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<title>
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Entry
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- *606977 - COMPONENT OF OLIGOMERIC GOLGI COMPLEX 6; COG6
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- OMIM
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</nav>
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<div id="mimSearch" class="hidden-print">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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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="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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<div class="form-group">
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<div class="input-group">
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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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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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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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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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<li>
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<a href="/history"> Search History </a>
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</li>
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</ul>
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</div>
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</div>
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<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
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</form>
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<p />
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</div>
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<div id="mimAlertBanner">
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*606977</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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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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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>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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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>
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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>
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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>
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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>
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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/606977">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=ENSG00000133103;t=ENST00000455146" 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=57511" 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=606977" 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=ENSG00000133103;t=ENST00000455146" 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_001145079,NM_020751,NR_026745,XM_011535168" 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_020751" 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=606977" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
|
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</div>
|
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</div>
|
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
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</a>
|
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</span>
|
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</span>
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</div>
|
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=08445&isoform_id=08445_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/COG6" 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/4768831,6382012,30354239,33457344,50949900,119629023,119629024,119629025,182676410,194377472,223468630,332367524,767977922,2462537577" 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/Q9Y2V7" 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=57511" 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=ENSG00000133103;t=ENST00000455146" 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=COG6" 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=COG6" 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+57511" 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/COG6" 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:57511" 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/57511" 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=chr13&hgg_gene=ENST00000455146.8&hgg_start=39655627&hgg_end=39791666&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:18621" 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=606977[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=606977[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000133103" 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=COG6" 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=COG6" 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=COG6" 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=COG6&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/PA38604" 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:18621" 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/FBgn0033401.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:1914792" 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/COG6#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:1914792" 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/57511/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=57511" 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=WBGene00019481;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-909" 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=COG6&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> 1220574003, 773553003<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">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
606977
|
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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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COMPONENT OF OLIGOMERIC GOLGI COMPLEX 6; COG6
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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>
|
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</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
KIAA1134<br />
|
|
COD2, S. CEREVISIAE, HOMOLOG OF; COD2
|
|
</span>
|
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</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>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=COG6" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">COG6</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>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/13/120?start=-3&limit=10&highlight=120">13q14.11</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr13:39655627-39791666&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'})">13:39,655,627-39,791,666</a> </span>
|
|
</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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|
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</span>
|
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</p>
|
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</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>
|
|
Phenotype
|
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|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614576,615328" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/13/120?start=-3&limit=10&highlight=120">
|
|
13q14.11
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Congenital disorder of glycosylation, type IIl
|
|
|
|
</span>
|
