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<title>
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Entry
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- *154580 - MANNOSIDASE, ALPHA, CLASS 2C, MEMBER 1; MAN2C1
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- OMIM
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</ul>
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</nav>
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</div>
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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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</ul>
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</div>
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<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
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</form>
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<p />
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<div 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">*154580</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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</li>
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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="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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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/154580">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=ENSG00000140400;t=ENST00000267978" 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=4123" 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=154580" 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=ENSG00000140400;t=ENST00000267978" 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_001256494,NM_001256495,NM_001256496,NM_006715" 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_006715" 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=154580" 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=01109&isoform_id=01109_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/MAN2C1" 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/1017779,6136294,7018434,27923805,30046779,46852164,51480466,62087862,119619658,119619659,119619660,194378866,194379802,332367670,374532775,374532777,374532779" 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/Q9NTJ4" 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=4123" 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=ENSG00000140400;t=ENST00000267978" 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=MAN2C1" 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=MAN2C1" 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+4123" 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/MAN2C1" 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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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4123" 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=chr15&hgg_gene=ENST00000267978.10&hgg_start=75355792&hgg_end=75368607&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:6827" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=154580[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=154580[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000140400" 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=MAN2C1" 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=MAN2C1" 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=MAN2C1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MAN2C1&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/PA30576" 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:6827" 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:1920994" 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/MAN2C1#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:1920994" 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/4123/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=4123" 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-101103-4" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
|
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4123" 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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<div><a href="https://reactome.org/content/query?q=MAN2C1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
154580
|
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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>
|
|
<h3>
|
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<span class="mim-font">
|
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|
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MANNOSIDASE, ALPHA, CLASS 2C, MEMBER 1; MAN2C1
|
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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>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
MANNOSIDASE, ALPHA A, CYTOPLASMIC; MANA
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MAN2C1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MAN2C1</a></em></strong>
|
|
</span>
|
|
</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/15/397?start=-3&limit=10&highlight=397">15q24.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:75355792-75368607&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'})">15:75,355,792-75,368,607</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/15/397?start=-3&limit=10&highlight=397">
|
|
15q24.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Congenital disorder of deglycosylation 2
