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<title>
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Entry
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- *191350 - DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINE PHOSPHOTRANSFERASE; DPAGT1
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- OMIM
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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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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<div class="row">
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<p>
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<span class="h4">*191350</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 role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/191350">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 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=ENSG00000172269;t=ENST00000354202" 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=1798" 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=191350" 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=ENSG00000172269;t=ENST00000354202" 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_001382,XM_005271422,XM_011542648,XM_017017294,XM_017017295,XM_047426508,XM_047426509,XM_047426510" 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_001382" 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=191350" 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=01879&isoform_id=01879_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/DPAGT1" 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/2239119,12002052,12653117,18202943,28838623,30582443,42794009,119587856,119587857,119587858,119587859,189053480,193785907,194378044,530397826,767969706,1034572276,1034572278,2217281539,2217281542,2217281544,2462523457,2462523459,2462523461,2462523463,2462523465,2462523467,2462523469" 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/Q9H3H5" 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=1798" 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=ENSG00000172269;t=ENST00000354202" 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=DPAGT1" 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=DPAGT1" 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+1798" 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/DPAGT1" 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:1798" 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/1798" 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=chr11&hgg_gene=ENST00000354202.9&hgg_start=119093874&hgg_end=119101853&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:2995" 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:2995" 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=191350[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=191350[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000172269" 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=DPAGT1" 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=DPAGT1" 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=DPAGT1" 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=DPAGT1&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/PA27460" 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:2995" 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/FBgn0032477.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:1196396" 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/DPAGT1#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:1196396" 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/1798/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=1798" 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=WBGene00013362;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-060526-18" 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:191350" 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:1798" 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=DPAGT1&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> 725079003<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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191350
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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 N-ACETYLGLUCOSAMINE PHOSPHOTRANSFERASE; DPAGT1
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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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UDP-GlcNAc:DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINEPHOSPHOTRANSFERASE<br />
|
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DPAGT2<br />
|
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GlcNAc-1-P TRANSFERASE
|
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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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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=DPAGT1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DPAGT1</a></em></strong>
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Cytogenetic location: <a href="/geneMap/11/1005?start=-3&limit=10&highlight=1005">11q23.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:119093874-119101853&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">11:119,093,874-119,101,853</a> </span>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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<strong>Gene-Phenotype Relationships</strong>
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Phenotype
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View Clinical Synopses
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Phenotype <br /> MIM number
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Inheritance
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11q23.3
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Congenital disorder of glycosylation, type Ij
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<a href="/entry/608093"> 608093 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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Myasthenic syndrome, congenital, 13, with tubular aggregates
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<a href="/entry/614750"> 614750 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/191350" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/191350" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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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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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<p>N-linked glycosylation is initiated in all eukaryotic cells with the synthesis of lipid-linked oligosaccharides in a cyclic pathway, the dolichol cycle. DPAGT1 (<a href="https://enzyme.expasy.org/EC/2.7.8.15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.7.8.15</a>) catalyzes the first step in the dolichol cycle, the synthesis of N-acetylglucosaminyl-pyrophosphoryldolichol (GlcNAc-PP-dolichol) from dolichol phosphate and UDP-GlcNAc, and can be inhibited by the antibiotic tunicamycin (<a href="#3" class="mim-tip-reference" title="Eckert, V., Blank, M., Mazhari-Tabrizi, R., Mumberg, D., Funk, M., Schwarz, R. T. <strong>Cloning and functional expression of the human GlcNAc-1-P transferase, the enzyme for the committed step of the dolichol cycle, by heterologous complementation in Saccharomyces cerevisiae.</strong> Glycobiology 8: 77-85, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9451016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9451016</a>] [<a href="https://doi.org/10.1093/glycob/8.1.77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9451016">Eckert et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9451016" 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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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<p><a href="#7" class="mim-tip-reference" title="Rajput, B., Ma, J., Muniappa, N., Schantz, L., Naylor, S. L., Lalley, P. A., Vijay, I. K. <strong>Mouse UDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferase: molecular cloning of the cDNA, generation of anti-peptide antibodies and chromosomal localization.</strong> Biochem. J. 285: 985-992, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1323278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1323278</a>] [<a href="https://doi.org/10.1042/bj2850985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1323278">Rajput et al. (1992)</a> isolated mRNA for the Dpagt1 protein from mouse mammary glands. The mouse cDNA recognized a single mRNA species of about 2 kb in mouse mammary glands when used as a probe in Northern blot analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1323278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Eckert, V., Blank, M., Mazhari-Tabrizi, R., Mumberg, D., Funk, M., Schwarz, R. T. <strong>Cloning and functional expression of the human GlcNAc-1-P transferase, the enzyme for the committed step of the dolichol cycle, by heterologous complementation in Saccharomyces cerevisiae.</strong> Glycobiology 8: 77-85, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9451016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9451016</a>] [<a href="https://doi.org/10.1093/glycob/8.1.77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9451016">Eckert et al. (1998)</a> cloned a human DPAGT1 cDNA from a human lung fibroblast cDNA library. The cDNA encodes a deduced 400-amino acid protein with a calculated molecular mass of 44.7 kD. DPAGT1 contains an N-terminal signal peptide, 2 potential dolichol-binding sequences, and 4 sites for N-glycosylation. It shares 93% amino acid homology with hamster Dpagt, including 100% identity in the dolichol-binding region, and 42% homology with S. cerevisiae GlcNAc-1-P transferase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9451016" 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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<a id="geneFunction" class="mim-anchor"></a>
