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Entry
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- *609237 - IQ MOTIF-CONTAINING PROTEIN B1; IQCB1
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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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<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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</form>
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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">*609237</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 role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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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 role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/609237">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 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=ENSG00000173226;t=ENST00000310864" 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=9657" 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=609237" 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=ENSG00000173226;t=ENST00000310864" 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_001023570,NM_001023571,NM_001319107,NR_134968,XM_005247911,XM_017007539,XM_047449250,XM_047449251,XM_047449252,XM_047449253" 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_001023570" 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=609237" 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=11049&isoform_id=11049_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/IQCB1" 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/3123054,13543281,21104472,57230950,66393905,66393907,119599905,119599906,119599907,170014680,170014684,530375562,929653735,981220808,1034636609,2217347018,2217347020,2217347022,2217347025,2462593893,2462593895,2462593897,2462593899,2462593901,2462593903" 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/Q15051" 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=9657" 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=ENSG00000173226;t=ENST00000310864" 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=IQCB1" 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=IQCB1" 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+9657" 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/IQCB1" 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:9657" 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/9657" 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=chr3&hgg_gene=ENST00000310864.11&hgg_start=121769761&hgg_end=121835060&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/genes/HGNC:28949" 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=609237[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=609237[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000173226" 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=IQCB1" 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=IQCB1" 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=IQCB1" 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="http://www.LOVD.nl/IQCB1" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=IQCB1&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/PA134869761" 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:28949" 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:2443764" 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/IQCB1#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:2443764" 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/9657/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/OMIA001675/" 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=9657" 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://zfin.org/ZDB-GENE-041212-47" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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=IQCB1&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>
|
|
609237
|
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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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IQ MOTIF-CONTAINING PROTEIN B1; IQCB1
|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
NEPHROCYSTIN 5; NPHP5<br />
|
|
p53- AND DNA DAMAGE-REGULATED IQ MOTIF PROTEIN; PIQ<br />
|
|
KIAA0036
|
|
</span>
|
|
</h4>
|
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</div>
|
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=IQCB1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">IQCB1</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/3/594?start=-3&limit=10&highlight=594">3q13.33</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:121769761-121835060&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'})">3:121,769,761-121,835,060</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
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|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/594?start=-3&limit=10&highlight=594">
|
|
3q13.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Senior-Loken syndrome 5
|
|
|
|
</span>
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<p>By sequencing clones obtained from an immature myeloid cell line cDNA library, <a href="#4" class="mim-tip-reference" title="Nomura, N., Miyajima, N., Sazuka, T., Tanaka, A., Kawarabayashi, Y., Sato, S., Nagase, T., Seki, N., Ishikawa, K., Tabata, S. <strong>Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line, KG-1.</strong> DNA Res. 1: 27-35, 1994. Note: Erratum: DNA Res. 2: 210 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7584026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7584026</a>] [<a href="https://doi.org/10.1093/dnares/1.1.27" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7584026">Nomura et al. (1994)</a> cloned IQCB1, which they designated KIAA0036. The deduced 598-amino acid protein contains a tyrosine phosphorylation site. Northern blot analysis detected high IQCB1 expression in lung and testis, intermediate expression in brain, skeletal muscle, and kidney, and low expression in placenta, liver, spleen, thymus, prostate, ovary, small intestine, colon, and peripheral blood leukocytes. No expression was detected in pancreas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7584026" 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>Using RT-PCR, <a href="#5" class="mim-tip-reference" title="Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others. <strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong> Nature Genet. 37: 282-288, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>] [<a href="https://doi.org/10.1038/ng1520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15723066">Otto et al. (2005)</a> obtained a full-length cDNA encoding human IQCB1, which they also called NPHP5. The deduced 598-amino acid protein has a calculated molecular mass of 69 kD. It contains a central coiled-coil region and 2 IQ calmodulin (see CALM1; <a href="/entry/114180">114180</a>)-binding regions. Northern blot analysis detected a primary IQCB1 transcript of 2.6 kb that was ubiquitously expressed in human tissues. RNA dot blot analysis confirmed ubiquitous expression in human adult and fetal tissues. In situ hybridization showed ubiquitous but weak expression of Iqcb1 during mouse embryonic development. Immunoblot analysis detected a 55-kD protein in extracts of mouse and human retina and mouse kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15723066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By subtractive hybridization to identify stress-regulated genes, <a href="#3" class="mim-tip-reference" title="Luo, X., He, Q., Huang, Y., Sheikh, M. S. <strong>Cloning and characterization of a p53 and DNA damage down-regulated gene PIQ that codes for a novel calmodulin-binding IQ motif protein and is up-regulated in gastrointestinal cancers.