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<title>
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Entry
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- *173321 - SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 6; SERPINB6
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- OMIM
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*173321</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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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/173321">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000124570;t=ENST00000380539" 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=5269" 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=173321" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000124570;t=ENST00000380539" 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_001195291,NM_001271822,NM_001271823,NM_001271824,NM_001271825,NM_001297699,NM_001297700,NM_001374515,NM_001374516,NM_001374517,NM_004568,NR_164657,XM_011514672,XM_017010941,XM_024446465,XM_047418883,XM_047418884,XM_047418885,XM_047418887,XM_047418888,XM_047418889,XM_047418890,XM_047418891,XM_047418892,XM_047418893" 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_004568" 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=173321" 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=01413&isoform_id=01413_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/SERPINB6" 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/297412,12655087,27462072,31874844,41152086,62088706,68533586,119575501,119575502,119575503,119575504,119575505,119575506,119575507,119575508,119575509,119575510,161784343,189069489,425876766,425876768,425876770,425876772,425876796,663071052,663071054,767940188,1034650523,1370508193,1756309433,1756309435,1756309467,2217361762,2217361765,2217361767,2217361769,2217361771,2217361773,2217361775,2217361777,2217361779,2217361782,2462608885,2462608887,2462608889,2462608891,2462608893,2462608895,2462608897,2462608899,2462608901,2462608903" 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/P35237" 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=5269" 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=ENSG00000124570;t=ENST00000380539" 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=SERPINB6" 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=SERPINB6" 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+5269" 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/SERPINB6" 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:5269" 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/5269" 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=chr6&hgg_gene=ENST00000380539.7&hgg_start=2948159&hgg_end=2971793&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8950" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:8950" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=173321[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=173321[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/ENSG00000124570" 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=SERPINB6" 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=SERPINB6" 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=SERPINB6" 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=SERPINB6&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/PA35516" 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:8950" 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/FBgn0024294.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/search?q=MGI:103123 MGI:2145481 MGI:2667778 MGI:2667783 MGI:894688" 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/SERPINB6#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/batch/summary?idType=MGI&ids=MGI:103123 MGI:2145481 MGI:2667778 MGI:2667783 MGI:894688" 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/5269/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=5269" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00005647;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00005647 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00005648;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00005648 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00005649;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00005649 </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 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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5269" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=SERPINB6&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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173321
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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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SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 6; SERPINB6
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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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PROTEASE INHIBITOR 6; PI6<br />
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PLACENTAL THROMBIN INHIBITOR; PTI<br />
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SPI3, MOUSE, HOMOLOG OF; SPI3
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SERPINB6" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SERPINB6</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/6/18?start=-3&limit=10&highlight=18">6p25.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:2948159-2971793&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'})">6:2,948,159-2,971,793</a> </span>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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6p25.2
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?Deafness, autosomal recessive 91
