et al. (2010)</a> noted that, to date, all of the mutations of TRIOBP causing human deafness DFNB28 (<a href="/entry/609823">609823</a>) are located in exon 6 and only affect the TRIOBP4 and TRIOBP5 isoforms. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11148140+20510926" 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="Kitajiri, S., Sakamoto, T., Belyantseva, I. A., Goodyear, R. J., Stepanyan, R., Fujiwara, I., Bird, J. E., Riazuddin, S., Riazuddin, S., Ahmed, Z. M., Hinshaw, J. E., Sellers, J., Bartles, J. R., Hammer, J. A., III, Richardson, G. P., Griffith, A. J., Frolenkov, G. I., Friedman, T. B. <strong>Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing.</strong> Cell 141: 786-798, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20510926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20510926</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20510926[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/10.1016/j.cell.2010.03.049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20510926">Kitajiri et al. (2010)</a> noted that the TRIOBP gene contains 24 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20510926" 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>By genomic sequence analysis, <a href="#1" class="mim-tip-reference" title="Hirosawa, M., Nagase, T., Murahashi, Y., Kikuno, R., Ohara, O. <strong>Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping.</strong> DNA Res. 8: 1-9, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11258795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11258795</a>] [<a href="https://doi.org/10.1093/dnares/8.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11258795">Hirosawa et al. (2001)</a> mapped the TRIOBP gene to chromosome 22q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11258795" 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>Both <a href="#3" class="mim-tip-reference" title="Riazuddin, S., Khan, S. N., Ahmed, Z. M., Ghosh, M., Caution, K., Nazli, S., Kabra, M., Zafar, A. U., Chen, K., Naz, S., Antonellis, A., Pavan, W. J., Green, E. D., Wilcox, E. R., Friedman, P. L., Morell, R. J., Riazuddin, S., Friedman, T. B. <strong>Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.</strong> Am. J. Hum. Genet. 78: 137-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385457[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/10.1086/499164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385457">Riazuddin et al. (2006)</a> and <a href="#5" class="mim-tip-reference" title="Shahin, H., Walsh, T., Sobe, T., Sa'ed, J. A., Rayan, A. A., Lynch, E. D., Lee, M. K., Avraham, K. B., King, M.-C., Kanaan, M. <strong>Mutations in a novel isoform of TRIOBP that encodes a filamentous-acting binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.</strong> Am. J. Hum. Genet. 78: 144-152, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385458[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/10.1086/499495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385458">Shahin et al. (2006)</a> mapped a form of recessive nonsyndromic hearing loss, DFNB28 (<a href="/entry/609823">609823</a>), to 22q13.1 and demonstrated mutations in the TRIOBP gene, which resides in that region. Thus, they established the mapping of the TRIOBP gene to chromosome 22q13.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16385458+16385457" 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 several truncation mutants in protein interaction assays, <a href="#4" class="mim-tip-reference" title="Seipel, K., O'Brien, S. P., Iannotti, E., Medley, Q. G., Streuli, M. <strong>Tara, a novel F-actin binding protein, associates with the Trio guanine nucleotide exchange factor and regulates actin cytoskeletal organization.</strong> J. Cell Sci. 114: 389-399, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11148140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11148140</a>] [<a href="https://doi.org/10.1242/jcs.114.2.389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11148140">Seipel et al. (2001)</a> demonstrated that the N-terminal half of TARA interacted with the TRIO TGD1 domain, which regulates actin cytoskeletal organization, cell growth, and cell migration. The coiled-coil region of TARA was required for dimerization. TARA also associated with F-actin (see <a href="/entry/102610">102610</a>) through an N-terminal sequence, but it did not associate with intermediate filaments or microtubules. TARA localization along actin fibers showed periodicity, and TARA alternated with alpha-actinin (see ACTN1; <a href="/entry/102575">102575</a>) along actin fibers, particularly at the leading edge of the cell. Cells transiently or stably overexpressing TARA displayed an extensively flattened morphology with enhanced stress fibers and cortical F-actin. TARA expression did not directly alter cell attachment or initial cell spreading, but it altered the actin cytoskeleton to promote enhanced cell spreading. TARA also stabilized F-actin structures, as indicated by the relative resistance of TARA-expressing cells to an F-actin destabilizer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11148140" 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 mice, <a href="#2" class="mim-tip-reference" title="Kitajiri, S., Sakamoto, T., Belyantseva, I. A., Goodyear, R. J., Stepanyan, R., Fujiwara, I., Bird, J. E., Riazuddin, S., Riazuddin, S., Ahmed, Z. M., Hinshaw, J. E., Sellers, J., Bartles, J. R., Hammer, J. A., III, Richardson, G. P., Griffith, A. J., Frolenkov, G. I., Friedman, T. B. <strong>Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing.</strong> Cell 141: 786-798, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20510926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20510926</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20510926[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/10.1016/j.cell.2010.03.049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20510926">Kitajiri et al. (2010)</a> found Triobp5 staining at the base of stereocilia rootlets of cochlear hair cells beginning at postnatal days 1 to 2. Staining later extended along the mature rootlet in the cuticular plate, but not along the length of the stereocilia. Cosedimentation studies showed that Triobp4 bound to F-actin filaments in dense bundles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20510926" 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="#3" class="mim-tip-reference" title="Riazuddin, S., Khan, S. N., Ahmed, Z. M., Ghosh, M., Caution, K., Nazli, S., Kabra, M., Zafar, A. U., Chen, K., Naz, S., Antonellis, A., Pavan, W. J., Green, E. D., Wilcox, E. R., Friedman, P. L., Morell, R. J., Riazuddin, S., Friedman, T. B. <strong>Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.</strong> Am. J. Hum. Genet. 78: 137-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385457[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/10.1086/499164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385457">Riazuddin et al. (2006)</a> and <a href="#5" class="mim-tip-reference" title="Shahin, H., Walsh, T., Sobe, T., Sa'ed, J. A., Rayan, A. A., Lynch, E. D., Lee, M. K., Avraham, K. B., King, M.-C., Kanaan, M. <strong>Mutations in a novel isoform of TRIOBP that encodes a filamentous-acting binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.</strong> Am. J. Hum. Genet. 78: 144-152, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385458[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/10.1086/499495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385458">Shahin et al. (2006)</a> described mutations of the TRIOBP gene causing recessive nonsyndromic hearing loss designated DFNB28 (<a href="/entry/609823">609823</a>). <a href="#3" class="mim-tip-reference" title="Riazuddin, S., Khan, S. N., Ahmed, Z. M., Ghosh, M., Caution, K., Nazli, S., Kabra, M., Zafar, A. U., Chen, K., Naz, S., Antonellis, A., Pavan, W. J., Green, E. D., Wilcox, E. R., Friedman, P. L., Morell, R. J., Riazuddin, S., Friedman, T. B. <strong>Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.</strong> Am. J. Hum. Genet. 78: 137-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385457[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/10.1086/499164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385457">Riazuddin et al. (2006)</a> found 4 nonsense mutations and 2 frameshift mutations, all located in exon 6 of TRIOBP. Genetic heterogeneity at this locus was suggested by 5 additional families that showed significant evidence of linkage of deafness to markers on 22q13 but in whom no mutations in the TRIOBP gene were found. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16385458+16385457" 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>The mutations identified by <a href="#5" class="mim-tip-reference" title="Shahin, H., Walsh, T., Sobe, T., Sa'ed, J. A., Rayan, A. A., Lynch, E. D., Lee, M. K., Avraham, K. B., King, M.-C., Kanaan, M. <strong>Mutations in a novel isoform of TRIOBP that encodes a filamentous-acting binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.</strong> Am. J. Hum. Genet. 78: 144-152, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385458[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/10.1086/499495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385458">Shahin et al. (2006)</a> in 9 Palestinian families were located in a novel 218-kD isoform of TRIOBP. <a href="#5" class="mim-tip-reference" title="Shahin, H., Walsh, T., Sobe, T., Sa'ed, J. A., Rayan, A. A., Lynch, E. D., Lee, M. K., Avraham, K. B., King, M.-C., Kanaan, M. <strong>Mutations in a novel isoform of TRIOBP that encodes a filamentous-acting binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.</strong> Am. J. Hum. Genet. 78: 144-152, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385458[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/10.1086/499495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385458">Shahin et al. (2006)</a> demonstrated that this long isoform has a restricted expression profile, including cochlea, retina, and fetal brain, whereas the originally described short isoform is widely expressed. Antibodies to TRIOBP revealed expression in sensory cells of the inner ear and colocalization with F-actin along the length of the stereocilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16385458" 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="Kitajiri, S., Sakamoto, T., Belyantseva, I. A., Goodyear, R. J., Stepanyan, R., Fujiwara, I., Bird, J. E., Riazuddin, S., Riazuddin, S., Ahmed, Z. M., Hinshaw, J. E., Sellers, J., Bartles, J. R., Hammer, J. A., III, Richardson, G. P., Griffith, A. J., Frolenkov, G. I., Friedman, T. B. <strong>Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing.</strong> Cell 141: 786-798, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20510926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20510926</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20510926[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/10.1016/j.cell.2010.03.049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20510926">Kitajiri et al. (2010)</a> generated a Triobp4/5-deficient mouse recapitulating human DFNB28 deafness. Triobp1-null mice were embryonic lethal, suggesting an essential role in development for this isoform. In Triobp4/5-null mice, rootlets in inner ear hair cells failed to develop, resulting in normal-length stereocilia that were abnormally flexible at the pivot points and were easily damaged by overstimulation. Although mutant hair cells were still able to function in mechanoelectrical transduction prior to the onset of hearing, they were unlikely to have normal mechanosensitivity in vivo due to both decreased pivotal stiffness and increased fragility. The findings indicated that dense bundling of actin filaments by TRIOBP is essential for the biogenesis of rootlets that provide durable flexibility at the taper, and mechanical rigidity to the stereocilia bundle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20510926" 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> rs118204026 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204026;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/rs118204026?