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Entry
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- *118423 - CHIMERIN 1; CHN1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*118423</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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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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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="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/118423">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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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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</ul>
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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-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 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=ENSG00000128656;t=ENST00000409900" 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=1123" 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=118423" 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="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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</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=ENSG00000128656;t=ENST00000409900" 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_001025201,NM_001206602,NM_001371513,NM_001371514,NM_001822,NR_038133" 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_001822" 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=118423" 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=00319&isoform_id=00319_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/CHN1" 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/35013,397935,913433,4502813,15030254,21903393,48145845,62089162,62822139,62822391,119631522,119631523,119631524,119631525,119631526,158260905,193786175,194374833,209364623,331028583,440575797,1403730346,1705100473,1705101733,1919514883,1919514886,1919514888,1919514890,1919514892,1919514895,1919514897,1919514900,1919514903,1919514905,1919514908,1919514911,1919514914,1919514918,1919514921,1919514923,1919514926,1919514929,1919514932,1919514934,1919514938,1919514942,1919514944,1919514948,1919514950" 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/P15882" 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=1123" 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=ENSG00000128656;t=ENST00000409900" 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=CHN1" 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=CHN1" 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+1123" 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/CHN1" 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:1123" 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/1123" 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=chr2&hgg_gene=ENST00000409900.9&hgg_start=174798809&hgg_end=175005381&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 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:1943" 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://medlineplus.gov/genetics/gene/chn1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=118423[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=118423[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/ENSG00000128656" 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=CHN1" 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=CHN1" 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=CHN1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CHN1&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/PA26473" 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:1943" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0029778.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1915674" 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/CHN1#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:1915674" 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/1123/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=1123" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00015267;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1934" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=CHN1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
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118423
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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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CHIMERIN 1; CHN1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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N-CHIMERIN; CHN<br />
|
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CHIMERIN, ALPHA-1<br />
|
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GTPase-ACTIVATING PROTEIN, RHO, 2; ARHGAP2<br />
|
|
RHO GTPase-ACTIVATING PROTEIN 2; RHOGAP2
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
|
|
<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
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</span>
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</p>
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</div>
|
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<div>
|
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<span class="h3 mim-font">
|
|
CHIMERIN, ALPHA-2, INCLUDED
|
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</span>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CHN1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CHN1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/2/792?start=-3&limit=10&highlight=792">2q31.1</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:174798809-175005381&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'})">2:174,798,809-175,005,381</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/792?start=-3&limit=10&highlight=792">
|
|
2q31.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Duane retraction syndrome 2
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/604356"> 604356 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/118423" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/118423" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</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="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
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<p><a href="#6" class="mim-tip-reference" title="Hall, C., Monfries, C., Smith, P., Lim, H. H., Kozma, R., Ahmed, S., Vanniasingham, V., Leung, T., Lim, L. <strong>Novel human brain cDNA encoding a 34,000 M(r) protein n-chimaerin, related to both the regulatory domain of protein kinase C and BCR, the product of the breakpoint cluster region gene.</strong> J. Molec. Biol. 211: 11-16, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2299665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2299665</a>] [<a href="https://doi.org/10.1016/0022-2836(90)90006-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2299665">Hall et al. (1990)</a> isolated a novel human brain cDNA sequence encoding n-chimerin, a 34-kD protein. They found that the N-terminal half shared almost 50% identity with sequences in the regulatory domain of protein kinase C (<a href="/entry/176960">176960</a>); the C-terminal half had 42% identity with the C-terminal region of BCR, the product of the breakpoint cluster region gene involved in the Philadelphia chromosome translocation (<a href="/entry/151410">151410</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2299665" 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>Also known as alpha-1-chimerin, n-chimerin is a brain GTPase-activating protein (GAP) for the RAS-related p21 (RAC). <a href="#7" class="mim-tip-reference" title="Hall, C., Sin, W. C., Teo, M., Michael, G. J., Smith, P., Dong, J. M., Lim, H. H., Manser, E., Spurr, N. K., Jones, T. A., Lim, L. <strong>Alpha-2-chimerin, an SH2-containing GTPase-activating protein for the ras-related protein p21-rac derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes.</strong> Molec. Cell. Biol. 13: 4986-4998, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8336731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8336731</a>] [<a href="https://doi.org/10.1128/mcb.13.8.4986-4998.1993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8336731">Hall et al. (1993)</a> found another form of chimerin, termed alpha-2-chimerin, and showed that it is the product of an alternately spliced transcript of the human n-chimerin gene. The mRNAs corresponding to the 2 forms of chimerin were expressed differently. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8336731" 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 Western blot analysis of mouse hippocampal lysates, <a href="#2" class="mim-tip-reference" title="Buttery, P., Beg, A. A., Chih, B., Broder, A., Mason, C. A., Scheiffele, P. <strong>The diacylglycerol-binding protein alpha-1-chimaerin regulates dendritic morphology.</strong> Proc. Nat. Acad. Sci. 103: 1924-1929, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16446429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16446429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16446429[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0510655103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16446429">Buttery et al. (2006)</a> found alpha-1-chimerin levels slowly increased during the first 2 weeks of postnatal development. Highest expression was in neurons of the hippocampus and cortex, as well as Purkinje cells in the cerebellum. Cultured hippocampal neurons also showed a developmental increase in alpha-1-chimerin, and expression was highly sensitive to synaptic activity inhibitors. Stimulation of phospholipase C-beta (PLCB; see <a href="/entry/607120">607120</a>)-coupled receptors recruited alpha-1-chimerin to the plasma membrane of cultured hippocampal neurons, and increased alpha-1-chimerin activity resulted in the pruning of dendritic spines and branches, which required both the diacylglycerol-binding and Rac GAP activity of alpha-1-chimerin. Suppression of alpha-1-chimerin resulted in increased process growth from the dendritic shaft and from spine heads. <a href="#2" class="mim-tip-reference" title="Buttery, P., Beg, A. A., Chih, B., Broder, A., Mason, C. A., Scheiffele, P. <strong>The diacylglycerol-binding protein alpha-1-chimaerin regulates dendritic morphology.</strong> Proc. Nat. Acad. Sci. 103: 1924-1929, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16446429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16446429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16446429[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0510655103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16446429">Buttery et al. (2006)</a> concluded that alpha-1-chimerin is an activity-dependent Rho GTPase regulator that is activated by PLCB-coupled cell surface receptors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16446429" 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>Ephrins and their receptors play critical roles in axon guidance and growth cone collapse by regulating small Rho GTPases. <a href="#9" class="mim-tip-reference" title="Shi, L., Fu, W.-Y., Hung, K.-W., Porchetta, C., Hall, C., Fu, A. K. Y., Ip, N. Y. <strong>Alpha-2-chimaerin interacts with EphA4 and regulates EphA4-dependent growth cone collapse.</strong> Proc. Nat. Acad. Sci. 104: 16347-16352, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17911252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17911252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17911252[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0706626104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17911252">Shi et al. (2007)</a> showed that alpha-2-chimerin was required for Epha4 (<a href="/entry/602188">602188</a>)-dependent growth cone collapse. Prominent expression of alpha-2-chimerin was detected in rat brain and cortical neurons and was enriched in postsynaptic density fractions. The SH2 domain of alpha-2-chimerin interacted specifically with Epha4 in rat brain in a kinase-dependent manner. Ephrin-A1 (EFNA1; <a href="/entry/191164">191164</a>)-stimulated activation of Epha4 resulted in phosphorylation of alpha-2-chimerin and increased alpha-2-chimerin GAP activity toward Rac1 (<a href="/entry/602048">602048</a>), which was required for Epha4-dependent growth cone collapse. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17911252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Hall, C., Sin, W. C., Teo, M., Michael, G. J., Smith, P., Dong, J. M., Lim, H. H., Manser, E., Spurr, N. K., Jones, T. A., Lim, L. <strong>Alpha-2-chimerin, an SH2-containing GTPase-activating protein for the ras-related protein p21-rac derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes.</strong> Molec. Cell. Biol. 13: 4986-4998, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8336731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8336731</a>] [<a href="https://doi.org/10.1128/mcb.13.8.4986-4998.1993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8336731">Hall et al. (1993)</a> mapped the human n-chimerin gene to chromosome 2q31-q32.1 by Southern analysis of a hybrid cell DNA panel and by fluorescence in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8336731" 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="#8" class="mim-tip-reference" title="Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others. <strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong> Science 321: 839-843, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18653847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18653847</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18653847[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/10.1126/science.1156121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18653847">Miyake et al. (2008)</a> found 7 missense mutations in the CHN1 gene (<a href="#0001">118423.0001</a>-<a href="#0007">118423.0007</a>) resulting in Duane retraction syndrome-2 (DURS2; <a href="/entry/604356">604356</a>). These gain-of-function mutations increased alpha-2-chimerin RacGAP activity in vitro. Several mutations appeared to enhance alpha-2-chimerin translocation to the cell membrane or enhanced its ability to self-associate. Expression of mutant alpha-2-chimerin constructs in chick embryos resulted in failure of oculomotor axons to innervate their target extraocular muscles. <a href="#8" class="mim-tip-reference" title="Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others. <strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong> Science 321: 839-843, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18653847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18653847</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18653847[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/10.1126/science.1156121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18653847">Miyake et al. (2008)</a> concluded that alpha-2-chimerin has a critical developmental function in ocular motor axon pathfinding. Five of the 7 mutations resulted in nonconservative amino acid substitutions. All were predicted to alter amino acids that are conserved in 8 different species. All 7 nucleotide substitutions cosegregated with the affected haplotypes, and none were present in online SNP databases or on 788 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18653847" 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 affected members of 2 families segregating DURS2 as a dominant trait, <a href="#3" class="mim-tip-reference" title="Chan, W.-M., Miyake, N., Zhu-Tam, L., Andrews, C., Engle, E. C. <strong>Two novel CHN1 mutations in 2 families with Duane retraction syndrome.</strong> Arch. Ophthal. 129: 649-652, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21555619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21555619</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21555619[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.2011.84" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21555619">Chan et al. (2011)</a> identified heterozygous missense mutations in the CHN1 gene (<a href="#0008">118423.0008</a>-<a href="#0009">118423.0009</a>). Both mutations altered residues that participate in intramolecular interactions that stabilize the inactive, closed conformation of alpha-2-chimerin and are thus predicted to result in its hyperactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21555619" 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 a large Mexican American family with Duane retraction syndrome-2 (DURS; <a href="/entry/604356">604356</a>) initially described by <a href="#4" class="mim-tip-reference" title="Engle, E. C., Andrews, C., Law, K., Demer, J. L. <strong>Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.