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<a href="/entry/613453"> 613453 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/173321" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/173321" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<p><a href="#2" class="mim-tip-reference" title="Coughlin, P., Sun, J., Cerruti, L., Salem, H. H., Bird, P. <strong>Cloning and molecular characterization of a human intracellular serine proteinase inhibitor.</strong> Proc. Nat. Acad. Sci. 90: 9417-9421, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8415716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8415716</a>] [<a href="https://doi.org/10.1073/pnas.90.20.9417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8415716">Coughlin et al. (1993)</a> described a cDNA encoding a serine proteinase inhibitor present in placental tissue and in the cytosolic fraction of the leukemic cell line K562. On the basis of its interaction with thrombin, through which it was discovered, the inhibitor was operationally named the placental thrombin inhibitor (PTI). Amino acid sequence comparisons suggested that its reactive center is located at arg341 and cys342, that it lacks a classic N-terminal signal sequence, and that it has the highest degree of similarity to intracellular serine proteinase inhibitors (serpins), such as the human monocyte/neutrophil elastase inhibitor (ELANH2; <a href="/entry/130135">130135</a>). Analysis of human tissue mRNA indicated that PTI is expressed widely, with the highest levels in cardiac and skeletal muscle and placenta. <a href="#2" class="mim-tip-reference" title="Coughlin, P., Sun, J., Cerruti, L., Salem, H. H., Bird, P. <strong>Cloning and molecular characterization of a human intracellular serine proteinase inhibitor.</strong> Proc. Nat. Acad. Sci. 90: 9417-9421, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8415716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8415716</a>] [<a href="https://doi.org/10.1073/pnas.90.20.9417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8415716">Coughlin et al. (1993)</a> concluded that PTI is a member of an emerging class of intracellular serpins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8415716" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Sun, J., Rose, J. B., Bird, P. <strong>Gene structure, chromosomal localization, and expression of the murine homologue of human proteinase inhibitor 6 (PI-6) suggests divergence of PI-6 from the ovalbumin serpins.</strong> J. Biol. Chem. 270: 16089-16096, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7608171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7608171</a>] [<a href="https://doi.org/10.1074/jbc.270.27.16089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7608171">Sun et al. (1995)</a> showed that expression of the mouse PI6 homolog, Spi3, is developmentally regulated, and that, unlike the situation in the human, Spi3 is absent from the mouse placenta. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7608171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Nishibori, M., Ohtsuka, A., Kawabata, M., Nakaya, N., Murakami, T., Saeki, K. <strong>A novel serpin-like protein, B-43, exists in both neurons and astrocytes: an immunohistochemical study in the parietal region of the bovine brain.</strong> Neurosci. Lett. 200: 125-128, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8614560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8614560</a>] [<a href="https://doi.org/10.1016/0304-3940(95)12095-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8614560">Nishibori et al. (1995)</a> isolated a serum protease, designated B43, from bovine brain. They used histochemical staining to demonstrate its presence in fibrous astroglial cells, particularly in endfeet-like cellular structures, suggesting its involvement in the blood-brain barrier. Partial amino acid sequence of the protease suggested that it was the homolog of human PI6 and mouse Spi3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8614560" 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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<br />
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<a id="geneStructure" class="mim-anchor"></a>
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<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</h4>
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<p><a href="#9" class="mim-tip-reference" title="Sun, J., Rose, J. B., Bird, P. <strong>Gene structure, chromosomal localization, and expression of the murine homologue of human proteinase inhibitor 6 (PI-6) suggests divergence of PI-6 from the ovalbumin serpins.</strong> J. Biol. Chem. 270: 16089-16096, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7608171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7608171</a>] [<a href="https://doi.org/10.1074/jbc.270.27.16089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7608171">Sun et al. (1995)</a> determined that the mouse Spi3 gene spans 20 kb, contains 7 exons and 6 introns, and contains a TATA motif 24 bp upstream of the transcriptional start site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7608171" 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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<br />
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<a id="mapping" class="mim-anchor"></a>
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<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Mapping</strong>