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>Multiprotein complexes are key determinants of Golgi apparatus structure and its capacity for intracellular transport and glycoprotein modification. Several complexes have been identified, including the Golgi transport complex (GTC), the LDLC complex, which is involved in glycosylation reactions, and the SEC34 complex, which is involved in vesicular transport. These 3 complexes are identical and have been termed the conserved oligomeric Golgi (COG) complex, which includes COG6 (<a href="#8" class="mim-tip-reference" title="Ungar, D., Oka, T., Brittle, E. E., Vasile, E., Lupashin, V. V., Chatterton, J. E., Heuser, J. E., Krieger, M., Waters, M. G. <strong>Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function.</strong> J. Cell Biol. 157: 405-415, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11980916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11980916</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11980916[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/10.1083/jcb.200202016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11980916">Ungar et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11980916" 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 screening for cDNAs with the potential to encode large proteins expressed in brain, <a href="#3" class="mim-tip-reference" title="Hirosawa, M., Nagase, T., Ishikawa, K., Kikuno, R., Nomura, N., Ohara, O. <strong>Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.</strong> DNA Res. 6: 329-336, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10574461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10574461</a>] [<a href="https://doi.org/10.1093/dnares/6.5.329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10574461">Hirosawa et al. (1999)</a> identified a partial cDNA encoding COG6, which they called KIAA1134. RT-PCR analysis detected weak expression in brain and ovary, with little or no expression in other tissues tested. Within brain, expression was highest in amygdala and cerebellum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10574461" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By database searching for sequences homologous to the yeast complexed with Dor1 (COG8; <a href="/entry/606979">606979</a>) (COD) proteins, <a href="#9" class="mim-tip-reference" title="Whyte, J. R. C., Munro, S. <strong>The Sec34/35 Golgi transport complex is related to the exocyst, defining a family of complexes involved in multiple steps of membrane traffic.</strong> Dev. Cell 1: 527-537, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11703943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11703943</a>] [<a href="https://doi.org/10.1016/s1534-5807(01)00063-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11703943">Whyte and Munro (2001)</a> identified cDNAs encoding COG6, which they called COD2, and other members of the COG complex. The deduced 653-amino acid COG6 protein contains an N-terminal coiled-coil region. Coiled-coil regions are found in all members of the COG complex and may be involved in holding the complex together or in binding other proteins involved in vesicle docking and fusion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11703943" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By SDS-PAGE analysis of bovine brain cytosol, <a href="#8" class="mim-tip-reference" title="Ungar, D., Oka, T., Brittle, E. E., Vasile, E., Lupashin, V. V., Chatterton, J. E., Heuser, J. E., Krieger, M., Waters, M. G. <strong>Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function.</strong> J. Cell Biol. 157: 405-415, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11980916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11980916</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11980916[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/10.1083/jcb.200202016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11980916">Ungar et al. (2002)</a> identified the 8 subunits of the COG complex. Immunofluorescence microscopy demonstrated that COG1 (LDLB; <a href="/entry/606973">606973</a>) colocalizes with COG7 (<a href="/entry/606978">606978</a>), as well as with COG3 (<a href="/entry/606975">606975</a>) and COG5 (<a href="/entry/606821">606821</a>), with a Golgi marker in a perinuclear distribution. Immunoprecipitation analysis showed that all COG subunits interact with COG2 (LDLC; <a href="/entry/606974">606974</a>). <a href="#8" class="mim-tip-reference" title="Ungar, D., Oka, T., Brittle, E. E., Vasile, E., Lupashin, V. V., Chatterton, J. E., Heuser, J. E., Krieger, M., Waters, M. G. <strong>Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function.</strong> J. Cell Biol. 157: 405-415, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11980916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11980916</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11980916[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/10.1083/jcb.200202016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11980916">Ungar et al. (2002)</a> concluded that the COG complex is critical for the structure and function of the Golgi apparatus and can influence intracellular membrane trafficking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11980916" 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 radiation hybrid analysis, <a href="#3" class="mim-tip-reference" title="Hirosawa, M., Nagase, T., Ishikawa, K., Kikuno, R., Nomura, N., Ohara, O. <strong>Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.</strong> DNA Res. 6: 329-336, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10574461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10574461</a>] [<a href="https://doi.org/10.1093/dnares/6.5.329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10574461">Hirosawa et al. (1999)</a> mapped the COG6 gene to chromosome 13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10574461" 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><strong><em>Congenital Disorder of Glycosylation Type IIl</em></strong></p><p>
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In a patient with fatal congenital disorder of glycosylation type IIl (CDG2L; <a href="/entry/614576">614576</a>), <a href="#5" class="mim-tip-reference" title="Lubbehusen, J., Thiel, C., Rind, N., Ungar, D., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M., Korner, C. <strong>Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.</strong> Hum. Molec. Genet. 19: 3623-3633, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20605848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20605848</a>] [<a href="https://doi.org/10.1093/hmg/ddq278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20605848">Lubbehusen et al. (2010)</a> identified a homozygous mutation in the COG6 gene (G549V; <a href="#0001">606977.0001</a>). The patient had intractable seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death at age 5 weeks. Biochemical studies of serum transferrin showed loss of galactose and sialic acid residues, and additional studies showed a combined defect in N- and O-glycosylation. Northern blot analysis showed reduced COG6 mRNA (15% of controls), indicating instability of the mutant transcript. The pathogenicity of the variant identified by <a href="#5" class="mim-tip-reference" title="Lubbehusen, J., Thiel, C., Rind, N., Ungar, D., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M., Korner, C. <strong>Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.</strong> Hum. Molec. Genet. 19: 3623-3633, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20605848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20605848</a>] [<a href="https://doi.org/10.1093/hmg/ddq278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20605848">Lubbehusen et al. (2010)</a> was called into question by <a href="#7" class="mim-tip-reference" title="Shaheen, R., Ansari, S., Alshammari, M. J., Alkhalidi, H., Alrukban, H., Eyaid, W., Alkuraya, F. S. <strong>A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.</strong> J. Med. Genet. 50: 431-436, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23606727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23606727</a>] [<a href="https://doi.org/10.1136/jmedgenet-2013-101527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23606727">Shaheen et al. (2013)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23606727+20605848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Huybrechts, S., De Laet, C., Bontems, P., Rooze, S., Souayah, H., Sznajer, Y., Sturiale, L., Garozzo, D., Matthijs, G., Ferster, A., Jaeken, J., Goyens, P. <strong>Deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG): second patient, different phenotype.</strong> JIMD Rep. 4: 103-108, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23430903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23430903</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23430903[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/10.1007/8904_2011_79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23430903">Huybrechts et al. (2012)</a> found homozygosity for the G549V mutation in the COG6 gene in a 27-month-old girl, born of consanguineous Moroccan parents, with CDG2L. She had severe failure to thrive, combined immunodeficiency with recurrent infections, hepatomegaly with cirrhosis, mild neurodevelopmental delay, microcephaly, and inflammatory bowel disease. <a href="#4" class="mim-tip-reference" title="Huybrechts, S., De Laet, C., Bontems, P., Rooze, S., Souayah, H., Sznajer, Y., Sturiale, L., Garozzo, D., Matthijs, G., Ferster, A., Jaeken, J., Goyens, P. <strong>Deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG): second patient, different phenotype.</strong> JIMD Rep. 4: 103-108, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23430903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23430903</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23430903[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/10.1007/8904_2011_79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23430903">Huybrechts et al. (2012)</a> noted the phenotypic differences from the patient reported by <a href="#5" class="mim-tip-reference" title="Lubbehusen, J., Thiel, C., Rind, N., Ungar, D., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M., Korner, C. <strong>Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.