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<title>
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Entry
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- *154550 - MANNOSEPHOSPHATE ISOMERASE; MPI
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- OMIM
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</ul>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="row">
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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</li>
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<li role="separator" class="divider"></li>
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<li>
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<a href="/history"> Search History </a>
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</ul>
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</form>
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<div class="row">
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<p />
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</div>
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<div id="mimAlertBanner">
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*154550</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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
|
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<a href="/allelicVariants/154550">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
|
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
|
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</div>
|
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
|
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</span>
|
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</span>
|
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</div>
|
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000178802;t=ENST00000352410" 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=4351" 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=154550" 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=ENSG00000178802;t=ENST00000352410" 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_001289155,NM_001289156,NM_001289157,NM_001330372,NM_002435,XM_047432536,XM_047432537" 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_002435" 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=154550" 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=01108&isoform_id=01108_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/MPI" 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/416017,462567,4505235,7159280,16878311,20563689,28386241,119619701,119619702,119619703,119619704,158258180,194376082,194376306,194379428,574584836,574584838,574584840,1058916440,2217301175,2217301177,2462544135,2462544137" 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/P34949" 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=4351" 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=ENSG00000178802;t=ENST00000352410" 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=MPI" 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=MPI" 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+4351" 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/MPI" 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:4351" 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/4351" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr15&hgg_gene=ENST00000352410.9&hgg_start=74890042&hgg_end=74902219&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:7216" 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=154550[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=154550[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/MPI/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000178802" 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=MPI" 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=MPI" 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=MPI" 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=MPI&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/PA30922" 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:7216" 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/FBgn0286506.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:97075" 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/MPI#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:97075" 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/4351/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=4351" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00014013;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00014013 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00015464;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00015464 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-050904-6" 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:154550" 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:4351" 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=MPI&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> 1231141008<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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154550
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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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MANNOSEPHOSPHATE ISOMERASE; MPI
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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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PHOSPHOMANNOSE ISOMERASE 1; PMI1; PMI
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MPI" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MPI</a></em></strong>
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Cytogenetic location: <a href="/geneMap/15/390?start=-3&limit=10&highlight=390">15q24.1-q24.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:74890042-74902219&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">15:74,890,042-74,902,219</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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Phenotype <br /> MIM number
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15q24.1-q24.2
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Congenital disorder of glycosylation, type Ib
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<a href="/entry/602579"> 602579 </a>
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<span class="mim-font">