</strong> Invest. Ophthal. Vis. Sci. 48: 189-193, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17197532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17197532</a>] [<a href="https://doi.org/10.1167/iovs.06-0631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17197532">Engle et al. (2007)</a>, <a href="#8" class="mim-tip-reference" title="Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others. <strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong> Science 321: 839-843, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18653847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18653847</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18653847[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/10.1126/science.1156121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18653847">Miyake et al. (2008)</a> identified an A-to-T transversion at nucleotide 60 in exon 3 of the CHN1 gene, resulting in a leucine-to-phenylalanine substitution at codon 20 (L20F). This mutation segregated with the affected family members and was not identified in 788 control subjects. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18653847+17197532" 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>.0002 DUANE RETRACTION SYNDROME 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912793 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912793;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/rs121912793?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=rs121912793" 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=rs121912793" 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=RCV000019106" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019106" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019106</a>
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<p>In a Mexican family segregating Duane retraction syndrome-2 (DURS; <a href="/entry/604356">604356</a>), <a href="#8" class="mim-tip-reference" title="Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others. <strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong> Science 321: 839-843, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18653847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18653847</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18653847[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/10.1126/science.1156121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18653847">Miyake et al. (2008)</a> identified a T-to-G transversion at nucleotide 378 in exon 6 of the CHN1 gene, resulting in an isoleucine-to-methionine substitution at codon 126 (I126M). This mutation segregated with the disorder in the family and was not identified in 788 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18653847" 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">rs121912794 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912794;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=rs121912794" 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=rs121912794" 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=RCV000019107" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019107" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019107</a>
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<p>In a US Caucasian family with Duane retraction syndrome-2 (DURS; <a href="/entry/604356">604356</a>) initially described by <a href="#4" class="mim-tip-reference" title="Engle, E. C., Andrews, C., Law, K., Demer, J. L. <strong>Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.</strong> Invest. Ophthal. Vis. Sci. 48: 189-193, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17197532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17197532</a>] [<a href="https://doi.org/10.1167/iovs.06-0631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17197532">Engle et al. (2007)</a>, <a href="#8" class="mim-tip-reference" title="Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others. <strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong> Science 321: 839-843, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18653847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18653847</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18653847[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/10.1126/science.1156121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18653847">Miyake et al. (2008)</a> identified a T-to-C transition at nucleotide 427 in exon 6 of the CHN1 gene, resulting in a tyrosine-to-histidine substitution at codon 143 (Y143H). This mutation segregated with affected members in the family and was not identified in 788 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18653847+17197532" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 DUANE RETRACTION SYNDROME 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912795 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912795;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=rs121912795" 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=rs121912795" 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=RCV000019108" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019108" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019108</a>
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<p>In a 4-generation family with Duane retraction syndrome-2 (DURS; <a href="/entry/604356">604356</a>) initially described by <a href="#5" class="mim-tip-reference" title="Evans, J. C., Frayling, T. M., Ellard, S., Gutowski, N. J. <strong>Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.</strong> Hum. Genet. 106: 636-638, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942112</a>] [<a href="https://doi.org/10.1007/s004390000311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10942112">Evans et al. (2000)</a>, <a href="#8" class="mim-tip-reference" title="Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others. <strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong> Science 321: 839-843, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18653847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18653847</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18653847[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/10.1126/science.1156121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18653847">Miyake et al. (2008)</a> identified a C-to-T transition at nucleotide 668 in exon 8 of the CHN1 gene, resulting in an alanine-to-valine substitution at codon 223 (A223V). This mutation segregated with affected members in the pedigree and was not identified in 788 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10942112+18653847" 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">rs121912796 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912796;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=rs121912796" 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=rs121912796" 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=RCV000019109" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019109" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019109</a>
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<p>In an Italian Caucasian segregating Duane retraction syndrome-2 (DURS; <a href="/entry/604356">604356</a>), <a href="#8" class="mim-tip-reference" title="Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others. <strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong> Science 321: 839-843, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18653847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18653847</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18653847[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/10.1126/science.1156121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18653847">Miyake et al. (2008)</a> identified a G-to-A transition at nucleotide 682 in exon 8 of the CHN1 gene, resulting in a glycine-to-serine substitution at codon 228 (G228S). This mutation was not identified in 788 control chromosomes, and segregated with the phenotype in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18653847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 DUANE RETRACTION SYNDROME 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912797 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912797;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=rs121912797" 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=rs121912797" 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=RCV000019110" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019110" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019110</a>