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=rs118204026" 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=rs118204026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In members of a Palestinian Orthodox Christian family with autosomal recessive deafness (DFNB28; <a href="/entry/609823">609823</a>), <a href="#5" class="mim-tip-reference" title="Shahin, H., Walsh, T., Sobe, T., Sa'ed, J. A., Rayan, A. A., Lynch, E. D., Lee, M. K., Avraham, K. B., King, M.-C., Kanaan, M. <strong>Mutations in a novel isoform of TRIOBP that encodes a filamentous-acting binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.</strong> Am. J. Hum. Genet. 78: 144-152, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385458[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/10.1086/499495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385458">Shahin et al. (2006)</a> found homozygosity for a 1039C-T transition in coding exon 5 of the long TRIOBP isoform. The mutation was predicted to cause an arg347-to-stop (R347X) nonsense mutation. The hearing loss was sensorineural, bilateral, symmetric, and profound. The family traced its ancestry since the mid-18th century to the area of Bethlehem and Beit Sahour in Israel. The R347X mutations was also found in 3 other families from the same Orthodox Christian community. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16385458" 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">rs118204027 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204027;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=rs118204027" 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=rs118204027" 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=RCV000001556 OR RCV004017219" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001556, RCV004017219" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001556...</a>
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<p>In 3 Palestinian Muslim families with autosomal recessive deafness (DFNB28; <a href="/entry/609823">609823</a>), <a href="#5" class="mim-tip-reference" title="Shahin, H., Walsh, T., Sobe, T., Sa'ed, J. A., Rayan, A. A., Lynch, E. D., Lee, M. K., Avraham, K. B., King, M.-C., Kanaan, M. <strong>Mutations in a novel isoform of TRIOBP that encodes a filamentous-acting binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.</strong> Am. J. Hum. Genet. 78: 144-152, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385458[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/10.1086/499495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385458">Shahin et al. (2006)</a> found homozygosity for a 1741C-T transition in exon 5 of the TRIOBP gene that was predicted to result in a gln581-to-ter mutation (Q581X). Both R347X and Q581X led to truncation of the long TRIOBP isoform but were predicted to have no effect on the short TRIOBP isoform, since the latter is transcribed from an alternate first exon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16385458" 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">rs118204028 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204028;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=rs118204028" 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=rs118204028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an Indian family with autosomal recessive deafness (DFNB28; <a href="/entry/609823">609823</a>), <a href="#3" class="mim-tip-reference" title="Riazuddin, S., Khan, S. N., Ahmed, Z. M., Ghosh, M., Caution, K., Nazli, S., Kabra, M., Zafar, A. U., Chen, K., Naz, S., Antonellis, A., Pavan, W. J., Green, E. D., Wilcox, E. R., Friedman, P. L., Morell, R. J., Riazuddin, S., Friedman, T. B. <strong>Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.</strong> Am. J. Hum. Genet. 78: 137-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385457[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/10.1086/499164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385457">Riazuddin et al. (2006)</a> found a nonsense mutation, gln297 to stop (Q297X), in exon 6 of the long isoform of TRIOBP. The mutation arose from a C-to-T transition at nucleotide 889. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16385457" 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>.0004 DEAFNESS, AUTOSOMAL RECESSIVE 28</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"><span class="text-primary">●</span> rs118204029 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204029;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/rs118204029?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=rs118204029" 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=rs118204029" 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=RCV000001558 OR RCV005089141" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001558, RCV005089141" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001558...</a>
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<p>In a Pakistani family, <a href="#3" class="mim-tip-reference" title="Riazuddin, S., Khan, S. N., Ahmed, Z. M., Ghosh, M., Caution, K., Nazli, S., Kabra, M., Zafar, A. U., Chen, K., Naz, S., Antonellis, A., Pavan, W. J., Green, E. D., Wilcox, E. R., Friedman, P. L., Morell, R. J., Riazuddin, S., Friedman, T. B. <strong>Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.</strong> Am. J. Hum. Genet. 78: 137-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385457[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/10.1086/499164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385457">Riazuddin et al. (2006)</a> found a nonsense mutation, arg788 to stop (R788X), in exon 6 of the long isoform of TRIOBP as the cause of nonsyndromic recessive deafness (DFNB28; <a href="/entry/609823">609823</a>). The mutation arose from a C-to-T transition at nucleotide 2362. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16385457" 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> rs118204030 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204030;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/rs118204030?