</strong> Cancer Res. 65: 10725-10733, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16322217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16322217</a>] [<a href="https://doi.org/10.1158/0008-5472.CAN-05-1132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16322217">Luo et al. (2005)</a> cloned 2 PIQ splice variants, PIQ-L and PIQ-S, that encode proteins with calculated molecular masses of 69.0 and 53.8 kD, respectively. PIQ-L uses all 15 exons, whereas PIQ-S lacks exons 8, 9, and 10. PIQ-L transcripts were more abundant than PIQ-S transcripts in placenta and human cancer cell line cDNA libraries. Northern blot analysis detected highest PIQ expression in testis, with lower expression in other tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16322217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others. <strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong> Nature Genet. 37: 282-288, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>] [<a href="https://doi.org/10.1038/ng1520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15723066">Otto et al. (2005)</a> determined that the IQCB1 gene spans about 65.7 kb and contains 15 exons. Exons 1 and 2 are not translated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15723066" 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="#5" class="mim-tip-reference" title="Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others. <strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong> Nature Genet. 37: 282-288, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>] [<a href="https://doi.org/10.1038/ng1520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15723066">Otto et al. (2005)</a> mapped the IQCB1 gene to chromosome 3q21.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15723066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 1/17/2018."None>Gross (2018)</a> mapped the IQCB1 gene to chromosome 3q13.33 based on an alignment of the IQCB1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC005806" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC005806</a>) with the genomic sequence (GRCh38).</p>
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<p>By yeast 2-hybrid analysis, <a href="#5" class="mim-tip-reference" title="Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others. <strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong> Nature Genet. 37: 282-288, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>] [<a href="https://doi.org/10.1038/ng1520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15723066">Otto et al. (2005)</a> showed that IQCB1 interacted with calmodulin. Coimmunoprecipitation analysis revealed that IQCB1, retinitis pigmentosa GTPase regulator (RPGR; <a href="/entry/312610">312610</a>), and calmodulin were present in a multiprotein complex in bovine retina. Confocal laser microscopy, immunofluorescence, and immunogold labeling localized IQCB1, RPGR, and calmodulin to connecting cilia of photoreceptors and to primary cilia of renal epithelial cells. Because primary cilia of renal epithelial cells and connecting cilia of photoreceptors are homologous subcellular structures, <a href="#5" class="mim-tip-reference" title="Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others. <strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong> Nature Genet. 37: 282-288, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>] [<a href="https://doi.org/10.1038/ng1520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15723066">Otto et al. (2005)</a> proposed that IQCB1 and RPGR may participate in a common pathway of ciliary function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15723066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By subtractive hybridization, <a href="#3" class="mim-tip-reference" title="Luo, X., He, Q., Huang, Y., Sheikh, M. S. <strong>Cloning and characterization of a p53 and DNA damage down-regulated gene PIQ that codes for a novel calmodulin-binding IQ motif protein and is up-regulated in gastrointestinal cancers.</strong> Cancer Res. 65: 10725-10733, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16322217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16322217</a>] [<a href="https://doi.org/10.1158/0008-5472.CAN-05-1132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16322217">Luo et al. (2005)</a> found that PIQ expression was downregulated by p53 (TP53; <a href="/entry/191170">191170</a>) and genotoxic stress in human cell lines. In a reporter gene assay, p53 downregulated PIQ promoter activity in a dose-dependent manner. PIQ repressed expression of PUMA (BBC3; <a href="/entry/605854">605854</a>), a gene regulated by p53 and by calcium-mobilizing agents. Both PIQ-L and PIQ-S interacted with calcium-bound and calcium-free calmodulin. <a href="#3" class="mim-tip-reference" title="Luo, X., He, Q., Huang, Y., Sheikh, M. S. <strong>Cloning and characterization of a p53 and DNA damage down-regulated gene PIQ that codes for a novel calmodulin-binding IQ motif protein and is up-regulated in gastrointestinal cancers.</strong> Cancer Res. 65: 10725-10733, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16322217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16322217</a>] [<a href="https://doi.org/10.1158/0008-5472.CAN-05-1132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16322217">Luo et al. (2005)</a> concluded that PIQ may bridge signaling between p53 and calmodulin-regulated cellular processes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16322217" 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>One in 10 individuals with nephronophthisis (NPHP; <a href="/entry/256100">256100</a>) also have retinitis pigmentosa, constituting Senior-Loken syndrome (SLSN; <a href="/entry/266900">266900</a>). <a href="#5" class="mim-tip-reference" title="Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others. <strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong> Nature Genet. 37: 282-288, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>] [<a href="https://doi.org/10.1038/ng1520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15723066">Otto et al. (2005)</a> identified 8 different mutations in the IQCB1 gene (see, e.g., <a href="#0001">609237.0001</a>-<a href="#0005">609237.0005</a>) in patients with Senior-Loken syndrome mapping to chromosome 3q21.1 (SLSN5; <a href="/entry/609254">609254</a>). All individuals with IQCB1 mutations had retinitis pigmentosa, and <a href="#5" class="mim-tip-reference" title="Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others. <strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong> Nature Genet. 37: 282-288, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>] [<a href="https://doi.org/10.1038/ng1520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15723066">Otto et al. (2005)</a> concluded that mutation in IQCB1 is the most frequent cause of SLSN. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15723066" 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 a cohort of 276 individuals diagnosed with an early-onset form of retinal dystrophy designated Leber congenital amaurosis (LCA; see <a href="/entry/204000">204000</a>) who were negative for mutation in 8 known LCA genes, <a href="#7" class="mim-tip-reference" title="Stone, E. M., Cideciyan, A. V., Aleman, T. S., Scheetz, T. E., Sumaroka, A., Ehlinger, M. A., Schwartz, S. B., Fishman, G. A., Traboulsi, E. I., Lam, B. L., Fulton, A. B., Mullins, R. F., Sheffield, V. C., Jacobson, S. G. <strong>Variations in NPHP5 in patients with nonsyndromic Leber congenital amaurosis and Senior-Loken syndrome.</strong> Arch. Ophthal. 