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Entry
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- *300202 - TRACKING PROTEIN PARTICLE COMPLEX, SUBUNIT 2; TRAPPC2
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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">*300202</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</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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<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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<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 role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300202">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 id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000196459;t=ENST00000380579" 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=6399" 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=300202" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000196459;t=ENST00000380579" 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_001011658,NM_001128835,NM_014563,XM_011545566,XM_047442351,XM_047442352" 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_001011658" 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=300202" 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=02189&isoform_id=02189_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/TRAPPC2" 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/7657548,16877318,21336476,30851694,58533179,119619235,119619236,119619237,119619238,119619239,119619240,189053970,291045294,347662477,768032678,2217393670,2217393672,2462630498,2462630500" 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/P0DI81" 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=6399" 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=ENSG00000196459;t=ENST00000380579" 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=TRAPPC2" 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=TRAPPC2" 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+6399" 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/TRAPPC2" 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:6399" 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/6399" 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=chrX&hgg_gene=ENST00000380579.6&hgg_start=13712245&hgg_end=13734620&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:23068" 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://medlineplus.gov/genetics/gene/trappc2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300202[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=300202[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/ENSG00000196459" 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.gwascentral.org/search?q=TRAPPC2" 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=TRAPPC2" 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=TRAPPC2&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/PA35631" 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:23068" 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/FBgn0266724.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/search?q=MGI:1913300 MGI:1913476" 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/TRAPPC2#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/batch/summary?idType=MGI&ids=MGI:1913300 MGI:1913476" 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/6399/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002834/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=6399" 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=WBGene00021046;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-060929-1266" 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=TRAPPC2&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 51952004<br />
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">ICD+</a>
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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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300202
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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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TRACKING PROTEIN PARTICLE COMPLEX, SUBUNIT 2; TRAPPC2
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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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|
SEDLIN; SEDL
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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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TRAPPC2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TRAPPC2</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">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/X/69?start=-3&limit=10&highlight=69">Xp22.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:13712245-13734620&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'})">X:13,712,245-13,734,620</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
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>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/69?start=-3&limit=10&highlight=69">
|
|
Xp22.2
|
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</a>
|
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</span>
|
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</td>
|
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|
|
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<td>
|
|
<span class="mim-font">
|
|
Spondyloepiphyseal dysplasia tarda
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/313400"> 313400 </a>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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/300202" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300202" 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>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
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</h4>
|
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<p>TRAPPC2 is a component of the TRAPP multisubunit tethering complex involved in intracellular vesicle trafficking (<a href="#12" class="mim-tip-reference" title="Scrivens, P. J., Noueihed, B., Shahrzad, N., Hul, S., Brunet, S., Sacher, M. <strong>C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking.</strong> Molec. Biol. Cell 22: 2083-2093, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21525244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21525244</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21525244[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/10.1091/mbc.E10-11-0873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21525244">Scrivens et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21525244" 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>The spondyloepiphyseal dysplasia tarda (SEDT; <a href="/entry/313400">313400</a>) locus had been mapped by linkage to Xp22 in the approximately 2-Mb interval between DXS16 and DXS987. <a href="#6" class="mim-tip-reference" title="Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., Tiller, G. E., Mulley, J. C., Gecz, J. <strong>Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.</strong> Nature Genet. 22: 400-404, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431248</a>] [<a href="https://doi.org/10.1038/11976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431248">Gedeon et al. (1999)</a> confirmed and refined this localization to an interval of less than 170 kb by critical recombination events at DXS16 and AFMa124wc1 in 2 families. By genomic sequence analysis, they identified a novel gene, which they designated SEDL, within this region. The SEDL gene encodes a 140-amino acid protein, sedlin, with a putative role in endoplasmic reticulum (ER)-to-Golgi vesicular transport. Northern blot hybridization and RT-PCR analysis indicated that SEDL is widely expressed in tissues, including fibroblasts, lymphoblasts, and fetal cartilage. Two transcripts were detected by Northern blot analysis, one at approximately 2.8 kb encoding the X-linked SEDL and the other at approximately 0.75 kb encoding the truncated transcript of the chromosome 19 pseudogene. The latter is a processed pseudogene with an additional exon 5-prime to the rest of the pseudogene and separated by its sole intron. <a href="#6" class="mim-tip-reference" title="Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., Tiller, G. E., Mulley, J. C., Gecz, J. <strong>Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.</strong> Nature Genet. 22: 400-404, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431248</a>] [<a href="https://doi.org/10.1038/11976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431248">Gedeon et al. (1999)</a> identified SEDL homologs in yeast, Drosophila, Caenorhabditis elegans, mouse, and rat. The yeast homolog was characterized as a member of a large multiprotein complex called TRAPP (transport protein particle), which has a role in the targeting and fusion of the ER-to-Golgi transport vesicles with their acceptor compartment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10431248" 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 Northern blot analysis, <a href="#11" class="mim-tip-reference" title="Mumm, S., Zhang, X., Vacca, M., D'Esposito, M., Whyte, M. P. <strong>The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site.</strong> Gene 273: 285-293, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11595175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11595175</a>] [<a href="https://doi.org/10.1016/s0378-1119(01)00571-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11595175">Mumm et al. (2001)</a> detected additional minor SEDL transcripts of 5.0 and 1.6 kb, the smallest of which may reflect a pseudogene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11595175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Gecz, J., Hillman, M. A., Gedeon, A. K., Cox, T. C., Baker, E., Mulley, J. C. <strong>Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.</strong> Genomics 69: 242-251, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11031107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11031107</a>] [<a href="https://doi.org/10.1006/geno.2000.6326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11031107">Gecz et al. (2000)</a> performed transient transfection studies with tagged recombinant mammalian SEDL proteins in COS-7 cells. The tagged SEDL proteins localized to the perinuclear structures that partly overlapped with the intermediate ER-Golgi compartment. Two human SEDL mutations introduced into SEDL FLAG and GFP constructs led to the misplacement of the SEDL protein primarily to the cell nucleus and partially to the cytoplasm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11031107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Gecz, J., Hillman, M. A., Gedeon, A. K., Cox, T. C., Baker, E., Mulley, J. C. <strong>Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.</strong> Genomics 69: 242-251, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11031107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11031107</a>] [<a href="https://doi.org/10.1006/geno.2000.6326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11031107">Gecz et al. (2000)</a> identified the genomic structure of the SEDL gene. The SEDL gene contains 6 exons and spans a genomic region of approximately 20 kb in Xp22. It has 4 Alu sequences in its 3-prime untranslated region (UTR) and an alternatively spliced MER20 sequence in its 5-prime UTR. Complex alternative splicing was detected for exon 4. <a href="#11" class="mim-tip-reference" title="Mumm, S., Zhang, X., Vacca, M., D'Esposito, M., Whyte, M. P. <strong>The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site.</strong> Gene 273: 285-293, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11595175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11595175</a>] [<a href="https://doi.org/10.1016/s0378-1119(01)00571-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11595175">Mumm et al. (2001)</a> confirmed the structure of the SEDL gene and identified a potential splice variant lacking exon 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11595175+11031107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., Tiller, G. E., Mulley, J. C., Gecz, J. <strong>Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.