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<title>
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Entry
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- *603503 - DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 1, CATALYTIC SUBUNIT; DPM1
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- OMIM
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</li>
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<li role="separator" class="divider"></li>
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<li>
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<a href="/history"> Search History </a>
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</form>
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<div class="row">
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<p />
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</div>
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<div id="mimAlertBanner">
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603503</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>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603503">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=ENSG00000000419;t=ENST00000371588" 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=8813" 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=603503" 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=ENSG00000000419;t=ENST00000371588" 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_001317034,NM_001317035,NM_001317036,NM_003859,NR_133648,XM_047440577,XR_007067482" 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_003859" 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=603503" 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=04613&isoform_id=04613_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/DPM1" 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/2258418,3061293,3062806,4503363,13937927,14250108,16740926,20137697,48145969,119596013,119596014,119596015,158260161,950426340,950426342,950426345,957950533,957950536,957950539,2217336454,2462581929" 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/O60762" 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=8813" 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=ENSG00000000419;t=ENST00000371588" 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=DPM1" 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=DPM1" 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+8813" 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/DPM1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:8813" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/8813" 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=chr20&hgg_gene=ENST00000371588.10&hgg_start=50934855&hgg_end=50958564&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3005" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:3005" 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=603503[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=603503[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/DPM1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000000419" 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=DPM1" 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=DPM1" 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=DPM1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.euroglycanet.org/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=DPM1&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/PA27463" 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:3005" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0032799.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1330239" 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/DPM1#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:1330239" 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/8813/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=8813" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00022044;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040801-115" 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="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:603503" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8813" 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=DPM1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 725078006<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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603503
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 1, CATALYTIC SUBUNIT; DPM1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE 1<br />
|
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DOLICHOL-PHOSPHATE-MANNOSE SYNTHASE 1<br />
|
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MPD SYNTHASE; MPDS
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=DPM1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DPM1</a></em></strong>
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Congenital disorder of glycosylation, type Ie
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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>The DPM1 gene encodes the cytoplasmic catalytic subunit of dolichol-phosphate-mannose synthase (<a href="https://enzyme.expasy.org/EC/2.4.1.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.4.1.83</a>), an enzyme complex that synthesizes dolichol-phosphate-mannose (Dol-P-Man) from GDP-mannose and dolichol-phosphate. DPM2 (<a href="/entry/603564">603564</a>) and DPM3 (<a href="/entry/605951">605951</a>) are integral endoplasmic reticulum membrane proteins that stabilize the complex. Dol-P-Man serves as a donor of mannosyl residues in various eukaryotic glycosylation processes, including N-glycosylation of asparagine residues and O-mannosylation of alpha-dystroglycan (DAG1; <a href="/entry/128239">128239</a>) (summary by <a href="#4" class="mim-tip-reference" title="Garcia-Silva, M. T., Matthijs, G., Schollen, E., Cabrera, J. C., Sanchez del Pozo, J., Marti Herreros, M., Simon, R., Maties, M., Martin Hernandez, E., Hennet, T., Briones, P. <strong>Congenital disorder of glycosylation (CDG) type Ie: a new patient.</strong> J. Inherit. Metab. Dis. 27: 591-600, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15669674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15669674</a>] [<a href="https://doi.org/10.1023/b:boli.0000042984.42433.d8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15669674">Garcia-Silva et al., 2004</a> and <a href="#9" class="mim-tip-reference" title="Yang, A. C., Ng, B. G., Moore, S. A., Rush, J., Waechter, C. J., Raymond, K. M., Willer, T., Campbell, K. P., Freeze, H. H., Mehta, L. <strong>Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.</strong> Molec. Genet. Metab. 110: 345-351, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23856421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23856421</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23856421[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.ymgme.2013.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23856421">Yang et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23856421+15669674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The S. cerevisiae dpm1 gene encodes a Dol-P-Man synthase that is a transmembrane protein expressed in the endoplasmic reticulum. By searching an EST database for homologs of yeast dpm1, <a href="#8" class="mim-tip-reference" title="Tomita, S., Inoue, N., Maeda, Y., Ohishi, K., Takeda, J., Kinoshita, T. <strong>A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells.</strong> J. Biol. Chem. 273: 9249-9254, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9535917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9535917</a>] [<a href="https://doi.org/10.1074/jbc.273.15.9249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9535917">Tomita et al. (1998)</a> identified human and mouse DPM1 cDNAs. The predicted 260-amino acid human protein shares approximately 30% identity with yeast dpm1. However, DPM1 lacks the C-terminal transmembrane domain found in dpm1 and does not contain a signal sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9535917" 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>Independently, <a href="#1" class="mim-tip-reference" title="Colussi, P. A., Taron, C. H., Mack, J. C., Orlean, P. <strong>Human and Saccharomyces cerevisiae dolichol phosphate mannose synthases represent two classes of the enzyme, but both function in Schizosaccharomyces pombe.</strong> Proc. Nat. Acad. Sci. 94: 7873-7878, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9223280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9223280</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9223280[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/10.1073/pnas.94.15.7873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9223280">Colussi et al. (1997)</a> cloned human, rat, nematode, and S. pombe DPM1 cDNAs. They reported that the predicted human and rat proteins are 93% identical. Sequence analysis indicated that the human, S. pombe, and nematode DPM1 proteins lack the hydrophobic C-terminal domain found in S. cerevisiae dpm1. However, both human and S. cerevisiae DPM1 complemented the lethal S. pombe dpm1+ mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9223280" 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>Mouse Thy1 (<a href="/entry/188230">188230</a>)-negative thymoma mutant cells of complementation class E do not synthesize Dol-P-Man and consequently do not synthesize the glycosylphosphatidylinositol (GPI) core, resulting in the defective surface expression of GPI-anchored proteins, such as Thy1. <a href="#8" class="mim-tip-reference" title="Tomita, S., Inoue, N., Maeda, Y., Ohishi, K., Takeda, J., Kinoshita, T. <strong>A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells.</strong> J. Biol. Chem. 273: 9249-9254, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9535917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9535917</a>] [<a href="https://doi.org/10.1074/jbc.273.15.9249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9535917">Tomita et al. (1998)</a> found that expression of DPM1 in class E mutant mouse cells completely restored surface expression of Thy1, and sequence analysis revealed that the mutant cells have an inactivating mutation in the murine Dpm1 gene. However, the mammalian DPM1 cDNAs did not complement another Dol-P-Man synthesis mutant, hamster Lec15 cells, whereas yeast dpm1 restored both class E and Lec15 cells. <a href="#8" class="mim-tip-reference" title="Tomita, S., Inoue, N., Maeda, Y., Ohishi, K., Takeda, J., Kinoshita, T. <strong>A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells.</strong> J. Biol. Chem. 273: 9249-9254, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9535917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9535917</a>] [<a href="https://doi.org/10.1074/jbc.273.15.9249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9535917">Tomita et al. (1998)</a> concluded that mammalian cells require DPM1 and an additional protein for synthesis of Dol-P-Man. See DPM2 (<a href="/entry/603564">603564</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9535917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Maeda, Y., Tanaka, S., Hino, J., Kangawa, K., Kinoshita, T. <strong>Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.</strong> EMBO J. 19: 2475-2482, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835346</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10835346[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/10.1093/emboj/19.11.2475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10835346">Maeda et al. (2000)</a> purified human Dol-P-Man synthase and demonstrated that the enzyme is a protein complex with 3 subunits, DPM1, DPM2, and DPM3 (<a href="/entry/605951">605951</a>). They concluded that DPM1 is stabilized by an association with the C-terminal domain of DPM3, which is stabilized by an association with DPM2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10835346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 unrelated patients with congenital disorder of glycosylation Ie (<a href="/entry/608799">608799</a>), <a href="#6" class="mim-tip-reference" title="Kim, S., Westphal, V., Srikrishna, G., Mehta, D. P., Peterson, S., Filiano, J., Karnes, P. S., Patterson, M. C., Freeze, H. H. <strong>Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie).</strong> J. Clin. Invest. 105: 191-198, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10642597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10642597</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10642597[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI7302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10642597">Kim et al. (2000)</a> identified mutations in the DPM1 gene (<a href="#0001">603503.0001</a>; <a href="#0002">603503.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10642597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sibs with CDG Ie, <a href="#5" class="mim-tip-reference" title="Imbach, T., Schenk, B., Schollen, E., Burda, P., Stutz, A., Grunewald, S., Bailie, N. M., King, M. D., Jaeken, J., Matthijs, G., Berger, E. G., Aebi, M., Hennet, T. <strong>Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.</strong> J. Clin. Invest. 105: 233-239, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10642602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10642602</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10642602[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI8691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10642602">Imbach et al. (2000)</a> identified compound heterozygosity for 2 mutations in the DPM1 gene (<a href="#0001">603503.0001</a>; <a href="#0003">603503.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10642602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Garcia-Silva, M. T., Matthijs, G., Schollen, E., Cabrera, J. C., Sanchez del Pozo, J., Marti Herreros, M., Simon, R., Maties, M., Martin Hernandez, E., Hennet, T., Briones, P. <strong>Congenital disorder of glycosylation (CDG) type Ie: a new patient.</strong> J. Inherit. Metab. Dis. 27: 591-600, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15669674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15669674</a>] [<a href="https://doi.org/10.1023/b:boli.0000042984.42433.d8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15669674">Garcia-Silva et al. (2004)</a> identified a homozygous missense mutation in the DPM1 gene (<a href="#0004">603503.0004</a>) in a girl with a relatively mild form of CDG Ie. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15669674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sibs, born of consanguineous Algerian parents, with CDG Ie, <a href="#2" class="mim-tip-reference" title="Dancourt, J., Vuillaumier-Barrot, S., de Baulny, H. O., Sfaello, I., Barnier, A., le Bizec, C., Dupre, T., Durand, G., Seta, N., Moore, S. E. H. <strong>A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.</strong> Pediat. Res. 59: 835-839, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16641202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16641202</a>] [<a href="https://doi.org/10.1203/01.pdr.0000219430.52532.8e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16641202">Dancourt et al. (2006)</a> identified a homozygous splice site mutation in the DPM1 gene (<a href="#0005">603503.0005</a>). Each unaffected parent was heterozygous for the mutation. Patient cells showed only 8% residual enzyme activity and a more than 90% reduction in DPM1 transcript levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16641202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a boy with CDG type Ie, <a href="#9" class="mim-tip-reference" title="Yang, A. C., Ng, B. G., Moore, S. A., Rush, J., Waechter, C. J., Raymond, K. M., Willer, T., Campbell, K. P., Freeze, H. H., Mehta, L. <strong>Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.</strong> Molec. Genet. Metab. 110: 345-351, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23856421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23856421</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23856421[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.ymgme.2013.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23856421">Yang et al. (2013)</a> identified compound heterozygous mutations in the DPM1 gene (<a href="#0006">603503.0006</a>-<a href="#0007">603503.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23856421" 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> rs121908583 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908583;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/rs121908583?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=rs121908583" 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=rs121908583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with congenital disorder of glycosylation type Ie (CDG1E; <a href="/entry/608799">608799</a>), <a href="#6" class="mim-tip-reference" title="Kim, S., Westphal, V., Srikrishna, G., Mehta, D. P., Peterson, S., Filiano, J., Karnes, P. S., Patterson, M. C., Freeze, H. H. <strong>Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie).</strong> J. Clin. Invest. 105: 191-198, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10642597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10642597</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10642597[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI7302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10642597">Kim et al. (2000)</a> identified a homozygous 274C-G transversion in the DPM1 gene, resulting in an arg92-to-gly (R92G) substitution. Another unrelated patient was compound heterozygous for the R92G mutation and a 13-bp deletion (<a href="#0002">603503.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10642597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a brother and sister, <a href="#5" class="mim-tip-reference" title="Imbach, T., Schenk, B., Schollen, E., Burda, P., Stutz, A., Grunewald, S., Bailie, N. M., King, M. D., Jaeken, J., Matthijs, G., Berger, E. G., Aebi, M., Hennet, T. <strong>Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.</strong> J. Clin. Invest. 105: 233-239, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10642602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10642602</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10642602[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI8691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10642602">Imbach et al. (2000)</a> described features of a congenital disorder of glycosylation due to compound heterozygosity for the R92G mutation and a 628C deletion (<a href="#0003">603503.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10642602" 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> rs1272097668 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1272097668;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/rs1272097668?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=rs1272097668" 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=rs1272097668" 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=RCV000691834 OR RCV002544923 OR RCV003480775" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000691834, RCV002544923, RCV003480775" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000691834...</a>
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<p>In an infant with congenital disorder of glycosylation type Ie (CDG1E; <a href="/entry/608799">608799</a>), <a href="#6" class="mim-tip-reference" title="Kim, S., Westphal, V., Srikrishna, G., Mehta, D. P., Peterson, S., Filiano, J., Karnes, P. S., Patterson, M. C., Freeze, H. H. <strong>Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie).</strong> J. Clin. Invest. 105: 191-198, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10642597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10642597</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10642597[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI7302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10642597">Kim et al. (2000)</a> found compound heterozygosity for the R92G mutation (<a href="#0001">603503.0001</a>) and a 13-bp deletion in exon 4 resulting in loss of nucleotides 331-343 at the cDNA level. The predicted translated product resulting from the deletion encodes the first 110 amino acids of the 260-amino acid protein followed by 44 random amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10642597" 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">rs1568757730 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1568757730;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1568757730" 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=rs1568757730" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a brother and sister with congenital disorder of glycosylation type Ie (CDG1E; <a href="/entry/608799">608799</a>), <a href="#5" class="mim-tip-reference" title="Imbach, T., Schenk, B., Schollen, E., Burda, P., Stutz, A., Grunewald, S., Bailie, N. M., King, M. D., Jaeken, J., Matthijs, G., Berger, E. G., Aebi, M., Hennet, T. <strong>Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.</strong> J. Clin. Invest. 105: 233-239, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10642602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10642602</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10642602[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI8691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10642602">Imbach et al. (2000)</a> identified compound heterozygosity for 2 mutations in the DPM1 gene: a 1-bp deletion (628C) and R92G (<a href="#0001">603503.0001</a>). These mutations were found in heterozygous state in the mother and father, respectively. The deletion resulted in the premature stop of the translation at position 640 (codon 213). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10642602" 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">rs587777114 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777114;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777114" 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=rs587777114" 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=RCV000087034" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087034" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087034</a>