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/619775"> 619775 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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<p>MAN2C1 hydrolyzes mannose residues from the cytosolic free oligosaccharides (fOS) derived from N-glycans during the degradation of misfolded N-glycoproteins (<a href="#6" class="mim-tip-reference" title="Wang, L., Suzuki, T. <strong>Dual functions for cytosolic alpha-mannosidase (Man2C1): its down-regulation causes mitochondria-dependent apoptosis independently of its alpha-mannosidase activity.</strong> J. Biol. Chem. 288: 11887-11896, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23486476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23486476</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23486476[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/10.1074/jbc.M112.425702" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23486476">Wang and Suzuki, 2013</a>; <a href="#5" class="mim-tip-reference" title="Paciotti, S., Persichetti, E., Klein, K., Tasegian, A., Duvet, S., Hartmann, D., Gieselmann, V., Beccari, T. <strong>Accumulation of free oligosaccharides and tissue damage in cytosolic alpha-mannosidase (Man2c1)-deficient mice.</strong> J. Biol. Chem 289: 9611-9622, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24550399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24550399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24550399[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/10.1074/jbc.M114.550509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24550399">Paciotti et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23486476+24550399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Maia, N., Potelle, S., Yildirim, H., Duvet, S., Akula, S. K., Schulz, C., Wiame, E., Gheldof, A., O'Kane, K., Lai, A., Sermon, K., Proisy, M., and 13 others. <strong>Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.</strong> Am. J. Hum. Genet. 109: 345-360, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35045343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35045343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35045343[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.12.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35045343">Maia et al. (2022)</a> stated that the MAN2C1 gene encodes a 1,040-amino acid protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35045343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Maia, N., Potelle, S., Yildirim, H., Duvet, S., Akula, S. K., Schulz, C., Wiame, E., Gheldof, A., O'Kane, K., Lai, A., Sermon, K., Proisy, M., and 13 others. <strong>Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.</strong> Am. J. Hum. Genet. 109: 345-360, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35045343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35045343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35045343[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.12.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35045343">Maia et al. (2022)</a> stated that the MAN2C1 gene contains 26 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35045343" 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>Cytoplasmic alpha-mannosidase (MANA) was assigned to chromosome 15q11-qter by study of an X;15 translocation in man-mouse hybrids (<a href="#1" class="mim-tip-reference" title="Champion, M. J., Brown, J. A., Shows, T. B. <strong>Assignment of cytoplasmic alpha-mannosidase (MAN-A) and confirmation of the mitochondrial isocitrate dehydrogenase (IDH-M) genes to the q11--qter region of chromosome 15 in man.</strong> Cytogenet. Cell Genet. 22: 498-502, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/752528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">752528</a>] [<a href="https://doi.org/10.1159/000131007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="752528">Champion et al., 1978</a>). <a href="#4" class="mim-tip-reference" title="Neri, G., Ricci, R., Pelino, A., Bova, R., Tedeschi, B., Serra, A. <strong>A boy with ring chromosome 15 derived from a t(15q;15q) Robertsonian translocation in the mother: cytogenetic and biochemical findings.</strong> Am. J. Med. Genet. 14: 307-314, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6220608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6220608</a>] [<a href="https://doi.org/10.1002/ajmg.1320140211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6220608">Neri et al. (1983)</a> described a boy with a ring chromosome 15 derived from a t(15q;15q) chromosome of the mother. The ring chromosome was duplicated for a portion of the long arms near the centromere, probably cen-q13. Dosage effects suggested that the alpha-mannosidase gene is located in this segment. Since a shortest region of overlap (SRO) of 15q11-qter had been estimated by <a href="#2" class="mim-tip-reference" title="Ferguson-Smith, M. A., Westerveld, A. <strong>Report of the committee on the genetic constitution of chromosomes 13, 14, 15, 16, 17, 18, 19, 20, 21, and 22 (HGM5).</strong> Cytogenet. Cell Genet. 25: 59-73, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/396129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">396129</a>] [<a href="https://doi.org/10.1159/000131400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="396129">Ferguson-Smith and Westerveld (1979)</a>, the new information places the MAN2C1 gene in the 15q11-q13 segment. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=752528+396129+6220608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Maia, N., Potelle, S., Yildirim, H., Duvet, S., Akula, S. K., Schulz, C., Wiame, E., Gheldof, A., O'Kane, K., Lai, A., Sermon, K., Proisy, M., and 13 others. <strong>Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.</strong> Am. J. Hum. Genet. 109: 345-360, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35045343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35045343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35045343[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.12.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35045343">Maia et al. (2022)</a> studied fOS processing in MAN2C1 knockout HAP1 cells. Larger fOS species predominated in the knockout cells compared to wildtype cells; after mannose pulse-chase metabolic labeling, the knockout cells showed a complete lack of fOS processing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35045343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using knockdown analysis in HeLa cells, <a href="#6" class="mim-tip-reference" title="Wang, L., Suzuki, T. <strong>Dual functions for cytosolic alpha-mannosidase (Man2C1): its down-regulation causes mitochondria-dependent apoptosis independently of its alpha-mannosidase activity.