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<title>
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Entry
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- *614138 - TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 11; TRAPPC11
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- OMIM
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<p />
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*614138</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/614138">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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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=ENSG00000168538;t=ENST00000334690" 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=60684" 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=614138" 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=ENSG00000168538;t=ENST00000334690" 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_021942,NM_199053,XM_024454179,XM_024454180,XM_047416069" 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_021942" 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=614138" 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://www.proteinatlas.org/search/TRAPPC11" 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/10434379,10435307,10439991,12053021,30722447,31874155,39995076,39995078,49065532,54887378,119625091,119625092,141796940,189054683,193787085,193788373,205696378,444732949,444732951,1370487431,1370487433,2217351774,2462598608,2462598610,2462598612" 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/Q7Z392" 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=60684" 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=ENSG00000168538;t=ENST00000334690" 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=TRAPPC11" 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=TRAPPC11" 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+60684" 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/TRAPPC11" 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:60684" 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/60684" 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=chr4&hgg_gene=ENST00000334690.11&hgg_start=183659293&hgg_end=183713589&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">
|
|
<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:25751" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614138[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=614138[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://www.deciphergenomics.org/gene/TRAPPC11/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000168538" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=TRAPPC11" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=TRAPPC11" 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=TRAPPC11" 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=TRAPPC11&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/PA162379849" 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:25751" 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/FBgn0286567.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2444585" 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/TRAPPC11#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:2444585" 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/60684/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=60684" 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=WBGene00015173;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-030131-1723" 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">
|
|
<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=TRAPPC11&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> 732929002<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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614138
|
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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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TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 11; TRAPPC11
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CHROMOSOME 4 OPEN READING FRAME 41; C4ORF41
|
|
</span>
|
|
</h4>
|
|
</div>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TRAPPC11" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TRAPPC11</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/4/705?start=-3&limit=10&highlight=705">4q35.1</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:183659293-183713589&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'})">4:183,659,293-183,713,589</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
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|
|
</span>
|
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</p>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
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Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/4/705?start=-3&limit=10&highlight=705">
|
|
4q35.1
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<p>TRAPPC11 is a component of the TRAPP multisubunit tethering complex involved in intracellular vesicle trafficking (<a href="#7" 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>Using tandem affinity purification followed by SDS-PAGE and mass spectrometry to identify proteins that copurified with TRAPPC2 (<a href="/entry/300202">300202</a>) and TRAPPC2L (<a href="/entry/610970">610970</a>) from HEK293 cells, <a href="#7" 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> identified TRAPPC11. TRAPPC11 had an apparent molecular mass of 129 kD by SDS-PAGE. <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><a href="#4" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 7/22/2011."None>Hartz (2011)</a> mapped the TRAPPC11 gene to chromosome 4q35.1 based on an alignment of the TRAPPC11 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AK022778" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AK022778</a>) with the genomic sequence (GRCh37).</p>