</strong> Nature Genet. 22: 400-404, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431248</a>] [<a href="https://doi.org/10.1038/11976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431248">Gedeon et al. (1999)</a> determined that the SEDL gene maps to chromosome Xp22. <a href="#5" class="mim-tip-reference" title="Gecz, J., Hillman, M. A., Gedeon, A. K., Cox, T. C., Baker, E., Mulley, J. C. <strong>Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.</strong> Genomics 69: 242-251, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11031107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11031107</a>] [<a href="https://doi.org/10.1006/geno.2000.6326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11031107">Gecz et al. (2000)</a> identified 7 SEDL pseudogenes in the human genome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11031107+10431248" 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="#12" class="mim-tip-reference" title="Scrivens, P. J., Noueihed, B., Shahrzad, N., Hul, S., Brunet, S., Sacher, M. <strong>C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking.</strong> Molec. Biol. Cell 22: 2083-2093, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21525244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21525244</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21525244[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/10.1091/mbc.E10-11-0873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21525244">Scrivens et al. (2011)</a> used tandem affinity purification-tagged TRAPPC2 and TRAPPC2L (<a href="/entry/610970">610970</a>) to identify purified TRAPP complexes from HEK293 cells. Knockdown of individual components of the TRAPP complexes caused Golgi fragmentation and arrested anterograde trafficking, suggesting that the TRAPP complex functions in an early trafficking step between the endoplasmic reticulum and Golgi. Gel filtration analysis suggested that TRAPP complexes can join to form larger oligomers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21525244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Venditti, R., Scanu, T., Santoro, M., Di Tullio, G., Spaar, A., Gaibisso, R., Beznoussenko, G. V., Mironov, A. A., Mironov, A., Jr., Zelante, L., Piemontese, M. R., Notarangelo, A., Malhotra, V., Vertel, B. M., Wilson, C., De Matteis, M. A. <strong>Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.</strong> Science 337: 1668-1672, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23019651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23019651</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23019651[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1224947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23019651">Venditti et al. (2012)</a> found that TANGO1 (<a href="/entry/613455">613455</a>) recruits sedlin, a TRAPP component that is defective in spondyloepiphyseal dysplasia tarda, and that sedlin is required for the ER export of procollagen, prefibrils of which are too large to fit into typical COPII vesicles. Sedlin bound and promoted efficient cycling of SAR1 (<a href="/entry/603379">603379</a>), a guanosine triphosphate that can constrict membranes, and thus allowed nascent carriers to grow and incorporate procollagen prefibrils. This joint action of TANGO1 and sedlin sustained the ER export of procollagen, and its derangement may explain the defective chondrogenesis underlying SEDT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23019651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., Tiller, G. E., Mulley, J. C., Gecz, J. <strong>Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.</strong> Nature Genet. 22: 400-404, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431248</a>] [<a href="https://doi.org/10.1038/11976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431248">Gedeon et al. (1999)</a> identified 3 dinucleotide deletions in the SEDL gene in affected members of 3 Australian families with SEDT. All 3 mutations caused frameshifts that resulted in protein truncation, arousing speculation that less severe missense mutations of SEDL may have different phenotypic effects, such as precocious osteoarthritis only. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10431248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Gedeon, A. K., Tiller, G. E., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, I. A., Savarirayan, R., Cole, W. G., Rimoin, D. L., Kousseff, B. G., Ohashi, H., Zabel, B., Munnich, A., Gecz, J., Mulley, J. C. <strong>The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.</strong> Am. J. Hum. Genet. 68: 1386-1397, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11349230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11349230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11349230[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320592" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11349230">Gedeon et al. (2001)</a> reviewed the spectrum of mutations found in 30 of 36 unrelated cases of X-linked SEDT ascertained from different ethnic populations. It brought the total number of different disease-associated mutations to 21 and showed that they were distributed throughout the SEDL gene. Four recurrent mutations accounted for 13 of the 30 (43%). Haplotype analyses and the diverse ethnic origins of the patients supported recurrent mutations. Two patients with large deletions of SEDL exons were found, 1 with childhood onset of painful complications, the other relatively free of additional symptoms. Since no clear genotype/phenotype correlation could be established, they concluded that the complete unaltered SEDL gene product is essential for normal bone growth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11349230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Tiller, G. E., Hannig, V. L., Dozier, D., Carrel, L., Trevarthen, K. C., Wilcox, W. R., Mundlos, S., Haines, J. L., Gedeon, A. K., Gecz, J. <strong>A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.</strong> Am. J. Hum. Genet. 68: 1398-1407, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11326333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11326333</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11326333[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320594" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11326333">Tiller et al. (2001)</a> determined that the SEDL gene escapes X inactivation. They reported that the closest flanking genes identified at Xp22.2 also escape X inactivation. Clustering supported a model in which reasonable mechanisms may control the expression of genes that escape X inactivation. Most mutations in SEDL patients are predicted to truncate severely the protein product or eliminate it entirely. The observation that SEDL escapes X inactivation suggests that haploinsufficiency at the locus is inadequate to produce any phenotypic changes in female SEDL carriers. Although <a href="#18" class="mim-tip-reference" title="Whyte, M. P., Gottesman, G. S., Eddy, M. C., McAlister, W. H. <strong>X-linked recessive spondyloepiphyseal dysplasia tarda: clinical and radiographic evolution in a 6-generation kindred and review of the literature.</strong> Medicine 78: 9-25, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9990351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9990351</a>] [<a href="https://doi.org/10.1097/00005792-199901000-00002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9990351">Whyte et al. (1999)</a> observed subtle radiographic changes in older SEDL carriers, no signs or symptoms of premature osteoarthritis were noted in the women of the family reported by <a href="#16" class="mim-tip-reference" title="Tiller, G. E., Hannig, V. L., Dozier, D., Carrel, L., Trevarthen, K. C., Wilcox, W. R., Mundlos, S., Haines, J. L., Gedeon, A. K., Gecz, J. <strong>A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.</strong> Am. J. Hum. Genet. 68: 1398-1407, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11326333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11326333</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11326333[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320594" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11326333">Tiller et al. (2001)</a> or those reported by <a href="#6" class="mim-tip-reference" title="Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., Tiller, G. E., Mulley, J. C., Gecz, J. <strong>Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.</strong> Nature Genet. 22: 400-404, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431248</a>] [<a href="https://doi.org/10.1038/11976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431248">Gedeon et al. (1999)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9990351+10431248+11326333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Christie, P. T., Curley, A., Nesbit, M. A., Chapman, C., Genet, S., Harper, P. S., Keeling, S. L., Wilkie, A. O. M., Winter, R. M., Thakker, R. V. <strong>Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.</strong> J. Clin. Endocr. Metab. 86: 3233-3236, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11443194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11443194</a>] [<a href="https://doi.org/10.1210/jcem.86.7.7688" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11443194">Christie et al. (2001)</a> characterized the SEDL mutations in 4 unrelated spondyloepiphyseal dysplasia tarda kindreds of European origin. They identified 2 nonsense and 2 intragenic deletional frameshift mutations. The nonsense mutations occurred in exons 4 and 6. Both of the intragenic deletions, which were approximately 750 and 1300 to 1445 bp in size, involved intron 5 and part of exon 6 and resulted in frameshifts that led to premature termination signals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11443194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Grunebaum, E., Arpaia, E., MacKenzie, J. J., Fitzpatrick, J., Ray, P. N., Roifman, C. M. <strong>A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. (Letter)</strong> J. Med. Genet. 38: 409-411, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11424925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11424925</a>] [<a href="https://doi.org/10.1136/jmg.38.6.409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11424925">Grunebaum et al. (2001)</a> identified a missense mutation (<a href="#0007">300202.0007</a>) in a 4-generation family with late-onset SED. <a href="#8" class="mim-tip-reference" title="Grunebaum, E., Arpaia, E., MacKenzie, J. J., Fitzpatrick, J., Ray, P. N., Roifman, C. M. <strong>A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. (Letter)</strong> J. Med. Genet. 38: 409-411, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11424925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11424925</a>] [<a href="https://doi.org/10.1136/jmg.38.6.409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11424925">Grunebaum et al. (2001)</a> suggested that the mild phenotype in this family might be caused by a missense rather than a nonsense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11424925" 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>The possibility that some mutations in the SEDL gene may result in a mild phenotype like that of early primary osteoarthritis prompted <a href="#4" class="mim-tip-reference" title="Fiedler, J., Bittner, M., Puhl, W., Brenner, R. E. <strong>Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men. (Letter)</strong> Clin. Genet. 62: 94-95, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12123495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12123495</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.620114.