2654 lines
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2654 lines
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Entry
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- *609863 - TECTONIC FAMILY, MEMBER 1; TCTN1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*609863</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<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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<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/609863">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div 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=ENSG00000204852;t=ENST00000397659" 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=79600" 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=609863" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<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=ENSG00000204852;t=ENST00000397659" 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_001082537,NM_001082538,NM_001173975,NM_001173976,NM_001319680,NM_001319681,NM_001319682,NM_024549,NR_135088,XM_005253934,XM_005253935,XM_006719594,XM_006719595,XM_006719597,XM_006719598,XM_006719600,XM_011538733,XM_011538734,XM_011538735,XM_011538737,XM_011538738,XM_017019964,XM_047429536,XM_047429537,XM_047429538,XM_047429539,XM_047429540,XM_047429541,XM_047429542,XM_047429543,XM_047429544" 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_001082538" 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=609863" 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=08636&isoform_id=08636_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/TCTN1" 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/10437162,16550730,18543327,21751455,25304047,37181476,38566201,82780813,91208022,116283709,119618335,119618336,119618337,119618338,130978357,130978359,194380556,211826934,221043732,291190750,291190755,530401418,530401420,578824217,578824223,578824227,578824229,578824233,767975299,767975301,767975303,767975307,767975310,985567545,985567547,985567549,1034581578,2217291030,2217291033,2217291035,2217291039,2217291041,2217291043,2217291050,2217291052,2217291054,2462534348,2462534350,2462534352,2462534354,2462534356,2462534358,2462534360,2462534362,2462534364,2462534366,2462534368,2462534370,2462534372,2462534374,2462534376,2462534378,2462534380,2462534382,2462534384,2462534386,2462534388,2462534390" 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/Q2MV58" 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=79600" 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=ENSG00000204852;t=ENST00000397659" 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=TCTN1" 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=TCTN1" 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+79600" 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/TCTN1" 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:79600" 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/79600" 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=chr12&hgg_gene=ENST00000397659.9&hgg_start=110614129&hgg_end=110649430&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:26113" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609863[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=609863[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/ENSG00000204852" 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=TCTN1" 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=TCTN1" 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=TCTN1" 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=TCTN1&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/PA162405437" 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:26113" 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/FBgn0261697.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:3603820" 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/TCTN1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:3603820" 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/79600/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=79600" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00017120;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-081104-157" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=TCTN1&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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609863
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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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TECTONIC FAMILY, MEMBER 1; TCTN1
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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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TECTONIC 1; TECT1<br />
|
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TECTONIC
|
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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=TCTN1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TCTN1</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/12/805?start=-3&limit=10&highlight=805">12q24.11</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:110614129-110649430&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'})">12:110,614,129-110,649,430</a> </span>
|
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</em>
|
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
|
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<tbody>
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|
<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/805?start=-3&limit=10&highlight=805">
|
|
12q24.11
|
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</a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Joubert syndrome 13
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/614173"> 614173 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/609863" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/609863" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
