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<title>
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Entry
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- *607837 - CLN8 TRANSMEMBRANE ER AND ERGIC PROTEIN; CLN8
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- OMIM
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</li>
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</ul>
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</div>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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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="mimSearchStart" name="start" value="1" />
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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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<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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</div>
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<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
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<span class="small">
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</form>
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<p />
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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">*607837</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="#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="#geneFunction">Gene Function</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" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</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/607837">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>
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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=ENSG00000182372;t=ENST00000331222" 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=2055" 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=607837" 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=ENSG00000182372;t=ENST00000331222" 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_018941,XM_005266021,XM_005266022,XM_005266023,XM_011534745,XM_011534746,XM_011534747,XM_047421512,XM_047421513" 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_018941" 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=607837" 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=06383&isoform_id=06383_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/CLN8" 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/6467261,6467263,6467265,6467267,6467269,14043472,21756297,30582937,31083053,63089556,119571862,119571863,119571864,145559455,223460556,530387326,530387328,530387330,767950137,767950139,767950141,2217371216,2217371219,2462493671,2462493673,2462493675,2462493677,2462493679,2462493681,2462493683,2462493685" 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/Q9UBY8" 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=2055" 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=ENSG00000182372;t=ENST00000331222" 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=CLN8" 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=CLN8" 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+2055" 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/CLN8" 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:2055" 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/2055" 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=chr8&hgg_gene=ENST00000331222.6&hgg_start=1753059&hgg_end=1786570&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2079" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2079" 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://medlineplus.gov/genetics/gene/cln8" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607837[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=607837[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/CLN8/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000182372" 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=CLN8" 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=CLN8" 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=CLN8" 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="http://www.ucl.ac.uk/ncl/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CLN8&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/PA26606" 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:2079" 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://www.mousephenotype.org/data/genes/MGI:1349447" 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/CLN8#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:1349447" 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/2055/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA001506/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2055" 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://zfin.org/ZDB-GENE-060906-3" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=CLN8&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> 703526007<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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607837
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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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CLN8 TRANSMEMBRANE ER AND ERGIC PROTEIN; CLN8
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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CLN8 GENE
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CLN8" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CLN8</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/8/9?start=-3&limit=10&highlight=9">8p23.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr8:1753059-1786570&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'})">8:1,753,059-1,786,570</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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Ceroid lipofuscinosis, neuronal, 8