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<p><a href="#7" 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> found that depletion of TRAPPC11 in HeLa cells via interfering RNA resulted in partial disassembly of the TRAPP complex. There was also Golgi fragmentation into dispersed punctae and arrested anterograde trafficking, suggesting that TRAPPC11 is involved in an early trafficking event between the endoplasmic reticulum (ER) and Golgi. <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>Using small interfering RNA in HeLa cells, <a href="#3" class="mim-tip-reference" title="DeRossi, C., Vacaru, A., Rafiq, R., Cinaroglu, A., Imrie, D., Nayar, S., Baryshnikova, A., Milev, M. P., Stanga, D., Kadakia, D., Gao, N., Chu, J., Freeze, H. H., Lehrman, M. A., Sacher, M., Sadler, K. C. <strong>trappc11 is required for protein glycosylation in zebrafish and humans.</strong> Molec. Biol. Cell 27: 1220-1234, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26912795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26912795</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26912795[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.E15-08-0557" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26912795">DeRossi et al. (2016)</a> found that knockdown of TRAPPC11, but not other TRAPP subunits, resulted in accumulation of nonglycosylated TRAP-alpha (SSR1; <a href="/entry/600868">600868</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26912795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By whole-exome sequencing combined with linkage analysis of a Syrian family with limb-girdle muscular dystrophy-18 (LGMDR18; <a href="/entry/615356">615356</a>), previously designated LGMD2S, <a href="#1" class="mim-tip-reference" title="Bogershausen, N., Shahrzad, N., Chong, J. X., von Kleist-Retzow, J.-C., Stanga, D., Li, Y., Bernier, F. P., Loucks, C. M., Wirth, R., Puffenberger, E. G., Hegele, R. A., Schreml, J., and 22 others. <strong>Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.</strong> Am. J. Hum. Genet. 93: 181-190, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23830518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23830518</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23830518[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.05.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23830518">Bogershausen et al. (2013)</a> identified a homozygous mutation in the TRAPPC11 gene (G980R; <a href="#0001">614138.0001</a>). The same technique revealed a different homozygous mutation in the TRAPPC11 gene (Ala372_Ser429del; <a href="#0002">614138.0002</a>) in affected members of 2 Hutterite families with a slightly different phenotype. The G980R mutation occurred in the gryzun domain, whereas the deletion occurred in the foie gras domain. The Syrian patients had childhood onset of progressive proximal muscle weakness resulting in impaired ambulation. The shoulder girdle muscles were less severely affected than the hip girdle muscles. Other features included hip dysplasia, scoliosis, and increased serum creatine kinase. Affected individuals from the Hutterite families had early-onset psychomotor delay and evidence of a hyperkinetic movement disorder characterized mainly by choreiform movements of the trunk, limbs, and head, although athetoid movements, tremor, and dystonic posturing were also noted. All had truncal ataxia resulting in gait instability, mild muscle weakness, and increased serum creatine kinase. Patient cells from both groups showed increased fragmentation of the Golgi apparatus and decreased amounts of the mutant proteins. Studies in yeast suggested that the mutant missense protein lost the ability to interact properly with other TRAPP proteins. Patient cells also showed altered protein transport along the secretory pathway, with a delayed exit from the Golgi and a defect in the formation and/or movement of late endosomes/lysosomes. The findings suggested that altered membrane trafficking is the underlying molecular mechanism of this disease spectrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23830518" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an 8-year-old Han Chinese girl with a variant of LGMD2S (LGMDR18), <a href="#6" class="mim-tip-reference" title="Liang, W.-C., Zhu, W., Mitsuhashi, S., Noguchi, S., Sacher, M., Ogawa, M., Shih, H.-H., Jong, Y.-J., Nishino, I. <strong>Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.</strong> Skeletal Muscle 5: 29, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26322222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26322222</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26322222[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13395-015-0056-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26322222">Liang et al. (2015)</a> identified compound heterozygous mutations in the TRAPPC11 gene (<a href="#0001">614138.0001</a> and <a href="#0003">614138.0003</a>). The mutations, which were found by targeted next-generation sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. In addition to muscular dystrophy, the patient had delayed psychomotor development with borderline cognitive function, infantile-onset cataracts, and hepatic steatosis. <a href="#6" class="mim-tip-reference" title="Liang, W.-C., Zhu, W., Mitsuhashi, S., Noguchi, S., Sacher, M., Ogawa, M., Shih, H.-H., Jong, Y.-J., Nishino, I. <strong>Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.</strong> Skeletal Muscle 5: 29, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26322222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26322222</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26322222[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13395-015-0056-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26322222">Liang et al. (2015)</a> noted that the 'foie gras' (foigr) mutant zebrafish shows lipid accumulation in hepatocytes (see ANIMAL MODEL). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26322222" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 patients from 2 unrelated consanguineous Turkish families with a variant of LGMD2S (LGMDR18), <a href="#5" class="mim-tip-reference" title="Koehler, K., Milev, M. P., Prematilake, K., Reschke, F., Kutzner, S., Juhlen, R., Landgraf, D., Utine, E., Hazan, F., Diniz, G., Schuelke, M., Huebner, A., Sacher, M. <strong>A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.</strong> J. Med. Genet. 54: 176-185, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27707803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27707803</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27707803">Koehler et al. (2017)</a> identified a homozygous splice site mutation in the TRAPPC11 gene (<a href="#0004">614138.0004</a>). The mutation was found by a combination of autozygosity mapping and whole-exome sequencing and was confirmed by Sanger sequencing. It segregated with the disorder in both families. Haplotype analysis suggested a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27707803" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with LGMDR18, <a href="#2" class="mim-tip-reference" title="Corona-Rivera, J. R., Martinez-Duncker, I., Morava, E., Ranatunga, W., Salinas-Marin, R., Gonzalez-Jaimes, A. M., Castillo-Reyes, K. A., Pena-Padilla, C., Bobadilla-Morales, L., Corona-Rivera, A., Orozco-Vela, M., Brukman-Jimenez, S. A. <strong>TRAPPC11-CDG muscular dystrophy: review of 54 cases including a novel patient.</strong> Molec. Genet. Metab. 