</strong> Hum. Molec. Genet. 19: 3623-3633, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20605848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20605848</a>] [<a href="https://doi.org/10.1093/hmg/ddq278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20605848">Lubbehusen et al. (2010)</a>, and suggested that other factors must modify the disease course. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23430903+20605848" 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 6 patients, including 2 sibs, with CDG2L, <a href="#6" class="mim-tip-reference" title="Rymen, D., Winter, J., Van Hasselt, P. M., Jaeken, J., Kasapkara, C., Gokcay, G., Haijes, H., Goyens, P., Tokatli, A., Thiel, C., Bartsch, O., Hecht, J., Krawitz, P., Prinsen, H. C. M. T., Mildenberger, E., Matthijs, G., Kornak, U. <strong>Key features and clinical variability of COG6-CDG.</strong> Molec. Genet. Metab. 116: 163-170, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26260076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26260076</a>] [<a href="https://doi.org/10.1016/j.ymgme.2015.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26260076">Rymen et al. (2015)</a> identified a homozygous or compound heterozygous mutations in the COG6 gene (see, e.g., <a href="#0001">606977.0001</a>; <a href="#0003">606977.0003</a>-<a href="#0006">606977.0006</a>). The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing and/or by targeted sequencing of CDG gene panels. Functional studies of the variants and studies of patient cells were not performed, but the variants were predicted to result in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26260076" 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><strong><em>Shaheen Syndrome</em></strong></p><p>
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In 12 patients from 3 consanguineous Saudi families with Shaheen syndrome (SHNS; <a href="/entry/615328">615328</a>), <a href="#7" class="mim-tip-reference" title="Shaheen, R., Ansari, S., Alshammari, M. J., Alkhalidi, H., Alrukban, H., Eyaid, W., Alkuraya, F. S. <strong>A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.</strong> J. Med. Genet. 50: 431-436, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23606727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23606727</a>] [<a href="https://doi.org/10.1136/jmedgenet-2013-101527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23606727">Shaheen et al. (2013)</a> identified a homozygous splice site mutation in the COG6 gene (<a href="#0001">606977.0001</a>), resulting in decreased levels of the COG6 and STX6 (<a href="/entry/603944">603944</a>) proteins. The mutation, which was identified by homozygosity mapping and exome sequencing, segregated with the disorder. The patients had mental retardation, hypohidrosis resulting in episodic hyperthermia, enamel hypoplasia with dental caries, and hyperkeratosis of the palms and soles. Immunohistochemical analysis showed that COG6 is expressed in sweat glands, but skin biopsy from a patient showed normal structure and density, suggesting a functional defect. Isoelectric focusing of serum transferrin was repeatedly normal, showing no glycosylation defects. <a href="#7" class="mim-tip-reference" title="Shaheen, R., Ansari, S., Alshammari, M. J., Alkhalidi, H., Alrukban, H., Eyaid, W., Alkuraya, F. S. <strong>A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.</strong> J. Med. Genet. 50: 431-436, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23606727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23606727</a>] [<a href="https://doi.org/10.1136/jmedgenet-2013-101527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23606727">Shaheen et al. (2013)</a> noted the phenotypic differences from the patient reported by <a href="#5" class="mim-tip-reference" title="Lubbehusen, J., Thiel, C., Rind, N., Ungar, D., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M., Korner, C. <strong>Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.</strong> Hum. Molec. Genet. 19: 3623-3633, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20605848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20605848</a>] [<a href="https://doi.org/10.1093/hmg/ddq278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20605848">Lubbehusen et al. (2010)</a> and called into question the pathogenicity of the variant identified in that patient (<a href="#0001">606977.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20605848+23606727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606977[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387906959 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906959;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/rs387906959?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=rs387906959" 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=rs387906959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient, born of unrelated Turkish parents, with fatal congenital disorder of glycosylation type IIl (CDG2L; <a href="/entry/614576">614576</a>), <a href="#5" class="mim-tip-reference" title="Lubbehusen, J., Thiel, C., Rind, N., Ungar, D., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M., Korner, C. <strong>Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.</strong> Hum. Molec. Genet. 19: 3623-3633, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20605848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20605848</a>] [<a href="https://doi.org/10.1093/hmg/ddq278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20605848">Lubbehusen et al. (2010)</a> identified a homozygous 1646G-T transversion in the COG6 gene, resulting in a gly549-to-val (G549V) substitution in a highly conserved residue. The mutation was not found in 100 control alleles. Northern blot analysis showed reduced COG6 mRNA (15% of controls), indicating instability of the mutant transcript. Retroviral gene transfer of wildtype COG6 corrected COG complex defects in patient fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20605848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Huybrechts, S., De Laet, C., Bontems, P., Rooze, S., Souayah, H., Sznajer, Y., Sturiale, L., Garozzo, D., Matthijs, G., Ferster, A., Jaeken, J., Goyens, P. <strong>Deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG): second patient, different phenotype.</strong> JIMD Rep. 4: 103-108, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23430903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23430903</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23430903[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/10.1007/8904_2011_79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23430903">Huybrechts et al. (2012)</a> found homozygosity for the G549V mutation in a 27-month-old girl, born of consanguineous Moroccan parents, with CDG2L. She had severe failure to thrive, combined immunodeficiency with recurrent infections, hepatomegaly with cirrhosis, mild neurodevelopmental delay, microcephaly, and inflammatory bowel disease. <a href="#4" class="mim-tip-reference" title="Huybrechts, S., De Laet, C., Bontems, P., Rooze, S., Souayah, H., Sznajer, Y., Sturiale, L., Garozzo, D., Matthijs, G., Ferster, A., Jaeken, J., Goyens, P. <strong>Deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG): second patient, different phenotype.</strong> JIMD Rep. 4: 103-108, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23430903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23430903</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23430903[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/10.1007/8904_2011_79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23430903">Huybrechts et al. (2012)</a> noted the phenotypic differences from the patient reported by <a href="#5" class="mim-tip-reference" title="Lubbehusen, J., Thiel, C., Rind, N., Ungar, D., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M., Korner, C. <strong>Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.</strong> Hum. Molec. Genet. 19: 3623-3633, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20605848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20605848</a>] [<a href="https://doi.org/10.1093/hmg/ddq278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20605848">Lubbehusen et al. (2010)</a>, and suggested that other factors must modify the disease course. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23430903+20605848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Shaheen, R., Ansari, S., Alshammari, M. J., Alkhalidi, H., Alrukban, H., Eyaid, W., Alkuraya, F. S. <strong>A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.</strong> J. Med. Genet. 50: 431-436, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23606727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23606727</a>] [<a href="https://doi.org/10.1136/jmedgenet-2013-101527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23606727">Shaheen et al. (2013)</a> suggested that the G549V substitution identified by <a href="#5" class="mim-tip-reference" title="Lubbehusen, J., Thiel, C., Rind, N., Ungar, D., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M., Korner, C. <strong>Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.