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Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p><a href="#8" class="mim-tip-reference" title="Ranta, S., Zhang, Y., Ross, B., Lonka, L., Takkunen, E., Messer, A., Sharp, J., Wheeler, R., Kusumi, K., Mole, S., Liu, W., Soares, M. B., de Fatima Bonaldo, M., Hirvasniemi, A., de la Chapelle, A., Gilliam, T. C., Lehesjoki, A.-E. <strong>The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.</strong> Nature Genet. 23: 233-236, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508524</a>] [<a href="https://doi.org/10.1038/13868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10508524">Ranta et al. (1999)</a> reported the positional cloning of a novel gene, CLN8, in the critical region of chromosome 8p for progressive epilepsy with mental retardation (EPMR; <a href="/entry/610003">610003</a>), or Northern epilepsy. The CLN8 gene encodes a deduced 286-amino acid transmembrane protein with a molecular mass of 80 kD. <a href="#8" class="mim-tip-reference" title="Ranta, S., Zhang, Y., Ross, B., Lonka, L., Takkunen, E., Messer, A., Sharp, J., Wheeler, R., Kusumi, K., Mole, S., Liu, W., Soares, M. B., de Fatima Bonaldo, M., Hirvasniemi, A., de la Chapelle, A., Gilliam, T. C., Lehesjoki, A.-E. <strong>The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.</strong> Nature Genet. 23: 233-236, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508524</a>] [<a href="https://doi.org/10.1038/13868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10508524">Ranta et al. (1999)</a> also cloned mouse Cln8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10508524" 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>To determine the intracellular localization of CLN8, <a href="#5" class="mim-tip-reference" title="Lonka, L., Kyttala, A., Ranta, S., Jalanko, A., Lehesjoki, A.-E. <strong>The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.</strong> Hum. Molec. Genet. 9: 1691-1697, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861296</a>] [<a href="https://doi.org/10.1093/hmg/9.11.1691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10861296">Lonka et al. (2000)</a> transiently transfected BHK cell lines with CLN8 cDNA. Using CLN8- and cell organelle-specific antibodies with confocal immunofluorescence microscopy, they showed that the CLN8 protein localizes primarily in the ER, with partial localization in the ER-Golgi intermediate compartment (ERGIC). The ER-ERGIC localization was not altered in the CLN8 protein containing a human CLN8 mutation (<a href="/entry/600143#0001">600143.0001</a>). However, the truncated murine mnd mutant protein was found only in the ER. Mutations in the ER retrieval signal KKRP resulted in localization of CLN8 to the Golgi apparatus. The authors concluded that CLN8 is an ER resident protein that recycles between ER and ERGIC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10861296" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Ranta, S., Zhang, Y., Ross, B., Lonka, L., Takkunen, E., Messer, A., Sharp, J., Wheeler, R., Kusumi, K., Mole, S., Liu, W., Soares, M. B., de Fatima Bonaldo, M., Hirvasniemi, A., de la Chapelle, A., Gilliam, T. C., Lehesjoki, A.-E. <strong>The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.</strong> Nature Genet. 23: 233-236, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508524</a>] [<a href="https://doi.org/10.1038/13868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10508524">Ranta et al. (1999)</a> identified the CLN8 gene within the critical region of chromosome 8p for neuronal ceroid lipofuscinosis-8 (CLN8; <a href="/entry/600143">600143</a>). <a href="#9" class="mim-tip-reference" title="Ranta, S. <strong>Personal Communication.</strong> Helsinki, Finland 10/1/1999."None>Ranta (1999)</a> stated that the Cln8 gene is located in the centromeric region of mouse chromosome 8p, between markers D8Mit124 and D8Mit61. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10508524" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using bimolecular fluorescence complementation (BiFC), <a href="#1" class="mim-tip-reference" title="Bajaj, L., Sharma, J., di Ronza, A., Zhang, P., Eblimit, A., Pal, R., Roman, D., Collette, J. R., Booth, C., Chang, K. T., Sifers, R. N., Jung, S. Y., Weimer, J. M., Chen, R., Schekman, R. W., Sardiello, M. <strong>A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.</strong> J. Clin. Invest. 130: 4118-4132, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32597833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32597833</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32597833[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/10.1172/JCI130955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32597833">Bajaj et al. (2020)</a> demonstrated that Cln8 interacted with Cln6 (<a href="/entry/606725">606725</a>) in the ER. Cln8 is localized to the ER and the ER-Golgi intermediate compartment, and Cln8 trafficking to the Golgi was found to be uncoupled from its interaction with Cln6. Cln8 and Cln6 were mutually necessary for their interaction with lysosomal enzymes. Cln8 and Cln6 functioned as obligate partners in the recruitment of newly synthesized lysosomal enzymes in the ER, but the subsequent transfer of enzymes to the Golgi was mediated by Cln8 only. Analysis with Cln6 and Cln8 single- or double-knockout mice indicated that Cln6 and Cln8 worked as a functional unit in vivo, as loss of Cln6 did not aggravate pathology of Cln8-deficient mice and vice vera. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32597833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Ranta, S., Zhang, Y., Ross, B., Lonka, L., Takkunen, E., Messer, A., Sharp, J., Wheeler, R., Kusumi, K., Mole, S., Liu, W., Soares, M. B., de Fatima Bonaldo, M., Hirvasniemi, A., de la Chapelle, A., Gilliam, T. C., Lehesjoki, A.-E. <strong>The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.</strong> Nature Genet. 23: 233-236, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508524</a>] [<a href="https://doi.org/10.1038/13868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10508524">Ranta et al. (1999)</a> found that 22 Finnish patients with the Northern epilepsy variant of CLN8, were homozygous for an arg24-to-gly mutation in the CLN8 gene (<a href="#0001">607837.0001</a>). The findings indicated a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10508524" 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 9 of 18 families with the so-called Turkish variant of late infantile CLN, <a href="#7" class="mim-tip-reference" title="Ranta, S., Topcu, M., Tegelberg, S., Tan, H., Ustubutun, A., Saatci, I., Dufke, A., Enders, H., Pohl, K., Alembik, Y., Mitchell, W. A., Mole, S. E., Lehesjoki, A.-E. <strong>Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.</strong> Hum. Mutat. 23: 300-305, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024724</a>] [<a href="https://doi.org/10.1002/humu.20018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15024724">Ranta et al. (2004)</a> identified 4 mutations in the CLN8 gene (see <a href="#0002">607837.0002</a>-<a href="#0004">607837.0004</a>), indicating that these patients in fact had CLN8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15024724" 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 3 unrelated Italian patients with CLN8, <a href="#3" class="mim-tip-reference" title="Cannelli, N., Cassandrini, D., Bertini, E., Striano, P., Fusco, L., Gaggero, R., Specchio, N., Biancheri, R., Vigevano, F., Bruno, C., Simonati, A., Zara, F., Santorelli, F. M. <strong>Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean.</strong> Neurogenetics 7: 111-117, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16570191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16570191</a>] [<a href="https://doi.org/10.1007/s10048-005-0024-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16570191">Cannelli et al. (2006)</a> identified homozygous or compound heterozygous mutations in the CLN8 gene (see, e.g., <a href="#0005">607837.0005</a> and <a href="#0006">607837.0006</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16570191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Ranta, S., Zhang, Y., Ross, B., Lonka, L., Takkunen, E., Messer, A., Sharp, J., Wheeler, R., Kusumi, K., Mole, S., Liu, W., Soares, M. B., de Fatima Bonaldo, M., Hirvasniemi, A., de la Chapelle, A., Gilliam, T. C., Lehesjoki, A.-E. <strong>The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.</strong> Nature Genet. 23: 233-236, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508524</a>] [<a href="https://doi.org/10.1038/13868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10508524">Ranta et al. (1999)</a> found conservation of the codon harboring the human CLN8 mutation with the localization of a mutation in the 'motor neuron degeneration' (mnd) mouse, a naturally occurring mouse NCL (<a href="#2" class="mim-tip-reference" title="Bronson, R. T., Lake, B. D., Cook, S., Taylor, S., Davisson, M. T. <strong>Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease).</strong> Ann. Neurol. 33: 381-385, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7683855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7683855</a>] [<a href="https://doi.org/10.1002/ana.410330408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7683855">Bronson et al., 1993</a>). In mnd/mnd mice, they identified a homozygous 1-bp insertion (267-268insC at codon 90) predicting a frameshift and a truncated protein. This was the first description of the molecular basis of a naturally occurring animal model for NCL. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7683855+10508524" 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="Katz, M. L., Khan, S., Awano, T., Shahid, S. A., Siakotos, A. N., Johnson, G. S. <strong>A mutation in the CLN8 gene in English setter dogs with neuronal ceroid-lipofuscinosis.</strong> Biochem. Biophys. Res. Commun. 327: 541-547, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15629147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15629147</a>] [<a href="https://doi.org/10.1016/j.bbrc.2004.12.038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15629147">Katz et al. (2005)</a> identified a leu164-to-pro (L164P) mutation in the Cln8 gene in English setter dogs with autosomal recessive NCL. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15629147" 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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<strong>7 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607837[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 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT</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> rs104894064 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894064;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/rs104894064?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=rs104894064" 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=rs104894064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 22 Finnish patients with the Northern epilepsy variant of CLN8 (<a href="/entry/610003">610003</a>), <a href="#8" class="mim-tip-reference" title="Ranta, S., Zhang, Y., Ross, B., Lonka, L., Takkunen, E., Messer, A., Sharp, J., Wheeler, R., Kusumi, K., Mole, S., Liu, W., Soares, M. B., de Fatima Bonaldo, M., Hirvasniemi, A., de la Chapelle, A., Gilliam, T. C., Lehesjoki, A.-E. <strong>The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.</strong> Nature Genet. 23: 233-236, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508524</a>] [<a href="https://doi.org/10.1038/13868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10508524">Ranta et al. (1999)</a> found homozygosity for an arg24-to-gly (R24G) missense mutation which resulted from a C-to-G transversion at nucleotide 70. The carrier frequency was 1 in 135, consistent with a founder mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10508524" 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">rs28940569 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940569;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=rs28940569" 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=rs28940569" 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=RCV000002937 OR RCV001090293 OR RCV001851598" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002937, RCV001090293, RCV001851598" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002937...</a>
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<p>In affected members of 3 families with the so-called Turkish variant of late infantile CLN, originally reported by <a href="#10" class="mim-tip-reference" title="Topcu, M., Tan, H., Yalnizoglu, D., Usubutun, A., Saatci, I., Aynaci, M., Anlar, B., Topaloglu, H., Turanli, G., Kose, G., Aysun, S. <strong>Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.</strong> Turk. J. Pediat. 46: 1-10, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15074367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15074367</a>]" pmid="15074367">Topcu et al. (2004)</a>, <a href="#7" class="mim-tip-reference" title="Ranta, S., Topcu, M., Tegelberg, S., Tan, H., Ustubutun, A., Saatci, I., Dufke, A., Enders, H., Pohl, K., Alembik, Y., Mitchell, W. A., Mole, S. E., Lehesjoki, A.-E. <strong>Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.</strong> Hum. Mutat. 23: 300-305, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024724</a>] [<a href="https://doi.org/10.1002/humu.20018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15024724">Ranta et al. (2004)</a> identified homozygosity for a 789G-C transversion in exon 3 of the CLN8 gene, resulting in a trp263-to-cys (W263C) mutation. The findings indicated that these patients in fact had CLN8 (<a href="/entry/600143">600143</a>). In affected members of another Turkish family reported by <a href="#10" class="mim-tip-reference" title="Topcu, M., Tan, H., Yalnizoglu, D., Usubutun, A., Saatci, I., Aynaci, M., Anlar, B., Topaloglu, H., Turanli, G., Kose, G., Aysun, S. <strong>Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.</strong> Turk. J. Pediat. 46: 1-10, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15074367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15074367</a>]" pmid="15074367">Topcu et al. (2004)</a>, <a href="#7" class="mim-tip-reference" title="Ranta, S., Topcu, M., Tegelberg, S., Tan, H., Ustubutun, A., Saatci, I., Dufke, A., Enders, H., Pohl, K., Alembik, Y., Mitchell, W. A., Mole, S. E., Lehesjoki, A.-E. <strong>Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.</strong> Hum. Mutat. 23: 300-305, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024724</a>] [<a href="https://doi.org/10.1002/humu.20018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15024724">Ranta et al. (2004)</a> found compound heterozygosity for W263C and R204C (<a href="#0003">607837.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15074367+15024724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 CEROID LIPOFUSCINOSIS, NEURONAL, 8</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> rs104894060 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894060;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/rs104894060?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=rs104894060" 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=rs104894060" 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=RCV000002938 OR RCV000763180 OR RCV000805014 OR RCV002225256 OR RCV002291264" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002938, RCV000763180, RCV000805014, RCV002225256, RCV002291264" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002938...</a>