142: 108469, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38564972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38564972</a>] [<a href="https://doi.org/10.1016/j.ymgme.2024.108469" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38564972">Corona-Rivera et al. (2024)</a> identified compound heterozygous mutations in the TRAPPC11 gene (Y251H, <a href="#0005">614138.0005</a>; A353G, <a href="#0006">614138.0006</a>). Analysis of patient fibroblasts demonstrated a slight disruption of Golgi morphology. In patient fibroblasts, expression of ICAM1 (<a href="/entry/147840">147840</a>) and LAMP2 (<a href="/entry/309060">309060</a>) were decreased, and expression of LAMP1 (<a href="/entry/153330">153330</a>) was increased, compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38564972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="DeRossi, C., Vacaru, A., Rafiq, R., Cinaroglu, A., Imrie, D., Nayar, S., Baryshnikova, A., Milev, M. P., Stanga, D., Kadakia, D., Gao, N., Chu, J., Freeze, H. H., Lehrman, M. A., Sacher, M., Sadler, K. C. <strong>trappc11 is required for protein glycosylation in zebrafish and humans.</strong> Molec. Biol. Cell 27: 1220-1234, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26912795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26912795</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26912795[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.E15-08-0557" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26912795">DeRossi et al. (2016)</a> stated that 'foie gras' (foigr) mutant zebrafish exhibit lipid accumulation in hepatocytes and have a viral DNA insertion in the trappc11 gene that results in a C-terminally truncated protein. They found that trappc11 mutant larvae also had a defect in motility. Using Western blot analysis, <a href="#3" class="mim-tip-reference" title="DeRossi, C., Vacaru, A., Rafiq, R., Cinaroglu, A., Imrie, D., Nayar, S., Baryshnikova, A., Milev, M. P., Stanga, D., Kadakia, D., Gao, N., Chu, J., Freeze, H. H., Lehrman, M. A., Sacher, M., Sadler, K. C. <strong>trappc11 is required for protein glycosylation in zebrafish and humans.</strong> Molec. Biol. Cell 27: 1220-1234, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26912795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26912795</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26912795[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.E15-08-0557" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26912795">DeRossi et al. (2016)</a> detected mutant trappc11 at an apparent molecular mass of 56 kD and wildtype trappc11 at 129 kD. Foigr hepatocytes had a significant defect in synthesis of lipid-linked oligosaccharides, blocking protein N-glycosylation and causing protein misfolding, with chronic activation of the unfolded protein response (UPR) in ER. The block in N-glycosylation caused compensatory upregulation of nearly all genes involved in N-glycosylation and chronically stressed UPR-activated genes involved in sterol metabolism. Trappc11 mutant hepatocytes also developed abnormal ER morphology, fragmentation of the Golgi complex, and retention of secretory cargo. <a href="#3" class="mim-tip-reference" title="DeRossi, C., Vacaru, A., Rafiq, R., Cinaroglu, A., Imrie, D., Nayar, S., Baryshnikova, A., Milev, M. P., Stanga, D., Kadakia, D., Gao, N., Chu, J., Freeze, H. H., Lehrman, M. A., Sacher, M., Sadler, K. C. <strong>trappc11 is required for protein glycosylation in zebrafish and humans.</strong> Molec. Biol. Cell 27: 1220-1234, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26912795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26912795</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26912795[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.E15-08-0557" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26912795">DeRossi et al. (2016)</a> proposed that TRAPPC11 may function as a scaffold for enzymes of protein N-glycosylation or as a cofactor for an enzyme in lipid-linked oligosaccharide synthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26912795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a consanguineous Syrian family with autosomal recessive limb-girdle muscular dystrophy type 2S (LGMDR18; <a href="/entry/615356">615356</a>), <a href="#1" class="mim-tip-reference" title="Bogershausen, N., Shahrzad, N., Chong, J. X., von Kleist-Retzow, J.-C., Stanga, D., Li, Y., Bernier, F. P., Loucks, C. M., Wirth, R., Puffenberger, E. G., Hegele, R. A., Schreml, J., and 22 others. <strong>Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.</strong> Am. J. Hum. Genet. 93: 181-190, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23830518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23830518</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23830518[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.05.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23830518">Bogershausen et al. (2013)</a> identified a homozygous c.2938G-A transition in the TRAPPC11 gene, resulting in a gly980-to-arg (G980R) substitution at a highly conserved residue in the gryzun domain. The mutation was found by exome sequencing combined with linkage analysis and confirmed by Sanger sequencing, segregated with the disorder in the family, and was not found in several large control databases or in 100 Turkish controls. Studies of patient cells indicated an intracellular trafficking defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23830518" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an 8-year-old Han Chinese girl with a variant of LGMDR18, <a href="#6" class="mim-tip-reference" title="Liang, W.-C., Zhu, W., Mitsuhashi, S., Noguchi, S., Sacher, M., Ogawa, M., Shih, H.-H., Jong, Y.-J., Nishino, I. <strong>Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.</strong> Skeletal Muscle 5: 29, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26322222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26322222</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26322222[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13395-015-0056-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26322222">Liang et al. (2015)</a> identified compound heterozygous mutations in the TRAPPC11 gene: G980R and a splice site mutation (c.661-1G-T; <a href="#0003">614138.0003</a>). The mutations, which were found by targeted next-generation sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. In addition to muscular dystrophy, the patient had delayed psychomotor development with borderline cognitive function, infantile-onset cataracts, and hepatic steatosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26322222" 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="#3" class="mim-tip-reference" title="DeRossi, C., Vacaru, A., Rafiq, R., Cinaroglu, A., Imrie, D., Nayar, S., Baryshnikova, A., Milev, M. P., Stanga, D., Kadakia, D., Gao, N., Chu, J., Freeze, H. H., Lehrman, M. A., Sacher, M., Sadler, K. C. <strong>trappc11 is required for protein glycosylation in zebrafish and humans.</strong> Molec. Biol. Cell 27: 1220-1234, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26912795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26912795</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26912795[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.E15-08-0557" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26912795">DeRossi et al. (2016)</a> found that patient fibroblasts with the G980R mutation showed abnormal accumulation of lipid droplets. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26912795" 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> rs397509418 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509418;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/rs397509418?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=rs397509418" 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=rs397509418" 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=RCV000054409 OR RCV000414573 OR RCV001254697" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054409, RCV000414573, RCV001254697" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054409...</a>