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12123495">Fiedler et al. (2002)</a> to collect a cohort of 37 male patients (age 50.6 +/- 7.6 years) with either early end-stage primary osteoarthritis of the hip (26 patients) or knee (11 patients). Cases with risk factors for secondary osteoarthritis, such as congenital hip dysplasia, rheumatoid arthritis, joint trauma, obesity, or diabetes mellitus, were excluded. Seven patients were stated to be the shortest in the family, while from 8 patients the father (with 158 cm), and from 4 the brother was the shortest member. Six fathers of the patients and 1 brother needed joint replacement because of end-stage osteoarthritis. <a href="#4" class="mim-tip-reference" title="Fiedler, J., Bittner, M., Puhl, W., Brenner, R. E. <strong>Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men. (Letter)</strong> Clin. Genet. 62: 94-95, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12123495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12123495</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.620114.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12123495">Fiedler et al. (2002)</a> detected no mutations in the coding sequence of SEDL and found no polymorphism indicating a highly conserved gene. Their findings supported previous results of high homology between different species (<a href="#7" class="mim-tip-reference" title="Gedeon, A. K., Tiller, G. E., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, I. A., Savarirayan, R., Cole, W. G., Rimoin, D. L., Kousseff, B. G., Ohashi, H., Zabel, B., Munnich, A., Gecz, J., Mulley, J. C. <strong>The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.</strong> Am. J. Hum. Genet. 68: 1386-1397, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11349230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11349230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11349230[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320592" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11349230">Gedeon et al., 2001</a>; <a href="#5" class="mim-tip-reference" title="Gecz, J., Hillman, M. A., Gedeon, A. K., Cox, T. C., Baker, E., Mulley, J. C. <strong>Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.</strong> Genomics 69: 242-251, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11031107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11031107</a>] [<a href="https://doi.org/10.1006/geno.2000.6326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11031107">Gecz et al., 2000</a>). The results indicated that mutations in the coding sequence of SEDL are not a common cause of early primary osteoarthritis in men. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11349230+11031107+12123495" 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="#9" class="mim-tip-reference" title="Jang, S. B., Kim, Y.-G., Cho, Y.-S., Suh, P.-G., Kim, K.-H., Oh, B.-H. <strong>Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda.</strong> J. Biol. Chem. 277: 49863-49869, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12361953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12361953</a>] [<a href="https://doi.org/10.1074/jbc.M207436200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12361953">Jang et al. (2002)</a> reported the 2.4-angstrom resolution structure of mouse SEDL, which revealed an unexpected similarity to the structures of the N-terminal regulatory domain of 2 SNAREs, Ykt6p (<a href="/entry/606209">606209</a>) and SEC22B (<a href="/entry/604029">604029</a>), despite no sequence homology to these proteins. The similarity and the presence of an unusually large number of solvent-exposed apolar residues of SEDL suggested that it serves regulatory and/or adaptor functions through multiple protein-protein interactions. <a href="#9" class="mim-tip-reference" title="Jang, S. B., Kim, Y.-G., Cho, Y.-S., Suh, P.-G., Kim, K.-H., Oh, B.-H. <strong>Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda.</strong> J. Biol. Chem. 277: 49863-49869, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12361953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12361953</a>] [<a href="https://doi.org/10.1074/jbc.M207436200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12361953">Jang et al. (2002)</a> noted that of the 4 known missense mutations responsible for SEDT, 3 map to the protein interior, where the mutations would disrupt the structure, and the fourth maps on a surface at which the mutation might abrogate functional interactions with a partner protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12361953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a family with X-linked spondyloepiphyseal dysplasia tarda (SEDT; <a href="/entry/313400">313400</a>), <a href="#6" class="mim-tip-reference" title="Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., Tiller, G. E., Mulley, J. C., Gecz, J. <strong>Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.</strong> Nature Genet. 22: 400-404, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431248</a>] [<a href="https://doi.org/10.1038/11976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431248">Gedeon et al. (1999)</a> observed a dinucleotide deletion of TT at positions 53 and 54 in exon 3 of the SEDL gene, in a string of 5 thymines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10431248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776749 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776749;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012264 OR RCV001851802" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012264, RCV001851802" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012264...</a>
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<p>In a family with X-linked spondyloepiphyseal dysplasia tarda (SEDT; <a href="/entry/313400">313400</a>), <a href="#6" class="mim-tip-reference" title="Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., Tiller, G. E., Mulley, J. C., Gecz, J. <strong>Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.</strong> Nature Genet. 22: 400-404, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431248</a>] [<a href="https://doi.org/10.1038/11976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431248">Gedeon et al. (1999)</a> reported a dinucleotide deletion of TG at positions 191 to 192 in exon 4 of the SEDL gene. <a href="#7" class="mim-tip-reference" title="Gedeon, A. K., Tiller, G. E., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, I. A., Savarirayan, R., Cole, W. G., Rimoin, D. L., Kousseff, B. G., Ohashi, H., Zabel, B., Munnich, A., Gecz, J., Mulley, J. C. <strong>The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.</strong> Am. J. Hum. Genet. 68: 1386-1397, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11349230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11349230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11349230[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320592" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11349230">Gedeon et al. (2001)</a> found that this was a recurrent mutation. The results of haplotype analyses and the diverse ethnic origins of patients supported recurrence of the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11349230+10431248" 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>.0003 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776750 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776750;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012265" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012265" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012265</a>
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<p>In a family with X-linked spondyloepiphyseal dysplasia tarda (SEDT; <a href="/entry/313400">313400</a>), <a href="#6" class="mim-tip-reference" title="Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., Tiller, G. E., Mulley, J. C., Gecz, J. <strong>Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.</strong> Nature Genet. 22: 400-404, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431248</a>] [<a href="https://doi.org/10.1038/11976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431248">Gedeon et al. (1999)</a> identified a deletion of AT at positions 157 and 158 in exon 3 of the SEDL gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10431248" 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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TRAPPC2, 5-BP DEL, NT267
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776751 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776751;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000128610 OR RCV001268697 OR RCV002286695" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000128610, RCV001268697, RCV002286695" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000128610...</a>
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<p><a href="#18" class="mim-tip-reference" title="Whyte, M. P., Gottesman, G. S., Eddy, M. C., McAlister, W. H. <strong>X-linked recessive spondyloepiphyseal dysplasia tarda: clinical and radiographic evolution in a 6-generation kindred and review of the literature.</strong> Medicine 78: 9-25, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9990351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9990351</a>] [<a href="https://doi.org/10.1097/00005792-199901000-00002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9990351">Whyte et al. (1999)</a> described the clinical and radiographic evaluation of a 6-generation kindred from Arkansas with X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT; <a href="/entry/313400">313400</a>). <a href="#10" class="mim-tip-reference" title="Mumm, S., Christie, P. T., Finnegan, P., Jones, J., Dixon, P. H., Pannett, A. A. J., Harding, B., Gottesman, G. S., Thakker, R. V., Whyte, M. P. <strong>A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.</strong> J. Clin. Endocr. Metab. 85: 3343-3347, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10999831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10999831</a>] [<a href="https://doi.org/10.1210/jcem.85.9.6840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10999831">Mumm et al. (2000)</a> investigated this family by mutation analysis. In an affected man and obligate carrier woman, they found a 5-bp deletion (AAGAC) in exon 5 of the sedlin gene. The defect causes a frameshift, resulting in 8 missense amino acids and premature termination. The 5-bp deletion was then demonstrated to segregate with SEDT in the 4 living generations, including 8 affected males and 9 obligate carrier females. Furthermore, the deletion was identified in 4 females who potentially were heterozygous carriers for SEDT. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10999831+9990351" 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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TRAPPC2, 5-BP DEL, NT271
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000128610 OR RCV001268697 OR RCV002286695" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000128610, RCV001268697, RCV002286695" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000128610...</a>
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<p><a href="#7" class="mim-tip-reference" title="Gedeon, A. K., Tiller, G. E., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, I. A., Savarirayan, R., Cole, W. G., Rimoin, D. L., Kousseff, B. G., Ohashi, H., Zabel, B., Munnich, A., Gecz, J., Mulley, J. C. <strong>The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.</strong> Am. J. Hum. Genet. 68: 1386-1397, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11349230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11349230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11349230[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320592" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11349230">Gedeon et al. (2001)</a> stated that the deletion of nucleotides 271-275 was recurrent. The results of haplotype analyses and the diverse ethnic origins of patients with spondyloepiphyseal dysplasia tarda (SEDT; <a href="/entry/313400">313400</a>) supported recurrent mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11349230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587776752 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776752;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs587776752?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776752" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776752" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012268 OR RCV001093294 OR RCV001807724 OR RCV002512980" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012268, RCV001093294, RCV001807724, RCV002512980" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012268...</a>