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<p>In affected members of 5 families with the so-called Turkish variant of late infantile CLN, originally reported by <a href="#6" class="mim-tip-reference" title="Mitchell, W. A., Wheeler, R. B., Sharp, J. D., Bate, S. L., Gardiner, R. M., Ranta, U. S., Lonka, L., Williams, R. E., Lehesjoki, A.-E., Mole, S. E. <strong>Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.</strong> Europ. J. Paediat. Neurol. 5 (suppl. A): 21-27, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11589000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11589000</a>] [<a href="https://doi.org/10.1053/ejpn.2000.0429" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11589000">Mitchell et al. (2001)</a> and <a href="#10" class="mim-tip-reference" title="Topcu, M., Tan, H., Yalnizoglu, D., Usubutun, A., Saatci, I., Aynaci, M., Anlar, B., Topaloglu, H., Turanli, G., Kose, G., Aysun, S. <strong>Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.</strong> Turk. J. Pediat. 46: 1-10, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15074367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15074367</a>]" pmid="15074367">Topcu et al. (2004)</a>, <a href="#7" class="mim-tip-reference" title="Ranta, S., Topcu, M., Tegelberg, S., Tan, H., Ustubutun, A., Saatci, I., Dufke, A., Enders, H., Pohl, K., Alembik, Y., Mitchell, W. A., Mole, S. E., Lehesjoki, A.-E. <strong>Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.</strong> Hum. Mutat. 23: 300-305, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024724</a>] [<a href="https://doi.org/10.1002/humu.20018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15024724">Ranta et al. (2004)</a> identified a homozygous 610C-T transition in exon 3 of the CLN8 gene, resulting in an arg204-to-cys (R204C) mutation. The findings indicated that these patients in fact had CLN8 (<a href="/entry/600143">600143</a>). In affected members of another Turkish family reported by <a href="#10" class="mim-tip-reference" title="Topcu, M., Tan, H., Yalnizoglu, D., Usubutun, A., Saatci, I., Aynaci, M., Anlar, B., Topaloglu, H., Turanli, G., Kose, G., Aysun, S. <strong>Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.</strong> Turk. J. Pediat. 46: 1-10, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15074367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15074367</a>]" pmid="15074367">Topcu et al. (2004)</a>, <a href="#7" class="mim-tip-reference" title="Ranta, S., Topcu, M., Tegelberg, S., Tan, H., Ustubutun, A., Saatci, I., Dufke, A., Enders, H., Pohl, K., Alembik, Y., Mitchell, W. A., Mole, S. E., Lehesjoki, A.-E. <strong>Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.</strong> Hum. Mutat. 23: 300-305, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024724</a>] [<a href="https://doi.org/10.1002/humu.20018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15024724">Ranta et al. (2004)</a> found compound heterozygosity for R204C and W263C (<a href="#0002">607837.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15074367+11589000+15024724" 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> rs386834139 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386834139;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/rs386834139?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=rs386834139" 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=rs386834139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a family with the so-called Turkish variant of late-infantile CLN, originally reported by <a href="#6" class="mim-tip-reference" title="Mitchell, W. A., Wheeler, R. B., Sharp, J. D., Bate, S. L., Gardiner, R. M., Ranta, U. S., Lonka, L., Williams, R. E., Lehesjoki, A.-E., Mole, S. E. <strong>Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.</strong> Europ. J. Paediat. Neurol. 5 (suppl. A): 21-27, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11589000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11589000</a>] [<a href="https://doi.org/10.1053/ejpn.2000.0429" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11589000">Mitchell et al. (2001)</a>, <a href="#7" class="mim-tip-reference" title="Ranta, S., Topcu, M., Tegelberg, S., Tan, H., Ustubutun, A., Saatci, I., Dufke, A., Enders, H., Pohl, K., Alembik, Y., Mitchell, W. A., Mole, S. E., Lehesjoki, A.-E. <strong>Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.</strong> Hum. Mutat. 23: 300-305, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024724</a>] [<a href="https://doi.org/10.1002/humu.20018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15024724">Ranta et al. (2004)</a> identified a homozygous 1-bp deletion (88delG) in the CLN8 gene, resulting in a frameshift and premature termination of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11589000+15024724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In an Italian child with CLN8 (<a href="/entry/600143">600143</a>), born of consanguineous parents, <a href="#3" class="mim-tip-reference" title="Cannelli, N., Cassandrini, D., Bertini, E., Striano, P., Fusco, L., Gaggero, R., Specchio, N., Biancheri, R., Vigevano, F., Bruno, C., Simonati, A., Zara, F., Santorelli, F. M. <strong>Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean.</strong> Neurogenetics 7: 111-117, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16570191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16570191</a>] [<a href="https://doi.org/10.1007/s10048-005-0024-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16570191">Cannelli et al. (2006)</a> identified a homozygous 88G-C transversion in exon 2 of the CLN8 gene, resulting in an ala30-to-pro (A30P) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16570191" 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> rs34238807 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34238807;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/rs34238807?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=rs34238807" 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=rs34238807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 unrelated Italian children with CLN8 (<a href="/entry/600143">600143</a>), <a href="#3" class="mim-tip-reference" title="Cannelli, N., Cassandrini, D., Bertini, E., Striano, P., Fusco, L., Gaggero, R., Specchio, N., Biancheri, R., Vigevano, F., Bruno, C., Simonati, A., Zara, F., Santorelli, F. M. <strong>Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean.</strong> Neurogenetics 7: 111-117, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16570191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16570191</a>] [<a href="https://doi.org/10.1007/s10048-005-0024-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16570191">Cannelli et al. (2006)</a> identified compound heterozygosity for 2 mutations in the CLN8 gene: a shared 1-bp deletion (66delG) and a different pathogenic missense mutation in each child. Haplotype analysis of the 66delG mutation suggested a common ancestor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16570191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In an Italian boy with CLN8 (<a href="/entry/600143">600143</a>), <a href="#11" class="mim-tip-reference" title="Vantaggiato, C., Redaelli, F., Falcone, S., Perrotta, C, Tonelli, A., Bondioni, S., Morbin, M., Riva, D., Saletti, V., Bonaglia, M. C., Giorda, R., Bresolin, N., Clementi, E., Bassi, M. T. <strong>A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.</strong> Hum. Mutat. 30: 1104-1116, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19431184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19431184</a>] [<a href="https://doi.org/10.1002/humu.21012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19431184">Vantaggiato et al. (2009)</a> identified a homozygous 3-bp deletion (180delGAA) in exon 2 of the CLN8 gene, resulting in the deletion of residue lys61. Further studies showed that the patient had complete isodisomy of maternal chromosome 8. In vitro studies in human neuroblastoma cells and mouse neuronal cells showed that the mutation did not affect protein localization neuronal differentiation, or cellular migration, but did result in increased cellular proliferation that was specific to neuronal cells. Cells with the 180delGAA mutation also showed an increased apoptotic response to NMDA. The findings suggested an indirect role for CLN8 in cell survival. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19431184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Bajaj2020" class="mim-anchor"></a>
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<div class="">
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Bajaj, L., Sharma, J., di Ronza, A., Zhang, P., Eblimit, A., Pal, R., Roman, D., Collette, J. R., Booth, C., Chang, K. T., Sifers, R. N., Jung, S. Y., Weimer, J. M., Chen, R., Schekman, R. W., Sardiello, M.
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<strong>A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.</strong>
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J. Clin. Invest. 130: 4118-4132, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32597833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32597833</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32597833[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=32597833" 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/10.1172/JCI130955" target="_blank">Full Text</a>]
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<a id="Bronson1993" class="mim-anchor"></a>
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Bronson, R. T., Lake, B. D., Cook, S., Taylor, S., Davisson, M. T.
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<strong>Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease).</strong>
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Ann. Neurol. 33: 381-385, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7683855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7683855</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7683855" 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/10.1002/ana.410330408" target="_blank">Full Text</a>]
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<a id="Cannelli2006" class="mim-anchor"></a>
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Cannelli, N., Cassandrini, D., Bertini, E., Striano, P., Fusco, L., Gaggero, R., Specchio, N., Biancheri, R., Vigevano, F., Bruno, C., Simonati, A., Zara, F., Santorelli, F. M.
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<strong>Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean.</strong>
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Neurogenetics 7: 111-117, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16570191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16570191</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16570191" 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/s10048-005-0024-y" target="_blank">Full Text</a>]
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<a id="Katz2005" class="mim-anchor"></a>
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Katz, M. L., Khan, S., Awano, T., Shahid, S. A., Siakotos, A. N., Johnson, G. S.
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<strong>A mutation in the CLN8 gene in English setter dogs with neuronal ceroid-lipofuscinosis.</strong>
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Biochem. Biophys. Res. Commun. 327: 541-547, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15629147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15629147</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15629147" 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.bbrc.2004.12.038" target="_blank">Full Text</a>]
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Lonka, L., Kyttala, A., Ranta, S., Jalanko, A., Lehesjoki, A.-E.
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<strong>The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.</strong>
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Hum. Molec. Genet. 9: 1691-1697, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861296</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10861296" 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/9.11.1691" target="_blank">Full Text</a>]
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Mitchell, W. A., Wheeler, R. B., Sharp, J. D., Bate, S. L., Gardiner, R. M., Ranta, U. S., Lonka, L., Williams, R. E., Lehesjoki, A.-E., Mole, S. E.
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<strong>Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.</strong>
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Europ. J. Paediat. Neurol. 5 (suppl. A): 21-27, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11589000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11589000</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11589000" 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/10.1053/ejpn.2000.0429" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Ranta2004" class="mim-anchor"></a>
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Ranta, S., Topcu, M., Tegelberg, S., Tan, H., Ustubutun, A., Saatci, I., Dufke, A., Enders, H., Pohl, K., Alembik, Y., Mitchell, W. A., Mole, S. E., Lehesjoki, A.-E.