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<p>In a large Mexican family with Duane retraction syndrome-2 (DURS2; <a href="/entry/604356">604356</a>) previously reported by <a href="#1" class="mim-tip-reference" title="Appukuttan, B., Gillanders, E., Juo, S.-H., Freas-Lutz, D., Ott, S., Sood, R., Van Auken, A., Bailey-Wilson, J., Wang, X., Patel, R. J., Robbins, C. M., Chung, M., Annett, G., Weinberg, K., Borchert, M. S., Trent, J. M., Brownstein, M. J., Stout, J. T. <strong>Localization of a gene for Duane retraction syndrome to chromosome 2q31.</strong> Am. J. Hum. Genet. 65: 1639-1646, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10577917[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302656" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10577917">Appukuttan et al. (1999)</a>, <a href="#8" class="mim-tip-reference" title="Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others. <strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong> Science 321: 839-843, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18653847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18653847</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18653847[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/10.1126/science.1156121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18653847">Miyake et al. (2008)</a> identified a C-to-A transversion at nucleotide 755 in exon 9 of the CHN1 gene, resulting in a proline-to-glutamine substitution at codon 252 (P252Q). This mutation segregated with the phenotype in the family, and was not identified in 788 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18653847+10577917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 DUANE RETRACTION SYNDROME 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912798 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912798;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=rs121912798" 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=rs121912798" 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=RCV000019111" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019111" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019111</a>
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<p>In a U.S. Caucasian family segregating Duane retraction syndrome-2 (DURS2; <a href="/entry/604356">604356</a>), <a href="#8" class="mim-tip-reference" title="Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others. <strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong> Science 321: 839-843, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18653847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18653847</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18653847[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/10.1126/science.1156121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18653847">Miyake et al. (2008)</a> identified a G-to-A transition at nucleotide 937 in exon 10 of the CHN1 gene, resulting in a glutamic acid-to-lysine substitution at codon 313 (E313K). This mutation segregated with affected family members of the pedigree and was not identified in 788 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18653847" 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>.0008 DUANE RETRACTION SYNDROME 2</strong>
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CHN1, PRO141LEU
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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> rs387906599 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906599;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/rs387906599?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=rs387906599" 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=rs387906599" 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=RCV000022463" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022463" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022463</a>
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<p>In affected members of a family segregating Duane retraction syndrome-2 (DURS2; <a href="/entry/604356">604356</a>), <a href="#3" class="mim-tip-reference" title="Chan, W.-M., Miyake, N., Zhu-Tam, L., Andrews, C., Engle, E. C. <strong>Two novel CHN1 mutations in 2 families with Duane retraction syndrome.</strong> Arch. Ophthal. 129: 649-652, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21555619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21555619</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21555619[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.2011.84" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21555619">Chan et al. (2011)</a> identified heterozygosity for a 422C-T transition in the CHN1 gene, resulting in a pro141-to-leu (P141L) substitution. Pro141 participates in intramolecular interactions that stabilize the inactive, closed conformation of alpha-2-chimerin and is thus predicted to result in its hyperactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21555619" 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>.0009 DUANE RETRACTION SYNDROME 2</strong>
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CHN1, PRO252SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906600 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906600;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=rs387906600" 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=rs387906600" 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=RCV000022464" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022464" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022464</a>
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<p>In affected members of a family segregating Duane retraction syndrome-2 (DURS2; <a href="/entry/604356">604356</a>), <a href="#3" class="mim-tip-reference" title="Chan, W.-M., Miyake, N., Zhu-Tam, L., Andrews, C., Engle, E. C. <strong>Two novel CHN1 mutations in 2 families with Duane retraction syndrome.</strong> Arch. Ophthal. 129: 649-652, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21555619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21555619</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21555619[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.2011.84" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21555619">Chan et al. (2011)</a> identified heterozygosity for a 752C-T transition in the CHN1 gene, resulting in a pro252-to-ser (P252S) substitution. Pro252 participates in intramolecular interactions that stabilize the inactive, closed conformation of alpha-2-chimerin and is thus predicted to result in its hyperactivation. <a href="#3" class="mim-tip-reference" title="Chan, W.-M., Miyake, N., Zhu-Tam, L., Andrews, C., Engle, E. C. <strong>Two novel CHN1 mutations in 2 families with Duane retraction syndrome.</strong> Arch. Ophthal. 129: 649-652, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21555619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21555619</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21555619[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.2011.84" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21555619">Chan et al. (2011)</a> noted that another mutation at this codon (P252G; <a href="#0006">118423.0006</a>) had been found to cause DURS2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21555619" 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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<a id="Appukuttan1999" class="mim-anchor"></a>
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Appukuttan, B., Gillanders, E., Juo, S.-H., Freas-Lutz, D., Ott, S., Sood, R., Van Auken, A., Bailey-Wilson, J., Wang, X., Patel, R. J., Robbins, C. M., Chung, M., Annett, G., Weinberg, K., Borchert, M. S., Trent, J. M., Brownstein, M. J., Stout, J. T.