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<p><a href="#3" class="mim-tip-reference" title="Reiter, J. F., Skarnes, W. C. <strong>Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.</strong> Genes Dev. 20: 22-27, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16357211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16357211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16357211[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/10.1101/gad.1363606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16357211">Reiter and Skarnes (2006)</a> identified mouse and human TCTN1, which they named tectonic, after the Greek work for builder, due to its apparent involvement in a diverse range of developmental processes. The deduced mouse protein contains 593 amino acids and has an N-terminal signal peptide. Database analysis indicated that tectonic is the founding member of a family of evolutionarily conserved secreted and transmembrane proteins that includes mouse and human TCTN2 (<a href="/entry/613846">613846</a>) and TCTN3 (<a href="/entry/613847">613847</a>) and the single Drosophila tectonic homolog. In mouse embryos, tectonic was expressed in regions that participate in hedgehog (see SHH; <a href="/entry/600725">600725</a>) signaling. It was first expressed during gastrulation stages in the ventral node. At embryonic day 9.5, it was expressed in the gut endoderm, limb buds, notochord, somites, neural tube, and floorplate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16357211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Reiter, J. F., Skarnes, W. C. <strong>Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.</strong> Genes Dev. 20: 22-27, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16357211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16357211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16357211[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/10.1101/gad.1363606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16357211">Reiter and Skarnes (2006)</a> determined that the mouse tectonic gene contains 13 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16357211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 3/29/2011."None>Gross (2011)</a> mapped the TCTN1 gene to chromosome 12q24.11 based on an alignment of the TCTN1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC040113" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC040113</a>) with the genomic sequence (GRCh37).</p><p><a href="#3" class="mim-tip-reference" title="Reiter, J. F., Skarnes, W. C. <strong>Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.</strong> Genes Dev. 20: 22-27, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16357211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16357211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16357211[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/10.1101/gad.1363606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16357211">Reiter and Skarnes (2006)</a> mapped the mouse tectonic gene to chromosome 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16357211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Reiter, J. F., Skarnes, W. C. <strong>Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.</strong> Genes Dev. 20: 22-27, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16357211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16357211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16357211[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/10.1101/gad.1363606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16357211">Reiter and Skarnes (2006)</a> found that mouse tectonic modulated hedgehog (see SHH; <a href="/entry/600725">600725</a>) signaling downstream of smoothened (SMOH; <a href="/entry/601500">601500</a>) and Rab23 (<a href="/entry/606144">606144</a>) and was required for maximal hedgehog activation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16357211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using mass spectrometric analysis and immunoprecipitation studies of mouse proteins and cultured murine cells, <a href="#1" class="mim-tip-reference" title="Garcia-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C. L., Josifova, D. J., Garcia-Verdugo, J. M., Katsanis, N., Hildebrandt, F., Reiter, J. F. <strong>A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.</strong> Nature Genet. 43: 776-784, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21725307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21725307</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21725307[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/10.1038/ng.891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21725307">Garcia-Gonzalo et al. (2011)</a> showed that Tctn1 is part of a ciliopathy-associated protein complex and interacts with several genes associated with ciliopathies, including Mks1 (<a href="/entry/609883">609883</a>), Cc2d2a (<a href="/entry/612013">612013</a>), and Tctn2 (<a href="/entry/613846">613846</a>). The 2 strongest interactors were Tctn2 and Tctn3 (<a href="/entry/613847">613847</a>), indicating that these 3 tectonic proteins are part of the same complex. TCTN1 also interacted with B9d1 (<a href="/entry/614144">614144</a>) and Tmem216 (<a href="/entry/613277">613277</a>), Tmem67 (<a href="/entry/609884">609884</a>), and Cep290 (<a href="/entry/610142">610142</a>) under some conditions. In cultured ciliated cells, Tctn1 localized with these proteins to the transition zone between the ciliary axoneme and the basal body, where it regulates ciliogenesis in a tissue-dependent manner. Studies of fibroblasts derived from Tctn1-null mice showed that the tectonic complex also controls ciliary membrane composition, and is needed for proper ciliary localization of Adcy3 (<a href="/entry/600291">600291</a>), Pkd2 (<a href="/entry/173910">173910</a>), Smo (<a href="/entry/601500">601500</a>), and Arl13b (<a href="/entry/608922">608922</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21725307" 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 homozygosity mapping followed by candidate gene sequencing, <a href="#1" class="mim-tip-reference" title="Garcia-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C. L., Josifova, D. J., Garcia-Verdugo, J. M., Katsanis, N., Hildebrandt, F., Reiter, J. F. <strong>A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.