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<p><a href="#1" class="mim-tip-reference" title="Coughlin, P., Nicholl, J., Sun, J., Salem, H., Bird, P., Sutherland, G. R. <strong>Chromosomal mapping of the human proteinase inhibitor 6 (PI6) gene to 6p25 by fluorescence in situ hybridization.</strong> Genomics 26: 431-433, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7601482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7601482</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80240-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7601482">Coughlin et al. (1995)</a> used fluorescence in situ hybridization to map the SERPINB6 gene to chromosome 6p25. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7601482" 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>While studying a cluster of serine proteinase inhibitors of the ovalbumin family, including maspin (SERPINB6; <a href="/entry/154790">154790</a>) located on chromosome 18q21.3, <a href="#6" class="mim-tip-reference" title="Schneider, S. S., Schick, C., Fish, K. E., Miller, E., Pena, J. C., Treter, S. D., Hui, S. M., Silverman, G. A. <strong>A serine proteinase inhibitor locus at 18q21.3 contains a tandem duplication of the human squamous cell carcinoma antigen gene.</strong> Proc. Nat. Acad. Sci. 92: 3147-3151, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7724531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7724531</a>] [<a href="https://doi.org/10.1073/pnas.92.8.3147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7724531">Schneider et al. (1995)</a> prepared PCR primer sets for the 3-prime untranslated region of PTI. Using the NIGMS monochromosomal somatic cell hybrid panel, they mapped the PTI gene to chromosome 6. <a href="#3" class="mim-tip-reference" title="Evans, E., Cooley, J., Remold-O'Donnell, E. <strong>Characterization and chromosomal localization of ELANH2, the gene encoding human monocyte/neutrophil elastase inhibitor.</strong> Genomics 28: 235-240, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530031</a>] [<a href="https://doi.org/10.1006/geno.1995.1136" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530031">Evans et al. (1995)</a> confirmed the assignment to chromosome 6 and regionalized it to 6pter-p24 by demonstrating that PI6 colocalizes with another Ov-serpin gene, ELANH2 (<a href="/entry/130135">130135</a>). The localization was achieved with a chromosome 6 regional hybrid DNA panel. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8530031+7724531" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Sun, J., Rose, J. B., Bird, P. <strong>Gene structure, chromosomal localization, and expression of the murine homologue of human proteinase inhibitor 6 (PI-6) suggests divergence of PI-6 from the ovalbumin serpins.</strong> J. Biol. Chem. 270: 16089-16096, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7608171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7608171</a>] [<a href="https://doi.org/10.1074/jbc.270.27.16089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7608171">Sun et al. (1995)</a> mapped the mouse Spi3 gene to chromosome 13 between the Pl1 and ctla2a genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7608171" 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="Sirmaci, A., Erbek, S., Price, J., Huang, M., Duman, D., Cengiz, F. B., Bademci, G., Tokgoz-Yilmaz, S., Hismi, B., Ozdag, H., Ozturk, B., Kulaksizoglu, S., and 13 others. <strong>A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.</strong> Am. J. Hum. Genet. 86: 797-804, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20451170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20451170</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20451170[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.04.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20451170">Sirmaci et al. (2010)</a> found that Serpinb6 was expressed in crista hair cells of the mouse inner ear at embryonic day (E) 16.5. Hair cell expression was sustained in adult mice. Serpinb6 was expressed in the cytoplasm of both cochlear and utricular hair cells in the embryo and early postnatal age, and in the greater epithelial ridge region in early postnatal age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20451170" 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 genomewide linkage analysis followed by candidate gene sequencing in affected members of a consanguineous Turkish family with nonsyndromic progressive hearing loss (DFNB91; <a href="/entry/613453">613453</a>), <a href="#8" class="mim-tip-reference" title="Sirmaci, A., Erbek, S., Price, J., Huang, M., Duman, D., Cengiz, F. B., Bademci, G., Tokgoz-Yilmaz, S., Hismi, B., Ozdag, H., Ozturk, B., Kulaksizoglu, S., and 13 others. <strong>A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.</strong> Am. J. Hum. Genet. 86: 797-804, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20451170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20451170</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20451170[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.04.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20451170">Sirmaci et al. (2010)</a> identified a homozygous truncating mutation in the SERPINB6 gene (E245X; <a href="#0001">173321.0001</a>), resulting in loss of function. <a href="#8" class="mim-tip-reference" title="Sirmaci, A., Erbek, S., Price, J., Huang, M., Duman, D., Cengiz, F. B., Bademci, G., Tokgoz-Yilmaz, S., Hismi, B., Ozdag, H., Ozturk, B., Kulaksizoglu, S., and 13 others. <strong>A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.</strong> Am. J. Hum. Genet. 86: 797-804, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20451170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20451170</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20451170[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.04.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20451170">Sirmaci et al. (2010)</a> concluded that SERPINB6 plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20451170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Shearer, A. E., Kolbe, D. L., Azaiez, H., Sloan, C. M., Frees, K. L., Weaver, A. E., Clark, E. T., Nishimura, C. J., Black-Ziegelbein, E. A., Smith, R. J. H. <strong>Copy number variants are a common cause of non-syndromic hearing loss.</strong> Genome Med. 6: 37, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24963352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24963352</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24963352[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/10.1186/gm554" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24963352">Shearer et al. (2014)</a> stated that they had identified a partial deletion in the SERPINB6 gene as a cause of autosomal recessive nonsyndromic hearing loss (their table 1), but provided no additional information. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24963352" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Scarff, K. L., Ung, K. S., Nandurkar, H., Crack, P. J., Bird, C. H., Bird, P. I. <strong>Targeted disruption of SPI3/Serpinb6 does not result in developmental or growth defects, leukocyte dysfunction, or susceptibility to stroke.</strong> Molec. Cell. Biol. 24: 4075-4082, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15082799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15082799</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15082799[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/10.1128/MCB.24.9.4075-4082.2004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15082799">Scarff et al. (2004)</a> found that Spi3-deficient mice developed normally, were fertile, and had no obvious pathology. Increased levels of Elanh2 in the tissues of mutant mice suggested that compensation by other serpins reduced the impact of Spi3 deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15082799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Tan, J., Prakash, M. D., Kaiserman, D., Bird, P. I. <strong>Absence of SERPINB6A causes sensorineural hearing loss with multiple histopathologies in the mouse inner ear.</strong> Am. J. Path. 183: 49-59, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23669344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23669344</a>] [<a href="https://doi.org/10.1016/j.ajpath.2013.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23669344">Tan et al. (2013)</a> noted that mice express multiple related clade B serpins that have no human counterparts and that mouse Serpinb6a is the ortholog of human SERPINB6. They found that homozygous replacement of Serpinb6a with green fluorescent protein had no effect on cochlear or vestibular development but caused progressive hearing loss, concomitant with cochlear degeneration, after 2 weeks of age. The effect first appeared as loss of outer hair cells before spreading to inner hair cells and primary auditory neurons and, finally, to types 1, 2, and 4 fibrocytes. Since loss of Serpinb6a expression had no effect on cochlear development, <a href="#10" class="mim-tip-reference" title="Tan, J., Prakash, M. D., Kaiserman, D., Bird, P. I. <strong>Absence of SERPINB6A causes sensorineural hearing loss with multiple histopathologies in the mouse inner ear.</strong> Am. J. Path. 183: 49-59, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23669344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23669344</a>] [<a href="https://doi.org/10.1016/j.ajpath.2013.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23669344">Tan et al. (2013)</a> hypothesized that Serpinb6a expression is required for cochlear homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23669344" 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 href="https://www.ncbi.nlm.nih.gov/clinvar?term=173321[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607037 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607037;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=rs267607037" 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=rs267607037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a consanguineous Turkish family with nonsyndromic progressive hearing loss (DFNB91; <a href="/entry/613453">613453</a>), <a href="#8" class="mim-tip-reference" title="Sirmaci, A., Erbek, S., Price, J., Huang, M., Duman, D., Cengiz, F. B., Bademci, G., Tokgoz-Yilmaz, S., Hismi, B., Ozdag, H., Ozturk, B., Kulaksizoglu, S., and 13 others. <strong>A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.</strong> Am. J. Hum. Genet. 86: 797-804, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20451170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20451170</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20451170[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.04.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20451170">Sirmaci et al. (2010)</a> identified a homozygous 744G-T transversion in the SERPINB6 gene, resulting in a gly245-to-ter (E245X) substitution, which removes 131 amino acids in the C-terminal region that includes the reactive center loop. Further studies showed that the mutation resulted in mRNA decay and complete lack of protein expression. The mutation was not found in 300 Turkish controls or in an additional 542 Turkish, Greek, American, and Palestinian families, mostly with congenital hearing loss. In vitro functional expression studies in HeLa cells showed that the E245X mutation resulted in increased loss of lysosomal integrity in response to osmotic shock compared to cells transfected with wildtype SERPINB6. These findings suggested that wildtype SERPINB6 is required to counter potentially cytotoxic components of leaking lysosomal proteases that result from various stress conditions. Although the precise age of onset could not be ascertained, the youngest affected individual, who was 23 years old, reported loss of hearing after age 20. The hearing loss was progressive and age-dependent, consistent with a loss of function of an intracellular protease inhibitor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20451170" 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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Coughlin, P., Nicholl, J., Sun, J., Salem, H., Bird, P., Sutherland, G. R.
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<strong>Chromosomal mapping of the human proteinase inhibitor 6 (PI6) gene to 6p25 by fluorescence in situ hybridization.</strong>
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Genomics 26: 431-433, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7601482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7601482</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7601482" 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/10.1016/0888-7543(95)80240-m" target="_blank">Full Text</a>]
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Coughlin, P., Sun, J., Cerruti, L., Salem, H. H., Bird, P.