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<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimGeneFunctionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Gene Function</strong>
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<span class="mim-text-font">
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<p>Protein asparagine-linked glycosylation is a multistep process that is divided into 2 stages. The first stage consists of the synthesis of the lipid-linked oligosaccharide precursor (LLO) and its en bloc transfer to nascent polypeptides in the lumen of the endoplasmic reticulum. This process requires at least 34 genes, of which DPAGT1 is the first. The second stage involves the processing of protein-bound oligosaccharides and requires at least an additional 20 genes to form a bi-antennary sugar chain typical of plasma glycoproteins. Genetic defects in some of these genes, including DPAGT1, cause severe multisystem disorders called congenital disorders of glycosylation (CDGs) (<a href="#4" class="mim-tip-reference" title="Freeze, H. H. <strong>Update and perspectives on congenital disorders of glycosylation.</strong> Glycobiology 11: 129R-143R, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11805072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11805072</a>]" pmid="11805072">Freeze, 2001</a>) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11805072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Eckert, V., Blank, M., Mazhari-Tabrizi, R., Mumberg, D., Funk, M., Schwarz, R. T. <strong>Cloning and functional expression of the human GlcNAc-1-P transferase, the enzyme for the committed step of the dolichol cycle, by heterologous complementation in Saccharomyces cerevisiae.</strong> Glycobiology 8: 77-85, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9451016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9451016</a>] [<a href="https://doi.org/10.1093/glycob/8.1.77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9451016">Eckert et al. (1998)</a> demonstrated that S. cerevisiae expressing recombinant DPAGT1 synthesized GlcNAc- and GlcNAc(2)-PP-dolichol. Expression of human DPAGT1 also complemented a conditional lethal S. cerevisiae strain defective for GlcNAc-1-P transferase. Expression of recombinant DPAGT1 from a multicopy expression vector also conferred a higher tolerance toward tunicamycin due to elevated enzyme synthesis, thus showing a gene dosage effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9451016" 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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<a id="biochemicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimBiochemicalFeaturesFold" id="mimBiochemicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimBiochemicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Biochemical Features</strong>
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<p><a href="#2" class="mim-tip-reference" title="Dong, Y. Y., Wang, H., Pike, A. C. W., Cochrane, S. A., Hamedzadeh, S., Wyszynski, F. J., Bushell, S. R., Royer, S. F., Widdick, D. A., Sajid, A., Boshoff, H. I., Park, Y., and 20 others. <strong>Structures of DPAGT1 explain glycosylation disease mechanisms and advance TB antibiotic design.</strong> Cell 175: 1045-1058, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30388443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30388443</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30388443[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.cell.2018.10.037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30388443">Dong et al. (2018)</a> determined the crystal structures of human DPAGT1 and DPAGT1 in complex with UDP-GlcNAc or tunicamycin at 3.1- to 3.6-angstrom resolution. DPAGT1 exists predominantly as a noncovalent dimer in solution, and dimerization is important for its stability. DPAGT1 consists of 10 transmembrane helices (TMHs) with both termini in the endoplasmic reticulum (ER) lumen. The active site is on the cytoplasmic face of the membrane, formed by 4 of the 5 cytoplasmic loops between the TMHs. Three loops are on the ER side of the membrane, and 1 is embedded in the membrane on the ER side. Formation of the DPAGT1-UDP-GlcNAc complex stabilizes the active site of DPAGT1. The authors determined that missense mutations in DPAGT1 alter DPAGT1 function via diverse mechanisms. Structural analysis of the DPAGT1-tunicamycin complex suggested that tunicamycin inhibits DPAGT1 through partial mimicry of the complex formed during catalysis between acceptor phospholipid Dol-P and UDP-GlcNAc. The authors designed semisynthetic and lipid-altered tunicamycin analogs that retained antimicrobial activity but no longer inhibited DPAGT1, thereby circumventing toxicity to eukaryotic cells. These tunicamycin analogs could reduce intracellular bacterial burdens with nanomolar antimicrobial potency and no signs of toxicity, providing leads for tuberculosis antibiotic development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30388443" 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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<br />
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<a id="mapping" class="mim-anchor"></a>
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<strong>Mapping</strong>
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<p>Using FISH and somatic cell hybrid analysis, <a href="#8" class="mim-tip-reference" title="Smith, M. W., Clark, S. P., Hutchinson, J. S., Wei, Y. H., Churukian, A. C., Daniels, L. B., Diggle, K. L., Gen, M. W., Romo, A. J., Lin, Y., Selleri, L., Mcelligott, D. L., Evans, G. A. <strong>A sequence-tagged site map of human chromosome 11.</strong> Genomics 17: 699-725, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244387</a>] [<a href="https://doi.org/10.1006/geno.1993.1392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244387">Smith et al. (1993)</a> mapped the DPAGT1 gene (D11S366) to chromosome 11q23.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a panel of mouse/hamster somatic cell hybrids and a specific probe derived from the 3-prime noncoding region of the mouse cDNA, <a href="#7" class="mim-tip-reference" title="Rajput, B., Ma, J., Muniappa, N., Schantz, L., Naylor, S. L., Lalley, P. A., Vijay, I. K. <strong>Mouse UDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferase: molecular cloning of the cDNA, generation of anti-peptide antibodies and chromosomal localization.</strong> Biochem. J. 285: 985-992, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1323278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1323278</a>] [<a href="https://doi.org/10.1042/bj2850985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1323278">Rajput et al. (1992)</a> mapped the mouse Dpagt1 gene to chromosome 17. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1323278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Marek, K. W., Vijay, I. K., Marth, J. D. <strong>A recessive deletion in the GlcNAc-1-phosphotransferase gene results in peri-implantation embryonic lethality.</strong> Glycobiology 9: 1263-1271, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10536042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10536042</a>] [<a href="https://doi.org/10.1093/glycob/9.11.1263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10536042">Marek et al. (1999)</a> found that Dpagt1-null mice died 4 to 5 days postfertilization, just after implantation, suggesting that DPAGT1 function and protein N-glycosylation are essential in early embryogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10536042" 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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In a patient with CDG Ij (CDGIJ; <a href="/entry/608093">608093</a>), <a href="#10" class="mim-tip-reference" title="Wu, X., Rush, J. S., Karaoglu, D., Krasnewich, D., Lubinsky, M. S., Waechter, C. J., Gilmore, R., Freeze, H. H. <strong>Deficiency of UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of glycosylation type Ij.</strong> Hum. Mutat. 22: 144-150, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12872255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12872255</a>] [<a href="https://doi.org/10.1002/humu.10239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12872255"> Wu et al. (2003)</a> identified a tyr170-to-cys mutation (Y170C; <a href="#0001">191350.0001</a>) in the DPAGT1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12872255" 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="#9" class="mim-tip-reference" title="Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuvel, L., Thiel, C., Wevers, R. A., Morava, E., Veltman, J., Lefeber, D. J. <strong>Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.</strong> Hum. Molec. Genet. 21: 4151-4161, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22492991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22492991</a>] [<a href="https://doi.org/10.1093/hmg/dds123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22492991">Timal et al. (2012)</a> identified compound heterozygosity for 2 mutations in the DPAGT1 gene (<a href="#0007">191350.0007</a> and <a href="#0008">191350.0008</a>) in a Caucasian boy with CDG Ij. The mutations were found by exome sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22492991" 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 Turkish parents, with severe CDG Ij, <a href="#11" class="mim-tip-reference" title="Wurde, A. E., Reunert, J., Rust, S., Hertzberg, C., Haverkamper, S., Nurnberg, G., Nurnberg, P., Lehle, L., Rossi, R., Marquardt, T. <strong>Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.</strong> Molec. Genet. Metab. 