</strong> Hum. Molec. Genet. 19: 3623-3633, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20605848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20605848</a>] [<a href="https://doi.org/10.1093/hmg/ddq278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20605848">Lubbehusen et al. (2010)</a> may not be pathogenic. The G549 residue is not strongly conserved among humans, and overexpression of the mutant protein was not studied in transfection rescue experiments. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20605848+23606727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Haijes, H., Prinsen, H. C. M. T., Thiel, C., Koerner, C., Verhoeven-Duif, N. M., van Hasselt, P. M. <strong>Expanding the clinical phenotype of COG6 deficiency. (Letter)</strong> J. Med. Genet. 51: 425 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24667119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24667119</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24667119">Haijes et al. (2014)</a> maintained that the G549V variant is pathogenic, noting that it was also reported by <a href="#4" class="mim-tip-reference" title="Huybrechts, S., De Laet, C., Bontems, P., Rooze, S., Souayah, H., Sznajer, Y., Sturiale, L., Garozzo, D., Matthijs, G., Ferster, A., Jaeken, J., Goyens, P. <strong>Deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG): second patient, different phenotype.</strong> JIMD Rep. 4: 103-108, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23430903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23430903</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23430903[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/10.1007/8904_2011_79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23430903">Huybrechts et al. (2012)</a> and that <a href="#5" class="mim-tip-reference" title="Lubbehusen, J., Thiel, C., Rind, N., Ungar, D., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M., Korner, C. <strong>Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.</strong> Hum. Molec. Genet. 19: 3623-3633, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20605848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20605848</a>] [<a href="https://doi.org/10.1093/hmg/ddq278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20605848">Lubbehusen et al. (2010)</a> had demonstrated in vitro that decreased amounts of the COG6 protein were caused by instability of the mutant transcript. In a response, <a href="#1" class="mim-tip-reference" title="Alkuraya, F. S., Shaheen, R. <strong>Variable phenotypic expression of COG6 mutation. The Authors' Reply. (Letter)</strong> J. Med. Genet. 51: 425-426, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24667118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24667118</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24667118">Alkuraya and Shaheen (2014)</a> stated that conclusive evidence that the G549V variant is pathogenic remains lacking. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24667118+24667119+23430903+20605848" 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 2 brothers (P4.1 and P4.2) with CDG2L, who were said to be cousins of the patient reported by <a href="#5" class="mim-tip-reference" title="Lubbehusen, J., Thiel, C., Rind, N., Ungar, D., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M., Korner, C. <strong>Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.</strong> Hum. Molec. Genet. 19: 3623-3633, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20605848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20605848</a>] [<a href="https://doi.org/10.1093/hmg/ddq278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20605848">Lubbehusen et al. (2010)</a> and to be born of unrelated Moroccan parents, <a href="#6" class="mim-tip-reference" title="Rymen, D., Winter, J., Van Hasselt, P. M., Jaeken, J., Kasapkara, C., Gokcay, G., Haijes, H., Goyens, P., Tokatli, A., Thiel, C., Bartsch, O., Hecht, J., Krawitz, P., Prinsen, H. C. M. T., Mildenberger, E., Matthijs, G., Kornak, U. <strong>Key features and clinical variability of COG6-CDG.</strong> Molec. Genet. Metab. 116: 163-170, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26260076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26260076</a>] [<a href="https://doi.org/10.1016/j.ymgme.2015.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26260076">Rymen et al. (2015)</a> identified the G549V mutation in compound heterozygous state with another missense mutation (Y262C; <a href="#0005">606977.0005</a>) in the COG6 gene. (In the article by <a href="#6" class="mim-tip-reference" title="Rymen, D., Winter, J., Van Hasselt, P. M., Jaeken, J., Kasapkara, C., Gokcay, G., Haijes, H., Goyens, P., Tokatli, A., Thiel, C., Bartsch, O., Hecht, J., Krawitz, P., Prinsen, H. C. M. T., Mildenberger, E., Matthijs, G., Kornak, U. <strong>Key features and clinical variability of COG6-CDG.</strong> Molec. Genet. Metab. 116: 163-170, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26260076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26260076</a>] [<a href="https://doi.org/10.1016/j.ymgme.2015.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26260076">Rymen et al. (2015)</a>, this mutation is correctly stated as G549V in the text, but incorrectly stated as G594V in Table 1.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26260076+20605848" 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">rs730882236 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730882236;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=rs730882236" 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=rs730882236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 12 patients from 3 consanguineous Saudi families with Shaheen syndrome (SHNS; <a href="/entry/615328">615328</a>), <a href="#7" class="mim-tip-reference" title="Shaheen, R., Ansari, S., Alshammari, M. J., Alkhalidi, H., Alrukban, H., Eyaid, W., Alkuraya, F. S. <strong>A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.</strong> J. Med. Genet. 50: 431-436, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23606727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23606727</a>] [<a href="https://doi.org/10.1136/jmedgenet-2013-101527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23606727">Shaheen et al. (2013)</a> identified a homozygous A-to-G transition in intron 12 of the COG6 gene (c.1167-24A-G), resulting in a splice site alteration. RT-PCR analysis showed a reduced level of the normal transcript, and high levels of an aberrant transcript causing a frameshift and premature termination (Gly390PhefsTer6). Western blot analysis of patient cells showed a 70% reduction in COG6 protein levels and decreased levels of STX6 (<a href="/entry/603944">603944</a>), an interacting protein. The mutation, which was identified by homozygosity mapping and exome sequencing, segregated with the disorder. Isoelectric focusing of serum transferrin was repeatedly normal, showing no glycosylation defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23606727" 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> rs200177031 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200177031;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/rs200177031?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=rs200177031" 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=rs200177031" 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 infant (P1), born of unrelated Bulgarian parents, with congenital disorder of glycosylation type IIl (CDG2L; <a href="/entry/614576">614576</a>) resulting in death at 1 month of age, <a href="#6" class="mim-tip-reference" title="Rymen, D., Winter, J., Van Hasselt, P. M., Jaeken, J., Kasapkara, C., Gokcay, G., Haijes, H., Goyens, P., Tokatli, A., Thiel, C., Bartsch, O., Hecht, J., Krawitz, P., Prinsen, H. C. M. T., Mildenberger, E., Matthijs, G., Kornak, U. <strong>Key features and clinical variability of COG6-CDG.</strong> Molec. Genet. Metab. 116: 163-170, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26260076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26260076</a>] [<a href="https://doi.org/10.1016/j.ymgme.2015.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26260076">Rymen et al. (2015)</a> identified a homozygous c.511C-T transition (c.511C-T, NM_001145079) in exon 5 of the COG6 gene, resulting in an arg171-to-ter (R171X) substitution. The mutation, which was found by whole-exome sequencing and filtered by a panel of CDG genes, was confirmed by Sanger sequencing and segregated with the disorder in the family. An unrelated 12-year-old girl (P6.1) of Turkish descent was compound heterozygous for R171X and an intronic T-to-G transversion (c.1746+2T-G; <a href="#0004">606977.0004</a>), resulting in a splice defect. These mutations were identified by Sanger sequencing of the COG6 gene based on a candidate gene approach. Functional studies of the variants and studies of patient cells were not performed, but the variants were predicted to result in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26260076" 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">rs1555280464 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555280464;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=rs1555280464" 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=rs1555280464" 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=RCV000584831 OR RCV000662023" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000584831, RCV000662023" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000584831...</a>