</strong> J. Biol. Chem. 288: 11887-11896, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23486476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23486476</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23486476[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/10.1074/jbc.M112.425702" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23486476">Wang and Suzuki (2013)</a> showed that downregulation of MAN2C1 impaired processing of cytosolic fOS, leading to increased accumulation of fOS in the cytosol and apoptosis of the cells. The apoptosis was mitochondria-dependent, as the downregulation stimulated release of mitochondrial cytochrome c to the cytosol and thereby induced the caspase-9-dependent apoptotic signaling pathway. CHOP (<a href="/entry/126337">126337</a>) was involved in the apoptosis, as the MAN2C1 downregulation also caused enhanced CHOP expression. The downregulation did not trigger ER stress, indicating that ER stress was not involved in the apoptosis. The apoptosis was not related to the enzymatic function of MAN2C1. Further analysis demonstrated that the apoptosis was not specific to HeLa cells, as the same results were seen in 2 other types of human cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23486476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Maia, N., Potelle, S., Yildirim, H., Duvet, S., Akula, S. K., Schulz, C., Wiame, E., Gheldof, A., O'Kane, K., Lai, A., Sermon, K., Proisy, M., and 13 others. <strong>Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.</strong> Am. J. Hum. Genet. 109: 345-360, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35045343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35045343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35045343[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.12.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35045343">Maia et al. (2022)</a> identified biallelic mutations in the MAN2C1 gene in 6 patients from 4 families, including 2 sib pairs, with CDDG2. Five different mutations were identified, including 3 missense, 1 splicing, and 1 deletion. The mutations were identified by whole-exome sequencing. Whereas decreased mannosidase activity was demonstrated for MAN2C1 with 2 of the missense mutations (R768Q, <a href="#0002">154580.0002</a>; G203R, <a href="#0005">154580.0005</a>), the activity was normal with the C871S mutation (<a href="#0003">154580.0003</a>). <a href="#3" class="mim-tip-reference" title="Maia, N., Potelle, S., Yildirim, H., Duvet, S., Akula, S. K., Schulz, C., Wiame, E., Gheldof, A., O'Kane, K., Lai, A., Sermon, K., Proisy, M., and 13 others. <strong>Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.</strong> Am. J. Hum. Genet. 109: 345-360, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35045343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35045343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35045343[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.12.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35045343">Maia et al. (2022)</a> hypothesized that the C871S mutation might lead to abnormal intersubunit interactions or tetramer formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35045343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Paciotti, S., Persichetti, E., Klein, K., Tasegian, A., Duvet, S., Hartmann, D., Gieselmann, V., Beccari, T. <strong>Accumulation of free oligosaccharides and tissue damage in cytosolic alpha-mannosidase (Man2c1)-deficient mice.</strong> J. Biol. Chem 289: 9611-9622, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24550399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24550399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24550399[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/10.1074/jbc.M114.550509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24550399">Paciotti et al. (2014)</a> found that Man2c1 -/- mice were fertile and showed no difference from wildtype mice in growth, weight, or life span up to 12 months. Oligosaccharide analysis showed accumulation of higher oligomannosides species, particularly Man8-9GlcNAc1, in Man2c1 -/- tissues. Accumulation of Man8-9GlcNAc1 species was tissue-specific, being more abundant in liver and spleen than in brain and heart. Smaller mannose-containing oligosaccharide species Man1GlcNAc1 to Man7GlcNAc1 were also present, indicating that another cellular alpha-mannosidase was able to trim Man2c1 substrates. Histologic analysis revealed major histopathologic changes in several organs, with most impressive alteration in liver, small intestine, kidney, and CNS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24550399" 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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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>5 Selected Examples</a>):</strong>
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<a href="/allelicVariants/154580" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=154580[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 CONGENITAL DISORDER OF DEGLYCOSYLATION 2</strong>
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MAN2C1, IVS5AS, A-G, -2
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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> rs147928844 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs147928844;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/rs147928844?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=rs147928844" 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=rs147928844" 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=RCV001843379" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001843379" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001843379</a>
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<p>In 3 patients, including 2 Portuguese sibs (individuals 1 and 2, family 1) and an American man (individual 6, family 5), with congenital disorder of deglycosylation-2 (CDDG2; <a href="/entry/619775">619775</a>), <a href="#3" class="mim-tip-reference" title="Maia, N., Potelle, S., Yildirim, H., Duvet, S., Akula, S. K., Schulz, C., Wiame, E., Gheldof, A., O'Kane, K., Lai, A., Sermon, K., Proisy, M., and 13 others. <strong>Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.</strong> Am. J. Hum. Genet. 109: 345-360, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35045343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35045343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35045343[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.12.