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<strong>Localization of a gene for Duane retraction syndrome to chromosome 2q31.</strong>
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Am. J. Hum. Genet. 65: 1639-1646, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10577917[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=10577917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302656" target="_blank">Full Text</a>]
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Buttery, P., Beg, A. A., Chih, B., Broder, A., Mason, C. A., Scheiffele, P.
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<strong>The diacylglycerol-binding protein alpha-1-chimaerin regulates dendritic morphology.</strong>
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Proc. Nat. Acad. Sci. 103: 1924-1929, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16446429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16446429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16446429[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=16446429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0510655103" target="_blank">Full Text</a>]
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Chan, W.-M., Miyake, N., Zhu-Tam, L., Andrews, C., Engle, E. C.
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<strong>Two novel CHN1 mutations in 2 families with Duane retraction syndrome.</strong>
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Arch. Ophthal. 129: 649-652, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21555619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21555619</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21555619[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=21555619" 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.2011.84" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Engle2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Engle, E. C., Andrews, C., Law, K., Demer, J. L.
|
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<strong>Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.</strong>
|
|
Invest. Ophthal. Vis. Sci. 48: 189-193, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17197532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17197532</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17197532" 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.06-0631" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Evans2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Evans, J. C., Frayling, T. M., Ellard, S., Gutowski, N. J.
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|
<strong>Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.</strong>
|
|
Hum. Genet. 106: 636-638, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942112</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10942112" 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/10.1007/s004390000311" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Hall1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hall, C., Monfries, C., Smith, P., Lim, H. H., Kozma, R., Ahmed, S., Vanniasingham, V., Leung, T., Lim, L.
|
|
<strong>Novel human brain cDNA encoding a 34,000 M(r) protein n-chimaerin, related to both the regulatory domain of protein kinase C and BCR, the product of the breakpoint cluster region gene.</strong>
|
|
J. Molec. Biol. 211: 11-16, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2299665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2299665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2299665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0022-2836(90)90006-8" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Hall1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Hall, C., Sin, W. C., Teo, M., Michael, G. J., Smith, P., Dong, J. M., Lim, H. H., Manser, E., Spurr, N. K., Jones, T. A., Lim, L.
|
|
<strong>Alpha-2-chimerin, an SH2-containing GTPase-activating protein for the ras-related protein p21-rac derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes.</strong>
|
|
Molec. Cell. Biol. 13: 4986-4998, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8336731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8336731</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8336731" 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/10.1128/mcb.13.8.4986-4998.1993" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Miyake2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others.
|
|
<strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong>
|
|
Science 321: 839-843, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18653847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18653847</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18653847[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=18653847" 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/10.1126/science.1156121" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Shi2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shi, L., Fu, W.-Y., Hung, K.-W., Porchetta, C., Hall, C., Fu, A. K. Y., Ip, N. Y.
