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<title>
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Entry
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- *613072 - LIPOXYGENASE HOMOLOGY DOMAIN-CONTAINING 1; LOXHD1
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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>
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<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
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</div>
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</form>
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<p />
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<div id="mimAlertBanner">
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*613072</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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li 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/613072">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=ENSG00000167210;t=ENST00000642948" 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=125336" 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=613072" 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=ENSG00000167210;t=ENST00000642948" 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_001145472,NM_001145473,NM_001173129,NM_001308013,NM_001384474,NM_144612,XM_006722388,XM_006722391,XM_011525804,XM_011525810,XM_011525811,XM_024451085,XM_024451086,XM_024451088,XM_047437289,XM_047437290,XM_047437291,XM_047437292,XM_047437293,XM_047437294,XM_047437295" 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_001384474" 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=613072" 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=08316&isoform_id=08316_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/LOXHD1" 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/16552842,27469423,28838367,119621882,119621883,119621884,119621885,221044092,221044288,224458288,224458290,239050813,290542348,444733285,578832318,578832324,767998176,767998192,767998194,808688336,1370473101,1370473103,1370473107,1476413395,1859374385,2217316117,2217316119,2217316121,2217316123,2217316126,2217316128,2217316131,2462559552,2462559554,2462559556,2462559558,2462559560,2462559562,2462559564,2462559566,2462559568,2462559570,2462559572,2462559574,2462559576,2462559578,2462559580,2462559582" 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/Q8IVV2" 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=125336" 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=ENSG00000167210;t=ENST00000642948" 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=LOXHD1" 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=LOXHD1" 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+125336" 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/LOXHD1" 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:125336" 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/125336" 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=chr18&hgg_gene=ENST00000642948.1&hgg_start=46476961&hgg_end=46657220&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:26521" 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:26521" 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=613072[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=613072[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/LOXHD1/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/ENSG00000167210" 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=LOXHD1" 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=LOXHD1" 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=LOXHD1" 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=LOXHD1&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/PA134878065" 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:26521" 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://www.mousephenotype.org/data/genes/MGI:1914609" 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/LOXHD1#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:1914609" 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/125336/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://omia.org/OMIA002336/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=125336" 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=WBGene00017858;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-081104-370" 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="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=LOXHD1&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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613072
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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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LIPOXYGENASE HOMOLOGY DOMAIN-CONTAINING 1; LOXHD1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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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=LOXHD1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LOXHD1</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/18/162?start=-3&limit=10&highlight=162">18q21.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr18:46476961-46657220&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'})">18:46,476,961-46,657,220</a> </span>
|
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</em>
|