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<p>In affected members of 2 Hutterite families with myopathy, a hyperkinetic muscle disorder, and global developmental delay (see <a href="/entry/615356">615356</a>), <a href="#1" class="mim-tip-reference" title="Bogershausen, N., Shahrzad, N., Chong, J. X., von Kleist-Retzow, J.-C., Stanga, D., Li, Y., Bernier, F. P., Loucks, C. M., Wirth, R., Puffenberger, E. G., Hegele, R. A., Schreml, J., and 22 others. <strong>Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.</strong> Am. J. Hum. Genet. 93: 181-190, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23830518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23830518</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23830518[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.05.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23830518">Bogershausen et al. (2013)</a> identified a homozygous G-to-A transition in intron 12 of the TRAPPC11 gene (c.1287+5G-A), resulting in a splice site site mutation and the generation of 2 abnormal transcripts that contain a large deletion (Ala372_Ser429del) in the foie gras domain, and a truncated protein, respectively. The mutation, which was found by homozygosity mapping and whole-exome sequencing, segregated with the disorder. The mutation was found at a frequency of 7% in control Hutterite populations. Studies of patient cells indicated an intracellular trafficking defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23830518" 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">rs886041052 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886041052;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=rs886041052" 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=rs886041052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an 8-year-old Han Chinese girl with a variant of limb-girdle muscular dystrophy type 2S (LGMDR18; <a href="/entry/615356">615356</a>), <a href="#6" class="mim-tip-reference" title="Liang, W.-C., Zhu, W., Mitsuhashi, S., Noguchi, S., Sacher, M., Ogawa, M., Shih, H.-H., Jong, Y.-J., Nishino, I. <strong>Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.</strong> Skeletal Muscle 5: 29, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26322222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26322222</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26322222[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13395-015-0056-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26322222">Liang et al. (2015)</a> identified compound heterozygous mutations in the TRAPPC11 gene: a G-to-T transversion in intron 6 (c.661-1G-T, NM_021942.5), resulting in a splice site alteration and the generation of 2 mutant transcripts predicted to result in truncated proteins (Leu240AlafsTer10 and Leu240ValfsTer7), and G980R (<a href="#0001">614138.0001</a>). Patient muscle biopsy showed absence of the normal full-length TRAPPC11 protein. The mutations, which were found by targeted next-generation sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. In addition to muscular dystrophy, the patient had delayed psychomotor development with borderline cognitive function, infantile-onset cataracts, and hepatic steatosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26322222" 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">rs886041053 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886041053;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=rs886041053" 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=rs886041053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 4 patients from 2 unrelated consanguineous Turkish families with a variant of limb-girdle muscular dystrophy type 2S (LGMDR18; <a href="/entry/615356">615356</a>), <a href="#5" class="mim-tip-reference" title="Koehler, K., Milev, M. P., Prematilake, K., Reschke, F., Kutzner, S., Juhlen, R., Landgraf, D., Utine, E., Hazan, F., Diniz, G., Schuelke, M., Huebner, A., Sacher, M. <strong>A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.</strong> J. Med. Genet. 54: 176-185, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27707803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27707803</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27707803">Koehler et al. (2017)</a> identified a homozygous A-to-G transition in intron 18 of the TRAPPC11 gene (c.1893+3A-G, NM_021942.5), resulting in a splicing defect. The mutation was found by a combination of autozygosity mapping and whole-exome sequencing and was confirmed by Sanger sequencing. It segregated with the disorder in both families and was not found in the dbSNP, 1000 Genomes Project, or ExAC databases. Haplotype analysis suggested a founder effect. Analysis of patient cells showed that the mutation resulted in an aberrant out-of-frame transcript (Val588Glyfs16Ter) with only about 20% of the normal transcript compared to controls, and Western blot analysis showed a dramatic decrease in levels of the full-length protein. Patient cells showed hypoglycosylation of LAMP1 (<a href="/entry/153330">153330</a>). In vitro studies of patient fibroblasts showed that delayed exit through the Golgi apparatus of a marker protein, indicating a defect in secretory trafficking. In addition to muscular dystrophy, the patients had global developmental delay, intellectual disability with poor speech, alacrima, and achalasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27707803" 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 Mexican patient with limb-girdle muscular dystrophy type 2S (LGMDR18; 615356), <a href="#2" class="mim-tip-reference" title="Corona-Rivera, J. R., Martinez-Duncker, I., Morava, E., Ranatunga, W., Salinas-Marin, R., Gonzalez-Jaimes, A. M., Castillo-Reyes, K. A., Pena-Padilla, C., Bobadilla-Morales, L., Corona-Rivera, A., Orozco-Vela, M., Brukman-Jimenez, S. A. <strong>TRAPPC11-CDG muscular dystrophy: review of 54 cases including a novel patient.</strong> Molec. Genet. Metab. 