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<p>In a 9-year-old girl, born of consanguineous parents, with congenital disorder of glycosylation type Ie (CDG1E; <a href="/entry/608799">608799</a>), <a href="#4" class="mim-tip-reference" title="Garcia-Silva, M. T., Matthijs, G., Schollen, E., Cabrera, J. C., Sanchez del Pozo, J., Marti Herreros, M., Simon, R., Maties, M., Martin Hernandez, E., Hennet, T., Briones, P. <strong>Congenital disorder of glycosylation (CDG) type Ie: a new patient.</strong> J. Inherit. Metab. Dis. 27: 591-600, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15669674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15669674</a>] [<a href="https://doi.org/10.1023/b:boli.0000042984.42433.d8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15669674">Garcia-Silva et al. (2004)</a> identified a homozygous c.742T-C transition in exon 9 of the DPM1 gene, resulting in a ser248-to-pro (S248P) substitution at a partially conserved residue. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15669674" 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">rs587777115 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777115;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777115" 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=rs587777115" 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=RCV000087035" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087035" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087035</a>
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<p>In 2 sibs, born of consanguineous Algerian parents, with congenital disorder of glycosylation type Ie (CDG1E; <a href="/entry/608799">608799</a>), <a href="#2" class="mim-tip-reference" title="Dancourt, J., Vuillaumier-Barrot, S., de Baulny, H. O., Sfaello, I., Barnier, A., le Bizec, C., Dupre, T., Durand, G., Seta, N., Moore, S. E. H. <strong>A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.</strong> Pediat. Res. 59: 835-839, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16641202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16641202</a>] [<a href="https://doi.org/10.1203/01.pdr.0000219430.52532.8e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16641202">Dancourt et al. (2006)</a> identified a homozygous T-to-A transversion in intron 4 of the DPM1 gene, resulting in the skipping of exon 5 and premature termination. Each unaffected parent was heterozygous for the mutation. Patient cells showed only 8% residual enzyme activity and a more than 90% reduction in DPM1 transcript levels, although some normal transcripts were produced, suggesting that the exon skipping is leaky and that patient cells may retain some residual activity. In addition, levels of DPM2 (<a href="/entry/603564">603564</a>) were decreased by 42%. The sibs had severely delayed psychomotor development, acquired microcephaly, hypotonia, cerebellar ataxia, tremor, and nystagmus; dysmorphic features and severe epilepsy were not present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16641202" 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> rs587777116 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777116;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/rs587777116?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=rs587777116" 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=rs587777116" 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=RCV000087036 OR RCV003148647" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087036, RCV003148647" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087036...</a>
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<p>In a boy with congenital disorder of glycosylation type Ie (CDG1E; <a href="/entry/608799">608799</a>), <a href="#9" class="mim-tip-reference" title="Yang, A. C., Ng, B. G., Moore, S. A., Rush, J., Waechter, C. J., Raymond, K. M., Willer, T., Campbell, K. P., Freeze, H. H., Mehta, L. <strong>Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.</strong> Molec. Genet. Metab. 110: 345-351, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23856421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23856421</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23856421[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.ymgme.2013.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23856421">Yang et al. (2013)</a> identified compound heterozygous mutations in the DPM1 gene: a c.455G-T transversion, resulting in a gly152-to-val (G152V) substitution at a highly conserved residue, and a 100-kb intragenic deletion spanning exons 3 to 7 (<a href="#0007">603503.0007</a>). The G152V variant was inherited from the unaffected father. Neither variant was found in the dbSNP or Exome Sequencing Project databases. Patient fibroblast membranes showed an 80% deficiency in DPM1 activity compared to wildtype with a decrease in Vmax. Transfection of the mutation into HEK293 cells showed that the mutant protein was unable to associate with DPM3 (<a href="/entry/605951">605951</a>). The child had a combined defect of N-glycosylation and O-mannosylation, and showed delayed psychomotor development, seizures, and liver abnormalities as well as muscular dystrophy similar to a dystroglycanopathy (see, e.g., <a href="/entry/236670">236670</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23856421" 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>.0007 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000087037" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087037" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087037</a>
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<p>For discussion of the 100-kb deletion in the DPM1 gene that was found in a patient with congenital disorder of glycosylation type Ie (CDG1E; <a href="/entry/608799">608799</a>) by <a href="#9" class="mim-tip-reference" title="Yang, A. C., Ng, B. G., Moore, S. A., Rush, J., Waechter, C. J., Raymond, K. M., Willer, T., Campbell, K. P., Freeze, H. H., Mehta, L. <strong>Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.</strong> Molec. Genet. Metab. 110: 345-351, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23856421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23856421</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23856421[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.ymgme.2013.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23856421">Yang et al. (2013)</a>, see <a href="#0006">603503.0006</a>. This intragenic deletion would result in a 302-bp deletion in the transcript. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23856421" 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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Colussi, P. A., Taron, C. H., Mack, J. C., Orlean, P.