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=rs118204030" 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=rs118204030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Pakistani family, <a href="#3" class="mim-tip-reference" title="Riazuddin, S., Khan, S. N., Ahmed, Z. M., Ghosh, M., Caution, K., Nazli, S., Kabra, M., Zafar, A. U., Chen, K., Naz, S., Antonellis, A., Pavan, W. J., Green, E. D., Wilcox, E. R., Friedman, P. L., Morell, R. J., Riazuddin, S., Friedman, T. B. <strong>Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.</strong> Am. J. Hum. Genet. 78: 137-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385457[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/10.1086/499164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385457">Riazuddin et al. (2006)</a> found a nonsense mutation, arg1068 to stop (R1068X), in exon 6 of the long isoform of TRIOBP as the cause of nonsyndromic recessive deafness (DFNB28; <a href="/entry/609823">609823</a>). The mutation arose from a C-to-T transition at nucleotide 3202. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16385457" 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>.0006 DEAFNESS, AUTOSOMAL RECESSIVE 28</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"><span class="text-primary">●</span> rs118204031 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204031;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/rs118204031?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=rs118204031" 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=rs118204031" 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=RCV000001560 OR RCV002460876" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001560, RCV002460876" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001560...</a>
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<p>In an Indian family, <a href="#3" class="mim-tip-reference" title="Riazuddin, S., Khan, S. N., Ahmed, Z. M., Ghosh, M., Caution, K., Nazli, S., Kabra, M., Zafar, A. U., Chen, K., Naz, S., Antonellis, A., Pavan, W. J., Green, E. D., Wilcox, E. R., Friedman, P. L., Morell, R. J., Riazuddin, S., Friedman, T. B. <strong>Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.</strong> Am. J. Hum. Genet. 78: 137-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385457[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/10.1086/499164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385457">Riazuddin et al. (2006)</a> found a nonsense mutation, arg1117 to stop (R1117X), in exon 6 of the long isoform of TRIOBP as the cause of nonsyndromic recessive deafness (DFNB28; <a href="/entry/609823">609823</a>). The mutation arose from a C-to-T transition at nucleotide 3349. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16385457" 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>.0007 DEAFNESS, AUTOSOMAL RECESSIVE 28</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">rs1601632909 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1601632909;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=rs1601632909" 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=rs1601632909" 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=RCV000001561" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001561" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001561</a>
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<p>In an Indian family, <a href="#3" class="mim-tip-reference" title="Riazuddin, S., Khan, S. N., Ahmed, Z. M., Ghosh, M., Caution, K., Nazli, S., Kabra, M., Zafar, A. U., Chen, K., Naz, S., Antonellis, A., Pavan, W. J., Green, E. D., Wilcox, E. R., Friedman, P. L., Morell, R. J., Riazuddin, S., Friedman, T. B. <strong>Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.</strong> Am. J. Hum. Genet. 78: 137-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385457[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/10.1086/499164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385457">Riazuddin et al. (2006)</a> found that nonsyndromic recessive deafness (DFNB28; <a href="/entry/609823">609823</a>) was caused by a 2-bp deletion, 3202_3203delCG (Asp1069fsTer1082), in the TRIOBP gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16385457" 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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TRIOBP, 1-BP INS, 3225C
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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> rs768625959 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs768625959;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/rs768625959?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=rs768625959" 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=rs768625959" 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=RCV001337107 OR RCV004017820 OR RCV004719138" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001337107, RCV004017820, RCV004719138" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001337107...</a>
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<p>In 2 Indian families, <a href="#3" class="mim-tip-reference" title="Riazuddin, S., Khan, S. N., Ahmed, Z. M., Ghosh, M., Caution, K., Nazli, S., Kabra, M., Zafar, A. U., Chen, K., Naz, S., Antonellis, A., Pavan, W. J., Green, E. D., Wilcox, E. R., Friedman, P. L., Morell, R. J., Riazuddin, S., Friedman, T. B. <strong>Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.</strong> Am. J. Hum. Genet. 78: 137-142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385457[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/10.1086/499164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385457">Riazuddin et al. (2006)</a> found that individuals with nonsyndromic recessive deafness (DFNB28; <a href="/entry/609823">609823</a>) had a frameshift mutation of the TRIOBP gene: 3225_3226insC. The mutation caused a frameshift at arg1078 with a premature termination at residue 1083 (Arg1078fsTer1083). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16385457" 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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Hirosawa, M., Nagase, T., Murahashi, Y., Kikuno, R., Ohara, O.