105: 634-641, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22304930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22304930</a>] [<a href="https://doi.org/10.1016/j.ymgme.2012.01.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22304930">Wurde et al. (2012)</a> identified a homozygous mutation in the DPAGT1 gene (A114G; <a href="#0009">191350.0009</a>). The mutation was found by homozygosity mapping followed by candidate gene sequencing. The unaffected parents were heterozygous for the mutation, which was not found in 100 control alleles of the same ethnic background. RT-PCR analysis of patient cells showed that the mutation also increased the amount of normal aberrant splicing seen in controls, resulting in the skipping of exons 2/3 and a truncated protein. In vitro functional expression assays showed decreased DPAGT1 activity, at 18% of normal values. The patients had a severe disorder characterized by hyperexcitability, intractable seizures, bilateral cataracts, nystagmus, strabismus, and progressive microcephaly. Both died within their first year of life from cardiorespiratory failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22304930" 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 Pakistani brother and sister, born of unrelated patients with a mild from of CDG Ij, <a href="#5" class="mim-tip-reference" title="Iqbal, Z., Shahzad, M., Vissers, L. E. L. M., van Scherpenzeel, M., Gilissen, C., Razzaq, A., Zahoor, M. Y., Khan, S. N., Kleefstra, T., Veltman, J. A., de Brouwer, A. P. M., Lefeber, D. J., van Bokhoven, H., Riazuddin, S. <strong>A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.</strong> Europ. J. Hum. Genet. 21: 844-849, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23249953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23249953</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23249953[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/10.1038/ejhg.2012.257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23249953">Iqbal et al. (2013)</a> identified compound heterozygous mutations in the DPAGT1 gene (I29F; <a href="#0010">191350.0010</a> and L168P; <a href="#0011">191350.0011</a>). The mutations were found by exome sequencing, confirmed by Sanger sequencing, segregated with the disorder, and occurred at highly conserved residues. Neither was present in over 200 ethnically matched chromosomes or in the dbSNP, 1000 Genomes Project, or Exome Variant Server databases. Functional studies of the variants were not performed. The patients had normal psychomotor development until ages 2 and 5 years, respectively, when they both developed seizures, hypotonia, and aggressive behavior. As adults, they had moderate intellectual disability, poor speech, aggressive behavior, hypotonia, seizures, and mild facial dysmorphic features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23249953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Congenital Myasthenic Syndrome 13</em></strong></p><p>
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In 5 patients from 4 families with congenital myasthenic syndrome-13 (CMS13; <a href="/entry/614750">614750</a>) with tubular aggregates, <a href="#1" class="mim-tip-reference" title="Belaya, K., Finlayson, S., Slater, C. R., Cossins, J., Liu, W. W., Maxwell, S., McGowan, S. J., Maslau, S., Twigg, S. R. F., Walls, T. J., Pascual Pascual, S. I., Palace, J., Beeson, D. <strong>Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.</strong> Am. J. Hum. Genet. 91: 193-201, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22742743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22742743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22742743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.05.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22742743">Belaya et al. (2012)</a> identified 7 different mutations in the DPAGT1 gene (see, e.g., <a href="#0002">191350.0002</a>-<a href="#0006">191350.0006</a>). All mutations were in the compound heterozygous state. The first 4 mutations were identified by exome sequencing of 2 unrelated patients and were confirmed by Sanger sequencing. The mutations segregated with the disorder in those families with available material. Analyses of motor endplates from 2 patients showed a severe reduction of endplate acetylcholine receptors (AChR). In vitro studies showed that DPAGT1 is required for efficient glycosylation of AChR subunits and for efficient export of AChR receptors to the cell surface. The findings demonstrated the importance of N-linked protein glycosylation for proper functioning of the neuromuscular junction, and suggested that the primary pathogenic mechanism of DPAGT1 mutations is reduced levels of AChR at the endplate region. Laboratory studies of 2 patients showed abnormal glycosylation of transferrin, consistent with a functional defect of DPAGT1. <a href="#1" class="mim-tip-reference" title="Belaya, K., Finlayson, S., Slater, C. R., Cossins, J., Liu, W. W., Maxwell, S., McGowan, S. J., Maslau, S., Twigg, S. R. F., Walls, T. J., Pascual Pascual, S. I., Palace, J., Beeson, D. <strong>Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.</strong> Am. J. Hum. Genet. 91: 193-201, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22742743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22742743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22742743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.05.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22742743">Belaya et al. (2012)</a> postulated that the defect in glycosylation of certain proteins may lead to misfolding and aggregation in the sarcoplasmic reticulum, resulting in formation of tubular aggregates within muscle tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22742743" 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> rs28934876 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28934876;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/rs28934876?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=rs28934876" 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=rs28934876" 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 central disorder of glycosylation type Ij (CDG1J; <a href="/entry/608093">608093</a>), <a href="#10" class="mim-tip-reference" title="Wu, X., Rush, J. S., Karaoglu, D., Krasnewich, D., Lubinsky, M. S., Waechter, C. J., Gilmore, R., Freeze, H. H. <strong>Deficiency of UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of glycosylation type Ij.</strong> Hum. Mutat. 22: 144-150, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12872255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12872255</a>] [<a href="https://doi.org/10.1002/humu.10239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12872255">Wu et al. (2003)</a> identified reduced DPAGT1 enzymatic activity; sequencing of genomic DNA and cDNAs of the DPAGT1 gene identified, in the paternal allele, a 660A-G transition in exon 5, resulting in a tyr170-to-cys (Y170C) mutation. Although no mutation was identified in the maternal allele, it produced only 12% of the normal amount of mature mRNA; the remainder showed a complex exon skipping pattern that shifted the reading frame and resulted in a truncated nonfunctional protein. The patient had developed infantile spasms at the age of 4 months within 72 hours of receiving DPT immunization. Development was significantly delayed in all aspects with microcephaly, arched palate, micrognathia, and exotropia. She also had fifth finger clinodactyly, single flexion creases of the hands, and skin dimples on the upper thighs. She had severe hypotonia and medically intractable seizures, and at 6 years of age had minimal speech. Abnormal isoelectric focusing pattern of serum transferrin was consistent with the diagnosis of type I CDG. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12872255" 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">rs387907243 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907243;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=rs387907243" 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=rs387907243" 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=RCV000030601 OR RCV001852609" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030601, RCV001852609" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030601...</a>
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<p>In a patient with congenital myasthenic syndrome-13 (CMS13; <a href="/entry/614750">614750</a>), <a href="#1" class="mim-tip-reference" title="Belaya, K., Finlayson, S., Slater, C. R., Cossins, J., Liu, W. W., Maxwell, S., McGowan, S. J., Maslau, S., Twigg, S. R. F., Walls, T. J., Pascual Pascual, S. I., Palace, J., Beeson, D. <strong>Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.</strong> Am. J. Hum. Genet. 91: 193-201, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22742743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22742743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22742743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.05.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22742743">Belaya et al. (2012)</a> identified compound heterozygosity for 2 mutations in the DPAGT1 gene: a 349G-A transition resulting in a val117-to-ile (V117I) substitution, and a 324G-C transversion resulting in a met108-to-ile (M108I; <a href="#0003">191350.0003</a>) substitution. Another patient was compound heterozygous for V117I and a 1-bp duplication (c.699dup; <a href="#0004">191350.0004</a>), resulting in a frameshift, premature termination (Thr234HisfsTer116), and nonsense-mediated mRNA decay. The mutations were found by exome sequencing and confirmed by Sanger sequencing. The 324G-C mutation was found in 2 (0.0186%) of 10,758 control alleles from the general population and 1 (0.0142%) of 7,020 alleles in the European American population. None of the other mutations were found in controls. The patients had onset at age 2.5 and 7 years, respectively, of difficulty walking due to proximal muscle weakness, and showed a favorable response to pyridostigmine. Muscle biopsy showed reduced levels of endplate acetylcholine receptors (AChR). In vitro functional expression studies showed that the c.699dup mutation was unable to restore normal levels of glycosylated AChR in HEK293 cells with DPAGT1 inhibition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22742743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 MYASTHENIC SYNDROME, CONGENITAL, 13</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs376039938 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs376039938;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/rs376039938?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=rs376039938" 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=rs376039938" 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=RCV000030602 OR RCV001224025 OR RCV003144114" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030602, RCV001224025, RCV003144114" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030602...</a>