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<strong>Cloning and molecular characterization of a human intracellular serine proteinase inhibitor.</strong>
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Proc. Nat. Acad. Sci. 90: 9417-9421, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8415716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8415716</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8415716" 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.90.20.9417" target="_blank">Full Text</a>]
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Evans, E., Cooley, J., Remold-O'Donnell, E.
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<strong>Characterization and chromosomal localization of ELANH2, the gene encoding human monocyte/neutrophil elastase inhibitor.</strong>
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Genomics 28: 235-240, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530031</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1995.1136" target="_blank">Full Text</a>]
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Nishibori, M., Ohtsuka, A., Kawabata, M., Nakaya, N., Murakami, T., Saeki, K.
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<strong>A novel serpin-like protein, B-43, exists in both neurons and astrocytes: an immunohistochemical study in the parietal region of the bovine brain.</strong>
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Neurosci. Lett. 200: 125-128, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8614560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8614560</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8614560" 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/10.1016/0304-3940(95)12095-l" target="_blank">Full Text</a>]
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Scarff, K. L., Ung, K. S., Nandurkar, H., Crack, P. J., Bird, C. H., Bird, P. I.
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<strong>Targeted disruption of SPI3/Serpinb6 does not result in developmental or growth defects, leukocyte dysfunction, or susceptibility to stroke.</strong>
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Molec. Cell. Biol. 24: 4075-4082, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15082799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15082799</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15082799[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=15082799" 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.24.9.4075-4082.2004" 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="Schneider1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Schneider, S. S., Schick, C., Fish, K. E., Miller, E., Pena, J. C., Treter, S. D., Hui, S. M., Silverman, G. A.
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|
<strong>A serine proteinase inhibitor locus at 18q21.3 contains a tandem duplication of the human squamous cell carcinoma antigen gene.</strong>
|
|
Proc. Nat. Acad. Sci. 92: 3147-3151, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7724531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7724531</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7724531" 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.92.8.3147" 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="Shearer2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shearer, A. E., Kolbe, D. L., Azaiez, H., Sloan, C. M., Frees, K. L., Weaver, A. E., Clark, E. T., Nishimura, C. J., Black-Ziegelbein, E. A., Smith, R. J. H.
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<strong>Copy number variants are a common cause of non-syndromic hearing loss.</strong>
|
|
Genome Med. 6: 37, 2014. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24963352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24963352</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24963352[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=24963352" 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/10.1186/gm554" 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="Sirmaci2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sirmaci, A., Erbek, S., Price, J., Huang, M., Duman, D., Cengiz, F. B., Bademci, G., Tokgoz-Yilmaz, S., Hismi, B., Ozdag, H., Ozturk, B., Kulaksizoglu, S., and 13 others.
|
|
<strong>A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.</strong>
|
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Am. J. Hum. Genet. 86: 797-804, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20451170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20451170</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20451170[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=20451170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.04.004" 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="Sun1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sun, J., Rose, J. B., Bird, P.
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<strong>Gene structure, chromosomal localization, and expression of the murine homologue of human proteinase inhibitor 6 (PI-6) suggests divergence of PI-6 from the ovalbumin serpins.</strong>
|
|
J. Biol. Chem. 270: 16089-16096, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7608171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7608171</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7608171" 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/10.1074/jbc.270.27.16089" 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="10" class="mim-anchor"></a>
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<a id="Tan2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tan, J., Prakash, M. D., Kaiserman, D., Bird, P. I.