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<strong>Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping.</strong>
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DNA Res. 8: 1-9, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11258795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11258795</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11258795" 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/10.1093/dnares/8.1.1" target="_blank">Full Text</a>]
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Kitajiri, S., Sakamoto, T., Belyantseva, I. A., Goodyear, R. J., Stepanyan, R., Fujiwara, I., Bird, J. E., Riazuddin, S., Riazuddin, S., Ahmed, Z. M., Hinshaw, J. E., Sellers, J., Bartles, J. R., Hammer, J. A., III, Richardson, G. P., Griffith, A. J., Frolenkov, G. I., Friedman, T. B.
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<strong>Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing.</strong>
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Cell 141: 786-798, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20510926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20510926</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20510926[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=20510926" 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/10.1016/j.cell.2010.03.049" target="_blank">Full Text</a>]
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Riazuddin, S., Khan, S. N., Ahmed, Z. M., Ghosh, M., Caution, K., Nazli, S., Kabra, M., Zafar, A. U., Chen, K., Naz, S., Antonellis, A., Pavan, W. J., Green, E. D., Wilcox, E. R., Friedman, P. L., Morell, R. J., Riazuddin, S., Friedman, T. B.
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<strong>Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.</strong>
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Am. J. Hum. Genet. 78: 137-142, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385457[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=16385457" 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/10.1086/499164" target="_blank">Full Text</a>]
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Seipel, K., O'Brien, S. P., Iannotti, E., Medley, Q. G., Streuli, M.
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<strong>Tara, a novel F-actin binding protein, associates with the Trio guanine nucleotide exchange factor and regulates actin cytoskeletal organization.</strong>
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J. Cell Sci. 114: 389-399, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11148140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11148140</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11148140" 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/10.1242/jcs.114.2.389" target="_blank">Full Text</a>]
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Shahin, H., Walsh, T., Sobe, T., Sa'ed, J. A., Rayan, A. A., Lynch, E. D., Lee, M. K., Avraham, K. B., King, M.-C., Kanaan, M.
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<strong>Mutations in a novel isoform of TRIOBP that encodes a filamentous-acting binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.</strong>
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Am. J. Hum. Genet. 78: 144-152, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385458[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=16385458" 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/10.1086/499495" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 6/25/2010
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Victor A. McKusick - updated : 1/3/2006
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<span class="mim-text-font">
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carol : 11/27/2017
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</span>
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</div>
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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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carol : 10/20/2016<br>wwang : 07/07/2010<br>ckniffin : 6/25/2010<br>alopez : 1/10/2006<br>terry : 1/3/2006<br>mgross : 12/9/2005
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<h3>
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<span class="mim-font">
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<strong>*</strong> 609761
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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TRIO- AND F-ACTIN-BINDING PROTEIN; TRIOBP
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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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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TRIO- AND FILAMENTOUS-ACTIN-BINDING PROTEIN<br />
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TRIO-ASSOCIATED REPEAT ON ACTIN; TARA<br />
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KIAA1662
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</span>
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</h4>
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</div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TRIOBP</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 22q13.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 22:37,697,048-37,776,556 </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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<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-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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22q13.1
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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 28
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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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609823