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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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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/154550" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/154550" 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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<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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<p>Mannosephosphate isomerase (MPI), also known as phosphomannose isomerase (PMI; <a href="https://enzyme.expasy.org/EC/5.3.1.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 5.3.1.8</a>), catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives which are required for most glycosylation reactions (<a href="#9" class="mim-tip-reference" title="Proudfoot, A. E. I., Turcatti, G., Wells, T. N. C., Payton, M. A., Smith, D. J. <strong>Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase.</strong> Europ. J. Biochem. 219: 415-423, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8307007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8307007</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1994.tb19954.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8307007">Proudfoot et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8307007" 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="#9" class="mim-tip-reference" title="Proudfoot, A. E. I., Turcatti, G., Wells, T. N. C., Payton, M. A., Smith, D. J. <strong>Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase.</strong> Europ. J. Biochem. 219: 415-423, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8307007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8307007</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1994.tb19954.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8307007">Proudfoot et al. (1994)</a> purified human phosphomannose isomerase from placenta tissue. The authors used sequence information obtained from internal fragments of the protein to design degenerate oligonucleotides which were used to amplify a fragment of the PMI cDNA. Using this fragment to screen a human testis cDNA library, <a href="#9" class="mim-tip-reference" title="Proudfoot, A. E. I., Turcatti, G., Wells, T. N. C., Payton, M. A., Smith, D. J. <strong>Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase.</strong> Europ. J. Biochem. 219: 415-423, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8307007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8307007</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1994.tb19954.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8307007">Proudfoot et al. (1994)</a> isolated a full-length PMI cDNA. The PMI gene encodes a predicted 423-amino acid polypeptide. Northern blot analysis detected a single 1.8-kb PMI mRNA in all tissues tested, with the highest levels in heart, brain, and skeletal muscle. Recombinant PMI expressed in E. coli had very similar activity to the native enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8307007" 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>Gene Function</strong>
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<p><a href="#4" class="mim-tip-reference" title="Gonzalez, P. S., O'Prey, J., Cardaci, S., Barthet, V. J. A., Sakamaki, J., Beaumatin, F., Roseweir, A., Gay, D. M., Mackay, G., Malviya, G., Kania, E., Ritchie, S., and 11 others. <strong>Mannose impairs tumour growth and enhances chemotherapy.</strong> Nature 563: 719-723, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30464341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30464341</a>] [<a href="https://doi.org/10.1038/s41586-018-0729-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30464341">Gonzalez et al. (2018)</a> reported that the mannosaccharide mannose causes growth retardation in several tumor types in vitro, and enhances cell death in response to major forms of chemotherapy. <a href="#4" class="mim-tip-reference" title="Gonzalez, P. S., O'Prey, J., Cardaci, S., Barthet, V. J. A., Sakamaki, J., Beaumatin, F., Roseweir, A., Gay, D. M., Mackay, G., Malviya, G., Kania, E., Ritchie, S., and 11 others. <strong>Mannose impairs tumour growth and enhances chemotherapy.</strong> Nature 563: 719-723, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30464341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30464341</a>] [<a href="https://doi.org/10.1038/s41586-018-0729-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30464341">Gonzalez et al. (2018)</a> then showed that these effects also occur in vivo in mice following the oral administration of mannose, without significantly affecting the weight and health of the animals. Mechanistically, mannose is taken up by the same transporter(s) as glucose but accumulates as mannose-6-phosphate in cells, and this impairs the further metabolism of glucose in glycolysis, the tricarboxylic acid cycle, the pentose phosphate pathway, and glycan synthesis. As a result, the administration of mannose in combination with conventional chemotherapy affects levels of antiapoptotic proteins of the Bcl2 (<a href="/entry/151430">151430</a>) family, leading to sensitization to cell death. <a href="#4" class="mim-tip-reference" title="Gonzalez, P. S., O'Prey, J., Cardaci, S., Barthet, V. J. A., Sakamaki, J., Beaumatin, F., Roseweir, A., Gay, D. M., Mackay, G., Malviya, G., Kania, E., Ritchie, S., and 11 others. <strong>Mannose impairs tumour growth and enhances chemotherapy.</strong> Nature 563: 719-723, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30464341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30464341</a>] [<a href="https://doi.org/10.1038/s41586-018-0729-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30464341">Gonzalez et al. (2018)</a> further showed that susceptibility to mannose is dependent on the levels of phosphomannose isomerase (PMI). Cells with low levels of PMI are sensitive to mannose, whereas cells with high levels are resistant, but can be made sensitive by RNA interference-mediated depletion of the enzyme. In addition, <a href="#4" class="mim-tip-reference" title="Gonzalez, P. S., O'Prey, J., Cardaci, S., Barthet, V. J. A., Sakamaki, J., Beaumatin, F., Roseweir, A., Gay, D. M., Mackay, G., Malviya, G., Kania, E., Ritchie, S., and 11 others. <strong>Mannose impairs tumour growth and enhances chemotherapy.</strong> Nature 563: 719-723, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30464341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30464341</a>] [<a href="https://doi.org/10.1038/s41586-018-0729-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30464341">Gonzalez et al. (2018)</a> used tissue microarrays to show that PMI levels also vary greatly between different patients and different tumor types, indicating that PMI levels could be used as a biomarker to direct the successful administration of mannose. The authors suggested that the administration of mannose could be a simple, safe, and selective therapy in the treatment of cancer, and could be applicable to multiple tumor types. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30464341" 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="#12" class="mim-tip-reference" title="Schollen, E., Dorland, L., de Koning, T. J., Van Diggelen, O. P., Huijmans, J. G. M., Marquardt, T., Babovic-Vuksanovic, D., Patterson, M., Imtiaz, F., Winchester, B., Adamowicz, M., Pronicka, E., Freeze, H., Matthijs, G. <strong>Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).</strong> Hum. Mutat. 16: 247-252, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980531</a>] [<a href="https://doi.org/10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980531">Schollen et al. (2000)</a> determined that the MPI gene contains 8 exons and spans 5 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10980531" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By human-mouse cell hybridization, <a href="#13" class="mim-tip-reference" title="Shows, T. B. <strong>Linkage of loci for human pyruvate kinase and mannosephosphate isomerase in somatic cell hybrids. (Abstract)</strong> Am. J. Hum. Genet. 