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<strong>Absence of SERPINB6A causes sensorineural hearing loss with multiple histopathologies in the mouse inner ear.</strong>
|
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Am. J. Path. 183: 49-59, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23669344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23669344</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23669344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajpath.2013.03.009" 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>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 7/29/2014
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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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Carol A. Bocchini - updated : 7/28/2014<br>Cassandra L. Kniffin - updated : 6/17/2010<br>Patricia A. Hartz - updated : 6/25/2004
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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 : 11/9/1993
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</span>
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</div>
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</div>
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</div>
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<div>
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<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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|
mgross : 08/07/2014
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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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mcolton : 7/29/2014<br>carol : 7/28/2014<br>wwang : 6/17/2010<br>ckniffin : 6/17/2010<br>carol : 12/10/2009<br>mgross : 7/6/2004<br>terry : 6/25/2004<br>terry : 3/13/2002<br>mark : 10/15/1997<br>mark : 10/14/1997<br>terry : 5/22/1996<br>mark : 9/10/1995<br>terry : 4/18/1995<br>carol : 11/9/1993
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</span>
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</div>
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</div>
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</div>
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</div>
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</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> 173321
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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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|
SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 6; SERPINB6
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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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PROTEASE INHIBITOR 6; PI6<br />
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PLACENTAL THROMBIN INHIBITOR; PTI<br />
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SPI3, MOUSE, HOMOLOG OF; SPI3
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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-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: SERPINB6</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: 6p25.2
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 6:2,948,159-2,971,793 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
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>
|
|
Phenotype <br /> mapping key
|
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</th>
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</tr>
|
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</thead>
|
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<tbody>
|
|
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<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
6p25.2
|
|
</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
?Deafness, autosomal recessive 91
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
613453
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</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>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Coughlin et al. (1993) described a cDNA encoding a serine proteinase inhibitor present in placental tissue and in the cytosolic fraction of the leukemic cell line K562. On the basis of its interaction with thrombin, through which it was discovered, the inhibitor was operationally named the placental thrombin inhibitor (PTI). Amino acid sequence comparisons suggested that its reactive center is located at arg341 and cys342, that it lacks a classic N-terminal signal sequence, and that it has the highest degree of similarity to intracellular serine proteinase inhibitors (serpins), such as the human monocyte/neutrophil elastase inhibitor (ELANH2; 130135). Analysis of human tissue mRNA indicated that PTI is expressed widely, with the highest levels in cardiac and skeletal muscle and placenta. Coughlin et al. (1993) concluded that PTI is a member of an emerging class of intracellular serpins. </p><p>Sun et al. (1995) showed that expression of the mouse PI6 homolog, Spi3, is developmentally regulated, and that, unlike the situation in the human, Spi3 is absent from the mouse placenta. </p><p>Nishibori et al. (1995) isolated a serum protease, designated B43, from bovine brain. They used histochemical staining to demonstrate its presence in fibrous astroglial cells, particularly in endfeet-like cellular structures, suggesting its involvement in the blood-brain barrier. Partial amino acid sequence of the protease suggested that it was the homolog of human PI6 and mouse Spi3. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Sun et al. (1995) determined that the mouse Spi3 gene spans 20 kb, contains 7 exons and 6 introns, and contains a TATA motif 24 bp upstream of the transcriptional start site. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
|
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|
<span class="mim-text-font">
|
|
<p>Coughlin et al. (1995) used fluorescence in situ hybridization to map the SERPINB6 gene to chromosome 6p25. </p><p>While studying a cluster of serine proteinase inhibitors of the ovalbumin family, including maspin (SERPINB6; 154790) located on chromosome 18q21.3, Schneider et al. (1995) prepared PCR primer sets for the 3-prime untranslated region of PTI. Using the NIGMS monochromosomal somatic cell hybrid panel, they mapped the PTI gene to chromosome 6. Evans et al. (1995) confirmed the assignment to chromosome 6 and regionalized it to 6pter-p24 by demonstrating that PI6 colocalizes with another Ov-serpin gene, ELANH2 (130135). The localization was achieved with a chromosome 6 regional hybrid DNA panel. </p><p>Sun et al. (1995) mapped the mouse Spi3 gene to chromosome 13 between the Pl1 and ctla2a genes. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