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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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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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover 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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<a href="/geneMap/18/162?start=-3&limit=10&highlight=162">
|
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18q21.1
|
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</a>
|
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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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<p><a href="#2" class="mim-tip-reference" title="Grillet, N., Schwander, M., Hildebrand, M. S., Sczaniecka, A., Kolatkar, A., Velasco, J., Webster, J. A., Kahrizi, K., Najmabadi, H., Kimberling, W. J., Stephan, D., Bahlo, M., Wiltshire, T., Tarantino, L. M., Kuhn, P., Smith, R. J. H., Muller, U. <strong>Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.</strong> Am. J. Hum. Genet. 85: 328-337, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732867[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.ajhg.2009.07.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732867">Grillet et al. (2009)</a> cloned mouse Loxhd1, and by database analysis, they identified human LOXHD1. They also cloned a splice variant of Loxhd1 from a mouse inner ear cDNA library, which encodes a deduced 2,068-amino acid mouse protein made up of 15 polycystin (see <a href="/entry/601313">601313</a>)/lipoxygenase (see <a href="/entry/607206">607206</a>)/alpha-toxin (PLAT) domains. PLAT domains are about 120 amino acids long, form a beta-sandwich consisting of 2 sheets of 4 strands each, and appear to function in plasma membrane targeting. <a href="#2" class="mim-tip-reference" title="Grillet, N., Schwander, M., Hildebrand, M. S., Sczaniecka, A., Kolatkar, A., Velasco, J., Webster, J. A., Kahrizi, K., Najmabadi, H., Kimberling, W. J., Stephan, D., Bahlo, M., Wiltshire, T., Tarantino, L. M., Kuhn, P., Smith, R. J. H., Muller, U. <strong>Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.</strong> Am. J. Hum. Genet. 85: 328-337, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732867[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.ajhg.2009.07.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732867">Grillet et al. (2009)</a> identified LOXHD1 orthologs in vertebrates, cephalochordates, and urochordates, but not in arthropods or nematode. In situ hybridization detected Loxhd1 expression in the developing mouse inner ear at embryonic days 13.5 and 16, but not in any other tissue. At postnatal day 4, expression was detected in cochlear and vestibular hair cells, with highest concentration in the nucleus. Loxhd1 progressively localized to the cytoplasm, and in the adult, Loxhd1 was expressed in hair cells along the length of stereocilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19732867" 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="#3" class="mim-tip-reference" title="Riazuddin, S. A., Parker, D. S., McGlumphy, E. J., Oh, E. C., Iliff, B. W., Schmedt, T., Jurkunas, U., Schleif, R., Katsanis, N., Gottsch, J. D. <strong>Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.</strong> Am. J. Hum. Genet. 90: 533-539, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22341973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22341973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22341973[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.ajhg.2012.01.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22341973">Riazuddin et al. (2012)</a> detected expression of LOXHD1 in cultured human corneal endothelial cells. In mouse corneas at postnatal day 120, Loxhd1 was detected both in the corneal epithelium and in the endothelium, but with significantly higher expression in epithelial cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22341973" 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>Based on conservation between the mouse and human LOXHD1 genes, <a href="#2" class="mim-tip-reference" title="Grillet, N., Schwander, M., Hildebrand, M. S., Sczaniecka, A., Kolatkar, A., Velasco, J., Webster, J. A., Kahrizi, K., Najmabadi, H., Kimberling, W. J., Stephan, D., Bahlo, M., Wiltshire, T., Tarantino, L. M., Kuhn, P., Smith, R. J. H., Muller, U. <strong>Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.</strong> Am. J. Hum. Genet. 85: 328-337, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732867[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.ajhg.2009.07.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732867">Grillet et al. (2009)</a> determined that the LOXHD1 gene contains at least 43 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19732867" 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="#2" class="mim-tip-reference" title="Grillet, N., Schwander, M., Hildebrand, M. S., Sczaniecka, A., Kolatkar, A., Velasco, J., Webster, J. A., Kahrizi, K., Najmabadi, H., Kimberling, W. J., Stephan, D., Bahlo, M., Wiltshire, T., Tarantino, L. M., Kuhn, P., Smith, R. J. H., Muller, U. <strong>Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.</strong> Am. J. Hum. Genet. 85: 328-337, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732867[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.ajhg.2009.07.