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<p>In a male infant (P2), born of consanguineous Turkish parents, with congenital disorder of glycosylation type IIl (CDG2L; <a href="/entry/614576">614576</a>), <a href="#6" class="mim-tip-reference" title="Rymen, D., Winter, J., Van Hasselt, P. M., Jaeken, J., Kasapkara, C., Gokcay, G., Haijes, H., Goyens, P., Tokatli, A., Thiel, C., Bartsch, O., Hecht, J., Krawitz, P., Prinsen, H. C. M. T., Mildenberger, E., Matthijs, G., Kornak, U. <strong>Key features and clinical variability of COG6-CDG.</strong> Molec. Genet. Metab. 116: 163-170, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26260076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26260076</a>] [<a href="https://doi.org/10.1016/j.ymgme.2015.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26260076">Rymen et al. (2015)</a> identified a homozygous intronic T-to-G transversion (c.1746+2T-G, NM_001145079) in the COG6 gene, resulting in a splice defect. An unrelated patient (P6.1) of Turkish origin was compound heterozygous for the splice site mutation and R171X (<a href="#0003">606977.0003</a>). Functional studies of the variants and studies of patient cells were not performed, but the variants were predicted to result in a loss of function. (In the article by <a href="#6" class="mim-tip-reference" title="Rymen, D., Winter, J., Van Hasselt, P. M., Jaeken, J., Kasapkara, C., Gokcay, G., Haijes, H., Goyens, P., Tokatli, A., Thiel, C., Bartsch, O., Hecht, J., Krawitz, P., Prinsen, H. C. M. T., Mildenberger, E., Matthijs, G., Kornak, U. <strong>Key features and clinical variability of COG6-CDG.</strong> Molec. Genet. Metab. 116: 163-170, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26260076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26260076</a>] [<a href="https://doi.org/10.1016/j.ymgme.2015.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26260076">Rymen et al. (2015)</a>, this mutation is variably stated as c.1746+2T-G and c.1746+2G-T.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26260076" 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> rs756826030 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs756826030;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/rs756826030?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=rs756826030" 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=rs756826030" 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=RCV000584832" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000584832" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000584832</a>
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<p>In 2 brothers (P4.1 and P4.2), reportedly cousins of the patient described by <a href="#5" class="mim-tip-reference" title="Lubbehusen, J., Thiel, C., Rind, N., Ungar, D., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M., Korner, C. <strong>Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.</strong> Hum. Molec. Genet. 19: 3623-3633, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20605848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20605848</a>] [<a href="https://doi.org/10.1093/hmg/ddq278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20605848">Lubbehusen et al. (2010)</a> and stated to be born of unrelated Moroccan parents, with congenital disorder of glycosylation type IIl (CDG2L; <a href="/entry/614576">614576</a>), <a href="#6" class="mim-tip-reference" title="Rymen, D., Winter, J., Van Hasselt, P. M., Jaeken, J., Kasapkara, C., Gokcay, G., Haijes, H., Goyens, P., Tokatli, A., Thiel, C., Bartsch, O., Hecht, J., Krawitz, P., Prinsen, H. C. M. T., Mildenberger, E., Matthijs, G., Kornak, U. <strong>Key features and clinical variability of COG6-CDG.</strong> Molec. Genet. Metab. 116: 163-170, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26260076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26260076</a>] [<a href="https://doi.org/10.1016/j.ymgme.2015.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26260076">Rymen et al. (2015)</a> identified compound heterozygous mutations in the COG6 gene: a c.785A-G transition (c.785A-G, NM_001145079) in exon 8, resulting in a tyr262-to-cys (Y262C) substitution, and G549R (<a href="#0001">606977.0001</a>). Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26260076+20605848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555277827 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555277827;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=rs1555277827" 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=rs1555277827" 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=RCV000584830" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000584830" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000584830</a>
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<p>In a female infant (P3), born of consanguineous Turkish parents, with congenital disorder of glycosylation type IIl (CDG2L; <a href="/entry/614576">614576</a>), <a href="#6" class="mim-tip-reference" title="Rymen, D., Winter, J., Van Hasselt, P. M., Jaeken, J., Kasapkara, C., Gokcay, G., Haijes, H., Goyens, P., Tokatli, A., Thiel, C., Bartsch, O., Hecht, J., Krawitz, P., Prinsen, H. C. M. T., Mildenberger, E., Matthijs, G., Kornak, U. <strong>Key features and clinical variability of COG6-CDG.</strong> Molec. Genet. Metab. 116: 163-170, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26260076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26260076</a>] [<a href="https://doi.org/10.1016/j.ymgme.2015.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26260076">Rymen et al. (2015)</a> identified a homozygous 1-bp insertion (c.1238_1239insA, NM_001145079) in the COG6 gene, predicted to result in a frameshift and premature termination (Phe414LeufsTer4). Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26260076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Alkuraya, F. S., Shaheen, R.
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<strong>Variable phenotypic expression of COG6 mutation. The Authors' Reply. (Letter)</strong>
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J. Med. Genet. 51: 425-426, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24667118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24667118</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24667118" 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-2014-102388" target="_blank">Full Text</a>]
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Haijes, H., Prinsen, H. C. M. T., Thiel, C., Koerner, C., Verhoeven-Duif, N. M., van Hasselt, P. M.
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<strong>Expanding the clinical phenotype of COG6 deficiency. (Letter)</strong>
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J. Med. Genet. 51: 425 only, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24667119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24667119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24667119" 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-2014-102329" target="_blank">Full Text</a>]
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Hirosawa, M., Nagase, T., Ishikawa, K., Kikuno, R., Nomura, N., Ohara, O.
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<strong>Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.</strong>
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DNA Res. 6: 329-336, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10574461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10574461</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10574461" 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/10.1093/dnares/6.5.329" target="_blank">Full Text</a>]
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<a id="Huybrechts2012" class="mim-anchor"></a>
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Huybrechts, S., De Laet, C., Bontems, P., Rooze, S., Souayah, H., Sznajer, Y., Sturiale, L., Garozzo, D., Matthijs, G., Ferster, A., Jaeken, J., Goyens, P.
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<strong>Deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG): second patient, different phenotype.</strong>
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JIMD Rep. 4: 103-108, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23430903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23430903</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23430903[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=23430903" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/8904_2011_79" target="_blank">Full Text</a>]
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Lubbehusen, J., Thiel, C., Rind, N., Ungar, D., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M., Korner, C.