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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>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>Using a portion of TRIO (601893) as bait in a yeast interaction trap assay of a human fibroblast cDNA library, followed by screening a skeletal muscle cDNA library, Seipel et al. (2001) cloned TRIOBP, which they called TARA. TARA contains an N-terminal pleckstrin homology (PH) domain and a C-terminal coiled-coil region. Northern blot analysis detected broad expression of TARA, with highest levels in heart and placenta. The major transcript was 2.8 kb, and minor transcripts of 2.0 to 4.4 kb were present in several tissues. Western blot analysis of HeLa cell lysates detected endogenous TARA at an apparent molecular mass of 80 kD. </p><p>Both Shahin et al. (2006) and Riazuddin et al. (2006) described complex alternative splicing of the TRIOBP gene. Shahin et al. (2006) described a long isoform of 2,267 amino acids; the longest isoform found by Riazuddin et al. (2006) consisted of 2,365 amino acids. Depending on the isoform, TRIOBP has 5 copies each of 2 repeated motifs encoded by exon 6, a predicted PH domain, and 4 coiled-coil regions (Riazuddin et al., 2006). Shahin et al. (2006) observed expression of the TRIOBP long isoform in fetal brain, retina, and cochlea. </p><p>Kitajiri et al. (2010) stated that TRIOBP isoforms are produced through the use of 2 alternate promoters and can be grouped into 3 classes. The first TRIOBP5 is the longest transcript that utilize a distal promoter upstream of exon 1, terminate in exon 24, and has a molecular mass of 218-kD in humans. The second TRIOBP4 terminates after exon 6 and encodes a shorter protein product that contains the repeat motifs of exon 6 but none of the C domains of TRIOBP-5, and has a molecular mass of 107-kD. The third TRIOBP1 has a molecular mass of 72-kD, is initiated from a promoter downstream of exon 6, and encodes a protein that does not contain the N-terminal internal repeat motifs, but does include the C domains of TRIOBP5 encoded by exons 11 to 24. TRIOBP1 was the transcript identified by Seipel et al. (2001). Thus, TRIOBP1 and TRIOBP4 share no exons or amino acid-coding sequence. TRIOBP1 shows ubiquitous expression, whereas TRIOBP4 and TRIOBP5 are expressed predominantly in the eye and inner ear. Kitajiri et al. (2010) noted that, to date, all of the mutations of TRIOBP causing human deafness DFNB28 (609823) are located in exon 6 and only affect the TRIOBP4 and TRIOBP5 isoforms. </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 Structure</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>Kitajiri et al. (2010) noted that the TRIOBP gene contains 24 exons. </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>By genomic sequence analysis, Hirosawa et al. (2001) mapped the TRIOBP gene to chromosome 22q. </p><p>Both Riazuddin et al. (2006) and Shahin et al. (2006) mapped a form of recessive nonsyndromic hearing loss, DFNB28 (609823), to 22q13.1 and demonstrated mutations in the TRIOBP gene, which resides in that region. Thus, they established the mapping of the TRIOBP gene to chromosome 22q13.1. </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 several truncation mutants in protein interaction assays, Seipel et al. (2001) demonstrated that the N-terminal half of TARA interacted with the TRIO TGD1 domain, which regulates actin cytoskeletal organization, cell growth, and cell migration. The coiled-coil region of TARA was required for dimerization. TARA also associated with F-actin (see 102610) through an N-terminal sequence, but it did not associate with intermediate filaments or microtubules. TARA localization along actin fibers showed periodicity, and TARA alternated with alpha-actinin (see ACTN1; 102575) along actin fibers, particularly at the leading edge of the cell. Cells transiently or stably overexpressing TARA displayed an extensively flattened morphology with enhanced stress fibers and cortical F-actin. TARA expression did not directly alter cell attachment or initial cell spreading, but it altered the actin cytoskeleton to promote enhanced cell spreading. TARA also stabilized F-actin structures, as indicated by the relative resistance of TARA-expressing cells to an F-actin destabilizer. </p><p>In mice, Kitajiri et al. (2010) found Triobp5 staining at the base of stereocilia rootlets of cochlear hair cells beginning at postnatal days 1 to 2. Staining later extended along the mature rootlet in the cuticular plate, but not along the length of the stereocilia. Cosedimentation studies showed that Triobp4 bound to F-actin filaments in dense bundles. </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>Riazuddin et al. (2006) and Shahin et al. (2006) described mutations of the TRIOBP gene causing recessive nonsyndromic hearing loss designated DFNB28 (609823). Riazuddin et al. (2006) found 4 nonsense mutations and 2 frameshift mutations, all located in exon 6 of TRIOBP. Genetic heterogeneity at this locus was suggested by 5 additional families that showed significant evidence of linkage of deafness to markers on 22q13 but in whom no mutations in the TRIOBP gene were found. </p><p>The mutations identified by Shahin et al. (2006) in 9 Palestinian families were located in a novel 218-kD isoform of TRIOBP. Shahin et al. (2006) demonstrated that this long isoform has a restricted expression profile, including cochlea, retina, and fetal brain, whereas the originally described short isoform is widely expressed. Antibodies to TRIOBP revealed expression in sensory cells of the inner ear and colocalization with F-actin along the length of the stereocilia. </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>Kitajiri et al. (2010) generated a Triobp4/5-deficient mouse recapitulating human DFNB28 deafness. Triobp1-null mice were embryonic lethal, suggesting an essential role in development for this isoform. In Triobp4/5-null mice, rootlets in inner ear hair cells failed to develop, resulting in normal-length stereocilia that were abnormally flexible at the pivot points and were easily damaged by overstimulation. Although mutant hair cells were still able to function in mechanoelectrical transduction prior to the onset of hearing, they were unlikely to have normal mechanosensitivity in vivo due to both decreased pivotal stiffness and increased fragility. The findings indicated that dense bundling of actin filaments by TRIOBP is essential for the biogenesis of rootlets that provide durable flexibility at the taper, and mechanical rigidity to the stereocilia bundle. </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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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>8 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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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>.0001 DEAFNESS, AUTOSOMAL RECESSIVE 28</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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TRIOBP, ARG347TER