|
|
<strong>Alpha-2-chimaerin interacts with EphA4 and regulates EphA4-dependent growth cone collapse.</strong>
|
|
Proc. Nat. Acad. Sci. 104: 16347-16352, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17911252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17911252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17911252[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=17911252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0706626104" target="_blank">Full Text</a>]
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</p>
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</div>
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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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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Jane Kelly - updated : 8/15/2011
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 9/3/2008<br>Patricia A. Hartz - updated : 11/8/2007<br>Patricia A. Hartz - updated : 3/24/2006
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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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>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 4/5/1994
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/01/2020
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/17/2011<br>terry : 8/15/2011<br>alopez : 9/12/2008<br>alopez : 9/12/2008<br>terry : 9/3/2008<br>mgross : 11/8/2007<br>carol : 10/16/2006<br>mgross : 4/19/2006<br>wwang : 3/28/2006<br>terry : 3/24/2006<br>psherman : 7/17/1998<br>psherman : 7/17/1998<br>carol : 4/5/1994
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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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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
|
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<strong>*</strong> 118423
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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CHIMERIN 1; CHN1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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N-CHIMERIN; CHN<br />
|
|
CHIMERIN, ALPHA-1<br />
|
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GTPase-ACTIVATING PROTEIN, RHO, 2; ARHGAP2<br />
|
|
RHO GTPase-ACTIVATING PROTEIN 2; RHOGAP2
|
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</span>
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
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CHIMERIN, ALPHA-2, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: CHN1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
|
|
Cytogenetic location: 2q31.1
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 2:174,798,809-175,005,381 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
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</p>
|
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
2q31.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Duane retraction syndrome 2
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
604356
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
|
|
|
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|
<span class="mim-text-font">
|
|
<p>Hall et al. (1990) isolated a novel human brain cDNA sequence encoding n-chimerin, a 34-kD protein. They found that the N-terminal half shared almost 50% identity with sequences in the regulatory domain of protein kinase C (176960); the C-terminal half had 42% identity with the C-terminal region of BCR, the product of the breakpoint cluster region gene involved in the Philadelphia chromosome translocation (151410). </p><p>Also known as alpha-1-chimerin, n-chimerin is a brain GTPase-activating protein (GAP) for the RAS-related p21 (RAC). Hall et al. (1993) found another form of chimerin, termed alpha-2-chimerin, and showed that it is the product of an alternately spliced transcript of the human n-chimerin gene. The mRNAs corresponding to the 2 forms of chimerin were expressed differently. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By Western blot analysis of mouse hippocampal lysates, Buttery et al. (2006) found alpha-1-chimerin levels slowly increased during the first 2 weeks of postnatal development. Highest expression was in neurons of the hippocampus and cortex, as well as Purkinje cells in the cerebellum. Cultured hippocampal neurons also showed a developmental increase in alpha-1-chimerin, and expression was highly sensitive to synaptic activity inhibitors. Stimulation of phospholipase C-beta (PLCB; see 607120)-coupled receptors recruited alpha-1-chimerin to the plasma membrane of cultured hippocampal neurons, and increased alpha-1-chimerin activity resulted in the pruning of dendritic spines and branches, which required both the diacylglycerol-binding and Rac GAP activity of alpha-1-chimerin. Suppression of alpha-1-chimerin resulted in increased process growth from the dendritic shaft and from spine heads. Buttery et al. (2006) concluded that alpha-1-chimerin is an activity-dependent Rho GTPase regulator that is activated by PLCB-coupled cell surface receptors. </p><p>Ephrins and their receptors play critical roles in axon guidance and growth cone collapse by regulating small Rho GTPases. Shi et al. (2007) showed that alpha-2-chimerin was required for Epha4 (602188)-dependent growth cone collapse. Prominent expression of alpha-2-chimerin was detected in rat brain and cortical neurons and was enriched in postsynaptic density fractions. The SH2 domain of alpha-2-chimerin interacted specifically with Epha4 in rat brain in a kinase-dependent manner. Ephrin-A1 (EFNA1; 191164)-stimulated activation of Epha4 resulted in phosphorylation of alpha-2-chimerin and increased alpha-2-chimerin GAP activity toward Rac1 (602048), which was required for Epha4-dependent growth cone collapse. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Hall et al. (1993) mapped the human n-chimerin gene to chromosome 2q31-q32.1 by Southern analysis of a hybrid cell DNA panel and by fluorescence in situ hybridization. </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>Miyake et al. (2008) found 7 missense mutations in the CHN1 gene (118423.0001-118423.0007) resulting in Duane retraction syndrome-2 (DURS2; 604356). These gain-of-function mutations increased alpha-2-chimerin RacGAP activity in vitro. Several mutations appeared to enhance alpha-2-chimerin translocation to the cell membrane or enhanced its ability to self-associate. Expression of mutant alpha-2-chimerin constructs in chick embryos resulted in failure of oculomotor axons to innervate their target extraocular muscles. Miyake et al. (2008) concluded that alpha-2-chimerin has a critical developmental function in ocular motor axon pathfinding. Five of the 7 mutations resulted in nonconservative amino acid substitutions. All were predicted to alter amino acids that are conserved in 8 different species. All 7 nucleotide substitutions cosegregated with the affected haplotypes, and none were present in online SNP databases or on 788 control chromosomes. </p><p>In affected members of 2 families segregating DURS2 as a dominant trait, Chan et al. (2011) identified heterozygous missense mutations in the CHN1 gene (118423.0008-118423.0009). Both mutations altered residues that participate in intramolecular interactions that stabilize the inactive, closed conformation of alpha-2-chimerin and are thus predicted to result in its hyperactivation. </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 DUANE RETRACTION SYNDROME 2</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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CHN1, LEU20PHE