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<p>For discussion of the met108-to-ile (M108I) mutation in the DPAGT1 gene that was found in compound heterozygous state in a patient with congenital myasthenic syndrome-13 (CMS13; <a href="/entry/614750">614750</a>) by <a href="#1" class="mim-tip-reference" title="Belaya, K., Finlayson, S., Slater, C. R., Cossins, J., Liu, W. W., Maxwell, S., McGowan, S. J., Maslau, S., Twigg, S. R. F., Walls, T. J., Pascual Pascual, S. I., Palace, J., Beeson, D. <strong>Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.</strong> Am. J. Hum. Genet. 91: 193-201, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22742743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22742743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22742743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.05.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22742743">Belaya et al. (2012)</a>, see <a href="#0002">191350.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22742743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 MYASTHENIC SYNDROME, CONGENITAL, 13</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397515321 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515321;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/rs397515321?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=rs397515321" 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=rs397515321" 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=RCV000030603 OR RCV003764646" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030603, RCV003764646" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030603...</a>
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<p>For discussion of the 1-bp duplication in the DPAGT1 gene (699dup) that was found in compound heterozygous state in a patient with congenital myasthenic syndrome-13 (CMS13; <a href="/entry/614750">614750</a>) by <a href="#1" class="mim-tip-reference" title="Belaya, K., Finlayson, S., Slater, C. R., Cossins, J., Liu, W. W., Maxwell, S., McGowan, S. J., Maslau, S., Twigg, S. R. F., Walls, T. J., Pascual Pascual, S. I., Palace, J., Beeson, D. <strong>Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.</strong> Am. J. Hum. Genet. 91: 193-201, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22742743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22742743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22742743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.05.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22742743">Belaya et al. (2012)</a>, see <a href="#0002">191350.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22742743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 MYASTHENIC SYNDROME, CONGENITAL, 13</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907244 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907244;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=rs387907244" 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=rs387907244" 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=RCV000030604" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030604" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030604</a>
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<p>In 2 sibs with congenital myasthenic syndrome-13 (CMS13; <a href="/entry/614750">614750</a>), <a href="#1" class="mim-tip-reference" title="Belaya, K., Finlayson, S., Slater, C. R., Cossins, J., Liu, W. W., Maxwell, S., McGowan, S. J., Maslau, S., Twigg, S. R. F., Walls, T. J., Pascual Pascual, S. I., Palace, J., Beeson, D. <strong>Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.</strong> Am. J. Hum. Genet. 91: 193-201, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22742743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22742743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22742743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.05.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22742743">Belaya et al. (2012)</a> identified compound heterozygosity for 2 mutations in the DPAGT1 gene: a 358C-A transversion resulting in a leu120-to-met (L120M) substitution, and a 791T-G transversion resulting in a val264-to-gly (V264G; <a href="#0006">191350.0006</a>) substitution. The patients had onset in the first year of life of hypotonia, poor head control, and delayed motor development. They showed some improvement in muscle power during the teenage years, and both showed a response to pyridostigmine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22742743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 MYASTHENIC SYNDROME, CONGENITAL, 13</strong>
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DPAGT1, VAL264GLY
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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> rs387907245 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907245;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/rs387907245?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=rs387907245" 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=rs387907245" 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=RCV000030605" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030605" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030605</a>
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<p>For discussion of the val264-to-gly (V264G) mutation in the DPAGT1 gene that was found in compound heterozygous state in patients with congenital myasthenic syndrome-13 (CMS13; <a href="/entry/614750">614750</a>) by <a href="#1" class="mim-tip-reference" title="Belaya, K., Finlayson, S., Slater, C. R., Cossins, J., Liu, W. W., Maxwell, S., McGowan, S. J., Maslau, S., Twigg, S. R. F., Walls, T. J., Pascual Pascual, S. I., Palace, J., Beeson, D. <strong>Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.</strong> Am. J. Hum. Genet. 91: 193-201, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22742743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22742743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22742743[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.05.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22742743">Belaya et al. (2012)</a>, see <a href="#0005">191350.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22742743" 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 Ij</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397514586 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514586;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/rs397514586?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=rs397514586" 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=rs397514586" 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 Ij (CDGIJ; <a href="/entry/608093">608093</a>), <a href="#9" class="mim-tip-reference" title="Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuvel, L., Thiel, C., Wevers, R. A., Morava, E., Veltman, J., Lefeber, D. J. <strong>Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.</strong> Hum. Molec. Genet. 21: 4151-4161, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22492991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22492991</a>] [<a href="https://doi.org/10.1093/hmg/dds123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22492991">Timal et al. (2012)</a> identified compound heterozygosity for 2 mutations in the DPAGT1 gene: a 206T-A transversion in exon 2 resulting in an ile69-to-asn (I69N) substitution at a highly conserved residue in the highly conserved dolichol recognition motif, and a G-to-A transition in intron 1 (161+5G-A; <a href="#0008">191350.0008</a>), which resulted in degradation of the mutant mRNA. The mutations were found by exome sequencing and confirmed by Sanger sequencing. Each unaffected parent was heterozygous for 1 of the mutations. In patient-derived cells, the formation of GlcNAc-PP-dolichol was reduced to 22% of controls. The patient had multisystem problems, including asphyxia at birth, respiratory insufficiency, frequent apneas, jaundice, nuclear cataracts, cryptorchidism, dysmorphic features, hypertonia of the limbs, joint contractures, tremor, and feeding difficulties. Laboratory studies showed chronic anemia, hypoproteinemia, increased liver enzymes, and coagulation defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22492991" 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> rs397515322 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515322;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/rs397515322?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=rs397515322" 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=rs397515322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the splice site mutation in the DPAGT1 gene (161+5G-A) that was found in compound heterozygous state in a patient with congenital disorder of glycosylation type Ij (CDGIJ; <a href="/entry/608093">608093</a>) by <a href="#9" class="mim-tip-reference" title="Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuvel, L., Thiel, C., Wevers, R. A., Morava, E., Veltman, J., Lefeber, D. J. <strong>Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.</strong> Hum. Molec. Genet. 21: 4151-4161, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22492991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22492991</a>] [<a href="https://doi.org/10.1093/hmg/dds123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22492991">Timal et al. (2012)</a>, see <a href="#0007">191350.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22492991" 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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DPAGT1, ALA114GLY