129: 81-87, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21220633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21220633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21220633[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/10.1001/archophthalmol.2010.330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21220633">Stone et al. (2011)</a> analyzed the IQCB1 gene and identified homozygosity or compound heterozygosity for frameshift or nonsense IQCB1 mutations in 9 patients (see, e.g., <a href="#0001">609237.0001</a> and <a href="#0006">609237.0006</a>-<a href="#0008">609237.0008</a>). None of the patients had overt renal disease in the first decade of life, but 2 of the oldest patients, aged 23 and 14 years, respectively, had developed severe renal disease, and another patient had an elevated creatinine level at 19 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21220633" 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 11 patients with LCA, 7 of whom had already developed renal failure, <a href="#1" class="mim-tip-reference" title="Estrada-Cuzcano, A., Koenekoop, R. K., Coppieters, F., Kohl, S., Lopez, I., Collin, R. W. J., De Baere, E. B. W., Roeleveld, D., Marek, J., Bernd, A., Rohrschneider, K., van den Born, L. I., Meire, F., Maumenee, I. H., Jacobson, S. G., Hoyng, C. B., Zrenner, E., Cremers, F. P. M., den Hollander, A. I. <strong>IQCB1 mutations in patients with Leber congenital amaurosis.</strong> Invest. Ophthal. Vis. Sci. 52: 834-839, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20881296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20881296</a>] [<a href="https://doi.org/10.1167/iovs.10-5221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20881296">Estrada-Cuzcano et al. (2011)</a> identified homozygosity or compound heterozygosity for mutations in the IQCB1 gene (see, e.g., <a href="#0001">609237.0001</a> and <a href="#0002">609237.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20881296" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Schafer, T., Putz, M., Lienkamp, S., Ganner, A., Bergbreiter, A., Ramachandran, H., Gieloff, V., Gerner, M., Mattonet, C., Czarnecki, P. G., Sayer, J. A., Otto, E. A., Hildebrandt, F., Kramer-Zucker, A., Walz, G. <strong>Genetic and physical interaction between the NPHP5 and NPHP6 gene products.</strong> Hum. Molec. Genet. 17: 3655-3662, 2008. Note: Erratum: Hum. Molec. Genet. 18: 4226 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18723859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18723859</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18723859[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/10.1093/hmg/ddn260" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18723859">Schafer et al. (2008)</a> found that depletion of either Nphp5 or Nphp6 (CEP290; <a href="/entry/610142">610142</a>) in zebrafish embryos caused almost identical abnormalities, including hydrocephalus, developmental eye defects, and pronephric cysts. Combined knockdown of Nphp5 and Nphp6 synergistically augmented these phenotypes. Nphp5 directly bound Nphp6 in vitro. Expression of the Nphp5-binding domain of Nphp6 inhibited neural tube closure during early Xenopus embryogenesis, and a similar phenotype was observed after knockdown of Nphp5 in Xenopus oocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18723859" 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>In affected members of a consanguineous Turkish family with Senior-Loken syndrome-5 (SLSN5; <a href="/entry/609254">609254</a>), <a href="#5" class="mim-tip-reference" title="Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others. <strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong> Nature Genet. 37: 282-288, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>] [<a href="https://doi.org/10.1038/ng1520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15723066">Otto et al. (2005)</a> identified a homozygous C-to-T transition at nucleotide 1381 in exon 13 of the IQCB1 gene, resulting in an arg461-to-ter (R461X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15723066" 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 5 patients with early-onset retinal dystrophy diagnosed as Leber congenital amaurosis (LCA; see <a href="/entry/204000">204000</a>), 2 of whom also had severe renal disease, <a href="#7" class="mim-tip-reference" title="Stone, E. M., Cideciyan, A. V., Aleman, T. S., Scheetz, T. E., Sumaroka, A., Ehlinger, M. A., Schwartz, S. B., Fishman, G. A., Traboulsi, E. I., Lam, B. L., Fulton, A. B., Mullins, R. F., Sheffield, V. C., Jacobson, S. G. <strong>Variations in NPHP5 in patients with nonsyndromic Leber congenital amaurosis and Senior-Loken syndrome.</strong> Arch. Ophthal. 129: 81-87, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21220633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21220633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21220633[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/10.1001/archophthalmol.2010.330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21220633">Stone et al. (2011)</a> identified 1 patient with homozygosity for the R461X mutation and 4 patients with compound heterozygosity for the R461X mutation and another IQCB1 mutation. A 14-year-old girl who had been diagnosed with LCA but had no manifestations of renal disease was homozygous for the R461X mutation. A 23-year-old woman with LCA who developed severe renal disease by 13 years of age was compound heterozygous for R461X and a 1-bp del (333delT; <a href="#0006">609237.0006</a>) in the IQCB1 gene. A 1-year-old girl and a 13-year-old boy were compound heterozygous for R461X and a 2-bp deletion (1516_1517delCA; <a href="#0007">609237.0007</a>) in the IQCB1 gene; both had been diagnosed with LCA, but neither had developed signs of renal disease. A 14-year-old boy with LCA who manifested severe renal disease by 13 years of age was compound heterozygous for R461X and a 1465C-T transition in the IQCB1 gene, resulting in an arg489-to-ter (R489X; <a href="#0008">609237.0008</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21220633" 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 a Puerto Rican father and 2 daughters diagnosed with LCA, <a href="#1" class="mim-tip-reference" title="Estrada-Cuzcano, A., Koenekoop, R. K., Coppieters, F., Kohl, S., Lopez, I., Collin, R. W. J., De Baere, E. B. W., Roeleveld, D., Marek, J., Bernd, A., Rohrschneider, K., van den Born, L. I., Meire, F., Maumenee, I. H., Jacobson, S. G., Hoyng, C. B., Zrenner, E., Cremers, F. P. M., den Hollander, A. I. <strong>IQCB1 mutations in patients with Leber congenital amaurosis.</strong> Invest. Ophthal. Vis. Sci. 52: 834-839, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20881296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20881296</a>] [<a href="https://doi.org/10.1167/iovs.10-5221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20881296">Estrada-Cuzcano et al. (2011)</a> identified homozygosity for the R461X mutation in the IQCB1 gene. Reevaluation of the patients' renal function revealed that all 3 had nephronophthisis: the 37-year-old father had undergone renal transplantation at age 24, the 16-year-old daughter had been on dialysis since age 13, and the 12-year-old daughter had undergone renal transplantation at 9 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20881296" 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>In affected members of 2 German families and 2 Swiss families with Senior-Loken syndrome-5 (SLSN5; <a href="/entry/609254">609254</a>), <a href="#5" class="mim-tip-reference" title="Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others. <strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong> Nature Genet. 37: 282-288, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>] [<a href="https://doi.org/10.1038/ng1520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15723066">Otto et al. (2005)</a> identified a homozygous 2-bp deletion (TT) at nucleotide 424 in exon 6 of the IQCB1 gene, resulting in a frameshift and premature termination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15723066" 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 a woman with Leber congenital amaurosis (LCA), <a href="#1" class="mim-tip-reference" title="Estrada-Cuzcano, A., Koenekoop, R. K., Coppieters, F., Kohl, S., Lopez, I., Collin, R. W. J., De Baere, E. B. W., Roeleveld, D., Marek, J., Bernd, A., Rohrschneider, K., van den Born, L. I., Meire, F., Maumenee, I. H., Jacobson, S. G., Hoyng, C. B., Zrenner, E., Cremers, F. P. M., den Hollander, A. I. <strong>IQCB1 mutations in patients with Leber congenital amaurosis.