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732867">Grillet et al. (2009)</a> mapped the LOXHD1 gene to chromosome 18q12-q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19732867" 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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In a 5-generation consanguineous Iranian family with nonsyndromic hearing loss mapping to chromosome 18q12-q21 (DFNB77; <a href="/entry/613079">613079</a>), <a href="#2" class="mim-tip-reference" title="Grillet, N., Schwander, M., Hildebrand, M. S., Sczaniecka, A., Kolatkar, A., Velasco, J., Webster, J. A., Kahrizi, K., Najmabadi, H., Kimberling, W. J., Stephan, D., Bahlo, M., Wiltshire, T., Tarantino, L. M., Kuhn, P., Smith, R. J. H., Muller, U. <strong>Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.</strong> Am. J. Hum. Genet. 85: 328-337, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732867[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.ajhg.2009.07.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732867">Grillet et al. (2009)</a> sequenced the LOXHD1 gene and identified a homozygous mutation (R670X; <a href="#0001">613072.0001</a>) in all affected family members tested. Unaffected family members were heterozygous for the mutation, which was not found in 243 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19732867" 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 9 affected children from 2 unrelated Ashkenazi Jewish families with severe to profound congenital nonprogressive nonsyndromic hearing loss in which linkage to the GJB2 (<a href="/entry/121011">121011</a>)/GJB6 (<a href="/entry/604418">604418</a>) genes had been excluded, <a href="#1" class="mim-tip-reference" title="Edvardson, S., Jalas, C., Shaag, A., Zenvirt, S., Landau, C., Lerer, I., Elpeleg, O. <strong>A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.</strong> Am. J. Med. Genet. 155A: 1170-1172, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21465660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21465660</a>] [<a href="https://doi.org/10.1002/ajmg.a.33972" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21465660">Edvardson et al. (2011)</a> identified homozygosity for a nonsense mutation in the LOXHD1 gene (R1572X; <a href="#0002">613072.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21465660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible role of variation in the LOXHD1 gene in Fuchs endothelial corneal dystrophy mapping to chromosome 18q21 (FECD3; <a href="/entry/613267">613267</a>), see <a href="#0003">613072.0003</a>.</p>
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<p>Using an N-ethyl-N-nitrosourea (ENU) mutagenesis screen, <a href="#2" class="mim-tip-reference" title="Grillet, N., Schwander, M., Hildebrand, M. S., Sczaniecka, A., Kolatkar, A., Velasco, J., Webster, J. A., Kahrizi, K., Najmabadi, H., Kimberling, W. J., Stephan, D., Bahlo, M., Wiltshire, T., Tarantino, L. M., Kuhn, P., Smith, R. J. H., Muller, U. <strong>Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.</strong> Am. J. Hum. Genet. 85: 328-337, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732867[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.ajhg.2009.07.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732867">Grillet et al. (2009)</a> developed the 'samba' mouse line that becomes hearing impaired by 3 weeks of age and deaf by 8 weeks of age. Homozygous samba mice showed no other neurologic or vestibular abnormalities, and heterozygous samba mice appeared completely normal. Stereociliary development was not affected in homozygous samba mice, but hair cell function was perturbed and hair cells eventually degenerated. <a href="#2" class="mim-tip-reference" title="Grillet, N., Schwander, M., Hildebrand, M. S., Sczaniecka, A., Kolatkar, A., Velasco, J., Webster, J. A., Kahrizi, K., Najmabadi, H., Kimberling, W. J., Stephan, D., Bahlo, M., Wiltshire, T., Tarantino, L. M., Kuhn, P., Smith, R. J. H., Muller, U. <strong>Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.</strong> Am. J. Hum. Genet. 85: 328-337, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732867[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.ajhg.2009.07.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732867">Grillet et al. (2009)</a> found that samba was a mutation in the mouse Loxhd1 gene that destabilized the beta-sandwich structure of PLAT domain 10. The mutation did not alter mRNA or protein stability or localization of Loxhd1 protein along the length of stereocilia. However, by postnatal day 21, some hair cells showed morphologic defects with fused stereocilia and membrane ruffling at the apical cell surface. Profound degenerative changes were obvious by postnatal day 90, including hair cell loss and a reduction in spiral ganglion neurons. <a href="#2" class="mim-tip-reference" title="Grillet, N., Schwander, M., Hildebrand, M. S., Sczaniecka, A., Kolatkar, A., Velasco, J., Webster, J. A., Kahrizi, K., Najmabadi, H., Kimberling, W. J., Stephan, D., Bahlo, M., Wiltshire, T., Tarantino, L. M., Kuhn, P., Smith, R. J. H., Muller, U. <strong>Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.</strong> Am. J. Hum. Genet. 85: 328-337, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732867[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.ajhg.2009.07.