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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> rs397515327 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515327;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/rs397515327?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=rs397515327" 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=rs397515327" 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=RCV000055659 OR RCV001291448" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000055659, RCV001291448" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000055659...</a>
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<p>In 2 sibs, born of consanguineous Turkish parents, with congenital disorder of glycosylation type Ij (CDGIJ; <a href="/entry/608093">608093</a>), <a href="#11" class="mim-tip-reference" title="Wurde, A. E., Reunert, J., Rust, S., Hertzberg, C., Haverkamper, S., Nurnberg, G., Nurnberg, P., Lehle, L., Rossi, R., Marquardt, T. <strong>Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.</strong> Molec. Genet. Metab. 105: 634-641, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22304930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22304930</a>] [<a href="https://doi.org/10.1016/j.ymgme.2012.01.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22304930">Wurde et al. (2012)</a> identified a homozygous c.341C-G transversion in exon 3 of the DPAGT1 gene, resulting in an ala114-to-gly (A114G) substitution. The mutation was found by homozygosity mapping followed by candidate gene sequencing. The unaffected parents were heterozygous for the mutation, which was not found in 100 control alleles of the same ethnic background. RT-PCR of patient cells showed that the mutation also increased the normal aberrant splicing seen in controls, resulting in the skipping of exons 2/3 and a truncated protein. In vitro functional expression assays showed decreased DPAGT1 activity, at 18% of normal values. The patients had a severe disorder characterized by hyperexcitability, intractable seizures, bilateral cataracts, nystagmus, strabismus, and progressive microcephaly. Both died within their first year of life from cardiorespiratory failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22304930" 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>.0010 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397515328 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515328;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/rs397515328?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=rs397515328" 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=rs397515328" 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=RCV000055660 OR RCV001209851 OR RCV003236665" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000055660, RCV001209851, RCV003236665" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000055660...</a>
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<p>In 2 Pakistani sibs, born of unrelated parents, with a relatively mild form of congenital disorder of glycosylation type Ij (CDGIJ; <a href="/entry/608093">608093</a>), <a href="#5" class="mim-tip-reference" title="Iqbal, Z., Shahzad, M., Vissers, L. E. L. M., van Scherpenzeel, M., Gilissen, C., Razzaq, A., Zahoor, M. Y., Khan, S. N., Kleefstra, T., Veltman, J. A., de Brouwer, A. P. M., Lefeber, D. J., van Bokhoven, H., Riazuddin, S. <strong>A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.</strong> Europ. J. Hum. Genet. 21: 844-849, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23249953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23249953</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23249953[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/10.1038/ejhg.2012.257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23249953">Iqbal et al. (2013)</a> identified compound heterozygosity for 2 mutations in the DPAGT1 gene: a c.85A-T transition resulting in an ile29-to-phe (I29F) substitution, and a c.503T-C transition resulting in a leu168-to-pro (L168P; <a href="#0011">191350.0011</a>) substitution. The mutations were found by exome sequencing of 1 of the patients and confirmed by Sanger sequencing in both patients. The mutations segregated with the disorder and occurred at highly conserved residues. Neither was present in over 200 ethnically matched chromosomes or in the dbSNP, 1000 Genomes Project, or Exome Variant Server databases. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23249953" 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>.0011 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515329 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515329;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=rs397515329" 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=rs397515329" 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=RCV000055661" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000055661" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000055661</a>
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<p>For discussion of the leu168-to-pro (L168P) mutation in the DPAGT1 gene that was found in compound heterozygous state in patients with congenital disorder of glycosylation type Ij (CDGIJ; <a href="/entry/608093">608093</a>) by <a href="#5" class="mim-tip-reference" title="Iqbal, Z., Shahzad, M., Vissers, L. E. L. M., van Scherpenzeel, M., Gilissen, C., Razzaq, A., Zahoor, M. Y., Khan, S. N., Kleefstra, T., Veltman, J. A., de Brouwer, A. P. M., Lefeber, D. J., van Bokhoven, H., Riazuddin, S. <strong>A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.</strong> Europ. J. Hum. Genet. 21: 844-849, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23249953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23249953</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23249953[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/10.1038/ejhg.2012.257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23249953">Iqbal et al. (2013)</a>, see <a href="#0010">191350.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23249953" 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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[<a href="https://doi.org/10.1016/j.ajhg.2012.05.022" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.cell.2018.10.037" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9451016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9451016</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9451016" 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/glycob/8.1.77" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11805072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11805072</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11805072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Iqbal, Z., Shahzad, M., Vissers, L. E. L. M., van Scherpenzeel, M., Gilissen, C., Razzaq, A., Zahoor, M. Y., Khan, S. N., Kleefstra, T., Veltman, J. A., de Brouwer, A. P. M., Lefeber, D. J., van Bokhoven, H., Riazuddin, S.
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<strong>A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.</strong>
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Europ. J. Hum. Genet. 21: 844-849, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23249953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23249953</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23249953[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=23249953" 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/ejhg.2012.257" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/glycob/9.11.1263" target="_blank">Full Text</a>]
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<strong>Mouse UDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferase: molecular cloning of the cDNA, generation of anti-peptide antibodies and chromosomal localization.</strong>
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[<a href="https://doi.org/10.1042/bj2850985" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1993.1392" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/dds123" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12872255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12872255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12872255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.10239" target="_blank">Full Text</a>]
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Wurde, A. E., Reunert, J., Rust, S., Hertzberg, C., Haverkamper, S., Nurnberg, G., Nurnberg, P., Lehle, L., Rossi, R., Marquardt, T.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22304930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22304930</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22304930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bao Lige - updated : 04/05/2019
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Cassandra L. Kniffin - updated : 9/18/2013<br>Cassandra L. Kniffin - updated : 11/8/2012<br>Cassandra L. Kniffin - updated : 8/1/2012<br>Patricia A. Hartz - updated : 11/17/2003<br>Victor A. McKusick - updated : 9/9/2003