</strong> Invest. Ophthal. Vis. Sci. 52: 834-839, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20881296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20881296</a>] [<a href="https://doi.org/10.1167/iovs.10-5221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20881296">Estrada-Cuzcano et al. (2011)</a> identified homozygosity for the 424delTT mutation in the IQCB1 gene. At 34 years of age, she retained normal kidney function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20881296" 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">rs1156803164 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1156803164;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1156803164" 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=rs1156803164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an individual from a German family with Senior-Loken syndrome-5 (SLSN5; <a href="/entry/609254">609254</a>), <a href="#5" class="mim-tip-reference" title="Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others. <strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong> Nature Genet. 37: 282-288, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>] [<a href="https://doi.org/10.1038/ng1520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15723066">Otto et al. (2005)</a> identified a homozygous 4-bp deletion (CTCT) at nucleotide 445 in exon 6 of the IQCB1 gene, resulting in a frameshift and premature termination. An individual from another German family with SLSN5 was compound heterozygous for this 4-bp deletion and a second IQCB1 mutation, another 4-bp deletion (<a href="#0004">609237.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15723066" 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">rs1474058708 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1474058708;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1474058708" 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=rs1474058708" 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=RCV000001907 OR RCV001050356 OR RCV004755699" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001907, RCV001050356, RCV004755699" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001907...</a>
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<p>In a German family with Senior-Loken syndrome-5 (SLSN5; <a href="/entry/609254">609254</a>), <a href="#5" class="mim-tip-reference" title="Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others. <strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong> Nature Genet. 37: 282-288, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>] [<a href="https://doi.org/10.1038/ng1520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15723066">Otto et al. (2005)</a> identified a 4-bp deletion (ACAG) at nucleotide 825 in exon 9 of the IQCB1 gene, resulting in a frameshift and premature termination, in compound heterozygous state with a second 4-bp deletion (<a href="#0003">609237.0003</a>). In another German family with SLSN5 they identified this mutation in compound heterozygous state with a C-to-T transition at nucleotide 1069 in exon 11 of the IQCB1 gene, resulting in a gln357-to-ter mutation (Q357X; <a href="#0005">609237.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15723066" 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">rs121918245 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918245;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918245" 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=rs121918245" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the gln357-to-ter (Q357X) mutation in the IQCB1 gene that was found in compound heterozygous state in patients with Senior-Loken syndrome-5 (SLSN5; <a href="/entry/609254">609254</a>) by <a href="#5" class="mim-tip-reference" title="Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others. <strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong> Nature Genet. 37: 282-288, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>] [<a href="https://doi.org/10.1038/ng1520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15723066">Otto et al. (2005)</a>, see <a href="#0004">609237.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15723066" 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">rs786200929 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786200929;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs786200929" 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=rs786200929" 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=RCV000023755" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023755" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023755</a>
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<p>For discussion of the 1-bp deletion in the IQCB1 gene (333delT) that was found in compound heterozygous state in a patient diagnosed with Leber congenital amaurosis (LCA; see <a href="/entry/204000">204000</a>) by <a href="#7" class="mim-tip-reference" title="Stone, E. M., Cideciyan, A. V., Aleman, T. S., Scheetz, T. E., Sumaroka, A., Ehlinger, M. A., Schwartz, S. B., Fishman, G. A., Traboulsi, E. I., Lam, B. L., Fulton, A. B., Mullins, R. F., Sheffield, V. C., Jacobson, S. G. <strong>Variations in NPHP5 in patients with nonsyndromic Leber congenital amaurosis and Senior-Loken syndrome.</strong> Arch. Ophthal. 129: 81-87, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21220633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21220633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21220633[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/10.1001/archophthalmol.2010.330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21220633">Stone et al. (2011)</a>, see <a href="#0001">609237.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21220633" 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> rs398123538 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398123538;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/rs398123538?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=rs398123538" 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=rs398123538" 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=RCV000174695 OR RCV000787844 OR RCV000790716 OR RCV001042285 OR RCV004755762 OR RCV004815004" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000174695, RCV000787844, RCV000790716, RCV001042285, RCV004755762, RCV004815004" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000174695...</a>
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<p>In 5 patients with early-onset retinal dystrophy diagnosed as Leber congenital amaurosis (LCA; see <a href="/entry/204000">204000</a>), 1 of whom had an elevated creatinine level, <a href="#7" class="mim-tip-reference" title="Stone, E. M., Cideciyan, A. V., Aleman, T. S., Scheetz, T. E., Sumaroka, A., Ehlinger, M. A., Schwartz, S. B., Fishman, G. A., Traboulsi, E. I., Lam, B. L., Fulton, A. B., Mullins, R. F., Sheffield, V. C., Jacobson, S. G. <strong>Variations in NPHP5 in patients with nonsyndromic Leber congenital amaurosis and Senior-Loken syndrome.</strong> Arch. Ophthal. 129: 81-87, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21220633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21220633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21220633[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/10.1001/archophthalmol.2010.330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21220633">Stone et al. (2011)</a> identified homozygosity for a 2-bp deletion (1516delCA) in the IQCB1 gene or compound heterozygosity for 1516delCA and another IQCB1 mutation. Two of the patients were compound heterozygous for 1516delCA and the R461X mutation (<a href="#0001">609237.0001</a>). A 7-year-old boy was homozygous for 1516delCA; he had been diagnosed with LCA but had no manifestations of renal disease. A 5-year-old boy with LCA and no manifestations of renal disease was compound heterozygous for 1516delCA and the R489X mutation (<a href="#0008">609237.0008</a>) in the IQCB1 gene. A 19-year-old woman with LCA and an elevated creatinine level was compound heterozygous for 1516delCA and a 1036G-T transversion in the IQCB1 gene, resulting in a glu346-to-ter (E346X; <a href="#0009">609237.0009</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21220633" 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> rs373909351 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs373909351;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/rs373909351?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=rs373909351" 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=rs373909351" 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=RCV000023757 OR RCV000800060 OR RCV001075299" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023757, RCV000800060, RCV001075299" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023757...</a>