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732867">Grillet et al. (2009)</a> hypothesized that the degeneration of spiral ganglion neurons was likely secondary to perturbations in the function and maintenance of hair cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19732867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>3 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=613072[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 DEAFNESS, AUTOSOMAL RECESSIVE 77</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> rs121918370 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918370;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/rs121918370?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=rs121918370" 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=rs121918370" 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=RCV000000426 OR RCV000726554 OR RCV003398397" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000426, RCV000726554, RCV003398397" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000426...</a>
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<p>In affected members of a 5-generation consanguineous Iranian family segregating autosomal recessive nonsyndromic hearing loss (DFNB77; <a href="/entry/613079">613079</a>), <a href="#2" class="mim-tip-reference" title="Grillet, N., Schwander, M., Hildebrand, M. S., Sczaniecka, A., Kolatkar, A., Velasco, J., Webster, J. A., Kahrizi, K., Najmabadi, H., Kimberling, W. J., Stephan, D., Bahlo, M., Wiltshire, T., Tarantino, L. M., Kuhn, P., Smith, R. J. H., Muller, U. <strong>Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.</strong> Am. J. Hum. Genet. 85: 328-337, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732867[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.ajhg.2009.07.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732867">Grillet et al. (2009)</a> identified homozygosity for a 2008C-T transition in exon 15 of the LOXHD1 gene, resulting in an arg670-to-ter (R670X) substitution at a conserved residue in the C-terminal end of the fifth PLAT domain, predicted to result in either a severely truncated protein or nonsense-mediated mRNA decay. Unaffected members of the family were heterozygous for the mutation, which was not found in 243 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19732867" 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> rs75949023 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs75949023;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/rs75949023?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=rs75949023" 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=rs75949023" 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=RCV000023981 OR RCV000211793 OR RCV000225012 OR RCV000627214 OR RCV004751222 OR RCV004798747" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023981, RCV000211793, RCV000225012, RCV000627214, RCV004751222, RCV004798747" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023981...</a>
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<p>In 9 affected children from 2 unrelated Ashkenazi Jewish families segregating autosomal recessive nonprogressive sensorineural hearing loss (DFNB77; <a href="/entry/613079">613079</a>), <a href="#1" class="mim-tip-reference" title="Edvardson, S., Jalas, C., Shaag, A., Zenvirt, S., Landau, C., Lerer, I., Elpeleg, O. <strong>A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.</strong> Am. J. Med. Genet. 155A: 1170-1172, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21465660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21465660</a>] [<a href="https://doi.org/10.1002/ajmg.a.33972" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21465660">Edvardson et al. (2011)</a> identified homozygosity for a 4714C-T transition in exon 30, resulting in an arg1572-to-ter (R1572X) substitution in the eleventh PLAT domain. The mutation was present in heterozygosity in the unaffected parents, and 4 heterozygotes were detected among 719 anonymous Ashkenazi individuals, indicating a carrier rate of 1:180 Ashkenazi Jews. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21465660" 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> rs113444922 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113444922;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/rs113444922?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=rs113444922" 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=rs113444922" 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=RCV000023982 OR RCV001123335" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023982, RCV001123335" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023982...</a>