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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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Victor A. McKusick : 11/10/1992
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</span>
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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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/04/2022
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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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mgross : 04/05/2019<br>carol : 04/12/2017<br>carol : 03/27/2017<br>alopez : 04/29/2015<br>carol : 4/27/2015<br>ckniffin : 4/21/2015<br>mcolton : 4/20/2015<br>carol : 10/15/2013<br>carol : 9/26/2013<br>tpirozzi : 9/26/2013<br>tpirozzi : 9/26/2013<br>ckniffin : 9/18/2013<br>carol : 9/17/2013<br>terry : 11/8/2012<br>carol : 11/8/2012<br>ckniffin : 11/8/2012<br>carol : 8/2/2012<br>ckniffin : 8/1/2012<br>joanna : 1/13/2011<br>terry : 4/4/2005<br>mgross : 11/17/2003<br>tkritzer : 9/26/2003<br>carol : 9/26/2003<br>tkritzer : 9/12/2003<br>tkritzer : 9/9/2003<br>carol : 8/19/1998<br>mark : 12/22/1997<br>carol : 11/10/1992
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<h3>
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<span class="mim-font">
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<strong>*</strong> 191350
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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 N-ACETYLGLUCOSAMINE PHOSPHOTRANSFERASE; DPAGT1
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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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<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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<h4>
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<span class="mim-font">
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UDP-GlcNAc:DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINEPHOSPHOTRANSFERASE<br />
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DPAGT2<br />
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GlcNAc-1-P TRANSFERASE
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</span>
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</h4>
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</div>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DPAGT1</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> 725079003;
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</span>
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</p>
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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: 11q23.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:119,093,874-119,101,853 </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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<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>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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11q23.3
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</td>
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<td>
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<span class="mim-font">
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Congenital disorder of glycosylation, type Ij
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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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608093
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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<tr>
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<td>
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<span class="mim-font">
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Myasthenic syndrome, congenital, 13, with tubular aggregates
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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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614750
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</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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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>N-linked glycosylation is initiated in all eukaryotic cells with the synthesis of lipid-linked oligosaccharides in a cyclic pathway, the dolichol cycle. DPAGT1 (EC 2.7.8.15) catalyzes the first step in the dolichol cycle, the synthesis of N-acetylglucosaminyl-pyrophosphoryldolichol (GlcNAc-PP-dolichol) from dolichol phosphate and UDP-GlcNAc, and can be inhibited by the antibiotic tunicamycin (Eckert et al., 1998). </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>Rajput et al. (1992) isolated mRNA for the Dpagt1 protein from mouse mammary glands. The mouse cDNA recognized a single mRNA species of about 2 kb in mouse mammary glands when used as a probe in Northern blot analysis. </p><p>Eckert et al. (1998) cloned a human DPAGT1 cDNA from a human lung fibroblast cDNA library. The cDNA encodes a deduced 400-amino acid protein with a calculated molecular mass of 44.7 kD. DPAGT1 contains an N-terminal signal peptide, 2 potential dolichol-binding sequences, and 4 sites for N-glycosylation. It shares 93% amino acid homology with hamster Dpagt, including 100% identity in the dolichol-binding region, and 42% homology with S. cerevisiae GlcNAc-1-P transferase. </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>Protein asparagine-linked glycosylation is a multistep process that is divided into 2 stages. The first stage consists of the synthesis of the lipid-linked oligosaccharide precursor (LLO) and its en bloc transfer to nascent polypeptides in the lumen of the endoplasmic reticulum. This process requires at least 34 genes, of which DPAGT1 is the first. The second stage involves the processing of protein-bound oligosaccharides and requires at least an additional 20 genes to form a bi-antennary sugar chain typical of plasma glycoproteins. Genetic defects in some of these genes, including DPAGT1, cause severe multisystem disorders called congenital disorders of glycosylation (CDGs) (Freeze, 2001) </p><p>Eckert et al. (1998) demonstrated that S. cerevisiae expressing recombinant DPAGT1 synthesized GlcNAc- and GlcNAc(2)-PP-dolichol. Expression of human DPAGT1 also complemented a conditional lethal S. cerevisiae strain defective for GlcNAc-1-P transferase. Expression of recombinant DPAGT1 from a multicopy expression vector also conferred a higher tolerance toward tunicamycin due to elevated enzyme synthesis, thus showing a gene dosage effect. </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>Biochemical Features</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>Dong et al. (2018) determined the crystal structures of human DPAGT1 and DPAGT1 in complex with UDP-GlcNAc or tunicamycin at 3.1- to 3.6-angstrom resolution. DPAGT1 exists predominantly as a noncovalent dimer in solution, and dimerization is important for its stability. DPAGT1 consists of 10 transmembrane helices (TMHs) with both termini in the endoplasmic reticulum (ER) lumen. The active site is on the cytoplasmic face of the membrane, formed by 4 of the 5 cytoplasmic loops between the TMHs. Three loops are on the ER side of the membrane, and 1 is embedded in the membrane on the ER side. Formation of the DPAGT1-UDP-GlcNAc complex stabilizes the active site of DPAGT1. The authors determined that missense mutations in DPAGT1 alter DPAGT1 function via diverse mechanisms. Structural analysis of the DPAGT1-tunicamycin complex suggested that tunicamycin inhibits DPAGT1 through partial mimicry of the complex formed during catalysis between acceptor phospholipid Dol-P and UDP-GlcNAc. The authors designed semisynthetic and lipid-altered tunicamycin analogs that retained antimicrobial activity but no longer inhibited DPAGT1, thereby circumventing toxicity to eukaryotic cells. These tunicamycin analogs could reduce intracellular bacterial burdens with nanomolar antimicrobial potency and no signs of toxicity, providing leads for tuberculosis antibiotic development. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using FISH and somatic cell hybrid analysis, Smith et al. (1993) mapped the DPAGT1 gene (D11S366) to chromosome 11q23.3. </p><p>Using a panel of mouse/hamster somatic cell hybrids and a specific probe derived from the 3-prime noncoding region of the mouse cDNA, Rajput et al. (1992) mapped the mouse Dpagt1 gene to chromosome 17. </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>Marek et al. (1999) found that Dpagt1-null mice died 4 to 5 days postfertilization, just after implantation, suggesting that DPAGT1 function and protein N-glycosylation are essential in early embryogenesis. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Congenital Disorder of Glycosylation Type Ij</em></strong></p><p>
|