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<br />
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SNP: rs121912792,
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gnomAD: rs121912792,
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ClinVar: RCV000019105
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a large Mexican American family with Duane retraction syndrome-2 (DURS; 604356) initially described by Engle et al. (2007), Miyake et al. (2008) identified an A-to-T transversion at nucleotide 60 in exon 3 of the CHN1 gene, resulting in a leucine-to-phenylalanine substitution at codon 20 (L20F). This mutation segregated with the affected family members and was not identified in 788 control subjects. </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">
|
|
<strong>.0002 DUANE RETRACTION SYNDROME 2</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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CHN1, ILE126MET
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<br />
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SNP: rs121912793,
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gnomAD: rs121912793,
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ClinVar: RCV000019106
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a Mexican family segregating Duane retraction syndrome-2 (DURS; 604356), Miyake et al. (2008) identified a T-to-G transversion at nucleotide 378 in exon 6 of the CHN1 gene, resulting in an isoleucine-to-methionine substitution at codon 126 (I126M). This mutation segregated with the disorder in the family and was not identified in 788 control chromosomes. </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>
|
|
<span class="mim-font">
|
|
<strong>.0003 DUANE RETRACTION SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
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|
</div>
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<div>
|
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<span class="mim-text-font">
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CHN1, TYR143HIS
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<br />
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SNP: rs121912794,
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|
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ClinVar: RCV000019107
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a US Caucasian family with Duane retraction syndrome-2 (DURS; 604356) initially described by Engle et al. (2007), Miyake et al. (2008) identified a T-to-C transition at nucleotide 427 in exon 6 of the CHN1 gene, resulting in a tyrosine-to-histidine substitution at codon 143 (Y143H). This mutation segregated with affected members in the family and was not identified in 788 controls. </p>
|
|
</span>
|
|
</div>
|
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 DUANE RETRACTION SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
CHN1, ALA223VAL
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|
<br />
|
|
|
|
SNP: rs121912795,
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|
|
|
|
|
|
|
ClinVar: RCV000019108
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4-generation family with Duane retraction syndrome-2 (DURS; 604356) initially described by Evans et al. (2000), Miyake et al. (2008) identified a C-to-T transition at nucleotide 668 in exon 8 of the CHN1 gene, resulting in an alanine-to-valine substitution at codon 223 (A223V). This mutation segregated with affected members in the pedigree and was not identified in 788 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 DUANE RETRACTION SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CHN1, GLY228SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912796,
|
|
|
|
|
|
|
|
ClinVar: RCV000019109
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian Caucasian segregating Duane retraction syndrome-2 (DURS; 604356), Miyake et al. (2008) identified a G-to-A transition at nucleotide 682 in exon 8 of the CHN1 gene, resulting in a glycine-to-serine substitution at codon 228 (G228S). This mutation was not identified in 788 control chromosomes, and segregated with the phenotype in the family. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 DUANE RETRACTION SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CHN1, PRO252GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912797,
|
|
|
|
|
|
|
|
ClinVar: RCV000019110
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a large Mexican family with Duane retraction syndrome-2 (DURS2; 604356) previously reported by Appukuttan et al. (1999), Miyake et al. (2008) identified a C-to-A transversion at nucleotide 755 in exon 9 of the CHN1 gene, resulting in a proline-to-glutamine substitution at codon 252 (P252Q). This mutation segregated with the phenotype in the family, and was not identified in 788 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 DUANE RETRACTION SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CHN1, GLU313LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912798,
|
|
|
|
|
|
|
|
ClinVar: RCV000019111
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a U.S. Caucasian family segregating Duane retraction syndrome-2 (DURS2; 604356), Miyake et al. (2008) identified a G-to-A transition at nucleotide 937 in exon 10 of the CHN1 gene, resulting in a glutamic acid-to-lysine substitution at codon 313 (E313K). This mutation segregated with affected family members of the pedigree and was not identified in 788 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 DUANE RETRACTION SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CHN1, PRO141LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906599,
|
|
|
|
|
|
gnomAD: rs387906599,
|
|
|
|
|
|
ClinVar: RCV000022463
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family segregating Duane retraction syndrome-2 (DURS2; 604356), Chan et al. (2011) identified heterozygosity for a 422C-T transition in the CHN1 gene, resulting in a pro141-to-leu (P141L) substitution. Pro141 participates in intramolecular interactions that stabilize the inactive, closed conformation of alpha-2-chimerin and is thus predicted to result in its hyperactivation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 DUANE RETRACTION SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CHN1, PRO252SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906600,
|
|
|
|
|
|
|
|
ClinVar: RCV000022464
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family segregating Duane retraction syndrome-2 (DURS2; 604356), Chan et al. (2011) identified heterozygosity for a 752C-T transition in the CHN1 gene, resulting in a pro252-to-ser (P252S) substitution. Pro252 participates in intramolecular interactions that stabilize the inactive, closed conformation of alpha-2-chimerin and is thus predicted to result in its hyperactivation. Chan et al. (2011) noted that another mutation at this codon (P252G; 118423.0006) had been found to cause DURS2. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Appukuttan, B., Gillanders, E., Juo, S.-H., Freas-Lutz, D., Ott, S., Sood, R., Van Auken, A., Bailey-Wilson, J., Wang, X., Patel, R. J., Robbins, C. M., Chung, M., Annett, G., Weinberg, K., Borchert, M. S., Trent, J. M., Brownstein, M. J., Stout, J. T.