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<p>This variant is classified as a variant of unknown significance because its contribution to the phenotype of Fuchs endothelial corneal dystrophy (see FECD3, <a href="/entry/613267">613267</a>) has not been confirmed.</p><p>Using DNA from 1 affected and 1 unaffected member from each of 3 large families with Fuchs endothelial corneal dystrophy mapping to chromosome 18q21.2-q21.3 (FECD3; <a href="/entry/613267">613267</a>), originally studied by <a href="#4" class="mim-tip-reference" title="Sundin, O. H., Broman, K. W., Chang, H. H., Vito, E. C. L., Stark, W. J., Gottsch, J. D. <strong>A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32.</strong> Invest. Ophthal. Vis. Sci. 47: 3919-3926, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16936105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16936105</a>] [<a href="https://doi.org/10.1167/iovs.05-1619" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16936105">Sundin et al. (2006)</a>, <a href="#3" class="mim-tip-reference" title="Riazuddin, S. A., Parker, D. S., McGlumphy, E. J., Oh, E. C., Iliff, B. W., Schmedt, T., Jurkunas, U., Schleif, R., Katsanis, N., Gottsch, J. D. <strong>Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.</strong> Am. J. Hum. Genet. 90: 533-539, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22341973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22341973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22341973[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.ajhg.2012.01.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22341973">Riazuddin et al. (2012)</a> analyzed the coding sequence and intron-exon junctions of 134 genes within the most conservative critical region. In 2 of the 3 families, they found no changes that could explain the disorder, but in the third family ('kindred 2' of <a href="#4" class="mim-tip-reference" title="Sundin, O. H., Broman, K. W., Chang, H. H., Vito, E. C. L., Stark, W. J., Gottsch, J. D. <strong>A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32.</strong> Invest. Ophthal. Vis. Sci. 47: 3919-3926, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16936105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16936105</a>] [<a href="https://doi.org/10.1167/iovs.05-1619" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16936105">Sundin et al., 2006</a>), a missense variant in the LOXHD1 gene (R547C; <a href="#0003">613072.0003</a>) was found to be present in 7 of 8 affected members of the family, as well as in 1 family member with an unknown affection status. The variant was not detected in 384 chromosomes of individuals over 60 years of age with phenotypically normal corneas on slit-lamp examination; however, it had been identified in an individual of African descent (Bushman) in a whole-genome sequencing project. <a href="#3" class="mim-tip-reference" title="Riazuddin, S. A., Parker, D. S., McGlumphy, E. J., Oh, E. C., Iliff, B. W., Schmedt, T., Jurkunas, U., Schleif, R., Katsanis, N., Gottsch, J. D. <strong>Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.</strong> Am. J. Hum. Genet. 90: 533-539, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22341973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22341973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22341973[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.ajhg.2012.01.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22341973">Riazuddin et al. (2012)</a> analyzed all coding exons of LOXHD1 in a cohort of 207 unrelated individuals with FECD and identified 15 variants in 16 patients which were not found in 384 ethnically matched control chromosomes, in the 1000 Genomes Project, or in the 1500 Exome Project. However, sequencing of all coding exons of LOXHD1 in 288 unrelated unaffected individuals revealed 8 previously unreported variants, and the authors noted that another 12 LOXHD1 variants had previously been identified in 550 samples of European descent in the 1500 Exome Project. Analysis of the data showed significant enrichment of variants (p = 0.003) in cases compared to controls, suggesting that the observed mutational load of this locus is relevant to FECD, but <a href="#3" class="mim-tip-reference" title="Riazuddin, S. A., Parker, D. S., McGlumphy, E. J., Oh, E. C., Iliff, B. W., Schmedt, T., Jurkunas, U., Schleif, R., Katsanis, N., Gottsch, J. D. <strong>Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.</strong> Am. J. Hum. Genet. 90: 533-539, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22341973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22341973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22341973[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.ajhg.2012.01.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22341973">Riazuddin et al. (2012)</a> cautioned that interpreting with confidence the causal potential of any single variant allele was not possible. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22341973+16936105" 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>REFERENCES</strong>
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<a id="Edvardson2011" class="mim-anchor"></a>
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Edvardson, S., Jalas, C., Shaag, A., Zenvirt, S., Landau, C., Lerer, I., Elpeleg, O.
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<strong>A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.</strong>
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Am. J. Med. Genet. 155A: 1170-1172, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21465660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21465660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21465660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33972" target="_blank">Full Text</a>]
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<a id="Grillet2009" class="mim-anchor"></a>
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Grillet, N., Schwander, M., Hildebrand, M. S., Sczaniecka, A., Kolatkar, A., Velasco, J., Webster, J. A., Kahrizi, K., Najmabadi, H., Kimberling, W. J., Stephan, D., Bahlo, M., Wiltshire, T., Tarantino, L. M., Kuhn, P., Smith, R. J. H., Muller, U.