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<strong>Human and Saccharomyces cerevisiae dolichol phosphate mannose synthases represent two classes of the enzyme, but both function in Schizosaccharomyces pombe.</strong>
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Proc. Nat. Acad. Sci. 94: 7873-7878, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9223280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9223280</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9223280[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=9223280" 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/10.1073/pnas.94.15.7873" target="_blank">Full Text</a>]
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Dancourt, J., Vuillaumier-Barrot, S., de Baulny, H. O., Sfaello, I., Barnier, A., le Bizec, C., Dupre, T., Durand, G., Seta, N., Moore, S. E. H.
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<strong>A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.</strong>
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Pediat. Res. 59: 835-839, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16641202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16641202</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16641202" 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/10.1203/01.pdr.0000219430.52532.8e" target="_blank">Full Text</a>]
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Dickinson2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
|
|
<strong>High-throughput discovery of novel developmental phenotypes.</strong>
|
|
Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature19356" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Garcia-Silva2004" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Garcia-Silva, M. T., Matthijs, G., Schollen, E., Cabrera, J. C., Sanchez del Pozo, J., Marti Herreros, M., Simon, R., Maties, M., Martin Hernandez, E., Hennet, T., Briones, P.
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|
<strong>Congenital disorder of glycosylation (CDG) type Ie: a new patient.</strong>
|
|
J. Inherit. Metab. Dis. 27: 591-600, 2004.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15669674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15669674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15669674" 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/10.1023/b:boli.0000042984.42433.d8" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Imbach2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Imbach, T., Schenk, B., Schollen, E., Burda, P., Stutz, A., Grunewald, S., Bailie, N. M., King, M. D., Jaeken, J., Matthijs, G., Berger, E. G., Aebi, M., Hennet, T.
|
|
<strong>Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.</strong>
|
|
J. Clin. Invest. 105: 233-239, 2000.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10642602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10642602</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10642602[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=10642602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI8691" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Kim2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kim, S., Westphal, V., Srikrishna, G., Mehta, D. P., Peterson, S., Filiano, J., Karnes, P. S., Patterson, M. C., Freeze, H. H.
|
|
<strong>Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie).</strong>
|
|
J. Clin. Invest. 105: 191-198, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10642597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10642597</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10642597[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=10642597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI7302" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Maeda2000" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Maeda, Y., Tanaka, S., Hino, J., Kangawa, K., Kinoshita, T.
|
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<strong>Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.</strong>
|
|
EMBO J. 19: 2475-2482, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835346</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10835346[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=10835346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/emboj/19.11.2475" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Tomita1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tomita, S., Inoue, N., Maeda, Y., Ohishi, K., Takeda, J., Kinoshita, T.
|
|
<strong>A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells.</strong>
|
|
J. Biol. Chem. 273: 9249-9254, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9535917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9535917</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9535917" 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.273.15.9249" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Yang2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yang, A. C., Ng, B. G., Moore, S. A., Rush, J., Waechter, C. J., Raymond, K. M., Willer, T., Campbell, K. P., Freeze, H. H., Mehta, L.