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<span class="mim-text-font">
|
|
<p>Sirmaci et al. (2010) found that Serpinb6 was expressed in crista hair cells of the mouse inner ear at embryonic day (E) 16.5. Hair cell expression was sustained in adult mice. Serpinb6 was expressed in the cytoplasm of both cochlear and utricular hair cells in the embryo and early postnatal age, and in the greater epithelial ridge region in early postnatal age. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
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<p>By genomewide linkage analysis followed by candidate gene sequencing in affected members of a consanguineous Turkish family with nonsyndromic progressive hearing loss (DFNB91; 613453), Sirmaci et al. (2010) identified a homozygous truncating mutation in the SERPINB6 gene (E245X; 173321.0001), resulting in loss of function. Sirmaci et al. (2010) concluded that SERPINB6 plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. </p><p>Shearer et al. (2014) stated that they had identified a partial deletion in the SERPINB6 gene as a cause of autosomal recessive nonsyndromic hearing loss (their table 1), but provided no additional information. </p>
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<strong>Animal Model</strong>
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<p>Scarff et al. (2004) found that Spi3-deficient mice developed normally, were fertile, and had no obvious pathology. Increased levels of Elanh2 in the tissues of mutant mice suggested that compensation by other serpins reduced the impact of Spi3 deficiency. </p><p>Tan et al. (2013) noted that mice express multiple related clade B serpins that have no human counterparts and that mouse Serpinb6a is the ortholog of human SERPINB6. They found that homozygous replacement of Serpinb6a with green fluorescent protein had no effect on cochlear or vestibular development but caused progressive hearing loss, concomitant with cochlear degeneration, after 2 weeks of age. The effect first appeared as loss of outer hair cells before spreading to inner hair cells and primary auditory neurons and, finally, to types 1, 2, and 4 fibrocytes. Since loss of Serpinb6a expression had no effect on cochlear development, Tan et al. (2013) hypothesized that Serpinb6a expression is required for cochlear homeostasis. </p>
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<strong>ALLELIC VARIANTS</strong>
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<strong>1 Selected Example):</strong>
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<span class="mim-font">
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<strong>.0001 DEAFNESS, AUTOSOMAL RECESSIVE 91 (1 family)</strong>
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SERPINB6, GLU245TER
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<br />
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SNP: rs267607037,
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ClinVar: RCV000014571
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<p>In affected members of a consanguineous Turkish family with nonsyndromic progressive hearing loss (DFNB91; 613453), Sirmaci et al. (2010) identified a homozygous 744G-T transversion in the SERPINB6 gene, resulting in a gly245-to-ter (E245X) substitution, which removes 131 amino acids in the C-terminal region that includes the reactive center loop. Further studies showed that the mutation resulted in mRNA decay and complete lack of protein expression. The mutation was not found in 300 Turkish controls or in an additional 542 Turkish, Greek, American, and Palestinian families, mostly with congenital hearing loss. In vitro functional expression studies in HeLa cells showed that the E245X mutation resulted in increased loss of lysosomal integrity in response to osmotic shock compared to cells transfected with wildtype SERPINB6. These findings suggested that wildtype SERPINB6 is required to counter potentially cytotoxic components of leaking lysosomal proteases that result from various stress conditions. Although the precise age of onset could not be ascertained, the youngest affected individual, who was 23 years old, reported loss of hearing after age 20. The hearing loss was progressive and age-dependent, consistent with a loss of function of an intracellular protease inhibitor. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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Coughlin, P., Nicholl, J., Sun, J., Salem, H., Bird, P., Sutherland, G. R.
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<strong>Chromosomal mapping of the human proteinase inhibitor 6 (PI6) gene to 6p25 by fluorescence in situ hybridization.</strong>
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Genomics 26: 431-433, 1995.
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[PubMed: 7601482]
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[Full Text: https://doi.org/10.1016/0888-7543(95)80240-m]
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<li>
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<p class="mim-text-font">
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Coughlin, P., Sun, J., Cerruti, L., Salem, H. H., Bird, P.
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<strong>Cloning and molecular characterization of a human intracellular serine proteinase inhibitor.</strong>
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Proc. Nat. Acad. Sci. 90: 9417-9421, 1993.
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[PubMed: 8415716]
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[Full Text: https://doi.org/10.1073/pnas.90.20.9417]
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<p class="mim-text-font">
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Evans, E., Cooley, J., Remold-O'Donnell, E.
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<strong>Characterization and chromosomal localization of ELANH2, the gene encoding human monocyte/neutrophil elastase inhibitor.</strong>
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Genomics 28: 235-240, 1995.