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<br />
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SNP: rs118204026,
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gnomAD: rs118204026,
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ClinVar: RCV000001555, RCV000727382
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In members of a Palestinian Orthodox Christian family with autosomal recessive deafness (DFNB28; 609823), Shahin et al. (2006) found homozygosity for a 1039C-T transition in coding exon 5 of the long TRIOBP isoform. The mutation was predicted to cause an arg347-to-stop (R347X) nonsense mutation. The hearing loss was sensorineural, bilateral, symmetric, and profound. The family traced its ancestry since the mid-18th century to the area of Bethlehem and Beit Sahour in Israel. The R347X mutations was also found in 3 other families from the same Orthodox Christian community. </p>
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</span>
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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>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 DEAFNESS, AUTOSOMAL RECESSIVE 28</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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TRIOBP, GLN581TER
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<br />
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SNP: rs118204027,
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ClinVar: RCV000001556, RCV004017219
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 Palestinian Muslim families with autosomal recessive deafness (DFNB28; 609823), Shahin et al. (2006) found homozygosity for a 1741C-T transition in exon 5 of the TRIOBP gene that was predicted to result in a gln581-to-ter mutation (Q581X). Both R347X and Q581X led to truncation of the long TRIOBP isoform but were predicted to have no effect on the short TRIOBP isoform, since the latter is transcribed from an alternate first exon. </p>
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</span>
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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>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 DEAFNESS, AUTOSOMAL RECESSIVE 28</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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TRIOBP, GLN297TER
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<br />
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SNP: rs118204028,
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ClinVar: RCV000001557
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an Indian family with autosomal recessive deafness (DFNB28; 609823), Riazuddin et al. (2006) found a nonsense mutation, gln297 to stop (Q297X), in exon 6 of the long isoform of TRIOBP. The mutation arose from a C-to-T transition at nucleotide 889. </p>
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</span>
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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>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0004 DEAFNESS, AUTOSOMAL RECESSIVE 28</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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TRIOBP, ARG788TER
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<br />
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SNP: rs118204029,
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gnomAD: rs118204029,
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ClinVar: RCV000001558, RCV005089141
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Pakistani family, Riazuddin et al. (2006) found a nonsense mutation, arg788 to stop (R788X), in exon 6 of the long isoform of TRIOBP as the cause of nonsyndromic recessive deafness (DFNB28; 609823). The mutation arose from a C-to-T transition at nucleotide 2362. </p>
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</span>
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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>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 DEAFNESS, AUTOSOMAL RECESSIVE 28</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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TRIOBP, ARG1068TER
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<br />
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SNP: rs118204030,
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gnomAD: rs118204030,
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ClinVar: RCV000001559
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Pakistani family, Riazuddin et al. (2006) found a nonsense mutation, arg1068 to stop (R1068X), in exon 6 of the long isoform of TRIOBP as the cause of nonsyndromic recessive deafness (DFNB28; 609823). The mutation arose from a C-to-T transition at nucleotide 3202. </p>
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</span>
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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>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 DEAFNESS, AUTOSOMAL RECESSIVE 28</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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TRIOBP, ARG1117TER
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<br />
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SNP: rs118204031,
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gnomAD: rs118204031,
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ClinVar: RCV000001560, RCV002460876