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<p>For discussion of the arg489-to-ter (R489X) mutation in the IQCB1 gene that was found in compound heterozygous state in patients with Senior-Loken syndrome (SLSN5; <a href="/entry/609254">609254</a>) by <a href="#7" class="mim-tip-reference" title="Stone, E. M., Cideciyan, A. V., Aleman, T. S., Scheetz, T. E., Sumaroka, A., Ehlinger, M. A., Schwartz, S. B., Fishman, G. A., Traboulsi, E. I., Lam, B. L., Fulton, A. B., Mullins, R. F., Sheffield, V. C., Jacobson, S. G. <strong>Variations in NPHP5 in patients with nonsyndromic Leber congenital amaurosis and Senior-Loken syndrome.</strong> Arch. Ophthal. 129: 81-87, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21220633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21220633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21220633[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/10.1001/archophthalmol.2010.330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21220633">Stone et al. (2011)</a>, see <a href="#0001">609237.0001</a> and <a href="#0007">609237.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21220633" 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> rs387907009 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907009;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/rs387907009?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=rs387907009" 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=rs387907009" 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=RCV000023758 OR RCV000462160 OR RCV000504719" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023758, RCV000462160, RCV000504719" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023758...</a>
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<p>For discussion of the glu346-to-ter (E346X) mutation in the IQCB1 gene that was found in compound heterozygous state in a patient diagnosed with Leber congenital amaurosis (LCA; see <a href="/entry/204000">204000</a>) by <a href="#7" class="mim-tip-reference" title="Stone, E. M., Cideciyan, A. V., Aleman, T. S., Scheetz, T. E., Sumaroka, A., Ehlinger, M. A., Schwartz, S. B., Fishman, G. A., Traboulsi, E. I., Lam, B. L., Fulton, A. B., Mullins, R. F., Sheffield, V. C., Jacobson, S. G. <strong>Variations in NPHP5 in patients with nonsyndromic Leber congenital amaurosis and Senior-Loken syndrome.</strong> Arch. Ophthal. 129: 81-87, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21220633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21220633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21220633[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/10.1001/archophthalmol.2010.330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21220633">Stone et al. (2011)</a>, see <a href="#0007">609237.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21220633" 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="1" class="mim-anchor"></a>
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<a id="Estrada-Cuzcano2011" class="mim-anchor"></a>
|
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Estrada-Cuzcano, A., Koenekoop, R. K., Coppieters, F., Kohl, S., Lopez, I., Collin, R. W. J., De Baere, E. B. W., Roeleveld, D., Marek, J., Bernd, A., Rohrschneider, K., van den Born, L. I., Meire, F., Maumenee, I. H., Jacobson, S. G., Hoyng, C. B., Zrenner, E., Cremers, F. P. M., den Hollander, A. I.
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<strong>IQCB1 mutations in patients with Leber congenital amaurosis.</strong>
|
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Invest. Ophthal. Vis. Sci. 52: 834-839, 2011.
|
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|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20881296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20881296</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20881296" 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.10-5221" target="_blank">Full Text</a>]
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1/17/2018.
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Luo, X., He, Q., Huang, Y., Sheikh, M. S.
|
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<strong>Cloning and characterization of a p53 and DNA damage down-regulated gene PIQ that codes for a novel calmodulin-binding IQ motif protein and is up-regulated in gastrointestinal cancers.</strong>
|
|
Cancer Res. 65: 10725-10733, 2005.
|
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16322217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16322217</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16322217" 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/10.1158/0008-5472.CAN-05-1132" target="_blank">Full Text</a>]
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<a id="Nomura1994" class="mim-anchor"></a>
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Nomura, N., Miyajima, N., Sazuka, T., Tanaka, A., Kawarabayashi, Y., Sato, S., Nagase, T., Seki, N., Ishikawa, K., Tabata, S.
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<strong>Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line, KG-1.</strong>
|
|
DNA Res. 1: 27-35, 1994. Note: Erratum: DNA Res. 2: 210 only, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7584026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7584026</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7584026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/1.1.27" target="_blank">Full Text</a>]
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Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others.
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<strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong>
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Nature Genet. 37: 282-288, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15723066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1520" target="_blank">Full Text</a>]
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Schafer, T., Putz, M., Lienkamp, S., Ganner, A., Bergbreiter, A., Ramachandran, H., Gieloff, V., Gerner, M., Mattonet, C., Czarnecki, P. G., Sayer, J. A., Otto, E. A., Hildebrandt, F., Kramer-Zucker, A., Walz, G.
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<strong>Genetic and physical interaction between the NPHP5 and NPHP6 gene products.</strong>
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Hum. Molec. Genet. 17: 3655-3662, 2008. Note: Erratum: Hum. Molec. Genet. 18: 4226 only, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18723859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18723859</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18723859[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=18723859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddn260" target="_blank">Full Text</a>]
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Stone, E. M., Cideciyan, A. V., Aleman, T. S., Scheetz, T. E., Sumaroka, A., Ehlinger, M. A., Schwartz, S. B., Fishman, G. A., Traboulsi, E. I., Lam, B. L., Fulton, A. B., Mullins, R. F., Sheffield, V. C., Jacobson, S. G.