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<strong>Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.</strong>
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Hum. Molec. Genet. 19: 3623-3633, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20605848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20605848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20605848" 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/10.1093/hmg/ddq278" target="_blank">Full Text</a>]
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Rymen, D., Winter, J., Van Hasselt, P. M., Jaeken, J., Kasapkara, C., Gokcay, G., Haijes, H., Goyens, P., Tokatli, A., Thiel, C., Bartsch, O., Hecht, J., Krawitz, P., Prinsen, H. C. M. T., Mildenberger, E., Matthijs, G., Kornak, U.
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<strong>Key features and clinical variability of COG6-CDG.</strong>
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Molec. Genet. Metab. 116: 163-170, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26260076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26260076</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26260076" 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.2015.07.003" target="_blank">Full Text</a>]
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<a id="Shaheen2013" class="mim-anchor"></a>
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Shaheen, R., Ansari, S., Alshammari, M. J., Alkhalidi, H., Alrukban, H., Eyaid, W., Alkuraya, F. S.
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<strong>A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.</strong>
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J. Med. Genet. 50: 431-436, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23606727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23606727</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23606727" 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-2013-101527" target="_blank">Full Text</a>]
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Ungar, D., Oka, T., Brittle, E. E., Vasile, E., Lupashin, V. V., Chatterton, J. E., Heuser, J. E., Krieger, M., Waters, M. G.
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<strong>Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function.</strong>
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J. Cell Biol. 157: 405-415, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11980916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11980916</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11980916[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=11980916" 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/10.1083/jcb.200202016" target="_blank">Full Text</a>]
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Whyte, J. R. C., Munro, S.
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<strong>The Sec34/35 Golgi transport complex is related to the exocyst, defining a family of complexes involved in multiple steps of membrane traffic.</strong>
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Dev. Cell 1: 527-537, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11703943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11703943</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11703943" 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/s1534-5807(01)00063-6" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 02/20/2018
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Cassandra L. Kniffin - updated : 8/8/2013<br>Cassandra L. Kniffin - updated : 7/23/2013<br>Cassandra L. Kniffin - updated : 4/18/2012
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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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Paul J. Converse : 5/23/2002
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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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 : 03/05/2018
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/23/2018<br>carol : 02/22/2018<br>ckniffin : 02/20/2018<br>carol : 10/18/2016<br>carol : 08/13/2013<br>tpirozzi : 8/13/2013<br>ckniffin : 8/8/2013<br>carol : 7/25/2013<br>ckniffin : 7/23/2013<br>carol : 5/3/2012<br>ckniffin : 4/18/2012<br>mgross : 5/23/2002
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<h3>
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<span class="mim-font">
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<strong>*</strong> 606977
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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COMPONENT OF OLIGOMERIC GOLGI COMPLEX 6; COG6
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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KIAA1134<br />
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COD2, S. CEREVISIAE, HOMOLOG OF; COD2
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</h4>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: COG6</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1220574003, 773553003;
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 13q14.11
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Genomic coordinates <span class="small">(GRCh38)</span> : 13:39,655,627-39,791,666 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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13q14.11
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</span>
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</td>
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<td>
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<span class="mim-font">
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Congenital disorder of glycosylation, type IIl
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</span>
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</td>
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<td>
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<span class="mim-font">
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614576
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</td>
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<td>
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<span class="mim-font">
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3
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<td>
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<span class="mim-font">
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Shaheen syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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615328
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</tbody>
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</table>
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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>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Multiprotein complexes are key determinants of Golgi apparatus structure and its capacity for intracellular transport and glycoprotein modification. Several complexes have been identified, including the Golgi transport complex (GTC), the LDLC complex, which is involved in glycosylation reactions, and the SEC34 complex, which is involved in vesicular transport. These 3 complexes are identical and have been termed the conserved oligomeric Golgi (COG) complex, which includes COG6 (Ungar et al., 2002). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By screening for cDNAs with the potential to encode large proteins expressed in brain, Hirosawa et al. (1999) identified a partial cDNA encoding COG6, which they called KIAA1134. RT-PCR analysis detected weak expression in brain and ovary, with little or no expression in other tissues tested. Within brain, expression was highest in amygdala and cerebellum. </p><p>By database searching for sequences homologous to the yeast complexed with Dor1 (COG8; 606979) (COD) proteins, Whyte and Munro (2001) identified cDNAs encoding COG6, which they called COD2, and other members of the COG complex. The deduced 653-amino acid COG6 protein contains an N-terminal coiled-coil region. Coiled-coil regions are found in all members of the COG complex and may be involved in holding the complex together or in binding other proteins involved in vesicle docking and fusion. </p><p>By SDS-PAGE analysis of bovine brain cytosol, Ungar et al. (2002) identified the 8 subunits of the COG complex. Immunofluorescence microscopy demonstrated that COG1 (LDLB; 606973) colocalizes with COG7 (606978), as well as with COG3 (606975) and COG5 (606821), with a Golgi marker in a perinuclear distribution. Immunoprecipitation analysis showed that all COG subunits interact with COG2 (LDLC; 606974). Ungar et al. (2002) concluded that the COG complex is critical for the structure and function of the Golgi apparatus and can influence intracellular membrane trafficking. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, Hirosawa et al. (1999) mapped the COG6 gene to chromosome 13. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Congenital Disorder of Glycosylation Type IIl</em></strong></p><p>
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In a patient with fatal congenital disorder of glycosylation type IIl (CDG2L; 614576), Lubbehusen et al. (2010) identified a homozygous mutation in the COG6 gene (G549V; 606977.0001). The patient had intractable seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death at age 5 weeks. Biochemical studies of serum transferrin showed loss of galactose and sialic acid residues, and additional studies showed a combined defect in N- and O-glycosylation. Northern blot analysis showed reduced COG6 mRNA (15% of controls), indicating instability of the mutant transcript. The pathogenicity of the variant identified by Lubbehusen et al. (2010) was called into question by Shaheen et al. (2013). </p><p>Huybrechts et al. (2012) found homozygosity for the G549V mutation in the COG6 gene in a 27-month-old girl, born of consanguineous Moroccan parents, with CDG2L. She had severe failure to thrive, combined immunodeficiency with recurrent infections, hepatomegaly with cirrhosis, mild neurodevelopmental delay, microcephaly, and inflammatory bowel disease. Huybrechts et al. (2012) noted the phenotypic differences from the patient reported by Lubbehusen et al. (2010), and suggested that other factors must modify the disease course. </p><p>In 6 patients, including 2 sibs, with CDG2L, Rymen et al. (2015) identified a homozygous or compound heterozygous mutations in the COG6 gene (see, e.g., 606977.0001; 606977.0003-606977.0006). The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing and/or by targeted sequencing of CDG gene panels. Functional studies of the variants and studies of patient cells were not performed, but the variants were predicted to result in a loss of function. </p><p><strong><em>Shaheen Syndrome</em></strong></p><p>