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In a patient with CDG Ij (CDGIJ; 608093), Wu et al. (2003) identified a tyr170-to-cys mutation (Y170C; 191350.0001) in the DPAGT1 gene. </p><p>Timal et al. (2012) identified compound heterozygosity for 2 mutations in the DPAGT1 gene (191350.0007 and 191350.0008) in a Caucasian boy with CDG Ij. The mutations were found by exome sequencing and confirmed by Sanger sequencing. </p><p>In 2 sibs, born of consanguineous Turkish parents, with severe CDG Ij, Wurde et al. (2012) identified a homozygous mutation in the DPAGT1 gene (A114G; 191350.0009). The mutation was found by homozygosity mapping followed by candidate gene sequencing. The unaffected parents were heterozygous for the mutation, which was not found in 100 control alleles of the same ethnic background. RT-PCR analysis of patient cells showed that the mutation also increased the amount of normal aberrant splicing seen in controls, resulting in the skipping of exons 2/3 and a truncated protein. In vitro functional expression assays showed decreased DPAGT1 activity, at 18% of normal values. The patients had a severe disorder characterized by hyperexcitability, intractable seizures, bilateral cataracts, nystagmus, strabismus, and progressive microcephaly. Both died within their first year of life from cardiorespiratory failure. </p><p>In a Pakistani brother and sister, born of unrelated patients with a mild from of CDG Ij, Iqbal et al. (2013) identified compound heterozygous mutations in the DPAGT1 gene (I29F; 191350.0010 and L168P; 191350.0011). The mutations were found by exome sequencing, confirmed by Sanger sequencing, segregated with the disorder, and occurred at highly conserved residues. Neither was present in over 200 ethnically matched chromosomes or in the dbSNP, 1000 Genomes Project, or Exome Variant Server databases. Functional studies of the variants were not performed. The patients had normal psychomotor development until ages 2 and 5 years, respectively, when they both developed seizures, hypotonia, and aggressive behavior. As adults, they had moderate intellectual disability, poor speech, aggressive behavior, hypotonia, seizures, and mild facial dysmorphic features. </p><p><strong><em>Congenital Myasthenic Syndrome 13</em></strong></p><p>
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In 5 patients from 4 families with congenital myasthenic syndrome-13 (CMS13; 614750) with tubular aggregates, Belaya et al. (2012) identified 7 different mutations in the DPAGT1 gene (see, e.g., 191350.0002-191350.0006). All mutations were in the compound heterozygous state. The first 4 mutations were identified by exome sequencing of 2 unrelated patients and were confirmed by Sanger sequencing. The mutations segregated with the disorder in those families with available material. Analyses of motor endplates from 2 patients showed a severe reduction of endplate acetylcholine receptors (AChR). In vitro studies showed that DPAGT1 is required for efficient glycosylation of AChR subunits and for efficient export of AChR receptors to the cell surface. The findings demonstrated the importance of N-linked protein glycosylation for proper functioning of the neuromuscular junction, and suggested that the primary pathogenic mechanism of DPAGT1 mutations is reduced levels of AChR at the endplate region. Laboratory studies of 2 patients showed abnormal glycosylation of transferrin, consistent with a functional defect of DPAGT1. Belaya et al. (2012) postulated that the defect in glycosylation of certain proteins may lead to misfolding and aggregation in the sarcoplasmic reticulum, resulting in formation of tubular aggregates within muscle tissue. </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>Nomenclature</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>GPT has been used as an abbreviation for this enzyme, but this runs the risk of confusion with glutamate-pyruvate transaminase (GPT; 138200).</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>11 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij</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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DPAGT1, TYR170CYS
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<br />
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SNP: rs28934876,
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gnomAD: rs28934876,
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ClinVar: RCV000013090, RCV000694750, RCV001291042, RCV001567586
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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 central disorder of glycosylation type Ij (CDG1J; 608093), Wu et al. (2003) identified reduced DPAGT1 enzymatic activity; sequencing of genomic DNA and cDNAs of the DPAGT1 gene identified, in the paternal allele, a 660A-G transition in exon 5, resulting in a tyr170-to-cys (Y170C) mutation. Although no mutation was identified in the maternal allele, it produced only 12% of the normal amount of mature mRNA; the remainder showed a complex exon skipping pattern that shifted the reading frame and resulted in a truncated nonfunctional protein. The patient had developed infantile spasms at the age of 4 months within 72 hours of receiving DPT immunization. Development was significantly delayed in all aspects with microcephaly, arched palate, micrognathia, and exotropia. She also had fifth finger clinodactyly, single flexion creases of the hands, and skin dimples on the upper thighs. She had severe hypotonia and medically intractable seizures, and at 6 years of age had minimal speech. Abnormal isoelectric focusing pattern of serum transferrin was consistent with the diagnosis of type I CDG. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 MYASTHENIC SYNDROME, CONGENITAL, 13</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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DPAGT1, VAL117ILE
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<br />
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SNP: rs387907243,
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ClinVar: RCV000030601, RCV001852609
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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 myasthenic syndrome-13 (CMS13; 614750), Belaya et al. (2012) identified compound heterozygosity for 2 mutations in the DPAGT1 gene: a 349G-A transition resulting in a val117-to-ile (V117I) substitution, and a 324G-C transversion resulting in a met108-to-ile (M108I; 191350.0003) substitution. Another patient was compound heterozygous for V117I and a 1-bp duplication (c.699dup; 191350.0004), resulting in a frameshift, premature termination (Thr234HisfsTer116), and nonsense-mediated mRNA decay. The mutations were found by exome sequencing and confirmed by Sanger sequencing. The 324G-C mutation was found in 2 (0.0186%) of 10,758 control alleles from the general population and 1 (0.0142%) of 7,020 alleles in the European American population. None of the other mutations were found in controls. The patients had onset at age 2.5 and 7 years, respectively, of difficulty walking due to proximal muscle weakness, and showed a favorable response to pyridostigmine. Muscle biopsy showed reduced levels of endplate acetylcholine receptors (AChR). In vitro functional expression studies showed that the c.699dup mutation was unable to restore normal levels of glycosylated AChR in HEK293 cells with DPAGT1 inhibition. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 MYASTHENIC SYNDROME, CONGENITAL, 13</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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DPAGT1, MET108ILE
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<br />
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SNP: rs376039938,
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gnomAD: rs376039938,
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ClinVar: RCV000030602, RCV001224025, RCV003144114
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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>For discussion of the met108-to-ile (M108I) mutation in the DPAGT1 gene that was found in compound heterozygous state in a patient with congenital myasthenic syndrome-13 (CMS13; 614750) by Belaya et al. (2012), see 191350.0002. </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>.0004 MYASTHENIC SYNDROME, CONGENITAL, 13</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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DPAGT1, 1-BP DUP, NT699
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<br />
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SNP: rs397515321,
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gnomAD: rs397515321,
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ClinVar: RCV000030603, RCV003764646
|
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|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp duplication in the DPAGT1 gene (699dup) that was found in compound heterozygous state in a patient with congenital myasthenic syndrome-13 (CMS13; 614750) by Belaya et al. (2012), see 191350.0002. </p>
|
|
</span>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>.0005 MYASTHENIC SYNDROME, CONGENITAL, 13</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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DPAGT1, LEU120MET
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<br />
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SNP: rs387907244,
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ClinVar: RCV000030604
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 2 sibs with congenital myasthenic syndrome-13 (CMS13; 614750), Belaya et al. (2012) identified compound heterozygosity for 2 mutations in the DPAGT1 gene: a 358C-A transversion resulting in a leu120-to-met (L120M) substitution, and a 791T-G transversion resulting in a val264-to-gly (V264G; 191350.0006) substitution. The patients had onset in the first year of life of hypotonia, poor head control, and delayed motor development. They showed some improvement in muscle power during the teenage years, and both showed a response to pyridostigmine. </p>
|
|
</span>
|
|
</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>.0006 MYASTHENIC SYNDROME, CONGENITAL, 13</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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DPAGT1, VAL264GLY
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<br />
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SNP: rs387907245,
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|
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gnomAD: rs387907245,
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|
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|
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ClinVar: RCV000030605
|
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|