24: 13A only, 1972."None>Shows (1972)</a> concluded that mannosephosphate isomerase and pyruvate kinase-3 (PK3; <a href="/entry/179050">179050</a>) are syntenic. By cell hybridization studies, <a href="#14" class="mim-tip-reference" title="Van Heyningen, V., Bobrow, M., Bodmer, W. F., Gardiner, S. E., Povey, S., Hopkinson, D. A. <strong>Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably, esterase D to 13.</strong> Ann. Hum. Genet. 38: 295-303, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1137344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1137344</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1975.tb00613.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1137344">Van Heyningen et al. (1975)</a> found that the MPI and PK3 loci are on chromosome 15. The murine Mpi gene is located on mouse chromosome 9 in the same linkage group as the gene for the LDL receptor (LDLR; <a href="/entry/606945">606945</a>) (<a href="#3" class="mim-tip-reference" title="Frank, S. L., Taylor, B. A., Lusis, A. J. <strong>Linkage of the mouse LDL receptor gene on chromosome 9.</strong> Genomics 5: 646-648, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2575592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2575592</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90037-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2575592">Frank et al., 1989</a>), which is on human chromosome 19. Human chromosome 19 carries glucosephosphate isomerase (GPI; <a href="/entry/172400">172400</a>). These genes may have had a common evolutionary origin but developed different specificities in the evolutionary lines of the 2 species. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2575592+1137344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with carbohydrate-deficient glycoprotein syndrome type Ib (CDG Ib, CDG1B; <a href="/entry/602579">602579</a>), <a href="#7" class="mim-tip-reference" title="Niehues, R., Hasilik, M., Alton, G., Korner, C., Schiebe-Sukumar, M., Koch, H. G., Zimmer, K.-P., Wu, R., Harms, E., Reiter, K., von Figura, K., Freeze, H. H., Harms, H. K., Marquardt, T. <strong>Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy.</strong> J. Clin. Invest. 101: 1414-1420, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9525984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9525984</a>] [<a href="https://doi.org/10.1172/JCI2350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9525984">Niehues et al. (1998)</a> identified a heterozygous mutation in the MPI gene (<a href="#0001">154550.0001</a>). <a href="#12" class="mim-tip-reference" title="Schollen, E., Dorland, L., de Koning, T. J., Van Diggelen, O. P., Huijmans, J. G. M., Marquardt, T., Babovic-Vuksanovic, D., Patterson, M., Imtiaz, F., Winchester, B., Adamowicz, M., Pronicka, E., Freeze, H., Matthijs, G. <strong>Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).</strong> Hum. Mutat. 16: 247-252, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980531</a>] [<a href="https://doi.org/10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980531">Schollen et al. (2000)</a> identified a second mutation (<a href="#0004">154550.0004</a>) in this patient, confirming compound heterozygosity and autosomal recessive inheritance. The mutation resulted in an unstable transcript and was barely detectable at the mRNA level. The findings emphasized the importance of mutation analysis at the genomic DNA level. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10980531+9525984" 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 patient with CDG Ib, <a href="#5" class="mim-tip-reference" title="Jaeken, J., Matthijs, G., Saudubray, J.-M., Dionisi-Vici, C., Bertini, E., de Lonlay, P., Henri, H., Carchon, H., Schollen, E., Van Schaftingen, E. <strong>Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. (Letter)</strong> Am. J. Hum. Genet. 62: 1535-1539, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585601</a>] [<a href="https://doi.org/10.1086/301873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585601">Jaeken et al. (1998)</a> identified compound heterozygosity for 2 mutations in the MPI gene (<a href="#0002">154550.0002</a>, <a href="#0003">154550.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585601" 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="#12" class="mim-tip-reference" title="Schollen, E., Dorland, L., de Koning, T. J., Van Diggelen, O. P., Huijmans, J. G. M., Marquardt, T., Babovic-Vuksanovic, D., Patterson, M., Imtiaz, F., Winchester, B., Adamowicz, M., Pronicka, E., Freeze, H., Matthijs, G. <strong>Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).</strong> Hum. Mutat. 16: 247-252, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980531</a>] [<a href="https://doi.org/10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980531">Schollen et al. (2000)</a> identified 8 different mutations in the MPI gene, including 7 novel mutations, in 7 patients with confirmed phosphomannose isomerase deficiency, including a patient previously reported by <a href="#7" class="mim-tip-reference" title="Niehues, R., Hasilik, M., Alton, G., Korner, C., Schiebe-Sukumar, M., Koch, H. G., Zimmer, K.-P., Wu, R., Harms, E., Reiter, K., von Figura, K., Freeze, H. H., Harms, H. K., Marquardt, T. <strong>Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy.</strong> J. Clin. Invest. 101: 1414-1420, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9525984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9525984</a>] [<a href="https://doi.org/10.1172/JCI2350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9525984">Niehues et al. (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10980531+9525984" 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="#15" class="mim-tip-reference" title="Vuillaumier-Barrot, S., Le Bizec, C., de Lonlay, P., Barnier, A., Mitchell, G., Pelletier, V., Prevost, C., Saudubray, J. M., Durand, G., Seta, N. <strong>Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.</strong> J. Med. Genet. 39: 849-851, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414827</a>] [<a href="https://doi.org/10.1136/jmg.39.11.849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414827">Vuillaumier-Barrot et al. (2002)</a> found that the protein-losing enteropathy-hepatic fibrosis syndrome described in the Saguenay-Lac-Saint-Jean region of Quebec by <a href="#8" class="mim-tip-reference" title="Pelletier, V. A., Galeano, N., Brochu, P., Morin, C. L., Weber, A. M., Roy, C. C. <strong>Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome.</strong> J. Pediat. 108: 61-65, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3080572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3080572</a>] [<a href="https://doi.org/10.1016/s0022-3476(86)80769-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3080572">Pelletier et al. (1986)</a> is caused by an arg295-to-his mutation in the MPI gene (R295H; <a href="#0005">154550.0005</a>), and is therefore a form of CDG Ib. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12414827+3080572" 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="McMorris, F. A., Chen, T.-R., Ricciuti, F., Tischfield, J., Creagan, R., Ruddle, F. H. <strong>Chromosome assignments in man of the genes for two hexosphosphate isomerases.