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<p><a href="#16" class="mim-tip-reference" title="Tiller, G. E., Hannig, V. L., Dozier, D., Carrel, L., Trevarthen, K. C., Wilcox, W. R., Mundlos, S., Haines, J. L., Gedeon, A. K., Gecz, J. <strong>A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.</strong> Am. J. Hum. Genet. 68: 1398-1407, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11326333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11326333</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11326333[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320594" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11326333">Tiller et al. (2001)</a> characterized an exon-skipping mutation in 2 unrelated families with spondyloepiphyseal dysplasia tarda (SEDT; <a href="/entry/313400">313400</a>): IVS3+5G-A at the intron 3 splice donor site. Using RT-PCR, they demonstrated that the mutation resulted in elimination of the first 31 codons of the open reading frame. RT-PCR experiments using mouse/human cell hybrids revealed that the SEDL gene escapes X inactivation. Homologs of the SEDL gene include a transcribed retropseudogene on chromosome 19, as well as expressed genes in mouse, rat, Drosophila, C. elegans, and S. cerevisiae. The yeast homolog, p20, has a putative role in vesicular transport from ER to Golgi complex. The data suggested that SEDL mutations may perturb an intracellular pathway that is important for cartilage homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11326333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894948 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894948;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012269 OR RCV002276543" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012269, RCV002276543" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012269...</a>
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<p><a href="#8" class="mim-tip-reference" title="Grunebaum, E., Arpaia, E., MacKenzie, J. J., Fitzpatrick, J., Ray, P. N., Roifman, C. M. <strong>A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. (Letter)</strong> J. Med. Genet. 38: 409-411, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11424925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11424925</a>] [<a href="https://doi.org/10.1136/jmg.38.6.409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11424925">Grunebaum et al. (2001)</a> identified a 4-generation family with late-onset spondyloepiphyseal dysplasia (SEDT; <a href="/entry/313400">313400</a>) caused by a T-to-C substitution at nucleotide 248 in exon 5 of the SEDL gene, resulting in the substitution of a phenylalanine by serine residue at amino acid 83 (p83). The phenotype in this family was mild, and <a href="#8" class="mim-tip-reference" title="Grunebaum, E., Arpaia, E., MacKenzie, J. J., Fitzpatrick, J., Ray, P. N., Roifman, C. M. <strong>A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. (Letter)</strong> J. Med. Genet. 38: 409-411, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11424925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11424925</a>] [<a href="https://doi.org/10.1136/jmg.38.6.409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11424925">Grunebaum et al. (2001)</a> speculated that this might be due to the presence of a missense rather than a nonsense mutation in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11424925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs122460156 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs122460156;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs122460156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs122460156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012270" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012270" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012270</a>
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<p>In a 14-year-old Japanese boy with late-onset spondyloepiphyseal dysplasia (SEDT; <a href="/entry/313400">313400</a>), <a href="#15" class="mim-tip-reference" title="Takahashi, T., Takahashi, I., Tsuchida, S., Oyama, K., Komatsu, M., Saito, H., Takada, G. <strong>An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda. (Letter)</strong> Clin. Genet. 61: 319-320, 2002. Note: Erratum: Clin. Genet. 64: 375 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12030902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12030902</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610416.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12030902">Takahashi et al. (2002)</a> identified homozygosity for a 391C-T transition in the SEDL gene, resulting in a gln131 (CAG)-to-ter (TAG) (Q131X) substitution. The mother was heterozygous for the mutation. There were 5 affected males in 3 generations connected through carrier females. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12030902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</strong>
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TRAPPC2, SER110TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894949 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894949;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012271" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012271" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012271</a>
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<p>In a 16-year-old Taiwanese boy with late-onset spondyloepiphyseal dysplasia (SEDT; <a href="/entry/313400">313400</a>), the single affected individual in his family, <a href="#14" class="mim-tip-reference" title="Shi, Y.-R., Lee, C.-C., Hsu, Y.-A., Wang, C.-H., Tsai, F.-J. <strong>A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda.</strong> Hum. Hered. 54: 54-56, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12446987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12446987</a>] [<a href="https://doi.org/10.1159/000066694" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12446987">Shi et al. (2002)</a> identified a 329C-A transversion in exon 6 of the SEDL gene, resulting in a TCA (ser) to TAA (ter) change at codon 329 (S329X). The authors stated that 'according to the family history,' 4 male children and an uncle on the maternal side had the clinical features of SEDT. Clinical details were not provided. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12446987" 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>.0010 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</strong>
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TRAPPC2, IVS4, T-C, +4
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776753 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776753;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012272" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012272" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012272</a>
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<p>In an Italian family with 2 brothers affected with spondyloepiphyseal dysplasia tarda (SEDT; <a href="/entry/313400">313400</a>) of different degrees of severity and with pubertal delay as an associated finding, <a href="#13" class="mim-tip-reference" title="Shaw, M. A., Brunetti-Pierri, N., Kadasi, L., Kovacova, V., Van Maldergem, L., De Brasi, D., Salerno, M., Gecz, J. <strong>Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.</strong> Clin. Genet. 64: 235-242, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12919139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12919139</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00132.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12919139">Shaw et al. (2003)</a> found a mutation in the rare, noncanonical 5-prime splice site of intron 4 of the SEDL gene: IVS4+4T-C. RT-PCR analysis showed that this mutation caused alternative splicing of exon 5 and, as a consequence, inclusion of exon 4b sequence. This gave rise to an altered, truncated SEDL protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12919139" 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>.0011 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</strong>
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TRAPPC2, 1-BP DEL, 613A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776754 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776754;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012273" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012273" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012273</a>
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<p>In an Ashkenazi Jewish family with spondyloepiphyseal dysplasia tarda (SEDT; <a href="/entry/313400">313400</a>), <a href="#1" class="mim-tip-reference" title="Bar-Yosef, U., Ohana, E., Hershkovitz, E., Perlmuter, S., Ofir, R., Birk, O. S. <strong>X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.</strong> Am. J. Med. Genet. 125A: 45-48, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755465</a>] [<a href="https://doi.org/10.1002/ajmg.a.20435" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14755465">Bar-Yosef et al. (2004)</a> identified a deletion of nucleotide A at position 613 (613delA) in exon 6 of the SEDL gene, resulting in truncation at codon 139 of the 140-codon-long protein. The authors noted that the mutation also predicts a val130-to-phe substitution that would likely interfere with proper folding of the protein. <a href="#1" class="mim-tip-reference" title="Bar-Yosef, U., Ohana, E., Hershkovitz, E., Perlmuter, S., Ofir, R., Birk, O. S. <strong>X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.</strong> Am. J. Med. Genet. 125A: 45-48, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755465</a>] [<a href="https://doi.org/10.1002/ajmg.a.20435" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14755465">Bar-Yosef et al. (2004)</a> stated that this was the first report of an SEDL mutation in a Jewish family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14755465" 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>.0012 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</strong>
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TRAPPC2, 3-BP DEL, AAT
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777330 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777330;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587777330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000114971" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000114971" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000114971</a>
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<p>In a Turkish male with features suggestive of spondyloepiphyseal dysplasia tarda (SEDT; <a href="/entry/313400">313400</a>) and his unaffected mother, <a href="#3" class="mim-tip-reference" title="Davis, E. E., Savage, J. H., Willer, J. R., Jiang, Y.-H., Angrist, M., Androutsopoulos, A., Katsanis, N. <strong>Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.</strong> Clin. Genet. 85: 359-364, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23656395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23656395</a>] [<a href="https://doi.org/10.1111/cge.12189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23656395">Davis et al. (2014)</a> identified a 3-bp deletion in intron 4 of the TRAPPC2 gene, c.341-(11_9)delAAT, by exome sequencing. RT-PCR analysis of cell lysates from the patient showed 2 aberrantly spliced signals. Sanger sequencing revealed that the c.341-(11_9)delAAT leads to exon 5 skipping. The authors concluded that the mutation disrupts the function of sedlin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23656395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1002/ajmg.a.20435" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1210/jcem.86.7.7688" target="_blank">Full Text</a>]
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<a id="Davis2014" class="mim-anchor"></a>
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Davis, E. E., Savage, J. H., Willer, J. R., Jiang, Y.-H., Angrist, M., Androutsopoulos, A., Katsanis, N.