142: 108469, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38564972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38564972</a>] [<a href="https://doi.org/10.1016/j.ymgme.2024.108469" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38564972">Corona-Rivera et al. (2024)</a> identified compound heterozygous mutations in the TRAPPC11 gene, a c.751T-C transition, resulting in a tyr251-to-his (Y251H) substitution, and a c.1058C-G transversion, resulting in an ala353-to-gly (A353G; <a href="/entry/614128#0006">614128.0006</a>) substitution. The mutations were identified by next-generation sequencing of a multigene panel. The A353G mutation was present in the gnomAD database in the Latino population at an allele frequency of 0.000131%. Analysis of patient fibroblasts demonstrated a slight disruption of Golgi morphology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38564972" 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> rs200078740 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200078740;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/rs200078740?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=rs200078740" 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=rs200078740" 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=RCV001306714 OR RCV001760365 OR RCV002543171" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001306714, RCV001760365, RCV002543171" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001306714...</a>
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<p>For discussion of the c.1058C-G transversion in the TRAPPC11 gene, resulting in an ala353-to-gly (A353G) substitution, that was identified in compound heterozygous state in a patient with autosomal recessive limb-girdle muscular dystrophy-18 (LGMDR18; <a href="/entry/615356">615356</a>) by <a href="#2" class="mim-tip-reference" title="Corona-Rivera, J. R., Martinez-Duncker, I., Morava, E., Ranatunga, W., Salinas-Marin, R., Gonzalez-Jaimes, A. M., Castillo-Reyes, K. A., Pena-Padilla, C., Bobadilla-Morales, L., Corona-Rivera, A., Orozco-Vela, M., Brukman-Jimenez, S. A. <strong>TRAPPC11-CDG muscular dystrophy: review of 54 cases including a novel patient.</strong> Molec. Genet. Metab. 142: 108469, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38564972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38564972</a>] [<a href="https://doi.org/10.1016/j.ymgme.2024.108469" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38564972">Corona-Rivera et al. (2024)</a>, see <a href="/entry/614128#0005">614128.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38564972" 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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Bogershausen, N., Shahrzad, N., Chong, J. X., von Kleist-Retzow, J.-C., Stanga, D., Li, Y., Bernier, F. P., Loucks, C. M., Wirth, R., Puffenberger, E. G., Hegele, R. A., Schreml, J., and 22 others.
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<strong>Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.</strong>
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Am. J. Hum. Genet. 93: 181-190, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23830518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23830518</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23830518[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=23830518" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2013.05.028" target="_blank">Full Text</a>]
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Corona-Rivera, J. R., Martinez-Duncker, I., Morava, E., Ranatunga, W., Salinas-Marin, R., Gonzalez-Jaimes, A. M., Castillo-Reyes, K. A., Pena-Padilla, C., Bobadilla-Morales, L., Corona-Rivera, A., Orozco-Vela, M., Brukman-Jimenez, S. A.
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<strong>TRAPPC11-CDG muscular dystrophy: review of 54 cases including a novel patient.</strong>
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Molec. Genet. Metab. 142: 108469, 2024.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38564972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38564972</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38564972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2024.108469" target="_blank">Full Text</a>]
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DeRossi, C., Vacaru, A., Rafiq, R., Cinaroglu, A., Imrie, D., Nayar, S., Baryshnikova, A., Milev, M. P., Stanga, D., Kadakia, D., Gao, N., Chu, J., Freeze, H. H., Lehrman, M. A., Sacher, M., Sadler, K. C.
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<strong>trappc11 is required for protein glycosylation in zebrafish and humans.</strong>
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Molec. Biol. Cell 27: 1220-1234, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26912795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26912795</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26912795[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=26912795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Koehler, K., Milev, M. P., Prematilake, K., Reschke, F., Kutzner, S., Juhlen, R., Landgraf, D., Utine, E., Hazan, F., Diniz, G., Schuelke, M., Huebner, A., Sacher, M.
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<strong>A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.</strong>
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J. Med. Genet. 54: 176-185, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27707803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27707803</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27707803" 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/10.1136/jmedgenet-2016-104108" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Liang2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liang, W.-C., Zhu, W., Mitsuhashi, S., Noguchi, S., Sacher, M., Ogawa, M., Shih, H.-H., Jong, Y.-J., Nishino, I.
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<strong>Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.</strong>
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Skeletal Muscle 5: 29, 2015. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26322222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26322222</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26322222[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=26322222" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1186/s13395-015-0056-4" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Scrivens2011" class="mim-anchor"></a>
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<div class="">
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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.
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<strong>C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking.</strong>
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Molec. Biol. Cell 22: 2083-2093, 2011.