|
|
<strong>Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.</strong>
|
|
Molec. Genet. Metab. 110: 345-351, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23856421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23856421</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23856421[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=23856421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2013.06.016" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/16/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/10/2014<br>Dawn Watkins-Chow - updated : 5/18/2001<br>Hudson H. Freeze - reviewed : 2/17/2000<br>Victor A. McKusick - updated : 2/10/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Rebekah S. Rasooly : 2/9/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/01/2018
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/04/2017<br>alopez : 02/16/2017<br>mcolton : 06/26/2015<br>alopez : 2/19/2014<br>mcolton : 2/18/2014<br>ckniffin : 2/10/2014<br>joanna : 1/13/2011<br>carol : 7/22/2004<br>ckniffin : 7/13/2004<br>carol : 7/6/2004<br>carol : 3/17/2004<br>carol : 12/9/2003<br>mgross : 12/10/2002<br>carol : 7/3/2002<br>mgross : 5/21/2001<br>terry : 5/18/2001<br>carol : 3/1/2000<br>carol : 2/17/2000<br>carol : 2/16/2000<br>terry : 2/10/2000<br>jlewis : 7/22/1999<br>psherman : 2/24/1999<br>psherman : 2/19/1999<br>psherman : 2/19/1999<br>alopez : 2/9/1999
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603503
|
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 1, CATALYTIC SUBUNIT; DPM1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE 1<br />
|
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DOLICHOL-PHOSPHATE-MANNOSE SYNTHASE 1<br />
|
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MPD SYNTHASE; MPDS
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DPM1</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>SNOMEDCT:</strong> 725078006;
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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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<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: 20q13.13
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Genomic coordinates <span class="small">(GRCh38)</span> : 20:50,934,855-50,958,564 </span>
|
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</em>
|
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</strong>
|
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<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
20q13.13
|
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</span>
|
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</td>
|
|
|
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<td>
|
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<span class="mim-font">
|
|
Congenital disorder of glycosylation, type Ie
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
608799
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<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>TEXT</strong>
|
|
</span>
|
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</h4>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<span class="mim-text-font">
|
|
<p>The DPM1 gene encodes the cytoplasmic catalytic subunit of dolichol-phosphate-mannose synthase (EC 2.4.1.83), an enzyme complex that synthesizes dolichol-phosphate-mannose (Dol-P-Man) from GDP-mannose and dolichol-phosphate. DPM2 (603564) and DPM3 (605951) are integral endoplasmic reticulum membrane proteins that stabilize the complex. Dol-P-Man serves as a donor of mannosyl residues in various eukaryotic glycosylation processes, including N-glycosylation of asparagine residues and O-mannosylation of alpha-dystroglycan (DAG1; 128239) (summary by Garcia-Silva et al., 2004 and Yang et al., 2013). </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The S. cerevisiae dpm1 gene encodes a Dol-P-Man synthase that is a transmembrane protein expressed in the endoplasmic reticulum. By searching an EST database for homologs of yeast dpm1, Tomita et al. (1998) identified human and mouse DPM1 cDNAs. The predicted 260-amino acid human protein shares approximately 30% identity with yeast dpm1. However, DPM1 lacks the C-terminal transmembrane domain found in dpm1 and does not contain a signal sequence. </p><p>Independently, Colussi et al. (1997) cloned human, rat, nematode, and S. pombe DPM1 cDNAs. They reported that the predicted human and rat proteins are 93% identical. Sequence analysis indicated that the human, S. pombe, and nematode DPM1 proteins lack the hydrophobic C-terminal domain found in S. cerevisiae dpm1. However, both human and S. cerevisiae DPM1 complemented the lethal S. pombe dpm1+ mutation. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Mouse Thy1 (188230)-negative thymoma mutant cells of complementation class E do not synthesize Dol-P-Man and consequently do not synthesize the glycosylphosphatidylinositol (GPI) core, resulting in the defective surface expression of GPI-anchored proteins, such as Thy1. Tomita et al. (1998) found that expression of DPM1 in class E mutant mouse cells completely restored surface expression of Thy1, and sequence analysis revealed that the mutant cells have an inactivating mutation in the murine Dpm1 gene. However, the mammalian DPM1 cDNAs did not complement another Dol-P-Man synthesis mutant, hamster Lec15 cells, whereas yeast dpm1 restored both class E and Lec15 cells. Tomita et al. (1998) concluded that mammalian cells require DPM1 and an additional protein for synthesis of Dol-P-Man. See DPM2 (603564). </p><p>Maeda et al. (2000) purified human Dol-P-Man synthase and demonstrated that the enzyme is a protein complex with 3 subunits, DPM1, DPM2, and DPM3 (605951). They concluded that DPM1 is stabilized by an association with the C-terminal domain of DPM3, which is stabilized by an association with DPM2. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 2 unrelated patients with congenital disorder of glycosylation Ie (608799), Kim et al. (2000) identified mutations in the DPM1 gene (603503.0001; 603503.0002). </p><p>In 2 sibs with CDG Ie, Imbach et al. (2000) identified compound heterozygosity for 2 mutations in the DPM1 gene (603503.0001; 603503.0003). </p><p>Garcia-Silva et al. (2004) identified a homozygous missense mutation in the DPM1 gene (603503.0004) in a girl with a relatively mild form of CDG Ie. </p><p>In 2 sibs, born of consanguineous Algerian parents, with CDG Ie, Dancourt et al. (2006) identified a homozygous splice site mutation in the DPM1 gene (603503.0005). Each unaffected parent was heterozygous for the mutation. Patient cells showed only 8% residual enzyme activity and a more than 90% reduction in DPM1 transcript levels. </p><p>In a boy with CDG type Ie, Yang et al. (2013) identified compound heterozygous mutations in the DPM1 gene (603503.0006-603503.0007). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human DPM1 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DPM1, ARG92GLY