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<strong>Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.</strong>
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Clin. Genet. 85: 359-364, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23656395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23656395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23656395" 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/10.1111/cge.12189" target="_blank">Full Text</a>]
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<a id="Fiedler2002" class="mim-anchor"></a>
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Fiedler, J., Bittner, M., Puhl, W., Brenner, R. E.
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<strong>Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men. (Letter)</strong>
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Clin. Genet. 62: 94-95, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12123495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12123495</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12123495" 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/10.1034/j.1399-0004.2002.620114.x" target="_blank">Full Text</a>]
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<a id="Gecz2000" class="mim-anchor"></a>
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Gecz, J., Hillman, M. A., Gedeon, A. K., Cox, T. C., Baker, E., Mulley, J. C.
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<strong>Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11031107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11031107</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11031107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.2000.6326" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/11976" target="_blank">Full Text</a>]
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Gedeon, A. K., Tiller, G. E., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, I. A., Savarirayan, R., Cole, W. G., Rimoin, D. L., Kousseff, B. G., Ohashi, H., Zabel, B., Munnich, A., Gecz, J., Mulley, J. C.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11349230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11349230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11349230[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=11349230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/320592" target="_blank">Full Text</a>]
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<strong>A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. (Letter)</strong>
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[<a href="https://doi.org/10.1136/jmg.38.6.409" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1074/jbc.M207436200" target="_blank">Full Text</a>]
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Mumm, S., Christie, P. T., Finnegan, P., Jones, J., Dixon, P. H., Pannett, A. A. J., Harding, B., Gottesman, G. S., Thakker, R. V., Whyte, M. P.
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[<a href="https://doi.org/10.1210/jcem.85.9.6840" target="_blank">Full Text</a>]
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Mumm, S., Zhang, X., Vacca, M., D'Esposito, M., Whyte, M. P.
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<strong>The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site.</strong>
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[<a href="https://doi.org/10.1016/s0378-1119(01)00571-6" target="_blank">Full Text</a>]
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Scrivens, P. J., Noueihed, B., Shahrzad, N., Hul, S., Brunet, S., Sacher, M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21525244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21525244</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21525244[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=21525244" 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/10.1091/mbc.E10-11-0873" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12919139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12919139</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12919139" 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/10.1034/j.1399-0004.2003.00132.x" target="_blank">Full Text</a>]
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<div class="">
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<p class="mim-text-font">
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Shi, Y.-R., Lee, C.-C., Hsu, Y.-A., Wang, C.-H., Tsai, F.-J.
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<strong>A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda.</strong>
|
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Hum. Hered. 54: 54-56, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12446987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12446987</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12446987" 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/10.1159/000066694" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Takahashi2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Takahashi, T., Takahashi, I., Tsuchida, S., Oyama, K., Komatsu, M., Saito, H., Takada, G.
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<strong>An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda. (Letter)</strong>
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Clin. Genet. 61: 319-320, 2002. Note: Erratum: Clin. Genet. 64: 375 only, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12030902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12030902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12030902" 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/10.1034/j.1399-0004.2002.610416.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Tiller2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tiller, G. E., Hannig, V. L., Dozier, D., Carrel, L., Trevarthen, K. C., Wilcox, W. R., Mundlos, S., Haines, J. L., Gedeon, A. K., Gecz, J.
|
|
<strong>A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.</strong>
|
|
Am. J. Hum. Genet. 68: 1398-1407, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11326333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11326333</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11326333[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=11326333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/320594" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Venditti2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Venditti, R., Scanu, T., Santoro, M., Di Tullio, G., Spaar, A., Gaibisso, R., Beznoussenko, G. V., Mironov, A. A., Mironov, A., Jr., Zelante, L., Piemontese, M. R., Notarangelo, A., Malhotra, V., Vertel, B. M., Wilson, C., De Matteis, M. A.
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<strong>Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.</strong>
|
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Science 337: 1668-1672, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23019651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23019651</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23019651[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=23019651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1224947" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Whyte1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Whyte, M. P., Gottesman, G. S., Eddy, M. C., McAlister, W. H.
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<strong>X-linked recessive spondyloepiphyseal dysplasia tarda: clinical and radiographic evolution in a 6-generation kindred and review of the literature.</strong>
|
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Medicine 78: 9-25, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9990351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9990351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9990351" 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/10.1097/00005792-199901000-00002" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ingrid M. Wentzensen - updated : 4/25/2014
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 10/24/2012<br>Patricia A. Hartz - updated : 7/22/2011<br>Marla J. F. O'Neill - updated : 5/18/2004<br>Victor A. McKusick - updated : 10/16/2003<br>Victor A. McKusick - updated : 3/5/2003<br>Victor A. McKusick - updated : 2/24/2003<br>Victor A. McKusick - updated : 8/21/2002<br>Victor A. McKusick - updated : 8/12/2002<br>Michael J. Wright - updated : 7/26/2002<br>Paul J. Converse - updated : 4/11/2002<br>John A. Phillips, III - updated : 3/5/2002<br>Victor A. McKusick - updated : 6/20/2001<br>John A. Phillips, III - updated : 3/21/2001<br>Ada Hamosh - updated : 1/3/2001
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</span>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh : 8/4/1999
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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<div 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 : 05/03/2022
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mcolton : 04/25/2014<br>carol : 4/25/2014<br>alopez : 10/25/2012<br>alopez : 10/25/2012<br>alopez : 10/25/2012<br>terry : 10/24/2012<br>carol : 5/30/2012<br>wwang : 8/5/2011<br>terry : 7/22/2011<br>mgross : 4/20/2007<br>carol : 3/22/2007<br>carol : 5/26/2004<br>mgross : 5/19/2004<br>carol : 5/19/2004<br>terry : 5/18/2004<br>cwells : 10/21/2003<br>terry : 10/16/2003<br>tkritzer : 3/18/2003<br>tkritzer : 3/11/2003<br>terry : 3/5/2003<br>carol : 3/3/2003<br>tkritzer : 2/25/2003<br>terry : 2/24/2003<br>tkritzer : 8/27/2002<br>tkritzer : 8/26/2002<br>terry : 8/21/2002<br>tkritzer : 8/15/2002<br>tkritzer : 8/14/2002<br>terry : 8/12/2002<br>tkritzer : 8/2/2002<br>tkritzer : 8/1/2002<br>terry : 7/26/2002<br>mgross : 4/11/2002<br>alopez : 3/5/2002<br>cwells : 7/3/2001<br>terry : 6/20/2001<br>alopez : 3/21/2001<br>carol : 1/7/2001<br>terry : 1/3/2001<br>alopez : 8/5/1999<br>alopez : 8/4/1999<br>alopez : 8/4/1999
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</span>
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</div>
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 300202
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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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TRACKING PROTEIN PARTICLE COMPLEX, SUBUNIT 2; TRAPPC2
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</h3>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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SEDLIN; SEDL