</strong> Nature Genet. 43: 776-784, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21725307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21725307</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21725307[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/10.1038/ng.891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21725307">Garcia-Gonzalo et al. (2011)</a> identified a homozygous splice site mutation in the TCTN1 gene (<a href="#0001">609863.0001</a>) in 2 sisters, born of consanguineous Bangladeshi parents, with Joubert syndrome-13 (JBTS13; <a href="/entry/614173">614173</a>). Investigation of 4 families homozygous at the TCTN1 locus and 48 families with JBTS identified no additional mutations, suggesting that TCTN1 mutations are a rare cause of Joubert syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21725307" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 27-week-old male fetus with JBTS13, <a href="#4" class="mim-tip-reference" title="Srour, M., Hamdan, F. F., McKnight, D., Davis, E., Mandel, H., Schwartzentruber, J., Martin, B., Patry, L., Nassif, C., Dionne-Laporte, A., Ospina, L. H., Lemyre, E., and 22 others. <strong>Joubert syndrome in French Canadians and identification of mutations in CEP104.</strong> Am. J. Hum. Genet. 97: 744-753, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26477546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26477546</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26477546[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.2015.09.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26477546">Srour et al. (2015)</a> identified compound heterozygous mutations in the TCTN1 gene (<a href="#0001">609863.0001</a> and <a href="#0002">609863.0002</a>). The mutations were found by whole-exome sequencing. Functional studies and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26477546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Reiter, J. F., Skarnes, W. C. <strong>Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.</strong> Genes Dev. 20: 22-27, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16357211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16357211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16357211[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/10.1101/gad.1363606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16357211">Reiter and Skarnes (2006)</a> found that tectonic-null mice died between embryonic days 13.5 and 16.5 and displayed holoprosencephaly. V3 interneurons were lost in tectonic mutants. Loss of ventral neural markers in tectonic-null mice was accompanied by a ventral expansion of genes normally restricted to more dorsal domains. Examination of tectonic-Shh double mutants showed that tectonic could repress as well as activate hedgehog signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16357211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By studies in Tctn1-null mice, <a href="#1" class="mim-tip-reference" title="Garcia-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C. L., Josifova, D. J., Garcia-Verdugo, J. M., Katsanis, N., Hildebrandt, F., Reiter, J. F. <strong>A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.</strong> Nature Genet. 43: 776-784, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21725307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21725307</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21725307[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/10.1038/ng.891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21725307">Garcia-Gonzalo et al. (2011)</a> determined that Tctn1 is required for ciliogenesis in a tissue-dependent manner. Tctn1-null mice showed disruption of nodal flow, laterality defects, and neural tube dorsalization. Basal bodies docked to the cellular plasma membrane, but failed to extend axonemes. However, cilia were present in the notochord, early gut epithelium, and mesenchymal cells surrounding the neural tube and in the limb bud. Tctn1 -/- embryos developed an extra preaxial digit on 1 or both hindlimbs. Although Shh expression was normal, downstream signaling was disturbed, suggesting that Tctn1 is required for cilium-dependent Shh signal transduction. Tctn2 (<a href="/entry/613846">613846</a>)-null and Cc2d2a (<a href="/entry/612013">612013</a>)-null mice showed a similar phenotype, suggesting that these 3 genes share a common function affecting ciliogenesis in a tissue-specific manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21725307" 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=RCV000023788 OR RCV000207452 OR RCV003765338 OR RCV004808556" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023788, RCV000207452, RCV003765338, RCV004808556" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023788...</a>