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<br />
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SNP: rs121908583,
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gnomAD: rs121908583,
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ClinVar: RCV000006676, RCV004719630, RCV004757948
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a patient with congenital disorder of glycosylation type Ie (CDG1E; 608799), Kim et al. (2000) identified a homozygous 274C-G transversion in the DPM1 gene, resulting in an arg92-to-gly (R92G) substitution. Another unrelated patient was compound heterozygous for the R92G mutation and a 13-bp deletion (603503.0002). </p><p>In a brother and sister, Imbach et al. (2000) described features of a congenital disorder of glycosylation due to compound heterozygosity for the R92G mutation and a 628C deletion (603503.0003). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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|
<span class="mim-font">
|
|
<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DPM1, 13-BP DEL
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<br />
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SNP: rs1272097668,
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gnomAD: rs1272097668,
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|
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ClinVar: RCV000691834, RCV002544923, RCV003480775
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</span>
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|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an infant with congenital disorder of glycosylation type Ie (CDG1E; 608799), Kim et al. (2000) found compound heterozygosity for the R92G mutation (603503.0001) and a 13-bp deletion in exon 4 resulting in loss of nucleotides 331-343 at the cDNA level. The predicted translated product resulting from the deletion encodes the first 110 amino acids of the 260-amino acid protein followed by 44 random amino acids. </p>
|
|
</span>
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</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
DPM1, 1-BP DEL, 628C
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<br />
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SNP: rs1568757730,
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|
|
ClinVar: RCV000006678
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|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a brother and sister with congenital disorder of glycosylation type Ie (CDG1E; 608799), Imbach et al. (2000) identified compound heterozygosity for 2 mutations in the DPM1 gene: a 1-bp deletion (628C) and R92G (603503.0001). These mutations were found in heterozygous state in the mother and father, respectively. The deletion resulted in the premature stop of the translation at position 640 (codon 213). </p>
|
|
</span>
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</div>
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<div>
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|
<br />
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|
</div>
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</div>
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<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DPM1, SER248PRO
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|
|
<br />
|
|
|
|
SNP: rs587777114,
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|
|
|
|
|
|
|
ClinVar: RCV000087034
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old girl, born of consanguineous parents, with congenital disorder of glycosylation type Ie (CDG1E; 608799), Garcia-Silva et al. (2004) identified a homozygous c.742T-C transition in exon 9 of the DPM1 gene, resulting in a ser248-to-pro (S248P) substitution at a partially conserved residue. Functional studies of the variant were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DPM1, IVS4AS, T-A, -5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777115,
|
|
|
|
|
|
|
|
ClinVar: RCV000087035
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs, born of consanguineous Algerian parents, with congenital disorder of glycosylation type Ie (CDG1E; 608799), Dancourt et al. (2006) identified a homozygous T-to-A transversion in intron 4 of the DPM1 gene, resulting in the skipping of exon 5 and premature termination. Each unaffected parent was heterozygous for the mutation. Patient cells showed only 8% residual enzyme activity and a more than 90% reduction in DPM1 transcript levels, although some normal transcripts were produced, suggesting that the exon skipping is leaky and that patient cells may retain some residual activity. In addition, levels of DPM2 (603564) were decreased by 42%. The sibs had severely delayed psychomotor development, acquired microcephaly, hypotonia, cerebellar ataxia, tremor, and nystagmus; dysmorphic features and severe epilepsy were not present. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DPM1, GLY152VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777116,
|
|
|
|
|
|
gnomAD: rs587777116,
|
|
|
|
|
|
ClinVar: RCV000087036, RCV003148647
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with congenital disorder of glycosylation type Ie (CDG1E; 608799), Yang et al. (2013) identified compound heterozygous mutations in the DPM1 gene: a c.455G-T transversion, resulting in a gly152-to-val (G152V) substitution at a highly conserved residue, and a 100-kb intragenic deletion spanning exons 3 to 7 (603503.0007). The G152V variant was inherited from the unaffected father. Neither variant was found in the dbSNP or Exome Sequencing Project databases. Patient fibroblast membranes showed an 80% deficiency in DPM1 activity compared to wildtype with a decrease in Vmax. Transfection of the mutation into HEK293 cells showed that the mutant protein was unable to associate with DPM3 (605951). The child had a combined defect of N-glycosylation and O-mannosylation, and showed delayed psychomotor development, seizures, and liver abnormalities as well as muscular dystrophy similar to a dystroglycanopathy (see, e.g., 236670). </p>
|
|
</span>
|
|
</div>
|
|
|
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|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DPM1, 100-KB DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000087037
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 100-kb deletion in the DPM1 gene that was found in a patient with congenital disorder of glycosylation type Ie (CDG1E; 608799) by Yang et al. (2013), see 603503.0006. This intragenic deletion would result in a 302-bp deletion in the transcript. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
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|
</div>
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|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Colussi, P. A., Taron, C. H., Mack, J. C., Orlean, P.