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TRAPPC2</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 51952004;
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</span>
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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: Xp22.2
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Genomic coordinates <span class="small">(GRCh38)</span> : X:13,712,245-13,734,620 </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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<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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<td rowspan="1">
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<span class="mim-font">
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Xp22.2
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<td>
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<span class="mim-font">
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Spondyloepiphyseal dysplasia tarda
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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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313400
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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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X-linked 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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<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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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</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>TRAPPC2 is a component of the TRAPP multisubunit tethering complex involved in intracellular vesicle trafficking (Scrivens et al., 2011). </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>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>The spondyloepiphyseal dysplasia tarda (SEDT; 313400) locus had been mapped by linkage to Xp22 in the approximately 2-Mb interval between DXS16 and DXS987. Gedeon et al. (1999) confirmed and refined this localization to an interval of less than 170 kb by critical recombination events at DXS16 and AFMa124wc1 in 2 families. By genomic sequence analysis, they identified a novel gene, which they designated SEDL, within this region. The SEDL gene encodes a 140-amino acid protein, sedlin, with a putative role in endoplasmic reticulum (ER)-to-Golgi vesicular transport. Northern blot hybridization and RT-PCR analysis indicated that SEDL is widely expressed in tissues, including fibroblasts, lymphoblasts, and fetal cartilage. Two transcripts were detected by Northern blot analysis, one at approximately 2.8 kb encoding the X-linked SEDL and the other at approximately 0.75 kb encoding the truncated transcript of the chromosome 19 pseudogene. The latter is a processed pseudogene with an additional exon 5-prime to the rest of the pseudogene and separated by its sole intron. Gedeon et al. (1999) identified SEDL homologs in yeast, Drosophila, Caenorhabditis elegans, mouse, and rat. The yeast homolog was characterized as a member of a large multiprotein complex called TRAPP (transport protein particle), which has a role in the targeting and fusion of the ER-to-Golgi transport vesicles with their acceptor compartment. </p><p>By Northern blot analysis, Mumm et al. (2001) detected additional minor SEDL transcripts of 5.0 and 1.6 kb, the smallest of which may reflect a pseudogene. </p><p>Gecz et al. (2000) performed transient transfection studies with tagged recombinant mammalian SEDL proteins in COS-7 cells. The tagged SEDL proteins localized to the perinuclear structures that partly overlapped with the intermediate ER-Golgi compartment. Two human SEDL mutations introduced into SEDL FLAG and GFP constructs led to the misplacement of the SEDL protein primarily to the cell nucleus and partially to the cytoplasm. </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>Gecz et al. (2000) identified the genomic structure of the SEDL gene. The SEDL gene contains 6 exons and spans a genomic region of approximately 20 kb in Xp22. It has 4 Alu sequences in its 3-prime untranslated region (UTR) and an alternatively spliced MER20 sequence in its 5-prime UTR. Complex alternative splicing was detected for exon 4. Mumm et al. (2001) confirmed the structure of the SEDL gene and identified a potential splice variant lacking exon 2. </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>Gedeon et al. (1999) determined that the SEDL gene maps to chromosome Xp22. Gecz et al. (2000) identified 7 SEDL pseudogenes in the human genome. </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">
|
|
<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>Scrivens et al. (2011) used tandem affinity purification-tagged TRAPPC2 and TRAPPC2L (610970) to identify purified TRAPP complexes from HEK293 cells. Knockdown of individual components of the TRAPP complexes caused Golgi fragmentation and arrested anterograde trafficking, suggesting that the TRAPP complex functions in an early trafficking step between the endoplasmic reticulum and Golgi. Gel filtration analysis suggested that TRAPP complexes can join to form larger oligomers. </p><p>Venditti et al. (2012) found that TANGO1 (613455) recruits sedlin, a TRAPP component that is defective in spondyloepiphyseal dysplasia tarda, and that sedlin is required for the ER export of procollagen, prefibrils of which are too large to fit into typical COPII vesicles. Sedlin bound and promoted efficient cycling of SAR1 (603379), a guanosine triphosphate that can constrict membranes, and thus allowed nascent carriers to grow and incorporate procollagen prefibrils. This joint action of TANGO1 and sedlin sustained the ER export of procollagen, and its derangement may explain the defective chondrogenesis underlying SEDT. </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>Gedeon et al. (1999) identified 3 dinucleotide deletions in the SEDL gene in affected members of 3 Australian families with SEDT. All 3 mutations caused frameshifts that resulted in protein truncation, arousing speculation that less severe missense mutations of SEDL may have different phenotypic effects, such as precocious osteoarthritis only. </p><p>Gedeon et al. (2001) reviewed the spectrum of mutations found in 30 of 36 unrelated cases of X-linked SEDT ascertained from different ethnic populations. It brought the total number of different disease-associated mutations to 21 and showed that they were distributed throughout the SEDL gene. Four recurrent mutations accounted for 13 of the 30 (43%). Haplotype analyses and the diverse ethnic origins of the patients supported recurrent mutations. Two patients with large deletions of SEDL exons were found, 1 with childhood onset of painful complications, the other relatively free of additional symptoms. Since no clear genotype/phenotype correlation could be established, they concluded that the complete unaltered SEDL gene product is essential for normal bone growth. </p><p>Tiller et al. (2001) determined that the SEDL gene escapes X inactivation. They reported that the closest flanking genes identified at Xp22.2 also escape X inactivation. Clustering supported a model in which reasonable mechanisms may control the expression of genes that escape X inactivation. Most mutations in SEDL patients are predicted to truncate severely the protein product or eliminate it entirely. The observation that SEDL escapes X inactivation suggests that haploinsufficiency at the locus is inadequate to produce any phenotypic changes in female SEDL carriers. Although Whyte et al. (1999) observed subtle radiographic changes in older SEDL carriers, no signs or symptoms of premature osteoarthritis were noted in the women of the family reported by Tiller et al. (2001) or those reported by Gedeon et al. (1999). </p><p>Christie et al. (2001) characterized the SEDL mutations in 4 unrelated spondyloepiphyseal dysplasia tarda kindreds of European origin. They identified 2 nonsense and 2 intragenic deletional frameshift mutations. The nonsense mutations occurred in exons 4 and 6. Both of the intragenic deletions, which were approximately 750 and 1300 to 1445 bp in size, involved intron 5 and part of exon 6 and resulted in frameshifts that led to premature termination signals. </p><p>Grunebaum et al. (2001) identified a missense mutation (300202.0007) in a 4-generation family with late-onset SED. Grunebaum et al. (2001) suggested that the mild phenotype in this family might be caused by a missense rather than a nonsense mutation. </p><p>The possibility that some mutations in the SEDL gene may result in a mild phenotype like that of early primary osteoarthritis prompted Fiedler et al. (2002) to collect a cohort of 37 male patients (age 50.6 +/- 7.6 years) with either early end-stage primary osteoarthritis of the hip (26 patients) or knee (11 patients). Cases with risk factors for secondary osteoarthritis, such as congenital hip dysplasia, rheumatoid arthritis, joint trauma, obesity, or diabetes mellitus, were excluded. Seven patients were stated to be the shortest in the family, while from 8 patients the father (with 158 cm), and from 4 the brother was the shortest member. Six fathers of the patients and 1 brother needed joint replacement because of end-stage osteoarthritis. Fiedler et al. (2002) detected no mutations in the coding sequence of SEDL and found no polymorphism indicating a highly conserved gene. Their findings supported previous results of high homology between different species (Gedeon et al., 2001; Gecz et al., 2000). The results indicated that mutations in the coding sequence of SEDL are not a common cause of early primary osteoarthritis in men. </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">
|
|
<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>Jang et al. (2002) reported the 2.4-angstrom resolution structure of mouse SEDL, which revealed an unexpected similarity to the structures of the N-terminal regulatory domain of 2 SNAREs, Ykt6p (606209) and SEC22B (604029), despite no sequence homology to these proteins. The similarity and the presence of an unusually large number of solvent-exposed apolar residues of SEDL suggested that it serves regulatory and/or adaptor functions through multiple protein-protein interactions. Jang et al. (2002) noted that of the 4 known missense mutations responsible for SEDT, 3 map to the protein interior, where the mutations would disrupt the structure, and the fourth maps on a surface at which the mutation might abrogate functional interactions with a partner protein. </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">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>12 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 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</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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|