</strong> Science 179: 1129-1131, 1973. Note: Retraction: Ruddle, F. H.; McMorris, F. A.: Assignment of mannose phosphate isomerase to human chromosome 7: a retraction. Birth Defects Orig. Art. Ser. 11(3): 248-250, 1975; also in Cytogenet. Cell Genet. 14: 418-420, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4120258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4120258</a>] [<a href="https://doi.org/10.1126/science.179.4078.1129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4120258">McMorris et al. (1973)</a> mapped the MPI gene to chromosome 7 and the GPI gene to chromosome 19; the mapping of the MPI gene to chromosome 7 was later retracted (<a href="#11" class="mim-tip-reference" title="Ruddle, F. H., McMorris, F. A. <strong>Assignment of mannose phosphate isomerase to human chromosome 7: a retraction.</strong> Cytogenet. Cell Genet. 14: 418-420, 1975. Note: Also in Birth Defects Orig. Art. Ser. 11(3): 248-250, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1088818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1088818</a>] [<a href="https://doi.org/10.1159/000130396" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1088818">Ruddle and McMorris, 1975</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1088818+4120258" 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> rs104894489 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894489;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/rs104894489?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=rs104894489" 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=rs104894489" 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 Ib (CDG1B; <a href="/entry/602579">602579</a>), <a href="#7" class="mim-tip-reference" title="Niehues, R., Hasilik, M., Alton, G., Korner, C., Schiebe-Sukumar, M., Koch, H. G., Zimmer, K.-P., Wu, R., Harms, E., Reiter, K., von Figura, K., Freeze, H. H., Harms, H. K., Marquardt, T. <strong>Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy.</strong> J. Clin. Invest. 101: 1414-1420, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9525984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9525984</a>] [<a href="https://doi.org/10.1172/JCI2350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9525984">Niehues et al. (1998)</a> identified a heterozygous 656G-A transition in the MPI gene, resulting in an arg219-to-gln (R219Q) substitution. The patient presented at age 11 months with diarrhea and vomiting, protein-losing enteropathy, recurrent thrombotic episodes, and life-threatening gastrointestinal bleeding. There was no psychomotor retardation. Treatment with oral mannose resulted in clinical improvement. The patient was heterozygous for the R219Q mutation, which was inherited from the father. By genome sequencing in the patient previously reported by <a href="#7" class="mim-tip-reference" title="Niehues, R., Hasilik, M., Alton, G., Korner, C., Schiebe-Sukumar, M., Koch, H. G., Zimmer, K.-P., Wu, R., Harms, E., Reiter, K., von Figura, K., Freeze, H. H., Harms, H. K., Marquardt, T. <strong>Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy.</strong> J. Clin. Invest. 101: 1414-1420, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9525984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9525984</a>] [<a href="https://doi.org/10.1172/JCI2350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9525984">Niehues et al. (1998)</a>, <a href="#12" class="mim-tip-reference" title="Schollen, E., Dorland, L., de Koning, T. J., Van Diggelen, O. P., Huijmans, J. G. M., Marquardt, T., Babovic-Vuksanovic, D., Patterson, M., Imtiaz, F., Winchester, B., Adamowicz, M., Pronicka, E., Freeze, H., Matthijs, G. <strong>Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).</strong> Hum. Mutat. 16: 247-252, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980531</a>] [<a href="https://doi.org/10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980531">Schollen et al. (2000)</a> identified a 1-bp insertion in exon 3 of the MPI gene (116insC; <a href="#0004">154550.0004</a>) on the maternal allele, confirming compound heterozygosity. The mutation resulted in an unstable transcript, barely detectable at the mRNA level. The authors emphasized the importance of mutation analysis at the genomic DNA level. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10980531+9525984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with congenital disorder of glycosylation type Ib (CDG1B; <a href="/entry/602579">602579</a>), <a href="#5" class="mim-tip-reference" title="Jaeken, J., Matthijs, G., Saudubray, J.-M., Dionisi-Vici, C., Bertini, E., de Lonlay, P., Henri, H., Carchon, H., Schollen, E., Van Schaftingen, E. <strong>Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. (Letter)</strong> Am. J. Hum. Genet. 62: 1535-1539, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585601</a>] [<a href="https://doi.org/10.1086/301873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585601">Jaeken et al. (1998)</a> identified compound heterozygosity for 2 mutations in the MPI gene: a 304C-T transition resulting in a ser102-to-leu (S102L) substitution, and a 413T-C transition resulting in a met138-to-thr (M138T) substitution (<a href="#0003">154550.0003</a>). Both mutations involve highly conserved residues and are situated near the active site as determined by x-ray crystallography. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585601" 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">rs104894495 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894495;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=rs104894495" 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=rs104894495" 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=RCV000015421" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015421" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015421</a>
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<p>For discussion of the met138-to-thr (M138T) mutation in the MPI gene that was found in compound heterozygous state in a patient with congenital disorder of glycosylation type Ib (CDG1B; <a href="/entry/602579">602579</a>) by <a href="#5" class="mim-tip-reference" title="Jaeken, J., Matthijs, G., Saudubray, J.-M., Dionisi-Vici, C., Bertini, E., de Lonlay, P., Henri, H., Carchon, H., Schollen, E., Van Schaftingen, E. <strong>Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. (Letter)</strong> Am. J. Hum. Genet. 62: 1535-1539, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585601</a>] [<a href="https://doi.org/10.1086/301873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585601">Jaeken et al. (1998)</a>, see <a href="#0002">154550.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib</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">rs786204593 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786204593;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=rs786204593" 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=rs786204593" 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=RCV000169342" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000169342" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000169342</a>