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In 12 patients from 3 consanguineous Saudi families with Shaheen syndrome (SHNS; 615328), Shaheen et al. (2013) identified a homozygous splice site mutation in the COG6 gene (606977.0001), resulting in decreased levels of the COG6 and STX6 (603944) proteins. The mutation, which was identified by homozygosity mapping and exome sequencing, segregated with the disorder. The patients had mental retardation, hypohidrosis resulting in episodic hyperthermia, enamel hypoplasia with dental caries, and hyperkeratosis of the palms and soles. Immunohistochemical analysis showed that COG6 is expressed in sweat glands, but skin biopsy from a patient showed normal structure and density, suggesting a functional defect. Isoelectric focusing of serum transferrin was repeatedly normal, showing no glycosylation defects. Shaheen et al. (2013) noted the phenotypic differences from the patient reported by Lubbehusen et al. (2010) and called into question the pathogenicity of the variant identified in that patient (606977.0001). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl</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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COG6, GLY549VAL
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<br />
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SNP: rs387906959,
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gnomAD: rs387906959,
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ClinVar: RCV000023603, RCV001701483
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient, born of unrelated Turkish parents, with fatal congenital disorder of glycosylation type IIl (CDG2L; 614576), Lubbehusen et al. (2010) identified a homozygous 1646G-T transversion in the COG6 gene, resulting in a gly549-to-val (G549V) substitution in a highly conserved residue. The mutation was not found in 100 control alleles. Northern blot analysis showed reduced COG6 mRNA (15% of controls), indicating instability of the mutant transcript. Retroviral gene transfer of wildtype COG6 corrected COG complex defects in patient fibroblasts. </p><p>Huybrechts et al. (2012) found homozygosity for the G549V mutation in a 27-month-old girl, born of consanguineous Moroccan parents, with CDG2L. She had severe failure to thrive, combined immunodeficiency with recurrent infections, hepatomegaly with cirrhosis, mild neurodevelopmental delay, microcephaly, and inflammatory bowel disease. Huybrechts et al. (2012) noted the phenotypic differences from the patient reported by Lubbehusen et al. (2010), and suggested that other factors must modify the disease course. </p><p>Shaheen et al. (2013) suggested that the G549V substitution identified by Lubbehusen et al. (2010) may not be pathogenic. The G549 residue is not strongly conserved among humans, and overexpression of the mutant protein was not studied in transfection rescue experiments. </p><p>Haijes et al. (2014) maintained that the G549V variant is pathogenic, noting that it was also reported by Huybrechts et al. (2012) and that Lubbehusen et al. (2010) had demonstrated in vitro that decreased amounts of the COG6 protein were caused by instability of the mutant transcript. In a response, Alkuraya and Shaheen (2014) stated that conclusive evidence that the G549V variant is pathogenic remains lacking. </p><p>In 2 brothers (P4.1 and P4.2) with CDG2L, who were said to be cousins of the patient reported by Lubbehusen et al. (2010) and to be born of unrelated Moroccan parents, Rymen et al. (2015) identified the G549V mutation in compound heterozygous state with another missense mutation (Y262C; 606977.0005) in the COG6 gene. (In the article by Rymen et al. (2015), this mutation is correctly stated as G549V in the text, but incorrectly stated as G594V in Table 1.) </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SHAHEEN SYNDROME</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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COG6, IVS12AS, A-G, -24
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<br />
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SNP: rs730882236,
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ClinVar: RCV000050228, RCV000162165, RCV000322754, RCV000985030, RCV001251035
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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 12 patients from 3 consanguineous Saudi families with Shaheen syndrome (SHNS; 615328), Shaheen et al. (2013) identified a homozygous A-to-G transition in intron 12 of the COG6 gene (c.1167-24A-G), resulting in a splice site alteration. RT-PCR analysis showed a reduced level of the normal transcript, and high levels of an aberrant transcript causing a frameshift and premature termination (Gly390PhefsTer6). Western blot analysis of patient cells showed a 70% reduction in COG6 protein levels and decreased levels of STX6 (603944), an interacting protein. The mutation, which was identified by homozygosity mapping and exome sequencing, segregated with the disorder. Isoelectric focusing of serum transferrin was repeatedly normal, showing no glycosylation defects. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl</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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COG6, ARG171TER
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<br />
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SNP: rs200177031,
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gnomAD: rs200177031,
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ClinVar: RCV000584833, RCV001853951, RCV002065124
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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 an infant (P1), born of unrelated Bulgarian parents, with congenital disorder of glycosylation type IIl (CDG2L; 614576) resulting in death at 1 month of age, Rymen et al. (2015) identified a homozygous c.511C-T transition (c.511C-T, NM_001145079) in exon 5 of the COG6 gene, resulting in an arg171-to-ter (R171X) substitution. The mutation, which was found by whole-exome sequencing and filtered by a panel of CDG genes, was confirmed by Sanger sequencing and segregated with the disorder in the family. An unrelated 12-year-old girl (P6.1) of Turkish descent was compound heterozygous for R171X and an intronic T-to-G transversion (c.1746+2T-G; 606977.0004), resulting in a splice defect. These mutations were identified by Sanger sequencing of the COG6 gene based on a candidate gene approach. Functional studies of the variants and studies of patient cells were not performed, but the variants were predicted to result in a loss of function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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COG6, c.1746+2T-G
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<br />
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SNP: rs1555280464,
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ClinVar: RCV000584831, RCV000662023
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</span>
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</div>
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<p>In a male infant (P2), born of consanguineous Turkish parents, with congenital disorder of glycosylation type IIl (CDG2L; 614576), Rymen et al. (2015) identified a homozygous intronic T-to-G transversion (c.1746+2T-G, NM_001145079) in the COG6 gene, resulting in a splice defect. An unrelated patient (P6.1) of Turkish origin was compound heterozygous for the splice site mutation and R171X (606977.0003). Functional studies of the variants and studies of patient cells were not performed, but the variants were predicted to result in a loss of function. (In the article by Rymen et al. (2015), this mutation is variably stated as c.1746+2T-G and c.1746+2G-T.) </p>
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</span>
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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>.0005 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl</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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COG6, TYR262CYS
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<br />
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SNP: rs756826030,
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gnomAD: rs756826030,
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ClinVar: RCV000584832
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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 2 brothers (P4.1 and P4.2), reportedly cousins of the patient described by Lubbehusen et al. (2010) and stated to be born of unrelated Moroccan parents, with congenital disorder of glycosylation type IIl (CDG2L; 614576), Rymen et al. (2015) identified compound heterozygous mutations in the COG6 gene: a c.785A-G transition (c.785A-G, NM_001145079) in exon 8, resulting in a tyr262-to-cys (Y262C) substitution, and G549R (606977.0001). Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function. </p>
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</span>
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</div>
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<div>
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<br />
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl</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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COG6, 1-BP INS, 1238A
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<br />
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SNP: rs1555277827,
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ClinVar: RCV000584830
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a female infant (P3), born of consanguineous Turkish parents, with congenital disorder of glycosylation type IIl (CDG2L; 614576), Rymen et al. (2015) identified a homozygous 1-bp insertion (c.1238_1239insA, NM_001145079) in the COG6 gene, predicted to result in a frameshift and premature termination (Phe414LeufsTer4). Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Alkuraya, F. S., Shaheen, R.