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<strong>Variations in NPHP5 in patients with nonsyndromic Leber congenital amaurosis and Senior-Loken syndrome.</strong>
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Arch. Ophthal. 129: 81-87, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21220633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21220633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21220633[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=21220633" 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/10.1001/archophthalmol.2010.330" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 01/17/2018
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 11/2/2012<br>Marla J. F. O'Neill - updated : 5/18/2011<br>Patricia A. Hartz - updated : 9/21/2010<br>Patricia A. Hartz - updated : 2/23/2006<br>Matthew B. Gross - updated : 3/11/2005<br>Victor A. McKusick - updated : 3/9/2005
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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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 : 3/3/2005
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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 01/17/2018
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</span>
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<span class="mim-text-font">
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carol : 10/12/2015<br>mcolton : 3/30/2015<br>alopez : 4/30/2013<br>terry : 11/27/2012<br>carol : 11/2/2012<br>carol : 11/2/2012<br>wwang : 5/19/2011<br>terry : 5/18/2011<br>mgross : 9/21/2010<br>mgross : 3/2/2006<br>terry : 2/23/2006<br>mgross : 3/11/2005<br>terry : 3/9/2005<br>mgross : 3/4/2005
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<span class="mim-font">
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<strong>*</strong> 609237
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<h3>
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<span class="mim-font">
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IQ MOTIF-CONTAINING PROTEIN B1; IQCB1
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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NEPHROCYSTIN 5; NPHP5<br />
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p53- AND DNA DAMAGE-REGULATED IQ MOTIF PROTEIN; PIQ<br />
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KIAA0036
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</span>
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</h4>
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</div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: IQCB1</em></strong>
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</span>
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</p>
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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: 3q13.33
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:121,769,761-121,835,060 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<span class="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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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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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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Inheritance
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<th>
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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3q13.33
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<span class="mim-font">
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Senior-Loken syndrome 5
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</td>
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<td>
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<span class="mim-font">
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609254
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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</table>
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<span class="mim-font">
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<strong>TEXT</strong>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</h4>
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<span class="mim-text-font">
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<p>By sequencing clones obtained from an immature myeloid cell line cDNA library, Nomura et al. (1994) cloned IQCB1, which they designated KIAA0036. The deduced 598-amino acid protein contains a tyrosine phosphorylation site. Northern blot analysis detected high IQCB1 expression in lung and testis, intermediate expression in brain, skeletal muscle, and kidney, and low expression in placenta, liver, spleen, thymus, prostate, ovary, small intestine, colon, and peripheral blood leukocytes. No expression was detected in pancreas. </p><p>Using RT-PCR, Otto et al. (2005) obtained a full-length cDNA encoding human IQCB1, which they also called NPHP5. The deduced 598-amino acid protein has a calculated molecular mass of 69 kD. It contains a central coiled-coil region and 2 IQ calmodulin (see CALM1; 114180)-binding regions. Northern blot analysis detected a primary IQCB1 transcript of 2.6 kb that was ubiquitously expressed in human tissues. RNA dot blot analysis confirmed ubiquitous expression in human adult and fetal tissues. In situ hybridization showed ubiquitous but weak expression of Iqcb1 during mouse embryonic development. Immunoblot analysis detected a 55-kD protein in extracts of mouse and human retina and mouse kidney. </p><p>By subtractive hybridization to identify stress-regulated genes, Luo et al. (2005) cloned 2 PIQ splice variants, PIQ-L and PIQ-S, that encode proteins with calculated molecular masses of 69.0 and 53.8 kD, respectively. PIQ-L uses all 15 exons, whereas PIQ-S lacks exons 8, 9, and 10. PIQ-L transcripts were more abundant than PIQ-S transcripts in placenta and human cancer cell line cDNA libraries. Northern blot analysis detected highest PIQ expression in testis, with lower expression in other tissues examined. </p>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Otto et al. (2005) determined that the IQCB1 gene spans about 65.7 kb and contains 15 exons. Exons 1 and 2 are not translated. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Otto et al. (2005) mapped the IQCB1 gene to chromosome 3q21.1. </p><p>Gross (2018) mapped the IQCB1 gene to chromosome 3q13.33 based on an alignment of the IQCB1 sequence (GenBank BC005806) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By yeast 2-hybrid analysis, Otto et al. (2005) showed that IQCB1 interacted with calmodulin. Coimmunoprecipitation analysis revealed that IQCB1, retinitis pigmentosa GTPase regulator (RPGR; 312610), and calmodulin were present in a multiprotein complex in bovine retina. Confocal laser microscopy, immunofluorescence, and immunogold labeling localized IQCB1, RPGR, and calmodulin to connecting cilia of photoreceptors and to primary cilia of renal epithelial cells. Because primary cilia of renal epithelial cells and connecting cilia of photoreceptors are homologous subcellular structures, Otto et al. (2005) proposed that IQCB1 and RPGR may participate in a common pathway of ciliary function. </p><p>By subtractive hybridization, Luo et al. (2005) found that PIQ expression was downregulated by p53 (TP53; 191170) and genotoxic stress in human cell lines. In a reporter gene assay, p53 downregulated PIQ promoter activity in a dose-dependent manner. PIQ repressed expression of PUMA (BBC3; 605854), a gene regulated by p53 and by calcium-mobilizing agents. Both PIQ-L and PIQ-S interacted with calcium-bound and calcium-free calmodulin. Luo et al. (2005) concluded that PIQ may bridge signaling between p53 and calmodulin-regulated cellular processes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>One in 10 individuals with nephronophthisis (NPHP; 256100) also have retinitis pigmentosa, constituting Senior-Loken syndrome (SLSN; 266900). Otto et al. (2005) identified 8 different mutations in the IQCB1 gene (see, e.g., 609237.0001-609237.0005) in patients with Senior-Loken syndrome mapping to chromosome 3q21.1 (SLSN5; 609254). All individuals with IQCB1 mutations had retinitis pigmentosa, and Otto et al. (2005) concluded that mutation in IQCB1 is the most frequent cause of SLSN. </p><p>In a cohort of 276 individuals diagnosed with an early-onset form of retinal dystrophy designated Leber congenital amaurosis (LCA; see 204000) who were negative for mutation in 8 known LCA genes, Stone et al. (2011) analyzed the IQCB1 gene and identified homozygosity or compound heterozygosity for frameshift or nonsense IQCB1 mutations in 9 patients (see, e.g., 609237.0001 and 609237.0006-609237.0008). None of the patients had overt renal disease in the first decade of life, but 2 of the oldest patients, aged 23 and 14 years, respectively, had developed severe renal disease, and another patient had an elevated creatinine level at 19 years of age. </p><p>In 11 patients with LCA, 7 of whom had already developed renal failure, Estrada-Cuzcano et al. (2011) identified homozygosity or compound heterozygosity for mutations in the IQCB1 gene (see, e.g., 609237.0001 and 609237.0002). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Schafer et al. (2008) found that depletion of either Nphp5 or Nphp6 (CEP290; 610142) in zebrafish embryos caused almost identical abnormalities, including hydrocephalus, developmental eye defects, and pronephric cysts. Combined knockdown of Nphp5 and Nphp6 synergistically augmented these phenotypes. Nphp5 directly bound Nphp6 in vitro. Expression of the Nphp5-binding domain of Nphp6 inhibited neural tube closure during early Xenopus embryogenesis, and a similar phenotype was observed after knockdown of Nphp5 in Xenopus oocytes. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>9 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0001 SENIOR-LOKEN SYNDROME 5</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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IQCB1, ARG461TER
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<br />
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SNP: rs121918244,
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gnomAD: rs121918244,
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ClinVar: RCV000001904, RCV000230781, RCV000505099, RCV000681897, RCV001003059, RCV003362658, RCV003398416
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a consanguineous Turkish family with Senior-Loken syndrome-5 (SLSN5; 609254), Otto et al. (2005) identified a homozygous C-to-T transition at nucleotide 1381 in exon 13 of the IQCB1 gene, resulting in an arg461-to-ter (R461X) substitution. </p><p>In 5 patients with early-onset retinal dystrophy diagnosed as Leber congenital amaurosis (LCA; see 204000), 2 of whom also had severe renal disease, Stone et al. (2011) identified 1 patient with homozygosity for the R461X mutation and 4 patients with compound heterozygosity for the R461X mutation and another IQCB1 mutation. A 14-year-old girl who had been diagnosed with LCA but had no manifestations of renal disease was homozygous for the R461X mutation. A 23-year-old woman with LCA who developed severe renal disease by 13 years of age was compound heterozygous for R461X and a 1-bp del (333delT; 609237.0006) in the IQCB1 gene. A 1-year-old girl and a 13-year-old boy were compound heterozygous for R461X and a 2-bp deletion (1516_1517delCA; 609237.0007) in the IQCB1 gene; both had been diagnosed with LCA, but neither had developed signs of renal disease. A 14-year-old boy with LCA who manifested severe renal disease by 13 years of age was compound heterozygous for R461X and a 1465C-T transition in the IQCB1 gene, resulting in an arg489-to-ter (R489X; 609237.0008) substitution. </p><p>In a Puerto Rican father and 2 daughters diagnosed with LCA, Estrada-Cuzcano et al. (2011) identified homozygosity for the R461X mutation in the IQCB1 gene. Reevaluation of the patients' renal function revealed that all 3 had nephronophthisis: the 37-year-old father had undergone renal transplantation at age 24, the 16-year-old daughter had been on dialysis since age 13, and the 12-year-old daughter had undergone renal transplantation at 9 years of age. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SENIOR-LOKEN SYNDROME 5</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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IQCB1, 2-BP DEL, 424TT
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<br />
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SNP: rs750962965,
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gnomAD: rs750962965,
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ClinVar: RCV000001905, RCV000505085, RCV000822567, RCV001073766, RCV001093170
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of 2 German families and 2 Swiss families with Senior-Loken syndrome-5 (SLSN5; 609254), Otto et al. (2005) identified a homozygous 2-bp deletion (TT) at nucleotide 424 in exon 6 of the IQCB1 gene, resulting in a frameshift and premature termination. </p><p>In a woman with Leber congenital amaurosis (LCA), Estrada-Cuzcano et al. (2011) identified homozygosity for the 424delTT mutation in the IQCB1 gene. At 34 years of age, she retained normal kidney function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 SENIOR-LOKEN SYNDROME 5</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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IQCB1, 4-BP DEL, 445CTCT
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<br />
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SNP: rs1156803164,
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ClinVar: RCV000001906
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an individual from a German family with Senior-Loken syndrome-5 (SLSN5; 609254), Otto et al. (2005) identified a homozygous 4-bp deletion (CTCT) at nucleotide 445 in exon 6 of the IQCB1 gene, resulting in a frameshift and premature termination. An individual from another German family with SLSN5 was compound heterozygous for this 4-bp deletion and a second IQCB1 mutation, another 4-bp deletion (609237.0004). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 SENIOR-LOKEN SYNDROME 5</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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IQCB1, 4-BP DEL, 825ACAG
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<br />
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SNP: rs1474058708,
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ClinVar: RCV000001907, RCV001050356, RCV004755699
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a German family with Senior-Loken syndrome-5 (SLSN5; 609254), Otto et al. (2005) identified a 4-bp deletion (ACAG) at nucleotide 825 in exon 9 of the IQCB1 gene, resulting in a frameshift and premature termination, in compound heterozygous state with a second 4-bp deletion (609237.0003). In another German family with SLSN5 they identified this mutation in compound heterozygous state with a C-to-T transition at nucleotide 1069 in exon 11 of the IQCB1 gene, resulting in a gln357-to-ter mutation (Q357X; 609237.0005). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 SENIOR-LOKEN SYNDROME 5</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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IQCB1, GLN357TER
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<br />
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SNP: rs121918245,
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ClinVar: RCV000001908
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>For discussion of the gln357-to-ter (Q357X) mutation in the IQCB1 gene that was found in compound heterozygous state in patients with Senior-Loken syndrome-5 (SLSN5; 609254) by Otto et al. (2005), see 609237.0004. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>.0006 SENIOR-LOKEN SYNDROME 5</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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IQCB1, 1-BP DEL, 333T
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<br />
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SNP: rs786200929,
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ClinVar: RCV000023755
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>For discussion of the 1-bp deletion in the IQCB1 gene (333delT) that was found in compound heterozygous state in a patient diagnosed with Leber congenital amaurosis (LCA; see 204000) by Stone et al. (2011), see 609237.0001. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 SENIOR-LOKEN SYNDROME 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
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|
<div>
|
|
<span class="mim-text-font">
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|