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<p>For discussion of the 1-bp insertion in the MPI gene (116insC) that was found in compound heterozygosity in a patient with congenital disorder of glycosylation type Ib (CDG1B; <a href="/entry/602579">602579</a>) by <a href="#12" class="mim-tip-reference" title="Schollen, E., Dorland, L., de Koning, T. J., Van Diggelen, O. P., Huijmans, J. G. M., Marquardt, T., Babovic-Vuksanovic, D., Patterson, M., Imtiaz, F., Winchester, B., Adamowicz, M., Pronicka, E., Freeze, H., Matthijs, G. <strong>Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).</strong> Hum. Mutat. 16: 247-252, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980531</a>] [<a href="https://doi.org/10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980531">Schollen et al. (2000)</a>, see <a href="#0001">154550.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10980531" 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> rs28928906 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928906;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/rs28928906?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=rs28928906" 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=rs28928906" 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=RCV000015423" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015423" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015423</a>
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<p><a href="#8" class="mim-tip-reference" title="Pelletier, V. A., Galeano, N., Brochu, P., Morin, C. L., Weber, A. M., Roy, C. C. <strong>Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome.</strong> J. Pediat. 108: 61-65, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3080572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3080572</a>] [<a href="https://doi.org/10.1016/s0022-3476(86)80769-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3080572">Pelletier et al. (1986)</a> described a fatal syndrome of protein-losing enteropathy and congenital hepatic fibrosis in the Saguenay-Lac-Saint-Jean (SLSJ) region of Quebec. Clinically it resembled congenital disorder of glycosylation type Ib (CDG1B; <a href="/entry/602579">602579</a>), with intractable diarrhea, hypoglycemia, hepatomegaly, vomiting, and malnutrition. For this reason, <a href="#15" class="mim-tip-reference" title="Vuillaumier-Barrot, S., Le Bizec, C., de Lonlay, P., Barnier, A., Mitchell, G., Pelletier, V., Prevost, C., Saudubray, J. M., Durand, G., Seta, N. <strong>Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.</strong> J. Med. Genet. 39: 849-851, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414827</a>] [<a href="https://doi.org/10.1136/jmg.39.11.849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414827">Vuillaumier-Barrot et al. (2002)</a> studied PMI activity in leukocytes of 3 parents of 2 of the affected Canadian children. All 3 showed partial deficiency of leukocyte PMI activity and were heterozygous for an 884G-A transition in exon 7 of the MPI gene, resulting in an arg295-to-his (R295H) mutation. A patient newly diagnosed with CDG Ib from Nantes in Brittany, France, with the same clinical syndrome was found to be homozygous for the R295H mutation and also for nearby polymorphic markers. An identical variant was found for each marker on at least one chromosome of each of the SLSJ parents, consistent with migration from Brittany to Quebec. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12414827+3080572" 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="#Chern1975" class="mim-tip-reference" title="Chern, C. J., Croce, C. M. <strong>Confirmation of the synteny of the human genes for mannose phosphate isomerase and pyruvate kinase and of their assignment to chromosome 15.</strong> Cytogenet. Cell Genet. 15: 299-305, 1975.">Chern and Croce (1975)</a>; <a href="#Chern1977" class="mim-tip-reference" title="Chern, C. J., Kennett, R., Engel, E., Mellman, W. J., Croce, C. M. <strong>Assignment of the structural genes for the alpha subunit of hexosaminidase A, mannosephosphate isomerase and pyruvate kinase to the region q22-qter of human chromosome 15.</strong> Somat. Cell Genet. 3: 553-560, 1977.">Chern et al. (1977)</a>; <a href="#Ritter1974" class="mim-tip-reference" title="Ritter, H., Friedrichson, U., Schmitt, J. <strong>Genetic variation of mannose phosphate isomerase in man.</strong> Humangenetik 22: 261-262, 1974.">Ritter et al. (1974)</a>
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Cytogenet. Cell Genet. 15: 299-305, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1222586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1222586</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1222586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000130527" target="_blank">Full Text</a>]
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<strong>Assignment of the structural genes for the alpha subunit of hexosaminidase A, mannosephosphate isomerase and pyruvate kinase to the region q22-qter of human chromosome 15.</strong>
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Somat. Cell Genet. 3: 553-560, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/341373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">341373</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=341373" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01539065" target="_blank">Full Text</a>]
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Genomics 5: 646-648, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2575592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2575592</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2575592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(89)90037-2" target="_blank">Full Text</a>]
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Gonzalez, P. S., O'Prey, J., Cardaci, S., Barthet, V. J. A., Sakamaki, J., Beaumatin, F., Roseweir, A., Gay, D. M., Mackay, G., Malviya, G., Kania, E., Ritchie, S., and 11 others.
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<strong>Mannose impairs tumour growth and enhances chemotherapy.</strong>
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Nature 563: 719-723, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30464341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30464341</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30464341" 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/s41586-018-0729-3" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Jaeken1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jaeken, J., Matthijs, G., Saudubray, J.-M., Dionisi-Vici, C., Bertini, E., de Lonlay, P., Henri, H., Carchon, H., Schollen, E., Van Schaftingen, E.
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<strong>Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. (Letter)</strong>
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Am. J. Hum. Genet. 62: 1535-1539, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585601</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585601" 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/10.1086/301873" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="McMorris1973" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McMorris, F. A., Chen, T.-R., Ricciuti, F., Tischfield, J., Creagan, R., Ruddle, F. H.