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<strong>Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.</strong>
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Am. J. Hum. Genet. 85: 328-337, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732867[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=19732867" 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.ajhg.2009.07.017" target="_blank">Full Text</a>]
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Riazuddin, S. A., Parker, D. S., McGlumphy, E. J., Oh, E. C., Iliff, B. W., Schmedt, T., Jurkunas, U., Schleif, R., Katsanis, N., Gottsch, J. D.
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<strong>Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.</strong>
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Am. J. Hum. Genet. 90: 533-539, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22341973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22341973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22341973[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=22341973" 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.ajhg.2012.01.013" target="_blank">Full Text</a>]
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Sundin, O. H., Broman, K. W., Chang, H. H., Vito, E. C. L., Stark, W. J., Gottsch, J. D.
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<strong>A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32.</strong>
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Invest. Ophthal. Vis. Sci. 47: 3919-3926, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16936105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16936105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16936105" 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/10.1167/iovs.05-1619" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 4/25/2012
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Marla J. F. O'Neill - updated : 10/13/2009
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Patricia A. Hartz : 10/13/2009
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carol : 08/08/2014
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carol : 8/6/2014<br>carol : 1/7/2013<br>carol : 6/5/2012<br>carol : 4/25/2012<br>terry : 4/25/2012<br>terry : 4/25/2012<br>terry : 1/21/2010<br>wwang : 10/15/2009<br>joanna : 10/13/2009<br>wwang : 10/13/2009<br>wwang : 10/13/2009
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<strong>*</strong> 613072
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LIPOXYGENASE HOMOLOGY DOMAIN-CONTAINING 1; LOXHD1
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Cytogenetic location: 18q21.1
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<span class="small">(from NCBI)</span>
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Phenotype
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Inheritance
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18q21.1
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Deafness, autosomal recessive 77
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613079
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Autosomal recessive
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3
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<strong>TEXT</strong>
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<p>Grillet et al. (2009) cloned mouse Loxhd1, and by database analysis, they identified human LOXHD1. They also cloned a splice variant of Loxhd1 from a mouse inner ear cDNA library, which encodes a deduced 2,068-amino acid mouse protein made up of 15 polycystin (see 601313)/lipoxygenase (see 607206)/alpha-toxin (PLAT) domains. PLAT domains are about 120 amino acids long, form a beta-sandwich consisting of 2 sheets of 4 strands each, and appear to function in plasma membrane targeting. Grillet et al. (2009) identified LOXHD1 orthologs in vertebrates, cephalochordates, and urochordates, but not in arthropods or nematode. In situ hybridization detected Loxhd1 expression in the developing mouse inner ear at embryonic days 13.5 and 16, but not in any other tissue. At postnatal day 4, expression was detected in cochlear and vestibular hair cells, with highest concentration in the nucleus. Loxhd1 progressively localized to the cytoplasm, and in the adult, Loxhd1 was expressed in hair cells along the length of stereocilia. </p><p>Riazuddin et al. (2012) detected expression of LOXHD1 in cultured human corneal endothelial cells. In mouse corneas at postnatal day 120, Loxhd1 was detected both in the corneal epithelium and in the endothelium, but with significantly higher expression in epithelial cells. </p>
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<strong>Gene Structure</strong>
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<p>Based on conservation between the mouse and human LOXHD1 genes, Grillet et al. (2009) determined that the LOXHD1 gene contains at least 43 exons. </p>
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<strong>Mapping</strong>
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<p>By genomic sequence analysis, Grillet et al. (2009) mapped the LOXHD1 gene to chromosome 18q12-q21. </p>
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<strong>Molecular Genetics</strong>
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<p><strong><em>Autosomal Recessive Deafness 77</em></strong></p><p>