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<strong>Variable phenotypic expression of COG6 mutation. The Authors' Reply. (Letter)</strong>
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J. Med. Genet. 51: 425-426, 2014.
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[PubMed: 24667118]
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[Full Text: https://doi.org/10.1136/jmedgenet-2014-102388]
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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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Haijes, H., Prinsen, H. C. M. T., Thiel, C., Koerner, C., Verhoeven-Duif, N. M., van Hasselt, P. M.
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<strong>Expanding the clinical phenotype of COG6 deficiency. (Letter)</strong>
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J. Med. Genet. 51: 425 only, 2014.
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[PubMed: 24667119]
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[Full Text: https://doi.org/10.1136/jmedgenet-2014-102329]
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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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Hirosawa, M., Nagase, T., Ishikawa, K., Kikuno, R., Nomura, N., Ohara, O.
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<strong>Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.</strong>
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DNA Res. 6: 329-336, 1999.
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[PubMed: 10574461]
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[Full Text: https://doi.org/10.1093/dnares/6.5.329]
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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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Huybrechts, S., De Laet, C., Bontems, P., Rooze, S., Souayah, H., Sznajer, Y., Sturiale, L., Garozzo, D., Matthijs, G., Ferster, A., Jaeken, J., Goyens, P.
|
|
<strong>Deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG): second patient, different phenotype.</strong>
|
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JIMD Rep. 4: 103-108, 2012.
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[PubMed: 23430903]
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[Full Text: https://doi.org/10.1007/8904_2011_79]
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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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Lubbehusen, J., Thiel, C., Rind, N., Ungar, D., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M., Korner, C.
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<strong>Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.</strong>
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Hum. Molec. Genet. 19: 3623-3633, 2010.
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[PubMed: 20605848]
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[Full Text: https://doi.org/10.1093/hmg/ddq278]
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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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Rymen, D., Winter, J., Van Hasselt, P. M., Jaeken, J., Kasapkara, C., Gokcay, G., Haijes, H., Goyens, P., Tokatli, A., Thiel, C., Bartsch, O., Hecht, J., Krawitz, P., Prinsen, H. C. M. T., Mildenberger, E., Matthijs, G., Kornak, U.
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<strong>Key features and clinical variability of COG6-CDG.</strong>
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Molec. Genet. Metab. 116: 163-170, 2015.
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[PubMed: 26260076]
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[Full Text: https://doi.org/10.1016/j.ymgme.2015.07.003]
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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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Shaheen, R., Ansari, S., Alshammari, M. J., Alkhalidi, H., Alrukban, H., Eyaid, W., Alkuraya, F. S.
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<strong>A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.</strong>
|
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J. Med. Genet. 50: 431-436, 2013.
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[PubMed: 23606727]
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[Full Text: https://doi.org/10.1136/jmedgenet-2013-101527]
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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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Ungar, D., Oka, T., Brittle, E. E., Vasile, E., Lupashin, V. V., Chatterton, J. E., Heuser, J. E., Krieger, M., Waters, M. G.
|
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<strong>Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function.</strong>
|
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J. Cell Biol. 157: 405-415, 2002.
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[PubMed: 11980916]
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[Full Text: https://doi.org/10.1083/jcb.200202016]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Whyte, J. R. C., Munro, S.
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<strong>The Sec34/35 Golgi transport complex is related to the exocyst, defining a family of complexes involved in multiple steps of membrane traffic.</strong>
|
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Dev. Cell 1: 527-537, 2001.
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[PubMed: 11703943]
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[Full Text: https://doi.org/10.1016/s1534-5807(01)00063-6]
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</p>
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</li>
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</ol>
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<div>
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<br />
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 02/20/2018<br>Cassandra L. Kniffin - updated : 8/8/2013<br>Cassandra L. Kniffin - updated : 7/23/2013<br>Cassandra L. Kniffin - updated : 4/18/2012
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<span class="mim-text-font">
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Paul J. Converse : 5/23/2002
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carol : 03/05/2018<br>carol : 02/23/2018<br>carol : 02/22/2018<br>ckniffin : 02/20/2018<br>carol : 10/18/2016<br>carol : 08/13/2013<br>tpirozzi : 8/13/2013<br>ckniffin : 8/8/2013<br>carol : 7/25/2013<br>ckniffin : 7/23/2013<br>carol : 5/3/2012<br>ckniffin : 4/18/2012<br>mgross : 5/23/2002
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