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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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<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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Hilary J. Vernon - updated : 07/05/2024
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/04/2016<br>Patricia A. Hartz - updated : 11/03/2016<br>Cassandra L. Kniffin - updated : 8/1/2013
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 8/4/2011
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/05/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 09/25/2018<br>carol : 02/21/2017<br>carol : 11/08/2016<br>ckniffin : 11/04/2016<br>mgross : 11/03/2016<br>mgross : 11/03/2016<br>carol : 08/02/2013<br>ckniffin : 8/1/2013<br>carol : 8/21/2012<br>wwang : 8/4/2011
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<span class="mim-font">
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<strong>*</strong> 614138
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<h3>
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TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 11; TRAPPC11
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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CHROMOSOME 4 OPEN READING FRAME 41; C4ORF41
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TRAPPC11</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 732929002;
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<strong>
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<em>
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Cytogenetic location: 4q35.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 4:183,659,293-183,713,589 </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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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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4q35.1
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<span class="mim-font">
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Muscular dystrophy, limb-girdle, autosomal recessive 18
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<span class="mim-font">
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615356
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>TRAPPC11 is a component of the TRAPP multisubunit tethering complex involved in intracellular vesicle trafficking (Scrivens et al., 2011). </p>
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<div>
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>Using tandem affinity purification followed by SDS-PAGE and mass spectrometry to identify proteins that copurified with TRAPPC2 (300202) and TRAPPC2L (610970) from HEK293 cells, Scrivens et al. (2011) identified TRAPPC11. TRAPPC11 had an apparent molecular mass of 129 kD by SDS-PAGE. </p>
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Hartz (2011) mapped the TRAPPC11 gene to chromosome 4q35.1 based on an alignment of the TRAPPC11 sequence (GenBank AK022778) with the genomic sequence (GRCh37).</p>
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<strong>Gene Function</strong>
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<span class="mim-text-font">
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<p>Scrivens et al. (2011) found that depletion of TRAPPC11 in HeLa cells via interfering RNA resulted in partial disassembly of the TRAPP complex. There was also Golgi fragmentation into dispersed punctae and arrested anterograde trafficking, suggesting that TRAPPC11 is involved in an early trafficking event between the endoplasmic reticulum (ER) and Golgi. </p><p>Using small interfering RNA in HeLa cells, DeRossi et al. (2016) found that knockdown of TRAPPC11, but not other TRAPP subunits, resulted in accumulation of nonglycosylated TRAP-alpha (SSR1; 600868). </p>
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<div>
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<br />
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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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<span class="mim-text-font">
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<p>By whole-exome sequencing combined with linkage analysis of a Syrian family with limb-girdle muscular dystrophy-18 (LGMDR18; 615356), previously designated LGMD2S, Bogershausen et al. (2013) identified a homozygous mutation in the TRAPPC11 gene (G980R; 614138.0001). The same technique revealed a different homozygous mutation in the TRAPPC11 gene (Ala372_Ser429del; 614138.0002) in affected members of 2 Hutterite families with a slightly different phenotype. The G980R mutation occurred in the gryzun domain, whereas the deletion occurred in the foie gras domain. The Syrian patients had childhood onset of progressive proximal muscle weakness resulting in impaired ambulation. The shoulder girdle muscles were less severely affected than the hip girdle muscles. Other features included hip dysplasia, scoliosis, and increased serum creatine kinase. Affected individuals from the Hutterite families had early-onset psychomotor delay and evidence of a hyperkinetic movement disorder characterized mainly by choreiform movements of the trunk, limbs, and head, although athetoid movements, tremor, and dystonic posturing were also noted. All had truncal ataxia resulting in gait instability, mild muscle weakness, and increased serum creatine kinase. Patient cells from both groups showed increased fragmentation of the Golgi apparatus and decreased amounts of the mutant proteins. Studies in yeast suggested that the mutant missense protein lost the ability to interact properly with other TRAPP proteins. Patient cells also showed altered protein transport along the secretory pathway, with a delayed exit from the Golgi and a defect in the formation and/or movement of late endosomes/lysosomes. The findings suggested that altered membrane trafficking is the underlying molecular mechanism of this disease spectrum. </p><p>In an 8-year-old Han Chinese girl with a variant of LGMD2S (LGMDR18), Liang et al. (2015) identified compound heterozygous mutations in the TRAPPC11 gene (614138.0001 and 614138.0003). The mutations, which were found by targeted next-generation sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. In addition to muscular dystrophy, the patient had delayed psychomotor development with borderline cognitive function, infantile-onset cataracts, and hepatic steatosis. Liang et al. (2015) noted that the 'foie gras' (foigr) mutant zebrafish shows lipid accumulation in hepatocytes (see ANIMAL MODEL). </p><p>In 4 patients from 2 unrelated consanguineous Turkish families with a variant of LGMD2S (LGMDR18), Koehler et al. (2017) identified a homozygous splice site mutation in the TRAPPC11 gene (614138.0004). The mutation was found by a combination of autozygosity mapping and whole-exome sequencing and was confirmed by Sanger sequencing. It segregated with the disorder in both families. Haplotype analysis suggested a founder effect. </p><p>In a patient with LGMDR18, Corona-Rivera et al. (2024) identified compound heterozygous mutations in the TRAPPC11 gene (Y251H, 614138.0005; A353G, 614138.0006). Analysis of patient fibroblasts demonstrated a slight disruption of Golgi morphology. In patient fibroblasts, expression