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35045343">Maia et al. (2022)</a> identified compound heterozygous mutations in the MAN2C1 gene. All 3 patients had a c.601-2A-G transition (c.601-2A-G, NM_006715.3) in intron 5, resulting in a frameshift and premature termination (Gly201ProfsTer10), on one allele. On the other allele, the sibs had a c.2303G-A transition in exon 20, resulting in an arg768-to-gln (R768Q; <a href="#0002">154580.0002</a>) substitution, and the American patient had a c.2612G-C transversion, resulting in a cys871-to-ser (C871S; <a href="#0003">154580.0003</a>). The mutations, which were identified by whole-exome sequencing, were found in the carrier state in the parents in both families. The c.601-2A-G variant was present in the gnomAD database at an allele frequency of 0.11% in only heterozygous state; the R768Q was present at an allele frequency of 0.33% and was found in 5 homozygotes; and the C871S variant was present at an allele frequency of 0.049% in only heterozygous state. Complementation of MAN2C1 knockout HAP1 cells with MAN2C1 with the R768Q mutation demonstrated a free oligosaccharide processing defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35045343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 CONGENITAL DISORDER OF DEGLYCOSYLATION 2</strong>
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MAN2C1, ARG768GLN
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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> rs62029711 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs62029711;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/rs62029711?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=rs62029711" 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=rs62029711" 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=RCV001843380 OR RCV004587220" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001843380, RCV004587220" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001843380...</a>
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<p>For discussion of the c.2303G-A transition (c.2303G-A, NM_006715.3) in exon 20 of the MAN2C1 gene, resulting in an arg768-to-gln (R768Q) substitution, that was identified in compound heterozygous state in 2 sibs with congenital disorder of deglycosylation-2 (CDDG2; <a href="/entry/619775">619775</a>), by <a href="#3" class="mim-tip-reference" title="Maia, N., Potelle, S., Yildirim, H., Duvet, S., Akula, S. K., Schulz, C., Wiame, E., Gheldof, A., O'Kane, K., Lai, A., Sermon, K., Proisy, M., and 13 others. <strong>Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.</strong> Am. J. Hum. Genet. 109: 345-360, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35045343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35045343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35045343[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.12.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35045343">Maia et al. (2022)</a>, see <a href="#0001">154580.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35045343" 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> rs143755898 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs143755898;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/rs143755898?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=rs143755898" 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=rs143755898" 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=RCV001843381" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001843381" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001843381</a>
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<p>For discussion of the c.2612G-C transversion (c.2612G-C, NM_006715.3) in exon 22 of the MAN2C1 gene, resulting in a cys871-to-ser (C871S) substitution, that was identified in compound heterozygous state in 2 sibs with congenital disorder of deglycosylation-2 (CDDG2; <a href="/entry/619775">619775</a>), by <a href="#3" class="mim-tip-reference" title="Maia, N., Potelle, S., Yildirim, H., Duvet, S., Akula, S. K., Schulz, C., Wiame, E., Gheldof, A., O'Kane, K., Lai, A., Sermon, K., Proisy, M., and 13 others. <strong>Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.</strong> Am. J. Hum. Genet. 109: 345-360, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35045343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35045343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35045343[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.12.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35045343">Maia et al. (2022)</a>, see <a href="#0001">154580.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35045343" 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>.0004 CONGENITAL DISORDER OF DEGLYCOSYLATION 2</strong>
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MAN2C1, 2-BP DEL, NT2733
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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> rs763231900 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs763231900;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/rs763231900?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=rs763231900" 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=rs763231900" 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=RCV001843382" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001843382" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001843382</a>
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<p>In 2 French sibs (individuals 3 and 4, family 2) with congenital disorder of deglycosylation-2 (CDDG2; <a href="/entry/619775">619775</a>), <a href="#3" class="mim-tip-reference" title="Maia, N., Potelle, S., Yildirim, H., Duvet, S., Akula, S. K., Schulz, C., Wiame, E., Gheldof, A., O'Kane, K., Lai, A., Sermon, K., Proisy, M., and 13 others. <strong>Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.</strong> Am. J. Hum. Genet. 109: 345-360, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35045343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35045343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35045343[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.12.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35045343">Maia et al. (2022)</a> identified compound heterozygous mutations in the MAN2C1 gene: a 2-bp deletion (c.2733_2734del, NM_006715.3) in exon 23, resulting in a frameshift and premature termination (His911GlnfsTer67), and a C871S mutation (<a href="#0003">154580.0003</a>). The mutations, which were identified by whole-exome sequencing, were found in the carrier state in the parents. The c.2733_2734del variant was present in the gnomAD database in only heterozygous state at an allele frequency of 0.013%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35045343" 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>.0005 CONGENITAL DISORDER OF DEGLYCOSYLATION 2</strong>