</span>
|
|
</div>
|
|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the val264-to-gly (V264G) mutation in the DPAGT1 gene that was found in compound heterozygous state in patients with congenital myasthenic syndrome-13 (CMS13; 614750) by Belaya et al. (2012), see 191350.0005. </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 Ij</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
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|
DPAGT1, ILE69ASN
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|
<br />
|
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|
|
SNP: rs397514586,
|
|
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|
|
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gnomAD: rs397514586,
|
|
|
|
|
|
ClinVar: RCV000032992
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital disorder of glycosylation type Ij (CDGIJ; 608093), Timal et al. (2012) identified compound heterozygosity for 2 mutations in the DPAGT1 gene: a 206T-A transversion in exon 2 resulting in an ile69-to-asn (I69N) substitution at a highly conserved residue in the highly conserved dolichol recognition motif, and a G-to-A transition in intron 1 (161+5G-A; 191350.0008), which resulted in degradation of the mutant mRNA. The mutations were found by exome sequencing and confirmed by Sanger sequencing. Each unaffected parent was heterozygous for 1 of the mutations. In patient-derived cells, the formation of GlcNAc-PP-dolichol was reduced to 22% of controls. The patient had multisystem problems, including asphyxia at birth, respiratory insufficiency, frequent apneas, jaundice, nuclear cataracts, cryptorchidism, dysmorphic features, hypertonia of the limbs, joint contractures, tremor, and feeding difficulties. Laboratory studies showed chronic anemia, hypoproteinemia, increased liver enzymes, and coagulation defects. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DPAGT1, IVS1DS, G-A, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515322,
|
|
|
|
|
|
gnomAD: rs397515322,
|
|
|
|
|
|
ClinVar: RCV000032993
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the DPAGT1 gene (161+5G-A) that was found in compound heterozygous state in a patient with congenital disorder of glycosylation type Ij (CDGIJ; 608093) by Timal et al. (2012), see 191350.0007. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DPAGT1, ALA114GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515327,
|
|
|
|
|
|
gnomAD: rs397515327,
|
|
|
|
|
|
ClinVar: RCV000055659, RCV001291448
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs, born of consanguineous Turkish parents, with congenital disorder of glycosylation type Ij (CDGIJ; 608093), Wurde et al. (2012) identified a homozygous c.341C-G transversion in exon 3 of the DPAGT1 gene, resulting in an ala114-to-gly (A114G) substitution. The mutation was found by homozygosity mapping followed by candidate gene sequencing. The unaffected parents were heterozygous for the mutation, which was not found in 100 control alleles of the same ethnic background. RT-PCR of patient cells showed that the mutation also increased the normal aberrant splicing seen in controls, resulting in the skipping of exons 2/3 and a truncated protein. In vitro functional expression assays showed decreased DPAGT1 activity, at 18% of normal values. The patients had a severe disorder characterized by hyperexcitability, intractable seizures, bilateral cataracts, nystagmus, strabismus, and progressive microcephaly. Both died within their first year of life from cardiorespiratory failure. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DPAGT1, ILE29PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515328,
|
|
|
|
|
|
gnomAD: rs397515328,
|
|
|
|
|
|
ClinVar: RCV000055660, RCV001209851, RCV003236665
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Pakistani sibs, born of unrelated parents, with a relatively mild form of congenital disorder of glycosylation type Ij (CDGIJ; 608093), Iqbal et al. (2013) identified compound heterozygosity for 2 mutations in the DPAGT1 gene: a c.85A-T transition resulting in an ile29-to-phe (I29F) substitution, and a c.503T-C transition resulting in a leu168-to-pro (L168P; 191350.0011) substitution. The mutations were found by exome sequencing of 1 of the patients and confirmed by Sanger sequencing in both patients. The mutations segregated with the disorder and occurred at highly conserved residues. Neither was present in over 200 ethnically matched chromosomes or in the dbSNP, 1000 Genomes Project, or Exome Variant Server databases. Functional studies of the variants were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DPAGT1, LEU168PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515329,
|
|
|
|
|
|
|
|
ClinVar: RCV000055661
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the leu168-to-pro (L168P) mutation in the DPAGT1 gene that was found in compound heterozygous state in patients with congenital disorder of glycosylation type Ij (CDGIJ; 608093) by Iqbal et al. (2013), see 191350.0010. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Belaya, K., Finlayson, S., Slater, C. R., Cossins, J., Liu, W. W., Maxwell, S., McGowan, S. J., Maslau, S., Twigg, S. R. F., Walls, T. J., Pascual Pascual, S. I., Palace, J., Beeson, D.
|
|
<strong>Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.</strong>
|
|
Am. J. Hum. Genet. 91: 193-201, 2012.
|
|
|
|
|
|
[PubMed: 22742743]
|
|
|
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|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2012.05.022]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Dong, Y. Y., Wang, H., Pike, A. C. W., Cochrane, S. A., Hamedzadeh, S., Wyszynski, F. J., Bushell, S. R., Royer, S. F., Widdick, D. A., Sajid, A., Boshoff, H. I., Park, Y., and 20 others.
|
|
<strong>Structures of DPAGT1 explain glycosylation disease mechanisms and advance TB antibiotic design.</strong>
|
|
Cell 175: 1045-1058, 2018.
|
|
|
|
|
|
[PubMed: 30388443]
|
|
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|
|
|
[Full Text: https://doi.org/10.1016/j.cell.2018.10.037]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Eckert, V., Blank, M., Mazhari-Tabrizi, R., Mumberg, D., Funk, M., Schwarz, R. T.
|
|
<strong>Cloning and functional expression of the human GlcNAc-1-P transferase, the enzyme for the committed step of the dolichol cycle, by heterologous complementation in Saccharomyces cerevisiae.</strong>
|
|
Glycobiology 8: 77-85, 1998.
|
|
|
|
|
|
[PubMed: 9451016]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/glycob/8.1.77]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Freeze, H. H.
|
|
<strong>Update and perspectives on congenital disorders of glycosylation.</strong>
|
|
Glycobiology 11: 129R-143R, 2001.
|
|
|
|
|
|
[PubMed: 11805072]
|
|
|
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|
|
</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Iqbal, Z., Shahzad, M., Vissers, L. E. L. M., van Scherpenzeel, M., Gilissen, C., Razzaq, A., Zahoor, M. Y., Khan, S. N., Kleefstra, T., Veltman, J. A., de Brouwer, A. P. M., Lefeber, D. J., van Bokhoven, H., Riazuddin, S.
|
|
<strong>A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.</strong>
|
|
Europ. J. Hum. Genet. 21: 844-849, 2013.
|
|
|
|
|
|
[PubMed: 23249953]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2012.257]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Marek, K. W., Vijay, I. K., Marth, J. D.
|
|
<strong>A recessive deletion in the GlcNAc-1-phosphotransferase gene results in peri-implantation embryonic lethality.</strong>
|
|
Glycobiology 9: 1263-1271, 1999.
|
|
|
|
|
|
[PubMed: 10536042]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/glycob/9.11.1263]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rajput, B., Ma, J., Muniappa, N., Schantz, L., Naylor, S. L., Lalley, P. A., Vijay, I. K.
|
|
<strong>Mouse UDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferase: molecular cloning of the cDNA, generation of anti-peptide antibodies and chromosomal localization.</strong>
|
|
Biochem. J. 285: 985-992, 1992.
|
|
|
|
|
|
[PubMed: 1323278]
|
|
|
|
|
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[Full Text: https://doi.org/10.1042/bj2850985]
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Smith, M. W., Clark, S. P., Hutchinson, J. S., Wei, Y. H., Churukian, A. C., Daniels, L. B., Diggle, K. L., Gen, M. W., Romo, A. J., Lin, Y., Selleri, L., Mcelligott, D. L., Evans, G. A.
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Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuvel, L., Thiel, C., Wevers, R. A., Morava, E., Veltman, J., Lefeber, D. J.
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Wurde, A. E., Reunert, J., Rust, S., Hertzberg, C., Haverkamper, S., Nurnberg, G., Nurnberg, P., Lehle, L., Rossi, R., Marquardt, T.
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Bao Lige - updated : 04/05/2019<br>Cassandra L. Kniffin - updated : 9/18/2013<br>Cassandra L. Kniffin - updated : 11/8/2012<br>Cassandra L. Kniffin - updated : 8/1/2012<br>Patricia A. Hartz - updated : 11/17/2003<br>Victor A. McKusick - updated : 9/9/2003
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Victor A. McKusick : 11/10/1992
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carol : 03/04/2022<br>mgross : 04/05/2019<br>carol : 04/12/2017<br>carol : 03/27/2017<br>alopez : 04/29/2015<br>carol : 4/27/2015<br>ckniffin : 4/21/2015<br>mcolton : 4/20/2015<br>carol : 10/15/2013<br>carol : 9/26/2013<br>tpirozzi : 9/26/2013<br>tpirozzi : 9/26/2013<br>ckniffin : 9/18/2013<br>carol : 9/17/2013<br>terry : 11/8/2012<br>carol : 11/8/2012<br>ckniffin : 11/8/2012<br>carol : 8/2/2012<br>ckniffin : 8/1/2012<br>joanna : 1/13/2011<br>terry : 4/4/2005<br>mgross : 11/17/2003<br>tkritzer : 9/26/2003<br>carol : 9/26/2003<br>tkritzer : 9/12/2003<br>tkritzer : 9/9/2003<br>carol : 8/19/1998<br>mark : 12/22/1997<br>carol : 11/10/1992
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