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In a 5-generation consanguineous Iranian family with nonsyndromic hearing loss mapping to chromosome 18q12-q21 (DFNB77; 613079), Grillet et al. (2009) sequenced the LOXHD1 gene and identified a homozygous mutation (R670X; 613072.0001) in all affected family members tested. Unaffected family members were heterozygous for the mutation, which was not found in 243 controls. </p><p>In 9 affected children from 2 unrelated Ashkenazi Jewish families with severe to profound congenital nonprogressive nonsyndromic hearing loss in which linkage to the GJB2 (121011)/GJB6 (604418) genes had been excluded, Edvardson et al. (2011) identified homozygosity for a nonsense mutation in the LOXHD1 gene (R1572X; 613072.0002). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible role of variation in the LOXHD1 gene in Fuchs endothelial corneal dystrophy mapping to chromosome 18q21 (FECD3; 613267), see 613072.0003.</p>
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<strong>Animal Model</strong>
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<p>Using an N-ethyl-N-nitrosourea (ENU) mutagenesis screen, Grillet et al. (2009) developed the 'samba' mouse line that becomes hearing impaired by 3 weeks of age and deaf by 8 weeks of age. Homozygous samba mice showed no other neurologic or vestibular abnormalities, and heterozygous samba mice appeared completely normal. Stereociliary development was not affected in homozygous samba mice, but hair cell function was perturbed and hair cells eventually degenerated. Grillet et al. (2009) found that samba was a mutation in the mouse Loxhd1 gene that destabilized the beta-sandwich structure of PLAT domain 10. The mutation did not alter mRNA or protein stability or localization of Loxhd1 protein along the length of stereocilia. However, by postnatal day 21, some hair cells showed morphologic defects with fused stereocilia and membrane ruffling at the apical cell surface. Profound degenerative changes were obvious by postnatal day 90, including hair cell loss and a reduction in spiral ganglion neurons. Grillet et al. (2009) hypothesized that the degeneration of spiral ganglion neurons was likely secondary to perturbations in the function and maintenance of hair cells. </p>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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<strong>3 Selected Examples):</strong>
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<strong>.0001 DEAFNESS, AUTOSOMAL RECESSIVE 77</strong>
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LOXHD1, ARG670TER
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SNP: rs121918370,
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gnomAD: rs121918370,
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ClinVar: RCV000000426, RCV000726554, RCV003398397
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<p>In affected members of a 5-generation consanguineous Iranian family segregating autosomal recessive nonsyndromic hearing loss (DFNB77; 613079), Grillet et al. (2009) identified homozygosity for a 2008C-T transition in exon 15 of the LOXHD1 gene, resulting in an arg670-to-ter (R670X) substitution at a conserved residue in the C-terminal end of the fifth PLAT domain, predicted to result in either a severely truncated protein or nonsense-mediated mRNA decay. Unaffected members of the family were heterozygous for the mutation, which was not found in 243 controls. </p>
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<span class="mim-font">
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<strong>.0002 DEAFNESS, AUTOSOMAL RECESSIVE 77</strong>
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</h4>
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<span class="mim-text-font">
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LOXHD1, ARG1572TER
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<br />
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SNP: rs75949023,
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gnomAD: rs75949023,
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ClinVar: RCV000023981, RCV000211793, RCV000225012, RCV000627214, RCV004751222, RCV004798747
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<p>In 9 affected children from 2 unrelated Ashkenazi Jewish families segregating autosomal recessive nonprogressive sensorineural hearing loss (DFNB77; 613079), Edvardson et al. (2011) identified homozygosity for a 4714C-T transition in exon 30, resulting in an arg1572-to-ter (R1572X) substitution in the eleventh PLAT domain. The mutation was present in heterozygosity in the unaffected parents, and 4 heterozygotes were detected among 719 anonymous Ashkenazi individuals, indicating a carrier rate of 1:180 Ashkenazi Jews. </p>
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<span class="mim-font">
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<strong>.0003 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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</span>
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<span class="mim-text-font">
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LOXHD1, ARG547CYS
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<br />
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SNP: rs113444922,
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gnomAD: rs113444922,
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ClinVar: RCV000023982, RCV001123335
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<span class="mim-text-font">