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[PubMed: 8530031]
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[Full Text: https://doi.org/10.1006/geno.1995.1136]
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<p class="mim-text-font">
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Nishibori, M., Ohtsuka, A., Kawabata, M., Nakaya, N., Murakami, T., Saeki, K.
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<strong>A novel serpin-like protein, B-43, exists in both neurons and astrocytes: an immunohistochemical study in the parietal region of the bovine brain.</strong>
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Neurosci. Lett. 200: 125-128, 1995.
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[PubMed: 8614560]
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[Full Text: https://doi.org/10.1016/0304-3940(95)12095-l]
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<p class="mim-text-font">
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Scarff, K. L., Ung, K. S., Nandurkar, H., Crack, P. J., Bird, C. H., Bird, P. I.
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<strong>Targeted disruption of SPI3/Serpinb6 does not result in developmental or growth defects, leukocyte dysfunction, or susceptibility to stroke.</strong>
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Molec. Cell. Biol. 24: 4075-4082, 2004.
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[PubMed: 15082799]
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[Full Text: https://doi.org/10.1128/MCB.24.9.4075-4082.2004]
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<p class="mim-text-font">
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Schneider, S. S., Schick, C., Fish, K. E., Miller, E., Pena, J. C., Treter, S. D., Hui, S. M., Silverman, G. A.
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<strong>A serine proteinase inhibitor locus at 18q21.3 contains a tandem duplication of the human squamous cell carcinoma antigen gene.</strong>
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Proc. Nat. Acad. Sci. 92: 3147-3151, 1995.
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[PubMed: 7724531]
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[Full Text: https://doi.org/10.1073/pnas.92.8.3147]
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Shearer, A. E., Kolbe, D. L., Azaiez, H., Sloan, C. M., Frees, K. L., Weaver, A. E., Clark, E. T., Nishimura, C. J., Black-Ziegelbein, E. A., Smith, R. J. H.
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<strong>Copy number variants are a common cause of non-syndromic hearing loss.</strong>
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Genome Med. 6: 37, 2014. Note: Electronic Article.
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[PubMed: 24963352]
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[Full Text: https://doi.org/10.1186/gm554]
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<li>
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<p class="mim-text-font">
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Sirmaci, A., Erbek, S., Price, J., Huang, M., Duman, D., Cengiz, F. B., Bademci, G., Tokgoz-Yilmaz, S., Hismi, B., Ozdag, H., Ozturk, B., Kulaksizoglu, S., and 13 others.
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<strong>A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.</strong>
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Am. J. Hum. Genet. 86: 797-804, 2010.
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[PubMed: 20451170]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.04.004]
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<li>
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<p class="mim-text-font">
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Sun, J., Rose, J. B., Bird, P.
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<strong>Gene structure, chromosomal localization, and expression of the murine homologue of human proteinase inhibitor 6 (PI-6) suggests divergence of PI-6 from the ovalbumin serpins.</strong>
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J. Biol. Chem. 270: 16089-16096, 1995.
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[PubMed: 7608171]
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[Full Text: https://doi.org/10.1074/jbc.270.27.16089]
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<p class="mim-text-font">
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Tan, J., Prakash, M. D., Kaiserman, D., Bird, P. I.
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<strong>Absence of SERPINB6A causes sensorineural hearing loss with multiple histopathologies in the mouse inner ear.</strong>
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Am. J. Path. 183: 49-59, 2013.
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[PubMed: 23669344]
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[Full Text: https://doi.org/10.1016/j.ajpath.2013.03.009]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 7/29/2014<br>Carol A. Bocchini - updated : 7/28/2014<br>Cassandra L. Kniffin - updated : 6/17/2010<br>Patricia A. Hartz - updated : 6/25/2004
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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 : 11/9/1993
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mgross : 08/07/2014<br>mcolton : 7/29/2014<br>carol : 7/28/2014<br>wwang : 6/17/2010<br>ckniffin : 6/17/2010<br>carol : 12/10/2009<br>mgross : 7/6/2004<br>terry : 6/25/2004<br>terry : 3/13/2002<br>mark : 10/15/1997<br>mark : 10/14/1997<br>terry : 5/22/1996<br>mark : 9/10/1995<br>terry : 4/18/1995<br>carol : 11/9/1993
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