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<strong>Chromosome assignments in man of the genes for two hexosphosphate isomerases.</strong>
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Science 179: 1129-1131, 1973. Note: Retraction: Ruddle, F. H.; McMorris, F. A.: Assignment of mannose phosphate isomerase to human chromosome 7: a retraction. Birth Defects Orig. Art. Ser. 11(3): 248-250, 1975; also in Cytogenet. Cell Genet. 14: 418-420, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4120258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4120258</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4120258" 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/10.1126/science.179.4078.1129" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Niehues1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Niehues, R., Hasilik, M., Alton, G., Korner, C., Schiebe-Sukumar, M., Koch, H. G., Zimmer, K.-P., Wu, R., Harms, E., Reiter, K., von Figura, K., Freeze, H. H., Harms, H. K., Marquardt, T.
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<strong>Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy.</strong>
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J. Clin. Invest. 101: 1414-1420, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9525984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9525984</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9525984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI2350" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Pelletier1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pelletier, V. A., Galeano, N., Brochu, P., Morin, C. L., Weber, A. M., Roy, C. C.
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<strong>Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome.</strong>
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J. Pediat. 108: 61-65, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3080572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3080572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3080572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(86)80769-7" target="_blank">Full Text</a>]
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<a id="Proudfoot1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Proudfoot, A. E. I., Turcatti, G., Wells, T. N. C., Payton, M. A., Smith, D. J.
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<strong>Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase.</strong>
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Europ. J. Biochem. 219: 415-423, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8307007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8307007</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8307007" 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/10.1111/j.1432-1033.1994.tb19954.x" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Ritter1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ritter, H., Friedrichson, U., Schmitt, J.
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<strong>Genetic variation of mannose phosphate isomerase in man.</strong>
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Humangenetik 22: 261-262, 1974.
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<a id="11" class="mim-anchor"></a>
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<a id="Ruddle1975" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ruddle, F. H., McMorris, F. A.
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<strong>Assignment of mannose phosphate isomerase to human chromosome 7: a retraction.</strong>
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Cytogenet. Cell Genet. 14: 418-420, 1975. Note: Also in Birth Defects Orig. Art. Ser. 11(3): 248-250, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1088818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1088818</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1088818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000130396" target="_blank">Full Text</a>]
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<a id="Schollen2000" class="mim-anchor"></a>
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Schollen, E., Dorland, L., de Koning, T. J., Van Diggelen, O. P., Huijmans, J. G. M., Marquardt, T., Babovic-Vuksanovic, D., Patterson, M., Imtiaz, F., Winchester, B., Adamowicz, M., Pronicka, E., Freeze, H., Matthijs, G.
|
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<strong>Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).</strong>
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Hum. Mutat. 16: 247-252, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980531</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10980531" 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/10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Shows1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shows, T. B.
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<strong>Linkage of loci for human pyruvate kinase and mannosephosphate isomerase in somatic cell hybrids. (Abstract)</strong>
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Am. J. Hum. Genet. 24: 13A only, 1972.
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<a id="Van Heyningen1975" class="mim-anchor"></a>
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Van Heyningen, V., Bobrow, M., Bodmer, W. F., Gardiner, S. E., Povey, S., Hopkinson, D. A.
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<strong>Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably, esterase D to 13.</strong>
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Ann. Hum. Genet. 38: 295-303, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1137344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1137344</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1137344" 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/10.1111/j.1469-1809.1975.tb00613.x" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Vuillaumier-Barrot2002" class="mim-anchor"></a>
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<div class="">
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Vuillaumier-Barrot, S., Le Bizec, C., de Lonlay, P., Barnier, A., Mitchell, G., Pelletier, V., Prevost, C., Saudubray, J. M., Durand, G., Seta, N.
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<strong>Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.</strong>
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J. Med. Genet. 39: 849-851, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414827</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.39.11.849" target="_blank">Full Text</a>]
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<br />
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/14/2019
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - reorganized : 6/26/2007<br>Marla J. F. O'Neill - updated : 10/30/2006<br>Victor A. McKusick - updated : 5/4/2004<br>Victor A. McKusick - updated : 9/26/2000<br>Jennifer P. Macke - updated : 8/6/1999<br>Victor A. McKusick - updated : 6/23/1998<br>Victor A. McKusick - updated : 5/8/1998