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MAN2C1, GLY203ARG
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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> rs190692217 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs190692217;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/rs190692217?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=rs190692217" 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=rs190692217" 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=RCV001843383" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001843383" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001843383</a>
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<p>In a Moroccan patient with congenital disorder of deglycosylation-2 (CDDG2; <a href="/entry/619775">619775</a>), <a href="#3" class="mim-tip-reference" title="Maia, N., Potelle, S., Yildirim, H., Duvet, S., Akula, S. K., Schulz, C., Wiame, E., Gheldof, A., O'Kane, K., Lai, A., Sermon, K., Proisy, M., and 13 others. <strong>Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.</strong> Am. J. Hum. Genet. 109: 345-360, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35045343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35045343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35045343[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.12.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35045343">Maia et al. (2022)</a> identified homozygosity for a c.607G-A transition (c.607G-A, NM_006715.3) in exon 6 in the MAN2C1 gene, resulting in a gly203-to-arg (G203R) substitution. The mutation, which was identified by whole-exome sequencing, was found in the carrier state in the parents. The G203R variant was present in the gnomAD database in only heterozygous state at an allele frequency of 0.049%. Complementation of MAN2C1 knockout HAP1 cells with MAN2C1 with the RG203R mutation demonstrated a free oligosaccharide processing defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35045343" 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="Champion1978" class="mim-anchor"></a>
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Champion, M. J., Brown, J. A., Shows, T. B.
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<strong>Assignment of cytoplasmic alpha-mannosidase (MAN-A) and confirmation of the mitochondrial isocitrate dehydrogenase (IDH-M) genes to the q11--qter region of chromosome 15 in man.</strong>
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Cytogenet. Cell Genet. 22: 498-502, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/752528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">752528</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=752528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000131007" target="_blank">Full Text</a>]
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Ferguson-Smith, M. A., Westerveld, A.
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<strong>Report of the committee on the genetic constitution of chromosomes 13, 14, 15, 16, 17, 18, 19, 20, 21, and 22 (HGM5).</strong>
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Cytogenet. Cell Genet. 25: 59-73, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/396129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">396129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=396129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000131400" target="_blank">Full Text</a>]
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<a id="Maia2022" class="mim-anchor"></a>
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Maia, N., Potelle, S., Yildirim, H., Duvet, S., Akula, S. K., Schulz, C., Wiame, E., Gheldof, A., O'Kane, K., Lai, A., Sermon, K., Proisy, M., and 13 others.
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<strong>Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.</strong>
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Am. J. Hum. Genet. 109: 345-360, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35045343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35045343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35045343[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=35045343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2021.12.010" target="_blank">Full Text</a>]
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<a id="Neri1983" class="mim-anchor"></a>
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Neri, G., Ricci, R., Pelino, A., Bova, R., Tedeschi, B., Serra, A.
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<strong>A boy with ring chromosome 15 derived from a t(15q;15q) Robertsonian translocation in the mother: cytogenetic and biochemical findings.</strong>
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Am. J. Med. Genet. 14: 307-314, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6220608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6220608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6220608" 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/ajmg.1320140211" target="_blank">Full Text</a>]
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Paciotti, S., Persichetti, E., Klein, K., Tasegian, A., Duvet, S., Hartmann, D., Gieselmann, V., Beccari, T.
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<strong>Accumulation of free oligosaccharides and tissue damage in cytosolic alpha-mannosidase (Man2c1)-deficient mice.</strong>
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J. Biol. Chem 289: 9611-9622, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24550399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24550399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24550399[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=24550399" 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/10.1074/jbc.M114.550509" target="_blank">Full Text</a>]
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Wang, L., Suzuki, T.