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an Indian family, Riazuddin et al. (2006) found a nonsense mutation, arg1117 to stop (R1117X), in exon 6 of the long isoform of TRIOBP as the cause of nonsyndromic recessive deafness (DFNB28; 609823). The mutation arose from a C-to-T transition at nucleotide 3349. </p>
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</span>
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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>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 DEAFNESS, AUTOSOMAL RECESSIVE 28</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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TRIOBP, 2-BP DEL, 3202CG
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<br />
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SNP: rs1601632909,
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ClinVar: RCV000001561
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an Indian family, Riazuddin et al. (2006) found that nonsyndromic recessive deafness (DFNB28; 609823) was caused by a 2-bp deletion, 3202_3203delCG (Asp1069fsTer1082), in the TRIOBP gene. </p>
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</span>
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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>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 DEAFNESS, AUTOSOMAL RECESSIVE 28</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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TRIOBP, 1-BP INS, 3225C
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<br />
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SNP: rs768625959,
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gnomAD: rs768625959,
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ClinVar: RCV001337107, RCV004017820, RCV004719138
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In 2 Indian families, Riazuddin et al. (2006) found that individuals with nonsyndromic recessive deafness (DFNB28; 609823) had a frameshift mutation of the TRIOBP gene: 3225_3226insC. The mutation caused a frameshift at arg1078 with a premature termination at residue 1083 (Arg1078fsTer1083). </p>
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</span>
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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>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Hirosawa, M., Nagase, T., Murahashi, Y., Kikuno, R., Ohara, O.
|
|
<strong>Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping.</strong>
|
|
DNA Res. 8: 1-9, 2001.
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|
|
[PubMed: 11258795]
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[Full Text: https://doi.org/10.1093/dnares/8.1.1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kitajiri, S., Sakamoto, T., Belyantseva, I. A., Goodyear, R. J., Stepanyan, R., Fujiwara, I., Bird, J. E., Riazuddin, S., Riazuddin, S., Ahmed, Z. M., Hinshaw, J. E., Sellers, J., Bartles, J. R., Hammer, J. A., III, Richardson, G. P., Griffith, A. J., Frolenkov, G. I., Friedman, T. B.
|
|
<strong>Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing.</strong>
|
|
Cell 141: 786-798, 2010.
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|
|
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|
|
[PubMed: 20510926]
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|
|
[Full Text: https://doi.org/10.1016/j.cell.2010.03.049]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Riazuddin, S., Khan, S. N., Ahmed, Z. M., Ghosh, M., Caution, K., Nazli, S., Kabra, M., Zafar, A. U., Chen, K., Naz, S., Antonellis, A., Pavan, W. J., Green, E. D., Wilcox, E. R., Friedman, P. L., Morell, R. J., Riazuddin, S., Friedman, T. B.
|
|
<strong>Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.</strong>
|
|
Am. J. Hum. Genet. 78: 137-142, 2006.
|
|
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|
|
[PubMed: 16385457]
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|
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|
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[Full Text: https://doi.org/10.1086/499164]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Seipel, K., O'Brien, S. P., Iannotti, E., Medley, Q. G., Streuli, M.
|
|
<strong>Tara, a novel F-actin binding protein, associates with the Trio guanine nucleotide exchange factor and regulates actin cytoskeletal organization.</strong>
|
|
J. Cell Sci. 114: 389-399, 2001.
|
|
|
|
|
|
[PubMed: 11148140]
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|
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[Full Text: https://doi.org/10.1242/jcs.114.2.389]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Shahin, H., Walsh, T., Sobe, T., Sa'ed, J. A., Rayan, A. A., Lynch, E. D., Lee, M. K., Avraham, K. B., King, M.-C., Kanaan, M.
|
|
<strong>Mutations in a novel isoform of TRIOBP that encodes a filamentous-acting binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.</strong>
|
|
Am. J. Hum. Genet. 78: 144-152, 2006.
|
|
|
|
|
|
[PubMed: 16385458]
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|
|
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|
|
[Full Text: https://doi.org/10.1086/499495]
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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 : 6/25/2010<br>Victor A. McKusick - updated : 1/3/2006
|
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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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<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">
|
|
Patricia A. Hartz : 12/8/2005
|
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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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Edit History:
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<span class="mim-text-font">
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carol : 11/27/2017<br>carol : 10/20/2016<br>wwang : 07/07/2010<br>ckniffin : 6/25/2010<br>alopez : 1/10/2006<br>terry : 1/3/2006<br>mgross : 12/9/2005
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