of ICAM1 (147840) and LAMP2 (309060) were decreased, and expression of LAMP1 (153330) was increased, compared to controls. </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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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>DeRossi et al. (2016) stated that 'foie gras' (foigr) mutant zebrafish exhibit lipid accumulation in hepatocytes and have a viral DNA insertion in the trappc11 gene that results in a C-terminally truncated protein. They found that trappc11 mutant larvae also had a defect in motility. Using Western blot analysis, DeRossi et al. (2016) detected mutant trappc11 at an apparent molecular mass of 56 kD and wildtype trappc11 at 129 kD. Foigr hepatocytes had a significant defect in synthesis of lipid-linked oligosaccharides, blocking protein N-glycosylation and causing protein misfolding, with chronic activation of the unfolded protein response (UPR) in ER. The block in N-glycosylation caused compensatory upregulation of nearly all genes involved in N-glycosylation and chronically stressed UPR-activated genes involved in sterol metabolism. Trappc11 mutant hepatocytes also developed abnormal ER morphology, fragmentation of the Golgi complex, and retention of secretory cargo. DeRossi et al. (2016) proposed that TRAPPC11 may function as a scaffold for enzymes of protein N-glycosylation or as a cofactor for an enzyme in lipid-linked oligosaccharide synthesis. </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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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18</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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TRAPPC11, GLY980ARG
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<br />
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SNP: rs397509417,
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gnomAD: rs397509417,
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ClinVar: RCV000054408, RCV004798763
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a consanguineous Syrian family with autosomal recessive limb-girdle muscular dystrophy type 2S (LGMDR18; 615356), Bogershausen et al. (2013) identified a homozygous c.2938G-A transition in the TRAPPC11 gene, resulting in a gly980-to-arg (G980R) substitution at a highly conserved residue in the gryzun domain. The mutation was found by exome sequencing combined with linkage analysis and confirmed by Sanger sequencing, segregated with the disorder in the family, and was not found in several large control databases or in 100 Turkish controls. Studies of patient cells indicated an intracellular trafficking defect. </p><p>In an 8-year-old Han Chinese girl with a variant of LGMDR18, Liang et al. (2015) identified compound heterozygous mutations in the TRAPPC11 gene: G980R and a splice site mutation (c.661-1G-T; 614138.0003). The mutations, which were found by targeted next-generation sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. In addition to muscular dystrophy, the patient had delayed psychomotor development with borderline cognitive function, infantile-onset cataracts, and hepatic steatosis. </p><p>DeRossi et al. (2016) found that patient fibroblasts with the G980R mutation showed abnormal accumulation of lipid droplets. </p>
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<strong>.0002 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18</strong>
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TRAPPC11, IVS12DS, G-A, +5
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SNP: rs397509418,
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gnomAD: rs397509418,
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ClinVar: RCV000054409, RCV000414573, RCV001254697
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<p>In affected members of 2 Hutterite families with myopathy, a hyperkinetic muscle disorder, and global developmental delay (see 615356), Bogershausen et al. (2013) identified a homozygous G-to-A transition in intron 12 of the TRAPPC11 gene (c.1287+5G-A), resulting in a splice site site mutation and the generation of 2 abnormal transcripts that contain a large deletion (Ala372_Ser429del) in the foie gras domain, and a truncated protein, respectively. The mutation, which was found by homozygosity mapping and whole-exome sequencing, segregated with the disorder. The mutation was found at a frequency of 7% in control Hutterite populations. Studies of patient cells indicated an intracellular trafficking defect. </p>
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<span class="mim-font">
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<strong>.0003 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18</strong>
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TRAPPC11, IVS6AS, G-T, -1
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SNP: rs886041052,
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ClinVar: RCV000258796
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<p>In an 8-year-old Han Chinese girl with a variant of limb-girdle muscular dystrophy type 2S (LGMDR18; 615356), Liang et al. (2015) identified compound heterozygous mutations in the TRAPPC11 gene: a G-to-T transversion in intron 6 (c.661-1G-T, NM_021942.5), resulting in a splice site alteration and the generation of 2 mutant transcripts predicted to result in truncated proteins (Leu240AlafsTer10 and Leu240ValfsTer7), and G980R (614138.0001). Patient muscle biopsy showed absence of the normal full-length TRAPPC11 protein. The mutations, which were found by targeted next-generation sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. In addition to muscular dystrophy, the patient had delayed psychomotor development with borderline cognitive function, infantile-onset cataracts, and hepatic steatosis. </p>
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<span class="mim-font">
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<strong>.0004 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18</strong>
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TRAPPC11, IVS18DS, A-G, +3
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<br />
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SNP: rs886041053,
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ClinVar: RCV000258806
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<p>In 4 patients from 2 unrelated consanguineous Turkish families with a variant of limb-girdle muscular dystrophy type 2S (LGMDR18; 615356), Koehler et al. (2017) identified a homozygous A-to-G transition in intron 18 of the TRAPPC11 gene (c.1893+3A-G, NM_021942.5), resulting in a splicing defect. The mutation was found by a combination of autozygosity mapping and whole-exome sequencing and was confirmed by Sanger sequencing. It segregated with the disorder in both families and was not found in the dbSNP, 1000 Genomes Project, or ExAC databases. Haplotype analysis suggested a founder effect. Analysis of patient cells showed that the mutation resulted in an aberrant out-of-frame transcript (Val588Glyfs16Ter) with only about 20% of the normal transcript compared to controls, and Western blot analysis showed a dramatic decrease in levels of the full-length protein. Patient cells showed hypoglycosylation of LAMP1 (153330). In vitro studies of patient fibroblasts showed that delayed exit through the Golgi apparatus of a marker protein, indicating a defect in secretory trafficking. In addition to muscular dystrophy, the patients had global developmental delay, intellectual disability with poor speech, alacrima, and achalasia. </p>