TRAPPC2, 2-BP DEL, 53TT
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<br />
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SNP: rs587776748,
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|
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ClinVar: RCV000012263
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a family with X-linked spondyloepiphyseal dysplasia tarda (SEDT; 313400), Gedeon et al. (1999) observed a dinucleotide deletion of TT at positions 53 and 54 in exon 3 of the SEDL gene, in a string of 5 thymines. </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 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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|
TRAPPC2, 2-BP DEL, 191TG
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<br />
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|
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SNP: rs587776749,
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|
|
ClinVar: RCV000012264, RCV001851802
|
|
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|
</span>
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|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with X-linked spondyloepiphyseal dysplasia tarda (SEDT; 313400), Gedeon et al. (1999) reported a dinucleotide deletion of TG at positions 191 to 192 in exon 4 of the SEDL gene. Gedeon et al. (2001) found that this was a recurrent mutation. The results of haplotype analyses and the diverse ethnic origins of patients supported recurrence of the mutation. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRAPPC2, 2-BP DEL, 157AT
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|
|
<br />
|
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|
|
SNP: rs587776750,
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|
|
|
|
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|
|
ClinVar: RCV000012265
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with X-linked spondyloepiphyseal dysplasia tarda (SEDT; 313400), Gedeon et al. (1999) identified a deletion of AT at positions 157 and 158 in exon 3 of the SEDL gene. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRAPPC2, 5-BP DEL, NT267
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776751,
|
|
|
|
|
|
|
|
ClinVar: RCV000128610, RCV001268697, RCV002286695
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Whyte et al. (1999) described the clinical and radiographic evaluation of a 6-generation kindred from Arkansas with X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT; 313400). Mumm et al. (2000) investigated this family by mutation analysis. In an affected man and obligate carrier woman, they found a 5-bp deletion (AAGAC) in exon 5 of the sedlin gene. The defect causes a frameshift, resulting in 8 missense amino acids and premature termination. The 5-bp deletion was then demonstrated to segregate with SEDT in the 4 living generations, including 8 affected males and 9 obligate carrier females. Furthermore, the deletion was identified in 4 females who potentially were heterozygous carriers for SEDT. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRAPPC2, 5-BP DEL, NT271
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000128610, RCV001268697, RCV002286695
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Gedeon et al. (2001) stated that the deletion of nucleotides 271-275 was recurrent. The results of haplotype analyses and the diverse ethnic origins of patients with spondyloepiphyseal dysplasia tarda (SEDT; 313400) supported recurrent mutations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRAPPC2, IVS3DS, G-A, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776752,
|
|
|
|
|
|
gnomAD: rs587776752,
|
|
|
|
|
|
ClinVar: RCV000012268, RCV001093294, RCV001807724, RCV002512980
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Tiller et al. (2001) characterized an exon-skipping mutation in 2 unrelated families with spondyloepiphyseal dysplasia tarda (SEDT; 313400): IVS3+5G-A at the intron 3 splice donor site. Using RT-PCR, they demonstrated that the mutation resulted in elimination of the first 31 codons of the open reading frame. RT-PCR experiments using mouse/human cell hybrids revealed that the SEDL gene escapes X inactivation. Homologs of the SEDL gene include a transcribed retropseudogene on chromosome 19, as well as expressed genes in mouse, rat, Drosophila, C. elegans, and S. cerevisiae. The yeast homolog, p20, has a putative role in vesicular transport from ER to Golgi complex. The data suggested that SEDL mutations may perturb an intracellular pathway that is important for cartilage homeostasis. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRAPPC2, PHE83SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894948,
|
|
|
|
|
|
|
|
ClinVar: RCV000012269, RCV002276543
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Grunebaum et al. (2001) identified a 4-generation family with late-onset spondyloepiphyseal dysplasia (SEDT; 313400) caused by a T-to-C substitution at nucleotide 248 in exon 5 of the SEDL gene, resulting in the substitution of a phenylalanine by serine residue at amino acid 83 (p83). The phenotype in this family was mild, and Grunebaum et al. (2001) speculated that this might be due to the presence of a missense rather than a nonsense mutation in this family. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRAPPC2, GLN131TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs122460156,
|
|
|
|
|
|
|
|
ClinVar: RCV000012270
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 14-year-old Japanese boy with late-onset spondyloepiphyseal dysplasia (SEDT; 313400), Takahashi et al. (2002) identified homozygosity for a 391C-T transition in the SEDL gene, resulting in a gln131 (CAG)-to-ter (TAG) (Q131X) substitution. The mother was heterozygous for the mutation. There were 5 affected males in 3 generations connected through carrier females. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRAPPC2, SER110TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894949,
|
|
|
|
|
|
|
|
ClinVar: RCV000012271
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 16-year-old Taiwanese boy with late-onset spondyloepiphyseal dysplasia (SEDT; 313400), the single affected individual in his family, Shi et al. (2002) identified a 329C-A transversion in exon 6 of the SEDL gene, resulting in a TCA (ser) to TAA (ter) change at codon 329 (S329X). The authors stated that 'according to the family history,' 4 male children and an uncle on the maternal side had the clinical features of SEDT. Clinical details were not provided. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRAPPC2, IVS4, T-C, +4
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776753,
|
|
|
|
|
|
|
|
ClinVar: RCV000012272
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian family with 2 brothers affected with spondyloepiphyseal dysplasia tarda (SEDT; 313400) of different degrees of severity and with pubertal delay as an associated finding, Shaw et al. (2003) found a mutation in the rare, noncanonical 5-prime splice site of intron 4 of the SEDL gene: IVS4+4T-C. RT-PCR analysis showed that this mutation caused alternative splicing of exon 5 and, as a consequence, inclusion of exon 4b sequence. This gave rise to an altered, truncated SEDL protein. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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TRAPPC2, 1-BP DEL, 613A
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<br />
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SNP: rs587776754,
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ClinVar: RCV000012273
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</span>
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</div>
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<span class="mim-text-font">
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<p>In an Ashkenazi Jewish family with spondyloepiphyseal dysplasia tarda (SEDT; 313400), Bar-Yosef et al. (2004) identified a deletion of nucleotide A at position 613 (613delA) in exon 6 of the SEDL gene, resulting in truncation at codon 139 of the 140-codon-long protein. The authors noted that the mutation also predicts a val130-to-phe substitution that would likely interfere with proper folding of the protein. Bar-Yosef et al. (2004) stated that this was the first report of an SEDL mutation in a Jewish family. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0012 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA</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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TRAPPC2, 3-BP DEL, AAT
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<br />
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SNP: rs587777330,
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ClinVar: RCV000114971
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Turkish male with features suggestive of spondyloepiphyseal dysplasia tarda (SEDT; 313400) and his unaffected mother, Davis et al. (2014) identified a 3-bp deletion in intron 4 of the TRAPPC2 gene, c.341-(11_9)delAAT, by exome sequencing. RT-PCR analysis of cell lysates from the patient showed 2 aberrantly spliced signals. Sanger sequencing revealed that the c.341-(11_9)delAAT leads to exon 5 skipping. The authors concluded that the mutation disrupts the function of sedlin. </p>
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</span>
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<div>
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</div>
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</div>
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</div>
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<div>
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<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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Bar-Yosef, U., Ohana, E., Hershkovitz, E., Perlmuter, S., Ofir, R., Birk, O. S.