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<p>By homozygosity mapping followed by candidate gene sequencing in 2 sisters, born of consanguineous Bangladeshi parents, with Joubert syndrome-13 (JBTS13; <a href="/entry/614173">614173</a>), <a href="#1" class="mim-tip-reference" title="Garcia-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C. L., Josifova, D. J., Garcia-Verdugo, J. M., Katsanis, N., Hildebrandt, F., Reiter, J. F. <strong>A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.</strong> Nature Genet. 43: 776-784, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21725307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21725307</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21725307[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/10.1038/ng.891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21725307">Garcia-Gonzalo et al. (2011)</a> identified a homozygous A-to-G transition in intron 1 of the TCTN1 gene, resulting in a splice site mutation predicted to disrupt domains of the protein required for its function. The mutation was not found in 96 controls or in the 1000 Genomes Project data. Brain MRI showed cerebellar vermis hypoplasia and the molar tooth sign, the characteristic radiographic feature of JBTS. One girl also had bilateral frontotemporal pachygyria. Ophthalmologic assessment and renal ultrasounds were normal at ages 7 years and 4 years, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21725307" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 27-week-old male fetus (HSJ-JBTS-2) with JBTS13, <a href="#4" class="mim-tip-reference" title="Srour, M., Hamdan, F. F., McKnight, D., Davis, E., Mandel, H., Schwartzentruber, J., Martin, B., Patry, L., Nassif, C., Dionne-Laporte, A., Ospina, L. H., Lemyre, E., and 22 others. <strong>Joubert syndrome in French Canadians and identification of mutations in CEP104.</strong> Am. J. Hum. Genet. 97: 744-753, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26477546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26477546</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26477546[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.2015.09.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26477546">Srour et al. (2015)</a> identified compound heterozygous mutations in the TCTN1 gene: c.342-2A-C (c.342-2A-C, NM_001082538.2), which the authors stated was the same as the mutation identified by <a href="#1" class="mim-tip-reference" title="Garcia-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C. L., Josifova, D. J., Garcia-Verdugo, J. M., Katsanis, N., Hildebrandt, F., Reiter, J. F. <strong>A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.</strong> Nature Genet. 43: 776-784, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21725307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21725307</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21725307[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/10.1038/ng.891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21725307">Garcia-Gonzalo et al. (2011)</a>, and a c.898C-T transition, resulting in an arg300-to-ter (R300X; <a href="#0002">609863.0002</a>) substitution. The mutations were found by whole-exome sequencing. Functional studies and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21725307+26477546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 JOUBERT SYNDROME 13</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000207452 OR RCV003765338" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000207452, RCV003765338" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000207452...</a>
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<p>For discussion of the c.898C-T transition (c.898C-T, NM_001082538.2) in the TCTN1 gene, resulting in an arg300-to-ter (R300X) substitution, that was found in compound heterozygous state in a fetus with Joubert syndrome-13 (JBTS13; <a href="/entry/614173">614173</a>) by <a href="#4" class="mim-tip-reference" title="Srour, M., Hamdan, F. F., McKnight, D., Davis, E., Mandel, H., Schwartzentruber, J., Martin, B., Patry, L., Nassif, C., Dionne-Laporte, A., Ospina, L. H., Lemyre, E., and 22 others. <strong>Joubert syndrome in French Canadians and identification of mutations in CEP104.</strong> Am. J. Hum. Genet. 97: 744-753, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26477546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26477546</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26477546[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.2015.09.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26477546">Srour et al. (2015)</a>, see <a href="#0001">609863.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26477546" 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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Garcia-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C. L., Josifova, D. J., Garcia-Verdugo, J. M., Katsanis, N., Hildebrandt, F., Reiter, J. F.
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<strong>A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.</strong>
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Nature Genet. 43: 776-784, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21725307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21725307</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21725307[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=21725307" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.891" target="_blank">Full Text</a>]
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 3/29/2011.
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Reiter, J. F., Skarnes, W. C.
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<strong>Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.</strong>
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Genes Dev. 20: 22-27, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16357211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16357211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16357211[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=16357211" 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/10.1101/gad.1363606" target="_blank">Full Text</a>]
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Srour, M., Hamdan, F. F., McKnight, D., Davis, E., Mandel, H., Schwartzentruber, J., Martin, B., Patry, L., Nassif, C., Dionne-Laporte, A., Ospina, L. H., Lemyre, E., and 22 others.