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<strong>Dual functions for cytosolic alpha-mannosidase (Man2C1): its down-regulation causes mitochondria-dependent apoptosis independently of its alpha-mannosidase activity.</strong>
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J. Biol. Chem. 288: 11887-11896, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23486476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23486476</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23486476[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=23486476" 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/10.1074/jbc.M112.425702" target="_blank">Full Text</a>]
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Bao Lige - updated : 04/15/2022
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carol : 04/15/2022<br>joanna : 03/31/2022<br>joanna : 03/09/2022<br>carol : 03/04/2022<br>carol : 03/03/2022<br>carol : 07/24/2014<br>carol : 7/27/2005<br>carol : 9/20/1999<br>carol : 9/20/1999<br>carol : 1/13/1993<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>reenie : 6/2/1986
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MANNOSIDASE, ALPHA A, CYTOPLASMIC; MANA
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MAN2C1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 15q24.2
|
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:75,355,792-75,368,607 </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">
|
|
<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
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<th>
|
|
Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
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</th>
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<th>
|
|
Inheritance
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</th>
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<th>
|
|
Phenotype <br /> mapping key
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</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
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|
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<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
15q24.2
|
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</span>
|
|
</td>
|
|
|
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<td>
|
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<span class="mim-font">
|
|
Congenital disorder of deglycosylation 2
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
619775
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
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</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>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
|
<span class="mim-text-font">
|
|
<p>MAN2C1 hydrolyzes mannose residues from the cytosolic free oligosaccharides (fOS) derived from N-glycans during the degradation of misfolded N-glycoproteins (Wang and Suzuki, 2013; Paciotti et al., 2014). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Maia et al. (2022) stated that the MAN2C1 gene encodes a 1,040-amino acid protein. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Maia et al. (2022) stated that the MAN2C1 gene contains 26 exons. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
<span class="mim-text-font">
|
|
<p>Cytoplasmic alpha-mannosidase (MANA) was assigned to chromosome 15q11-qter by study of an X;15 translocation in man-mouse hybrids (Champion et al., 1978). Neri et al. (1983) described a boy with a ring chromosome 15 derived from a t(15q;15q) chromosome of the mother. The ring chromosome was duplicated for a portion of the long arms near the centromere, probably cen-q13. Dosage effects suggested that the alpha-mannosidase gene is located in this segment. Since a shortest region of overlap (SRO) of 15q11-qter had been estimated by Ferguson-Smith and Westerveld (1979), the new information places the MAN2C1 gene in the 15q11-q13 segment. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Maia et al. (2022) studied fOS processing in MAN2C1 knockout HAP1 cells. Larger fOS species predominated in the knockout cells compared to wildtype cells; after mannose pulse-chase metabolic labeling, the knockout cells showed a complete lack of fOS processing. </p><p>Using knockdown analysis in HeLa cells, Wang and Suzuki (2013) showed that downregulation of MAN2C1 impaired processing of cytosolic fOS, leading to increased accumulation of fOS in the cytosol and apoptosis of the cells. The apoptosis was mitochondria-dependent, as the downregulation stimulated release of mitochondrial cytochrome c to the cytosol and thereby induced the caspase-9-dependent apoptotic signaling pathway. CHOP (126337) was involved in the apoptosis, as the MAN2C1 downregulation also caused enhanced CHOP expression. The downregulation did not trigger ER stress, indicating that ER stress was not involved in the apoptosis. The apoptosis was not related to the enzymatic function of MAN2C1. Further analysis demonstrated that the apoptosis was not specific to HeLa cells, as the same results were seen in 2 other types of human cells. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Maia et al. (2022) identified biallelic mutations in the MAN2C1 gene in 6 patients from 4 families, including 2 sib pairs, with CDDG2. Five different mutations were identified, including 3 missense, 1 splicing, and 1 deletion. The mutations were identified by whole-exome sequencing. Whereas decreased mannosidase activity was demonstrated for MAN2C1 with 2 of the missense mutations (R768Q, 154580.0002; G203R, 154580.0005), the activity was normal with the C871S mutation (154580.0003). Maia et al. (2022) hypothesized that the C871S mutation might lead to abnormal intersubunit interactions or tetramer formation. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Paciotti et al. (2014) found that Man2c1 -/- mice were fertile and showed no difference from wildtype mice in growth, weight, or life span up to 12 months. Oligosaccharide analysis showed accumulation of higher oligomannosides species, particularly Man8-9GlcNAc1, in Man2c1 -/- tissues. Accumulation of Man8-9GlcNAc1 species was tissue-specific, being more abundant in liver and spleen than in brain and heart. Smaller mannose-containing oligosaccharide species Man1GlcNAc1 to Man7GlcNAc1 were also present, indicating that another cellular alpha-mannosidase was able to trim Man2c1 substrates. Histologic analysis revealed major histopathologic changes in several organs, with most impressive alteration in liver, small intestine, kidney, and CNS. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>5 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CONGENITAL DISORDER OF DEGLYCOSYLATION 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MAN2C1, IVS5AS, A-G, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs147928844,
|
|
|
|
|
|
gnomAD: rs147928844,
|
|
|
|
|
|
ClinVar: RCV001843379
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 patients, including 2 Portuguese sibs (individuals 1 and 2, family 1) and an American man (individual 6, family 5), with congenital disorder of deglycosylation-2 (CDDG2; 619775), Maia et al. (2022) identified compound heterozygous mutations in the MAN2C1 gene. All 3 patients had a c.601-2A-G transition (c.601-2A-G, NM_006715.3) in intron 5, resulting in a frameshift and premature termination (Gly201ProfsTer10), on one allele. On the other allele, the sibs had a c.2303G-A transition in exon 20, resulting in an arg768-to-gln (R768Q; 154580.0002) substitution, and the American patient had a c.2612G-C transversion, resulting in a cys871-to-ser (C871S; 154580.0003). The mutations, which were identified by whole-exome sequencing, were found in the carrier state in the parents in both families. The c.601-2A-G variant was present in the gnomAD database at an allele frequency of 0.11% in only heterozygous state; the R768Q was present at an allele frequency of 0.33% and was found in 5 homozygotes; and the C871S variant was present at an allele frequency of 0.049% in only heterozygous state. Complementation of MAN2C1 knockout HAP1 cells with MAN2C1 with the R768Q mutation demonstrated a free oligosaccharide processing defect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CONGENITAL DISORDER OF DEGLYCOSYLATION 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MAN2C1, ARG768GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs62029711,
|
|
|
|
|
|
gnomAD: rs62029711,
|
|
|
|
|
|
ClinVar: RCV001843380, RCV004587220
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.2303G-A transition (c.2303G-A, NM_006715.3) in exon 20 of the MAN2C1 gene, resulting in an arg768-to-gln (R768Q) substitution, that was identified in compound heterozygous state in 2 sibs with congenital disorder of deglycosylation-2 (CDDG2; 619775), by Maia et al. (2022), see 154580.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CONGENITAL DISORDER OF DEGLYCOSYLATION 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MAN2C1, CYS871SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs143755898,
|
|
|
|
|
|
gnomAD: rs143755898,
|
|
|
|
|
|
ClinVar: RCV001843381
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.2612G-C transversion (c.2612G-C, NM_006715.3) in exon 22 of the MAN2C1 gene, resulting in a cys871-to-ser (C871S) substitution, that was identified in compound heterozygous state in 2 sibs with congenital disorder of deglycosylation-2 (CDDG2; 619775), by Maia et al. (2022), see 154580.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CONGENITAL DISORDER OF DEGLYCOSYLATION 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MAN2C1, 2-BP DEL, NT2733
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs763231900,
|
|
|
|
|
|
gnomAD: rs763231900,
|
|
|
|
|
|
ClinVar: RCV001843382