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<p>This variant is classified as a variant of unknown significance because its contribution to the phenotype of Fuchs endothelial corneal dystrophy (see FECD3, 613267) has not been confirmed.</p><p>Using DNA from 1 affected and 1 unaffected member from each of 3 large families with Fuchs endothelial corneal dystrophy mapping to chromosome 18q21.2-q21.3 (FECD3; 613267), originally studied by Sundin et al. (2006), Riazuddin et al. (2012) analyzed the coding sequence and intron-exon junctions of 134 genes within the most conservative critical region. In 2 of the 3 families, they found no changes that could explain the disorder, but in the third family ('kindred 2' of Sundin et al., 2006), a missense variant in the LOXHD1 gene (R547C; 613072.0003) was found to be present in 7 of 8 affected members of the family, as well as in 1 family member with an unknown affection status. The variant was not detected in 384 chromosomes of individuals over 60 years of age with phenotypically normal corneas on slit-lamp examination; however, it had been identified in an individual of African descent (Bushman) in a whole-genome sequencing project. Riazuddin et al. (2012) analyzed all coding exons of LOXHD1 in a cohort of 207 unrelated individuals with FECD and identified 15 variants in 16 patients which were not found in 384 ethnically matched control chromosomes, in the 1000 Genomes Project, or in the 1500 Exome Project. However, sequencing of all coding exons of LOXHD1 in 288 unrelated unaffected individuals revealed 8 previously unreported variants, and the authors noted that another 12 LOXHD1 variants had previously been identified in 550 samples of European descent in the 1500 Exome Project. Analysis of the data showed significant enrichment of variants (p = 0.003) in cases compared to controls, suggesting that the observed mutational load of this locus is relevant to FECD, but Riazuddin et al. (2012) cautioned that interpreting with confidence the causal potential of any single variant allele was not possible. </p>
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</span>
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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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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Edvardson, S., Jalas, C., Shaag, A., Zenvirt, S., Landau, C., Lerer, I., Elpeleg, O.
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<strong>A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.</strong>
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Am. J. Med. Genet. 155A: 1170-1172, 2011.
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[PubMed: 21465660]
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[Full Text: https://doi.org/10.1002/ajmg.a.33972]
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</li>
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<li>
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<p class="mim-text-font">
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Grillet, N., Schwander, M., Hildebrand, M. S., Sczaniecka, A., Kolatkar, A., Velasco, J., Webster, J. A., Kahrizi, K., Najmabadi, H., Kimberling, W. J., Stephan, D., Bahlo, M., Wiltshire, T., Tarantino, L. M., Kuhn, P., Smith, R. J. H., Muller, U.
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|
<strong>Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.</strong>
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Am. J. Hum. Genet. 85: 328-337, 2009.
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[PubMed: 19732867]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.07.017]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Riazuddin, S. A., Parker, D. S., McGlumphy, E. J., Oh, E. C., Iliff, B. W., Schmedt, T., Jurkunas, U., Schleif, R., Katsanis, N., Gottsch, J. D.
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|
<strong>Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.</strong>
|
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Am. J. Hum. Genet. 90: 533-539, 2012.
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[PubMed: 22341973]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.01.013]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Sundin, O. H., Broman, K. W., Chang, H. H., Vito, E. C. L., Stark, W. J., Gottsch, J. D.
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<strong>A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32.</strong>
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Invest. Ophthal. Vis. Sci. 47: 3919-3926, 2006.
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[PubMed: 16936105]
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[Full Text: https://doi.org/10.1167/iovs.05-1619]
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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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<span class="text-nowrap mim-text-font">
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Contributors:
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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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Marla J. F. O'Neill - updated : 4/25/2012<br>Marla J. F. O'Neill - updated : 10/13/2009
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</div>
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</div>
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Creation Date:
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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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Patricia A. Hartz : 10/13/2009
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carol : 08/08/2014<br>carol : 8/6/2014<br>carol : 1/7/2013<br>carol : 6/5/2012<br>carol : 4/25/2012<br>terry : 4/25/2012<br>terry : 4/25/2012<br>terry : 1/21/2010<br>wwang : 10/15/2009<br>joanna : 10/13/2009<br>wwang : 10/13/2009<br>wwang : 10/13/2009
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