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<strong>Joubert syndrome in French Canadians and identification of mutations in CEP104.</strong>
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Am. J. Hum. Genet. 97: 744-753, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26477546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26477546</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26477546[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=26477546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 2/10/2016
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ckniffin : 2/10/2016<br>alopez : 8/23/2011<br>ckniffin : 8/18/2011<br>mgross : 3/29/2011<br>mgross : 3/29/2011<br>mgross : 1/30/2006
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<div class="col-md-8 col-md-offset-1">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 609863
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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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TECTONIC FAMILY, MEMBER 1; TCTN1
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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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<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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TECTONIC 1; TECT1<br />
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TECTONIC
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TCTN1</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>
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Cytogenetic location: 12q24.11
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:110,614,129-110,649,430 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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12q24.11
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</span>
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</td>
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<td>
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<span class="mim-font">
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Joubert syndrome 13
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</span>
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</td>
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<td>
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<span class="mim-font">
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614173
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Reiter and Skarnes (2006) identified mouse and human TCTN1, which they named tectonic, after the Greek work for builder, due to its apparent involvement in a diverse range of developmental processes. The deduced mouse protein contains 593 amino acids and has an N-terminal signal peptide. Database analysis indicated that tectonic is the founding member of a family of evolutionarily conserved secreted and transmembrane proteins that includes mouse and human TCTN2 (613846) and TCTN3 (613847) and the single Drosophila tectonic homolog. In mouse embryos, tectonic was expressed in regions that participate in hedgehog (see SHH; 600725) signaling. It was first expressed during gastrulation stages in the ventral node. At embryonic day 9.5, it was expressed in the gut endoderm, limb buds, notochord, somites, neural tube, and floorplate. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Reiter and Skarnes (2006) determined that the mouse tectonic gene contains 13 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gross (2011) mapped the TCTN1 gene to chromosome 12q24.11 based on an alignment of the TCTN1 sequence (GenBank BC040113) with the genomic sequence (GRCh37).</p><p>Reiter and Skarnes (2006) mapped the mouse tectonic gene to chromosome 5. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Reiter and Skarnes (2006) found that mouse tectonic modulated hedgehog (see SHH; 600725) signaling downstream of smoothened (SMOH; 601500) and Rab23 (606144) and was required for maximal hedgehog activation. </p><p>Using mass spectrometric analysis and immunoprecipitation studies of mouse proteins and cultured murine cells, Garcia-Gonzalo et al. (2011) showed that Tctn1 is part of a ciliopathy-associated protein complex and interacts with several genes associated with ciliopathies, including Mks1 (609883), Cc2d2a (612013), and Tctn2 (613846). The 2 strongest interactors were Tctn2 and Tctn3 (613847), indicating that these 3 tectonic proteins are part of the same complex. TCTN1 also interacted with B9d1 (614144) and Tmem216 (613277), Tmem67 (609884), and Cep290 (610142) under some conditions. In cultured ciliated cells, Tctn1 localized with these proteins to the transition zone between the ciliary axoneme and the basal body, where it regulates ciliogenesis in a tissue-dependent manner. Studies of fibroblasts derived from Tctn1-null mice showed that the tectonic complex also controls ciliary membrane composition, and is needed for proper ciliary localization of Adcy3 (600291), Pkd2 (173910), Smo (601500), and Arl13b (608922). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By homozygosity mapping followed by candidate gene sequencing, Garcia-Gonzalo et al. (2011) identified a homozygous splice site mutation in the TCTN1 gene (609863.0001) in 2 sisters, born of consanguineous Bangladeshi parents, with Joubert syndrome-13 (JBTS13; 614173). Investigation of 4 families homozygous at the TCTN1 locus and 48 families with JBTS identified no additional mutations, suggesting that TCTN1 mutations are a rare cause of Joubert syndrome. </p><p>In a 27-week-old male fetus with JBTS13, Srour et al. (2015) identified compound heterozygous mutations in the TCTN1 gene (609863.0001 and 609863.0002). The mutations were found by whole-exome sequencing. Functional studies and studies of patient cells were not performed. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Reiter and Skarnes (2006) found that tectonic-null mice died between embryonic days 13.5 and 16.5 and displayed holoprosencephaly. V3 interneurons were lost in tectonic mutants. Loss of ventral neural markers in tectonic-null mice was accompanied by a ventral expansion of genes normally restricted to more dorsal domains. Examination of tectonic-Shh double mutants showed that tectonic could repress as well as activate hedgehog signaling. </p><p>By studies in Tctn1-null mice, Garcia-Gonzalo et al. (2011) determined that Tctn1 is required for ciliogenesis in a tissue-dependent manner. Tctn1-null mice showed disruption of nodal flow, laterality defects, and neural tube dorsalization. Basal bodies docked to the cellular plasma membrane, but failed to extend axonemes. However, cilia were present in the notochord, early gut epithelium, and mesenchymal cells surrounding the neural tube and in the limb bud. Tctn1 -/- embryos developed an extra preaxial digit on 1 or both hindlimbs. Although Shh expression was normal, downstream signaling was disturbed, suggesting that Tctn1 is required for cilium-dependent Shh signal transduction. Tctn2 (613846)-null and Cc2d2a (612013)-null mice showed a similar phenotype, suggesting that these 3 genes share a common function affecting ciliogenesis in a tissue-specific manner. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>2 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 JOUBERT SYNDROME 13</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TCTN1, IVS1AS, A-G, -2
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<br />
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SNP: rs367543065, rs751962801,
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gnomAD: rs751962801,
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ClinVar: RCV000023788, RCV000207452, RCV003765338, RCV004808556
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>By homozygosity mapping followed by candidate gene sequencing in 2 sisters, born of consanguineous Bangladeshi parents, with Joubert syndrome-13 (JBTS13; 614173), Garcia-Gonzalo et al. (2011) identified a homozygous A-to-G transition in intron 1 of the TCTN1 gene, resulting in a splice site mutation predicted to disrupt domains of the protein required for its function. The mutation was not found in 96 controls or in the 1000 Genomes Project data. Brain MRI showed cerebellar vermis hypoplasia and the molar tooth sign, the characteristic radiographic feature of JBTS. One girl also had bilateral frontotemporal pachygyria. Ophthalmologic assessment and renal ultrasounds were normal at ages 7 years and 4 years, respectively. </p><p>In a 27-week-old male fetus (HSJ-JBTS-2) with JBTS13, Srour et al. (2015) identified compound heterozygous mutations in the TCTN1 gene: c.342-2A-C (c.342-2A-C, NM_001082538.2), which the authors stated was the same as the mutation identified by Garcia-Gonzalo et al. (2011), and a c.898C-T transition, resulting in an arg300-to-ter (R300X; 609863.0002) substitution. The mutations were found by whole-exome sequencing. Functional studies and studies of patient cells were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 JOUBERT SYNDROME 13</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TCTN1, ARG300TER
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<br />
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ClinVar: RCV000207452, RCV003765338
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the c.898C-T transition (c.898C-T, NM_001082538.2) in the TCTN1 gene, resulting in an arg300-to-ter (R300X) substitution, that was found in compound heterozygous state in a fetus with Joubert syndrome-13 (JBTS13; 614173) by Srour et al. (2015), see 609863.0001. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Garcia-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C. L., Josifova, D. J., Garcia-Verdugo, J. M., Katsanis, N., Hildebrandt, F., Reiter, J. F.
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<strong>A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.</strong>
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Nature Genet. 43: 776-784, 2011.
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[PubMed: 21725307]
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[Full Text: https://doi.org/10.1038/ng.891]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 3/29/2011.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Reiter, J. F., Skarnes, W. C.
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<strong>Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.</strong>
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Genes Dev. 20: 22-27, 2006.
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[PubMed: 16357211]
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[Full Text: https://doi.org/10.1101/gad.1363606]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Srour, M., Hamdan, F. F., McKnight, D., Davis, E., Mandel, H., Schwartzentruber, J., Martin, B., Patry, L., Nassif, C., Dionne-Laporte, A., Ospina, L. H., Lemyre, E., and 22 others.
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<strong>Joubert syndrome in French Canadians and identification of mutations in CEP104.</strong>
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Am. J. Hum. Genet. 97: 744-753, 2015.
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[PubMed: 26477546]
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[Full Text: https://doi.org/10.1016/j.ajhg.2015.09.009]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/10/2016<br>Cassandra L. Kniffin - updated : 8/18/2011<br>Matthew B. Gross - updated : 3/29/2011
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 1/30/2006
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/10/2016<br>ckniffin : 2/10/2016<br>alopez : 8/23/2011<br>ckniffin : 8/18/2011<br>mgross : 3/29/2011<br>mgross : 3/29/2011<br>mgross : 1/30/2006
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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