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<strong>Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.</strong>
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Hum. Mutat. 23: 300-305, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024724</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15024724" 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/10.1002/humu.20018" target="_blank">Full Text</a>]
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<a id="Ranta1999" class="mim-anchor"></a>
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Ranta, S., Zhang, Y., Ross, B., Lonka, L., Takkunen, E., Messer, A., Sharp, J., Wheeler, R., Kusumi, K., Mole, S., Liu, W., Soares, M. B., de Fatima Bonaldo, M., Hirvasniemi, A., de la Chapelle, A., Gilliam, T. C., Lehesjoki, A.-E.
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<strong>The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.</strong>
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Nature Genet. 23: 233-236, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508524</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10508524" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/13868" target="_blank">Full Text</a>]
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<a id="Ranta1999" class="mim-anchor"></a>
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Ranta, S.
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<strong>Personal Communication.</strong>
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Helsinki, Finland 10/1/1999.
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<a id="Topcu2004" class="mim-anchor"></a>
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Topcu, M., Tan, H., Yalnizoglu, D., Usubutun, A., Saatci, I., Aynaci, M., Anlar, B., Topaloglu, H., Turanli, G., Kose, G., Aysun, S.
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<strong>Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.</strong>
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Turk. J. Pediat. 46: 1-10, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15074367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15074367</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15074367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Vantaggiato2009" class="mim-anchor"></a>
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Vantaggiato, C., Redaelli, F., Falcone, S., Perrotta, C, Tonelli, A., Bondioni, S., Morbin, M., Riva, D., Saletti, V., Bonaglia, M. C., Giorda, R., Bresolin, N., Clementi, E., Bassi, M. T.
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<strong>A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.</strong>
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Hum. Mutat. 30: 1104-1116, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19431184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19431184</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19431184" 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/10.1002/humu.21012" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Bao Lige - updated : 07/03/2024
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/10/2009<br>Cassandra L. Kniffin - updated : 8/24/2006<br>Victor A. McKusick - updated : 5/5/2004
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Victor A. McKusick : 5/29/2003
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alopez : 07/03/2024
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carol : 08/11/2020<br>wwang : 12/03/2009<br>ckniffin : 11/10/2009<br>wwang : 7/21/2009<br>wwang : 9/7/2006<br>ckniffin : 8/24/2006<br>carol : 3/24/2006<br>ckniffin : 3/24/2006<br>ckniffin : 3/24/2006<br>ckniffin : 3/21/2006<br>ckniffin : 3/16/2006<br>tkritzer : 5/27/2004<br>terry : 5/5/2004<br>carol : 5/29/2003<br>carol : 5/29/2003
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<strong>*</strong> 607837
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CLN8 TRANSMEMBRANE ER AND ERGIC PROTEIN; CLN8
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CLN8 GENE
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<strong><em>HGNC Approved Gene Symbol: CLN8</em></strong>
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<strong>SNOMEDCT:</strong> 703526007;
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 8p23.3
|
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|
Genomic coordinates <span class="small">(GRCh38)</span> : 8:1,753,059-1,786,570 </span>
|
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</em>
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</strong>
|
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
|
</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
8p23.3
|
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</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Ceroid lipofuscinosis, neuronal, 8
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
600143
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
610003
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
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<br />
|
|
</div>
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<div>
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|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Ranta et al. (1999) reported the positional cloning of a novel gene, CLN8, in the critical region of chromosome 8p for progressive epilepsy with mental retardation (EPMR; 610003), or Northern epilepsy. The CLN8 gene encodes a deduced 286-amino acid transmembrane protein with a molecular mass of 80 kD. Ranta et al. (1999) also cloned mouse Cln8. </p><p>To determine the intracellular localization of CLN8, Lonka et al. (2000) transiently transfected BHK cell lines with CLN8 cDNA. Using CLN8- and cell organelle-specific antibodies with confocal immunofluorescence microscopy, they showed that the CLN8 protein localizes primarily in the ER, with partial localization in the ER-Golgi intermediate compartment (ERGIC). The ER-ERGIC localization was not altered in the CLN8 protein containing a human CLN8 mutation (600143.0001). However, the truncated murine mnd mutant protein was found only in the ER. Mutations in the ER retrieval signal KKRP resulted in localization of CLN8 to the Golgi apparatus. The authors concluded that CLN8 is an ER resident protein that recycles between ER and ERGIC. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Ranta et al. (1999) identified the CLN8 gene within the critical region of chromosome 8p for neuronal ceroid lipofuscinosis-8 (CLN8; 600143). Ranta (1999) stated that the Cln8 gene is located in the centromeric region of mouse chromosome 8p, between markers D8Mit124 and D8Mit61. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using bimolecular fluorescence complementation (BiFC), Bajaj et al. (2020) demonstrated that Cln8 interacted with Cln6 (606725) in the ER. Cln8 is localized to the ER and the ER-Golgi intermediate compartment, and Cln8 trafficking to the Golgi was found to be uncoupled from its interaction with Cln6. Cln8 and Cln6 were mutually necessary for their interaction with lysosomal enzymes. Cln8 and Cln6 functioned as obligate partners in the recruitment of newly synthesized lysosomal enzymes in the ER, but the subsequent transfer of enzymes to the Golgi was mediated by Cln8 only. Analysis with Cln6 and Cln8 single- or double-knockout mice indicated that Cln6 and Cln8 worked as a functional unit in vivo, as loss of Cln6 did not aggravate pathology of Cln8-deficient mice and vice vera. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Ranta et al. (1999) found that 22 Finnish patients with the Northern epilepsy variant of CLN8, were homozygous for an arg24-to-gly mutation in the CLN8 gene (607837.0001). The findings indicated a founder effect. </p><p>In 9 of 18 families with the so-called Turkish variant of late infantile CLN, Ranta et al. (2004) identified 4 mutations in the CLN8 gene (see 607837.0002-607837.0004), indicating that these patients in fact had CLN8. </p><p>In 3 unrelated Italian patients with CLN8, Cannelli et al. (2006) identified homozygous or compound heterozygous mutations in the CLN8 gene (see, e.g., 607837.0005 and 607837.0006, respectively). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Ranta et al. (1999) found conservation of the codon harboring the human CLN8 mutation with the localization of a mutation in the 'motor neuron degeneration' (mnd) mouse, a naturally occurring mouse NCL (Bronson et al., 1993). In mnd/mnd mice, they identified a homozygous 1-bp insertion (267-268insC at codon 90) predicting a frameshift and a truncated protein. This was the first description of the molecular basis of a naturally occurring animal model for NCL. </p><p>Katz et al. (2005) identified a leu164-to-pro (L164P) mutation in the Cln8 gene in English setter dogs with autosomal recessive NCL. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CLN8, ARG24GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894064,
|
|
|
|
|
|
gnomAD: rs104894064,
|
|
|
|
|
|
ClinVar: RCV000002936, RCV000409951, RCV000820654, RCV005041973
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 22 Finnish patients with the Northern epilepsy variant of CLN8 (610003), Ranta et al. (1999) found homozygosity for an arg24-to-gly (R24G) missense mutation which resulted from a C-to-G transversion at nucleotide 70. The carrier frequency was 1 in 135, consistent with a founder mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CEROID LIPOFUSCINOSIS, NEURONAL, 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CLN8, TRP263CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28940569,
|
|
|
|
|
|
|
|
ClinVar: RCV000002937, RCV001090293, RCV001851598
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 3 families with the so-called Turkish variant of late infantile CLN, originally reported by Topcu et al. (2004), Ranta et al. (2004) identified homozygosity for a 789G-C transversion in exon 3 of the CLN8 gene, resulting in a trp263-to-cys (W263C) mutation. The findings indicated that these patients in fact had CLN8 (600143). In affected members of another Turkish family reported by Topcu et al. (2004), Ranta et al. (2004) found compound heterozygosity for W263C and R204C (607837.0003). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CEROID LIPOFUSCINOSIS, NEURONAL, 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CLN8, ARG204CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894060,
|
|
|
|
|
|
gnomAD: rs104894060,
|
|
|
|
|
|
ClinVar: RCV000002938, RCV000763180, RCV000805014, RCV002225256, RCV002291264
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 5 families with the so-called Turkish variant of late infantile CLN, originally reported by Mitchell et al. (2001) and Topcu et al. (2004), Ranta et al. (2004) identified a homozygous 610C-T transition in exon 3 of the CLN8 gene, resulting in an arg204-to-cys (R204C) mutation. The findings indicated that these patients in fact had CLN8 (600143). In affected members of another Turkish family reported by Topcu et al. (2004), Ranta et al. (2004) found compound heterozygosity for R204C and W263C (607837.0002). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CEROID LIPOFUSCINOSIS, NEURONAL, 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CLN8, 1-BP DEL, 88G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs386834139,
|
|
|
|
|
|
gnomAD: rs386834139,
|
|
|
|
|
|
ClinVar: RCV000050133
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with the so-called Turkish variant of late-infantile CLN, originally reported by Mitchell et al. (2001), Ranta et al. (2004) identified a homozygous 1-bp deletion (88delG) in the CLN8 gene, resulting in a frameshift and premature termination of the protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CEROID LIPOFUSCINOSIS, NEURONAL, 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CLN8, ALA30PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852883,
|
|
|
|
|
|
gnomAD: rs137852883,
|
|
|
|
|
|
ClinVar: RCV000002940
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian child with CLN8 (600143), born of consanguineous parents, Cannelli et al. (2006) identified a homozygous 88G-C transversion in exon 2 of the CLN8 gene, resulting in an ala30-to-pro (A30P) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CEROID LIPOFUSCINOSIS, NEURONAL, 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CLN8, 1-BP DEL, 66G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34238807,
|
|
|
|
|
|
gnomAD: rs34238807,
|
|
|
|
|
|
ClinVar: RCV000050131
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated Italian children with CLN8 (600143), Cannelli et al. (2006) identified compound heterozygosity for 2 mutations in the CLN8 gene: a shared 1-bp deletion (66delG) and a different pathogenic missense mutation in each child. Haplotype analysis of the 66delG mutation suggested a common ancestor. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CEROID LIPOFUSCINOSIS, NEURONAL, 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CLN8, 3-BP DEL, 180GAA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs386834123,
|
|
|
|
|
|
|
|
ClinVar: RCV000050116
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian boy with CLN8 (600143), Vantaggiato et al. (2009) identified a homozygous 3-bp deletion (180delGAA) in exon 2 of the CLN8 gene, resulting in the deletion of residue lys61. Further studies showed that the patient had complete isodisomy of maternal chromosome 8. In vitro studies in human neuroblastoma cells and mouse neuronal cells showed that the mutation did not affect protein localization neuronal differentiation, or cellular migration, but did result in increased cellular proliferation that was specific to neuronal cells. Cells with the 180delGAA mutation also showed an increased apoptotic response to NMDA. The findings suggested an indirect role for CLN8 in cell survival. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bajaj, L., Sharma, J., di Ronza, A., Zhang, P., Eblimit, A., Pal, R., Roman, D., Collette, J. R., Booth, C., Chang, K. T., Sifers, R. N., Jung, S. Y., Weimer, J. M., Chen, R., Schekman, R. W., Sardiello, M.