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<strong>X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.</strong>
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Am. J. Med. Genet. 125A: 45-48, 2004.
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[PubMed: 14755465]
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[Full Text: https://doi.org/10.1002/ajmg.a.20435]
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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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Christie, P. T., Curley, A., Nesbit, M. A., Chapman, C., Genet, S., Harper, P. S., Keeling, S. L., Wilkie, A. O. M., Winter, R. M., Thakker, R. V.
|
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<strong>Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.</strong>
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J. Clin. Endocr. Metab. 86: 3233-3236, 2001.
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[PubMed: 11443194]
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[Full Text: https://doi.org/10.1210/jcem.86.7.7688]
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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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Davis, E. E., Savage, J. H., Willer, J. R., Jiang, Y.-H., Angrist, M., Androutsopoulos, A., Katsanis, N.
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<strong>Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.</strong>
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Clin. Genet. 85: 359-364, 2014.
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[PubMed: 23656395]
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[Full Text: https://doi.org/10.1111/cge.12189]
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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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Fiedler, J., Bittner, M., Puhl, W., Brenner, R. E.
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<strong>Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men. (Letter)</strong>
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Clin. Genet. 62: 94-95, 2002.
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[PubMed: 12123495]
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[Full Text: https://doi.org/10.1034/j.1399-0004.2002.620114.x]
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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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Gecz, J., Hillman, M. A., Gedeon, A. K., Cox, T. C., Baker, E., Mulley, J. C.
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<strong>Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.</strong>
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Genomics 69: 242-251, 2000.
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[PubMed: 11031107]
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[Full Text: https://doi.org/10.1006/geno.2000.6326]
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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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Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., Tiller, G. E., Mulley, J. C., Gecz, J.
|
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<strong>Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.</strong>
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Nature Genet. 22: 400-404, 1999.
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[PubMed: 10431248]
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[Full Text: https://doi.org/10.1038/11976]
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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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Gedeon, A. K., Tiller, G. E., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, I. A., Savarirayan, R., Cole, W. G., Rimoin, D. L., Kousseff, B. G., Ohashi, H., Zabel, B., Munnich, A., Gecz, J., Mulley, J. C.
|
|
<strong>The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.</strong>
|
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Am. J. Hum. Genet. 68: 1386-1397, 2001.
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[PubMed: 11349230]
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[Full Text: https://doi.org/10.1086/320592]
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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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Grunebaum, E., Arpaia, E., MacKenzie, J. J., Fitzpatrick, J., Ray, P. N., Roifman, C. M.
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<strong>A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. (Letter)</strong>
|
|
J. Med. Genet. 38: 409-411, 2001.
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[PubMed: 11424925]
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[Full Text: https://doi.org/10.1136/jmg.38.6.409]
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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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Jang, S. B., Kim, Y.-G., Cho, Y.-S., Suh, P.-G., Kim, K.-H., Oh, B.-H.
|
|
<strong>Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda.</strong>
|
|
J. Biol. Chem. 277: 49863-49869, 2002.
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[PubMed: 12361953]
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[Full Text: https://doi.org/10.1074/jbc.M207436200]
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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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Mumm, S., Christie, P. T., Finnegan, P., Jones, J., Dixon, P. H., Pannett, A. A. J., Harding, B., Gottesman, G. S., Thakker, R. V., Whyte, M. P.
|
|
<strong>A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.</strong>
|
|
J. Clin. Endocr. Metab. 85: 3343-3347, 2000.
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[PubMed: 10999831]
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[Full Text: https://doi.org/10.1210/jcem.85.9.6840]
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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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Mumm, S., Zhang, X., Vacca, M., D'Esposito, M., Whyte, M. P.
|
|
<strong>The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site.</strong>
|
|
Gene 273: 285-293, 2001.
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[PubMed: 11595175]
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[Full Text: https://doi.org/10.1016/s0378-1119(01)00571-6]
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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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Scrivens, P. J., Noueihed, B., Shahrzad, N., Hul, S., Brunet, S., Sacher, M.
|
|
<strong>C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking.</strong>
|
|
Molec. Biol. Cell 22: 2083-2093, 2011.
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[PubMed: 21525244]
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[Full Text: https://doi.org/10.1091/mbc.E10-11-0873]
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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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Shaw, M. A., Brunetti-Pierri, N., Kadasi, L., Kovacova, V., Van Maldergem, L., De Brasi, D., Salerno, M., Gecz, J.
|
|
<strong>Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.</strong>
|
|
Clin. Genet. 64: 235-242, 2003.
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|
[PubMed: 12919139]
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[Full Text: https://doi.org/10.1034/j.1399-0004.2003.00132.x]
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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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Shi, Y.-R., Lee, C.-C., Hsu, Y.-A., Wang, C.-H., Tsai, F.-J.
|
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<strong>A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda.</strong>
|
|
Hum. Hered. 54: 54-56, 2002.
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[PubMed: 12446987]
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[Full Text: https://doi.org/10.1159/000066694]
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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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Takahashi, T., Takahashi, I., Tsuchida, S., Oyama, K., Komatsu, M., Saito, H., Takada, G.
|
|
<strong>An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda. (Letter)</strong>
|
|
Clin. Genet. 61: 319-320, 2002. Note: Erratum: Clin. Genet. 64: 375 only, 2003.
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[PubMed: 12030902]
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[Full Text: https://doi.org/10.1034/j.1399-0004.2002.610416.x]
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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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Tiller, G. E., Hannig, V. L., Dozier, D., Carrel, L., Trevarthen, K. C., Wilcox, W. R., Mundlos, S., Haines, J. L., Gedeon, A. K., Gecz, J.
|
|
<strong>A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.</strong>
|
|
Am. J. Hum. Genet. 68: 1398-1407, 2001.
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[PubMed: 11326333]
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[Full Text: https://doi.org/10.1086/320594]
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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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Venditti, R., Scanu, T., Santoro, M., Di Tullio, G., Spaar, A., Gaibisso, R., Beznoussenko, G. V., Mironov, A. A., Mironov, A., Jr., Zelante, L., Piemontese, M. R., Notarangelo, A., Malhotra, V., Vertel, B. M., Wilson, C., De Matteis, M. A.
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<strong>Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.</strong>
|
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Science 337: 1668-1672, 2012.
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[PubMed: 23019651]
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[Full Text: https://doi.org/10.1126/science.1224947]
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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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Whyte, M. P., Gottesman, G. S., Eddy, M. C., McAlister, W. H.
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<strong>X-linked recessive spondyloepiphyseal dysplasia tarda: clinical and radiographic evolution in a 6-generation kindred and review of the literature.</strong>
|
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Medicine 78: 9-25, 1999.
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[PubMed: 9990351]
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[Full Text: https://doi.org/10.1097/00005792-199901000-00002]
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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 class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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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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Ingrid M. Wentzensen - updated : 4/25/2014<br>Ada Hamosh - updated : 10/24/2012<br>Patricia A. Hartz - updated : 7/22/2011<br>Marla J. F. O'Neill - updated : 5/18/2004<br>Victor A. McKusick - updated : 10/16/2003<br>Victor A. McKusick - updated : 3/5/2003<br>Victor A. McKusick - updated : 2/24/2003<br>Victor A. McKusick - updated : 8/21/2002<br>Victor A. McKusick - updated : 8/12/2002<br>Michael J. Wright - updated : 7/26/2002<br>Paul J. Converse - updated : 4/11/2002<br>John A. Phillips, III - updated : 3/5/2002<br>Victor A. McKusick - updated : 6/20/2001<br>John A. Phillips, III - updated : 3/21/2001<br>Ada Hamosh - updated : 1/3/2001
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<span class="mim-text-font">
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Ada Hamosh : 8/4/1999
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