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<span class="mim-font">
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<strong>.0005 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18</strong>
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TRAPPC11, TYR251HIS
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ClinVar: RCV002619444
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<p>In a Mexican patient with limb-girdle muscular dystrophy type 2S (LGMDR18; 615356), Corona-Rivera et al. (2024) identified compound heterozygous mutations in the TRAPPC11 gene, a c.751T-C transition, resulting in a tyr251-to-his (Y251H) substitution, and a c.1058C-G transversion, resulting in an ala353-to-gly (A353G; 614128.0006) substitution. The mutations were identified by next-generation sequencing of a multigene panel. The A353G mutation was present in the gnomAD database in the Latino population at an allele frequency of 0.000131%. Analysis of patient fibroblasts demonstrated a slight disruption of Golgi morphology. </p>
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<h4>
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<span class="mim-font">
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<strong>.0006 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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TRAPPC11, ALA353GLY
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<br />
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SNP: rs200078740,
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gnomAD: rs200078740,
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ClinVar: RCV001306714, RCV001760365, RCV002543171
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<span class="mim-text-font">
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<p>For discussion of the c.1058C-G transversion in the TRAPPC11 gene, resulting in an ala353-to-gly (A353G) substitution, that was identified in compound heterozygous state in a patient with autosomal recessive limb-girdle muscular dystrophy-18 (LGMDR18; 615356) by Corona-Rivera et al. (2024), see 614128.0005. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Bogershausen, N., Shahrzad, N., Chong, J. X., von Kleist-Retzow, J.-C., Stanga, D., Li, Y., Bernier, F. P., Loucks, C. M., Wirth, R., Puffenberger, E. G., Hegele, R. A., Schreml, J., and 22 others.
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<strong>Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.</strong>
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Am. J. Hum. Genet. 93: 181-190, 2013.
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[PubMed: 23830518]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.05.028]
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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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Corona-Rivera, J. R., Martinez-Duncker, I., Morava, E., Ranatunga, W., Salinas-Marin, R., Gonzalez-Jaimes, A. M., Castillo-Reyes, K. A., Pena-Padilla, C., Bobadilla-Morales, L., Corona-Rivera, A., Orozco-Vela, M., Brukman-Jimenez, S. A.
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<strong>TRAPPC11-CDG muscular dystrophy: review of 54 cases including a novel patient.</strong>
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Molec. Genet. Metab. 142: 108469, 2024.
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[PubMed: 38564972]
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[Full Text: https://doi.org/10.1016/j.ymgme.2024.108469]
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</li>
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<p class="mim-text-font">
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DeRossi, C., Vacaru, A., Rafiq, R., Cinaroglu, A., Imrie, D., Nayar, S., Baryshnikova, A., Milev, M. P., Stanga, D., Kadakia, D., Gao, N., Chu, J., Freeze, H. H., Lehrman, M. A., Sacher, M., Sadler, K. C.
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<strong>trappc11 is required for protein glycosylation in zebrafish and humans.</strong>
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Molec. Biol. Cell 27: 1220-1234, 2016.
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[PubMed: 26912795]
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[Full Text: https://doi.org/10.1091/mbc.E15-08-0557]
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<p class="mim-text-font">
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 7/22/2011.
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</p>
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Koehler, K., Milev, M. P., Prematilake, K., Reschke, F., Kutzner, S., Juhlen, R., Landgraf, D., Utine, E., Hazan, F., Diniz, G., Schuelke, M., Huebner, A., Sacher, M.
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<strong>A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.</strong>
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J. Med. Genet. 54: 176-185, 2017.
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[PubMed: 27707803]
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[Full Text: https://doi.org/10.1136/jmedgenet-2016-104108]
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<p class="mim-text-font">
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Liang, W.-C., Zhu, W., Mitsuhashi, S., Noguchi, S., Sacher, M., Ogawa, M., Shih, H.-H., Jong, Y.-J., Nishino, I.
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<strong>Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.</strong>
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Skeletal Muscle 5: 29, 2015. Note: Electronic Article.
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[PubMed: 26322222]
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[Full Text: https://doi.org/10.1186/s13395-015-0056-4]
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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.
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<strong>C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking.</strong>
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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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Contributors:
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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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Hilary J. Vernon - updated : 07/05/2024<br>Cassandra L. Kniffin - updated : 11/04/2016<br>Patricia A. Hartz - updated : 11/03/2016<br>Cassandra L. Kniffin - updated : 8/1/2013
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 8/4/2011
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<span class="mim-text-font">
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carol : 07/05/2024<br>carol : 09/25/2018<br>carol : 02/21/2017<br>carol : 11/08/2016<br>ckniffin : 11/04/2016<br>mgross : 11/03/2016<br>mgross : 11/03/2016<br>carol : 08/02/2013<br>ckniffin : 8/1/2013<br>carol : 8/21/2012<br>wwang : 8/4/2011
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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