|
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<strong>A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.</strong>
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</p>
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Bronson, R. T., Lake, B. D., Cook, S., Taylor, S., Davisson, M. T.
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<strong>Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease).</strong>
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Ann. Neurol. 33: 381-385, 1993.
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[PubMed: 7683855]
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[Full Text: https://doi.org/10.1002/ana.410330408]
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Cannelli, N., Cassandrini, D., Bertini, E., Striano, P., Fusco, L., Gaggero, R., Specchio, N., Biancheri, R., Vigevano, F., Bruno, C., Simonati, A., Zara, F., Santorelli, F. M.
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<strong>Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean.</strong>
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Neurogenetics 7: 111-117, 2006.
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[PubMed: 16570191]
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[Full Text: https://doi.org/10.1007/s10048-005-0024-y]
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Katz, M. L., Khan, S., Awano, T., Shahid, S. A., Siakotos, A. N., Johnson, G. S.
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<strong>A mutation in the CLN8 gene in English setter dogs with neuronal ceroid-lipofuscinosis.</strong>
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Biochem. Biophys. Res. Commun. 327: 541-547, 2005.
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[PubMed: 15629147]
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[Full Text: https://doi.org/10.1016/j.bbrc.2004.12.038]
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Lonka, L., Kyttala, A., Ranta, S., Jalanko, A., Lehesjoki, A.-E.
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<strong>The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.</strong>
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Hum. Molec. Genet. 9: 1691-1697, 2000.
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[PubMed: 10861296]
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[Full Text: https://doi.org/10.1093/hmg/9.11.1691]
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</p>
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<li>
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Mitchell, W. A., Wheeler, R. B., Sharp, J. D., Bate, S. L., Gardiner, R. M., Ranta, U. S., Lonka, L., Williams, R. E., Lehesjoki, A.-E., Mole, S. E.
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<strong>Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.</strong>
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Europ. J. Paediat. Neurol. 5 (suppl. A): 21-27, 2001.
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[PubMed: 11589000]
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[Full Text: https://doi.org/10.1053/ejpn.2000.0429]
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Ranta, S., Topcu, M., Tegelberg, S., Tan, H., Ustubutun, A., Saatci, I., Dufke, A., Enders, H., Pohl, K., Alembik, Y., Mitchell, W. A., Mole, S. E., Lehesjoki, A.-E.
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<strong>Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.</strong>
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Hum. Mutat. 23: 300-305, 2004.
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[PubMed: 15024724]
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[Full Text: https://doi.org/10.1002/humu.20018]
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Ranta, S., Zhang, Y., Ross, B., Lonka, L., Takkunen, E., Messer, A., Sharp, J., Wheeler, R., Kusumi, K., Mole, S., Liu, W., Soares, M. B., de Fatima Bonaldo, M., Hirvasniemi, A., de la Chapelle, A., Gilliam, T. C., Lehesjoki, A.-E.
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<strong>The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.</strong>
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Nature Genet. 23: 233-236, 1999.
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[PubMed: 10508524]
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[Full Text: https://doi.org/10.1038/13868]
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Ranta, S.
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<strong>Personal Communication.</strong>
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Helsinki, Finland 10/1/1999.
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Topcu, M., Tan, H., Yalnizoglu, D., Usubutun, A., Saatci, I., Aynaci, M., Anlar, B., Topaloglu, H., Turanli, G., Kose, G., Aysun, S.
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<strong>Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.</strong>
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Turk. J. Pediat. 46: 1-10, 2004.
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[PubMed: 15074367]
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Vantaggiato, C., Redaelli, F., Falcone, S., Perrotta, C, Tonelli, A., Bondioni, S., Morbin, M., Riva, D., Saletti, V., Bonaglia, M. C., Giorda, R., Bresolin, N., Clementi, E., Bassi, M. T.
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<strong>A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.</strong>
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Hum. Mutat. 30: 1104-1116, 2009.
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[PubMed: 19431184]
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[Full Text: https://doi.org/10.1002/humu.21012]
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