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 French sibs (individuals 3 and 4, family 2) with congenital disorder of deglycosylation-2 (CDDG2; 619775), Maia et al. (2022) identified compound heterozygous mutations in the MAN2C1 gene: a 2-bp deletion (c.2733_2734del, NM_006715.3) in exon 23, resulting in a frameshift and premature termination (His911GlnfsTer67), and a C871S mutation (154580.0003). The mutations, which were identified by whole-exome sequencing, were found in the carrier state in the parents. The c.2733_2734del variant was present in the gnomAD database in only heterozygous state at an allele frequency of 0.013%. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CONGENITAL DISORDER OF DEGLYCOSYLATION 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MAN2C1, GLY203ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs190692217,
|
|
|
|
|
|
gnomAD: rs190692217,
|
|
|
|
|
|
ClinVar: RCV001843383
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Moroccan patient with congenital disorder of deglycosylation-2 (CDDG2; 619775), Maia et al. (2022) identified homozygosity for a c.607G-A transition (c.607G-A, NM_006715.3) in exon 6 in the MAN2C1 gene, resulting in a gly203-to-arg (G203R) substitution. The mutation, which was identified by whole-exome sequencing, was found in the carrier state in the parents. The G203R variant was present in the gnomAD database in only heterozygous state at an allele frequency of 0.049%. Complementation of MAN2C1 knockout HAP1 cells with MAN2C1 with the RG203R mutation demonstrated a free oligosaccharide processing defect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
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|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Champion, M. J., Brown, J. A., Shows, T. B.
|
|
<strong>Assignment of cytoplasmic alpha-mannosidase (MAN-A) and confirmation of the mitochondrial isocitrate dehydrogenase (IDH-M) genes to the q11--qter region of chromosome 15 in man.</strong>
|
|
Cytogenet. Cell Genet. 22: 498-502, 1978.
|
|
|
|
|
|
[PubMed: 752528]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000131007]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ferguson-Smith, M. A., Westerveld, A.
|
|
<strong>Report of the committee on the genetic constitution of chromosomes 13, 14, 15, 16, 17, 18, 19, 20, 21, and 22 (HGM5).</strong>
|
|
Cytogenet. Cell Genet. 25: 59-73, 1979.
|
|
|
|
|
|
[PubMed: 396129]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000131400]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Maia, N., Potelle, S., Yildirim, H., Duvet, S., Akula, S. K., Schulz, C., Wiame, E., Gheldof, A., O'Kane, K., Lai, A., Sermon, K., Proisy, M., and 13 others.
|
|
<strong>Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.</strong>
|
|
Am. J. Hum. Genet. 109: 345-360, 2022.
|
|
|
|
|
|
[PubMed: 35045343]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2021.12.010]
|
|
|
|
|
|
</p>
|
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</li>
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Neri, G., Ricci, R., Pelino, A., Bova, R., Tedeschi, B., Serra, A.
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<strong>A boy with ring chromosome 15 derived from a t(15q;15q) Robertsonian translocation in the mother: cytogenetic and biochemical findings.</strong>
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Am. J. Med. Genet. 14: 307-314, 1983.
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[PubMed: 6220608]
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[Full Text: https://doi.org/10.1002/ajmg.1320140211]
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Paciotti, S., Persichetti, E., Klein, K., Tasegian, A., Duvet, S., Hartmann, D., Gieselmann, V., Beccari, T.
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<strong>Accumulation of free oligosaccharides and tissue damage in cytosolic alpha-mannosidase (Man2c1)-deficient mice.</strong>
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J. Biol. Chem 289: 9611-9622, 2014.
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[PubMed: 24550399]
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[Full Text: https://doi.org/10.1074/jbc.M114.550509]
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Wang, L., Suzuki, T.
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<strong>Dual functions for cytosolic alpha-mannosidase (Man2C1): its down-regulation causes mitochondria-dependent apoptosis independently of its alpha-mannosidase activity.</strong>
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J. Biol. Chem. 288: 11887-11896, 2013.
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[PubMed: 23486476]
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[Full Text: https://doi.org/10.1074/jbc.M112.425702]
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<span class="mim-text-font">
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Bao Lige - updated : 04/15/2022<br>Hilary J. Vernon - updated : 03/03/2022
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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