|
|
<strong>Localization of a gene for Duane retraction syndrome to chromosome 2q31.</strong>
|
|
Am. J. Hum. Genet. 65: 1639-1646, 1999.
|
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|
|
|
|
[PubMed: 10577917]
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|
[Full Text: https://doi.org/10.1086/302656]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Buttery, P., Beg, A. A., Chih, B., Broder, A., Mason, C. A., Scheiffele, P.
|
|
<strong>The diacylglycerol-binding protein alpha-1-chimaerin regulates dendritic morphology.</strong>
|
|
Proc. Nat. Acad. Sci. 103: 1924-1929, 2006.
|
|
|
|
|
|
[PubMed: 16446429]
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|
|
[Full Text: https://doi.org/10.1073/pnas.0510655103]
|
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</p>
|
|
</li>
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chan, W.-M., Miyake, N., Zhu-Tam, L., Andrews, C., Engle, E. C.
|
|
<strong>Two novel CHN1 mutations in 2 families with Duane retraction syndrome.</strong>
|
|
Arch. Ophthal. 129: 649-652, 2011.
|
|
|
|
|
|
[PubMed: 21555619]
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|
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|
|
[Full Text: https://doi.org/10.1001/archophthalmol.2011.84]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Engle, E. C., Andrews, C., Law, K., Demer, J. L.
|
|
<strong>Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.</strong>
|
|
Invest. Ophthal. Vis. Sci. 48: 189-193, 2007.
|
|
|
|
|
|
[PubMed: 17197532]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1167/iovs.06-0631]
|
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|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Evans, J. C., Frayling, T. M., Ellard, S., Gutowski, N. J.
|
|
<strong>Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.</strong>
|
|
Hum. Genet. 106: 636-638, 2000.
|
|
|
|
|
|
[PubMed: 10942112]
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|
|
[Full Text: https://doi.org/10.1007/s004390000311]
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|
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Hall, C., Monfries, C., Smith, P., Lim, H. H., Kozma, R., Ahmed, S., Vanniasingham, V., Leung, T., Lim, L.
|
|
<strong>Novel human brain cDNA encoding a 34,000 M(r) protein n-chimaerin, related to both the regulatory domain of protein kinase C and BCR, the product of the breakpoint cluster region gene.</strong>
|
|
J. Molec. Biol. 211: 11-16, 1990.
|
|
|
|
|
|
[PubMed: 2299665]
|
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|
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|
|
[Full Text: https://doi.org/10.1016/0022-2836(90)90006-8]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hall, C., Sin, W. C., Teo, M., Michael, G. J., Smith, P., Dong, J. M., Lim, H. H., Manser, E., Spurr, N. K., Jones, T. A., Lim, L.
|
|
<strong>Alpha-2-chimerin, an SH2-containing GTPase-activating protein for the ras-related protein p21-rac derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes.</strong>
|
|
Molec. Cell. Biol. 13: 4986-4998, 1993.
|
|
|
|
|
|
[PubMed: 8336731]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1128/mcb.13.8.4986-4998.1993]
|
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|
|
</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
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Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others.
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<strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong>
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Science 321: 839-843, 2008.
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[PubMed: 18653847]
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[Full Text: https://doi.org/10.1126/science.1156121]
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Shi, L., Fu, W.-Y., Hung, K.-W., Porchetta, C., Hall, C., Fu, A. K. Y., Ip, N. Y.
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<strong>Alpha-2-chimaerin interacts with EphA4 and regulates EphA4-dependent growth cone collapse.</strong>
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Proc. Nat. Acad. Sci. 104: 16347-16352, 2007.
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[PubMed: 17911252]
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[Full Text: https://doi.org/10.1073/pnas.0706626104]
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Jane Kelly - updated : 8/15/2011<br>Ada Hamosh - updated : 9/3/2008<br>Patricia A. Hartz - updated : 11/8/2007<br>Patricia A. Hartz - updated : 3/24/2006
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