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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alopez : 02/14/2019
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<span class="mim-text-font">
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carol : 09/12/2017<br>carol : 03/27/2017<br>carol : 10/13/2016<br>alopez : 05/21/2015<br>mcolton : 5/19/2015<br>terry : 10/26/2011<br>carol : 6/26/2007<br>ckniffin : 6/22/2007<br>wwang : 10/30/2006<br>tkritzer : 5/24/2004<br>terry : 5/4/2004<br>ckniffin : 6/5/2002<br>mcapotos : 10/3/2000<br>mcapotos : 9/26/2000<br>carol : 2/17/2000<br>mgross : 8/6/1999<br>alopez : 7/1/1998<br>terry : 6/23/1998<br>terry : 6/23/1998<br>carol : 5/8/1998<br>mimadm : 4/17/1994<br>warfield : 3/1/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>carol : 12/18/1989<br>ddp : 10/27/1989
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<strong>*</strong> 154550
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MANNOSEPHOSPHATE ISOMERASE; MPI
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PHOSPHOMANNOSE ISOMERASE 1; PMI1; PMI
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<strong><em>HGNC Approved Gene Symbol: MPI</em></strong>
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<strong>SNOMEDCT:</strong> 1231141008;
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<em>
|
|
Cytogenetic location: 15q24.1-q24.2
|
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:74,890,042-74,902,219 </span>
|
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</em>
|
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</strong>
|
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
|
</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
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</thead>
|
|
<tbody>
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|
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<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
15q24.1-q24.2
|
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</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
Congenital disorder of glycosylation, type Ib
|
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
602579
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
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|
|
|
|
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</tr>
|
|
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|
|
</tbody>
|
|
</table>
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|
</div>
|
|
</div>
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<div>
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<br />
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|
</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
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</h4>
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<span class="mim-text-font">
|
|
<p>Mannosephosphate isomerase (MPI), also known as phosphomannose isomerase (PMI; EC 5.3.1.8), catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives which are required for most glycosylation reactions (Proudfoot et al., 1994). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
|
<span class="mim-text-font">
|
|
<p>Proudfoot et al. (1994) purified human phosphomannose isomerase from placenta tissue. The authors used sequence information obtained from internal fragments of the protein to design degenerate oligonucleotides which were used to amplify a fragment of the PMI cDNA. Using this fragment to screen a human testis cDNA library, Proudfoot et al. (1994) isolated a full-length PMI cDNA. The PMI gene encodes a predicted 423-amino acid polypeptide. Northern blot analysis detected a single 1.8-kb PMI mRNA in all tissues tested, with the highest levels in heart, brain, and skeletal muscle. Recombinant PMI expressed in E. coli had very similar activity to the native enzyme. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
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|
|
<span class="mim-text-font">
|
|
<p>Gonzalez et al. (2018) reported that the mannosaccharide mannose causes growth retardation in several tumor types in vitro, and enhances cell death in response to major forms of chemotherapy. Gonzalez et al. (2018) then showed that these effects also occur in vivo in mice following the oral administration of mannose, without significantly affecting the weight and health of the animals. Mechanistically, mannose is taken up by the same transporter(s) as glucose but accumulates as mannose-6-phosphate in cells, and this impairs the further metabolism of glucose in glycolysis, the tricarboxylic acid cycle, the pentose phosphate pathway, and glycan synthesis. As a result, the administration of mannose in combination with conventional chemotherapy affects levels of antiapoptotic proteins of the Bcl2 (151430) family, leading to sensitization to cell death. Gonzalez et al. (2018) further showed that susceptibility to mannose is dependent on the levels of phosphomannose isomerase (PMI). Cells with low levels of PMI are sensitive to mannose, whereas cells with high levels are resistant, but can be made sensitive by RNA interference-mediated depletion of the enzyme. In addition, Gonzalez et al. (2018) used tissue microarrays to show that PMI levels also vary greatly between different patients and different tumor types, indicating that PMI levels could be used as a biomarker to direct the successful administration of mannose. The authors suggested that the administration of mannose could be a simple, safe, and selective therapy in the treatment of cancer, and could be applicable to multiple tumor types. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Schollen et al. (2000) determined that the MPI gene contains 8 exons and spans 5 kb. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By human-mouse cell hybridization, Shows (1972) concluded that mannosephosphate isomerase and pyruvate kinase-3 (PK3; 179050) are syntenic. By cell hybridization studies, Van Heyningen et al. (1975) found that the MPI and PK3 loci are on chromosome 15. The murine Mpi gene is located on mouse chromosome 9 in the same linkage group as the gene for the LDL receptor (LDLR; 606945) (Frank et al., 1989), which is on human chromosome 19. Human chromosome 19 carries glucosephosphate isomerase (GPI; 172400). These genes may have had a common evolutionary origin but developed different specificities in the evolutionary lines of the 2 species. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a patient with carbohydrate-deficient glycoprotein syndrome type Ib (CDG Ib, CDG1B; 602579), Niehues et al. (1998) identified a heterozygous mutation in the MPI gene (154550.0001). Schollen et al. (2000) identified a second mutation (154550.0004) in this patient, confirming compound heterozygosity and autosomal recessive inheritance. The mutation resulted in an unstable transcript and was barely detectable at the mRNA level. The findings emphasized the importance of mutation analysis at the genomic DNA level. </p><p>In a patient with CDG Ib, Jaeken et al. (1998) identified compound heterozygosity for 2 mutations in the MPI gene (154550.0002, 154550.0003). </p><p>Schollen et al. (2000) identified 8 different mutations in the MPI gene, including 7 novel mutations, in 7 patients with confirmed phosphomannose isomerase deficiency, including a patient previously reported by Niehues et al. (1998). </p><p>Vuillaumier-Barrot et al. (2002) found that the protein-losing enteropathy-hepatic fibrosis syndrome described in the Saguenay-Lac-Saint-Jean region of Quebec by Pelletier et al. (1986) is caused by an arg295-to-his mutation in the MPI gene (R295H; 154550.0005), and is therefore a form of CDG Ib. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>McMorris et al. (1973) mapped the MPI gene to chromosome 7 and the GPI gene to chromosome 19; the mapping of the MPI gene to chromosome 7 was later retracted (Ruddle and McMorris, 1975). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>5 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MPI, ARG219GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894489,
|
|
|
|
|
|
gnomAD: rs104894489,
|
|
|
|
|
|
ClinVar: RCV000015419, RCV001818161, RCV004742227
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital disorder of glycosylation type Ib (CDG1B; 602579), Niehues et al. (1998) identified a heterozygous 656G-A transition in the MPI gene, resulting in an arg219-to-gln (R219Q) substitution. The patient presented at age 11 months with diarrhea and vomiting, protein-losing enteropathy, recurrent thrombotic episodes, and life-threatening gastrointestinal bleeding. There was no psychomotor retardation. Treatment with oral mannose resulted in clinical improvement. The patient was heterozygous for the R219Q mutation, which was inherited from the father. By genome sequencing in the patient previously reported by Niehues et al. (1998), Schollen et al. (2000) identified a 1-bp insertion in exon 3 of the MPI gene (116insC; 154550.0004) on the maternal allele, confirming compound heterozygosity. The mutation resulted in an unstable transcript, barely detectable at the mRNA level. The authors emphasized the importance of mutation analysis at the genomic DNA level. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MPI, SER102LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894494,
|
|
|
|
|
|
gnomAD: rs104894494,
|
|
|
|
|
|
ClinVar: RCV000015420
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital disorder of glycosylation type Ib (CDG1B; 602579), Jaeken et al. (1998) identified compound heterozygosity for 2 mutations in the MPI gene: a 304C-T transition resulting in a ser102-to-leu (S102L) substitution, and a 413T-C transition resulting in a met138-to-thr (M138T) substitution (154550.0003). Both mutations involve highly conserved residues and are situated near the active site as determined by x-ray crystallography. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MPI, MET138THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894495,
|
|
|
|
|
|
|
|
ClinVar: RCV000015421
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the met138-to-thr (M138T) mutation in the MPI gene that was found in compound heterozygous state in a patient with congenital disorder of glycosylation type Ib (CDG1B; 602579) by Jaeken et al. (1998), see 154550.0002. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MPI, 1-BP INS, 166C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786204593,
|
|
|
|
|
|
|
|
ClinVar: RCV000169342
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp insertion in the MPI gene (116insC) that was found in compound heterozygosity in a patient with congenital disorder of glycosylation type Ib (CDG1B; 602579) by Schollen et al. (2000), see 154550.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MPI, ARG295HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928906,
|
|
|
|
|
|
gnomAD: rs28928906,
|
|
|
|
|
|
ClinVar: RCV000015423
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Pelletier et al. (1986) described a fatal syndrome of protein-losing enteropathy and congenital hepatic fibrosis in the Saguenay-Lac-Saint-Jean (SLSJ) region of Quebec. Clinically it resembled congenital disorder of glycosylation type Ib (CDG1B; 602579), with intractable diarrhea, hypoglycemia, hepatomegaly, vomiting, and malnutrition. For this reason, Vuillaumier-Barrot et al. (2002) studied PMI activity in leukocytes of 3 parents of 2 of the affected Canadian children. All 3 showed partial deficiency of leukocyte PMI activity and were heterozygous for an 884G-A transition in exon 7 of the MPI gene, resulting in an arg295-to-his (R295H) mutation. A patient newly diagnosed with CDG Ib from Nantes in Brittany, France, with the same clinical syndrome was found to be homozygous for the R295H mutation and also for nearby polymorphic markers. An identical variant was found for each marker on at least one chromosome of each of the SLSJ parents, consistent with migration from Brittany to Quebec. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Chern and Croce (1975); Chern et al. (1977); Ritter et al. (1974)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chern, C. J., Croce, C. M.
|
|
<strong>Confirmation of the synteny of the human genes for mannose phosphate isomerase and pyruvate kinase and of their assignment to chromosome 15.</strong>
|
|
Cytogenet. Cell Genet. 15: 299-305, 1975.
|
|
|
|
|
|
[PubMed: 1222586]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000130527]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chern, C. J., Kennett, R., Engel, E., Mellman, W. J., Croce, C. M.
|
|
<strong>Assignment of the structural genes for the alpha subunit of hexosaminidase A, mannosephosphate isomerase and pyruvate kinase to the region q22-qter of human chromosome 15.</strong>
|
|
Somat. Cell Genet. 3: 553-560, 1977.
|
|
|
|
|
|
[PubMed: 341373]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01539065]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Frank, S. L., Taylor, B. A., Lusis, A. J.
|
|
<strong>Linkage of the mouse LDL receptor gene on chromosome 9.</strong>
|
|
Genomics 5: 646-648, 1989.
|
|
|
|
|
|
[PubMed: 2575592]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(89)90037-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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<strong>Assignment of mannose phosphate isomerase to human chromosome 7: a retraction.</strong>
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<strong>Linkage of loci for human pyruvate kinase and mannosephosphate isomerase in somatic cell hybrids. (Abstract)</strong>
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<strong>Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably, esterase D to 13.</strong>
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Vuillaumier-Barrot, S., Le Bizec, C., de Lonlay, P., Barnier, A., Mitchell, G., Pelletier, V., Prevost, C., Saudubray, J. M., Durand, G., Seta, N.
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