|
|
<strong>Human and Saccharomyces cerevisiae dolichol phosphate mannose synthases represent two classes of the enzyme, but both function in Schizosaccharomyces pombe.</strong>
|
|
Proc. Nat. Acad. Sci. 94: 7873-7878, 1997.
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|
|
[PubMed: 9223280]
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[Full Text: https://doi.org/10.1073/pnas.94.15.7873]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Dancourt, J., Vuillaumier-Barrot, S., de Baulny, H. O., Sfaello, I., Barnier, A., le Bizec, C., Dupre, T., Durand, G., Seta, N., Moore, S. E. H.
|
|
<strong>A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.</strong>
|
|
Pediat. Res. 59: 835-839, 2006.
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|
|
[PubMed: 16641202]
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[Full Text: https://doi.org/10.1203/01.pdr.0000219430.52532.8e]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
|
|
<strong>High-throughput discovery of novel developmental phenotypes.</strong>
|
|
Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
|
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|
|
[PubMed: 27626380]
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[Full Text: https://doi.org/10.1038/nature19356]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Garcia-Silva, M. T., Matthijs, G., Schollen, E., Cabrera, J. C., Sanchez del Pozo, J., Marti Herreros, M., Simon, R., Maties, M., Martin Hernandez, E., Hennet, T., Briones, P.
|
|
<strong>Congenital disorder of glycosylation (CDG) type Ie: a new patient.</strong>
|
|
J. Inherit. Metab. Dis. 27: 591-600, 2004.
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|
|
[PubMed: 15669674]
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[Full Text: https://doi.org/10.1023/b:boli.0000042984.42433.d8]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Imbach, T., Schenk, B., Schollen, E., Burda, P., Stutz, A., Grunewald, S., Bailie, N. M., King, M. D., Jaeken, J., Matthijs, G., Berger, E. G., Aebi, M., Hennet, T.
|
|
<strong>Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.</strong>
|
|
J. Clin. Invest. 105: 233-239, 2000.
|
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|
|
[PubMed: 10642602]
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|
|
[Full Text: https://doi.org/10.1172/JCI8691]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kim, S., Westphal, V., Srikrishna, G., Mehta, D. P., Peterson, S., Filiano, J., Karnes, P. S., Patterson, M. C., Freeze, H. H.
|
|
<strong>Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie).</strong>
|
|
J. Clin. Invest. 105: 191-198, 2000.
|
|
|
|
|
|
[PubMed: 10642597]
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|
[Full Text: https://doi.org/10.1172/JCI7302]
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Maeda, Y., Tanaka, S., Hino, J., Kangawa, K., Kinoshita, T.
|
|
<strong>Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.</strong>
|
|
EMBO J. 19: 2475-2482, 2000.
|
|
|
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|
|
[PubMed: 10835346]
|
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[Full Text: https://doi.org/10.1093/emboj/19.11.2475]
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Tomita, S., Inoue, N., Maeda, Y., Ohishi, K., Takeda, J., Kinoshita, T.
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<strong>A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells.</strong>
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J. Biol. Chem. 273: 9249-9254, 1998.
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[PubMed: 9535917]
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[Full Text: https://doi.org/10.1074/jbc.273.15.9249]
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Yang, A. C., Ng, B. G., Moore, S. A., Rush, J., Waechter, C. J., Raymond, K. M., Willer, T., Campbell, K. P., Freeze, H. H., Mehta, L.
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<strong>Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.</strong>
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Molec. Genet. Metab. 110: 345-351, 2013.
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[PubMed: 23856421]
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[Full Text: https://doi.org/10.1016/j.ymgme.2013.06.016]
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Ada Hamosh - updated : 02/16/2017<br>Cassandra L. Kniffin - updated : 2/10/2014<br>Dawn Watkins-Chow - updated : 5/18/2001<br>Hudson H. Freeze - reviewed : 2/17/2000<br>Victor A. McKusick - updated : 2/10/2000
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Rebekah S. Rasooly : 2/9/1999
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