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IQCB1, 2-BP DEL, 1516CA
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|
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<br />
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SNP: rs398123538,
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|
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gnomAD: rs398123538,
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|
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|
|
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ClinVar: RCV000174695, RCV000787844, RCV000790716, RCV001042285, RCV004755762, RCV004815004
|
|
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|
|
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</span>
|
|
</div>
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<div>
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|
<span class="mim-text-font">
|
|
<p>In 5 patients with early-onset retinal dystrophy diagnosed as Leber congenital amaurosis (LCA; see 204000), 1 of whom had an elevated creatinine level, Stone et al. (2011) identified homozygosity for a 2-bp deletion (1516delCA) in the IQCB1 gene or compound heterozygosity for 1516delCA and another IQCB1 mutation. Two of the patients were compound heterozygous for 1516delCA and the R461X mutation (609237.0001). A 7-year-old boy was homozygous for 1516delCA; he had been diagnosed with LCA but had no manifestations of renal disease. A 5-year-old boy with LCA and no manifestations of renal disease was compound heterozygous for 1516delCA and the R489X mutation (609237.0008) in the IQCB1 gene. A 19-year-old woman with LCA and an elevated creatinine level was compound heterozygous for 1516delCA and a 1036G-T transversion in the IQCB1 gene, resulting in a glu346-to-ter (E346X; 609237.0009) substitution. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
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|
</div>
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|
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 SENIOR-LOKEN SYNDROME 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
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|
|
IQCB1, ARG489TER
|
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<br />
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|
|
SNP: rs373909351,
|
|
|
|
|
|
gnomAD: rs373909351,
|
|
|
|
|
|
ClinVar: RCV000023757, RCV000800060, RCV001075299
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg489-to-ter (R489X) mutation in the IQCB1 gene that was found in compound heterozygous state in patients with Senior-Loken syndrome (SLSN5; 609254) by Stone et al. (2011), see 609237.0001 and 609237.0007. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 SENIOR-LOKEN SYNDROME 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
IQCB1, GLU346TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387907009,
|
|
|
|
|
|
gnomAD: rs387907009,
|
|
|
|
|
|
ClinVar: RCV000023758, RCV000462160, RCV000504719
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the glu346-to-ter (E346X) mutation in the IQCB1 gene that was found in compound heterozygous state in a patient diagnosed with Leber congenital amaurosis (LCA; see 204000) by Stone et al. (2011), see 609237.0007. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
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|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Estrada-Cuzcano, A., Koenekoop, R. K., Coppieters, F., Kohl, S., Lopez, I., Collin, R. W. J., De Baere, E. B. W., Roeleveld, D., Marek, J., Bernd, A., Rohrschneider, K., van den Born, L. I., Meire, F., Maumenee, I. H., Jacobson, S. G., Hoyng, C. B., Zrenner, E., Cremers, F. P. M., den Hollander, A. I.
|
|
<strong>IQCB1 mutations in patients with Leber congenital amaurosis.</strong>
|
|
Invest. Ophthal. Vis. Sci. 52: 834-839, 2011.
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|
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|
|
[PubMed: 20881296]
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[Full Text: https://doi.org/10.1167/iovs.10-5221]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 1/17/2018.
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|
|
</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Luo, X., He, Q., Huang, Y., Sheikh, M. S.
|
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<strong>Cloning and characterization of a p53 and DNA damage down-regulated gene PIQ that codes for a novel calmodulin-binding IQ motif protein and is up-regulated in gastrointestinal cancers.</strong>
|
|
Cancer Res. 65: 10725-10733, 2005.
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[PubMed: 16322217]
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[Full Text: https://doi.org/10.1158/0008-5472.CAN-05-1132]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Nomura, N., Miyajima, N., Sazuka, T., Tanaka, A., Kawarabayashi, Y., Sato, S., Nagase, T., Seki, N., Ishikawa, K., Tabata, S.
|
|
<strong>Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line, KG-1.</strong>
|
|
DNA Res. 1: 27-35, 1994. Note: Erratum: DNA Res. 2: 210 only, 1995.
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|
[PubMed: 7584026]
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[Full Text: https://doi.org/10.1093/dnares/1.1.27]
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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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Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others.
|
|
<strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong>
|
|
Nature Genet. 37: 282-288, 2005.
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|
[PubMed: 15723066]
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[Full Text: https://doi.org/10.1038/ng1520]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Schafer, T., Putz, M., Lienkamp, S., Ganner, A., Bergbreiter, A., Ramachandran, H., Gieloff, V., Gerner, M., Mattonet, C., Czarnecki, P. G., Sayer, J. A., Otto, E. A., Hildebrandt, F., Kramer-Zucker, A., Walz, G.
|
|
<strong>Genetic and physical interaction between the NPHP5 and NPHP6 gene products.</strong>
|
|
Hum. Molec. Genet. 17: 3655-3662, 2008. Note: Erratum: Hum. Molec. Genet. 18: 4226 only, 2009.
|
|
|
|
|
|
[PubMed: 18723859]
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[Full Text: https://doi.org/10.1093/hmg/ddn260]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Stone, E. M., Cideciyan, A. V., Aleman, T. S., Scheetz, T. E., Sumaroka, A., Ehlinger, M. A., Schwartz, S. B., Fishman, G. A., Traboulsi, E. I., Lam, B. L., Fulton, A. B., Mullins, R. F., Sheffield, V. C., Jacobson, S. G.
|
|
<strong>Variations in NPHP5 in patients with nonsyndromic Leber congenital amaurosis and Senior-Loken syndrome.</strong>
|
|
Arch. Ophthal. 129: 81-87, 2011.
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|
|
|
|
|
[PubMed: 21220633]
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[Full Text: https://doi.org/10.1001/archophthalmol.2010.330]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
|
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</span>
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</div>
|
|
<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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Matthew B. Gross - updated : 01/17/2018<br>Marla J. F. O'Neill - updated : 11/2/2012<br>Marla J. F. O'Neill - updated : 5/18/2011<br>Patricia A. Hartz - updated : 9/21/2010<br>Patricia A. Hartz - updated : 2/23/2006<br>Matthew B. Gross - updated : 3/11/2005<br>Victor A. McKusick - updated : 3/9/2005
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 3/3/2005
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</span>
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</div>
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</div>
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Edit History:
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<span class="mim-text-font">
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mgross : 01/17/2018<br>carol : 10/12/2015<br>mcolton : 3/30/2015<br>alopez : 4/30/2013<br>terry : 11/27/2012<br>carol : 11/2/2012<br>carol : 11/2/2012<br>wwang : 5/19/2011<br>terry : 5/18/2011<br>mgross : 9/21/2010<br>mgross : 3/2/2006<br>terry : 2/23/2006<br>mgross : 3/11/2005<br>terry : 3/9/2005<br>mgross : 3/4/2005
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medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
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