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<title>
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Entry
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- *601336 - MANNOSYL-OLIGOSACCHARIDE GLYCOSIDASE; MOGS
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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="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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</ul>
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</form>
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<p />
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</div>
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<div class="container hidden-print">
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<div id="mimAlertBanner">
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</div>
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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">*601336</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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="#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="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601336">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
|
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
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<div style="display: table-row">
|
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
|
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</div>
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</a>
|
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</h4>
|
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</div>
|
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
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<span class="panel-title">
|
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<span class="small">
|
|
<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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|
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000115275;t=ENST00000448666" 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=7841" 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=601336" 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=ENSG00000115275;t=ENST00000448666" 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_001146158,NM_006302" 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_006302" 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=601336" 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=03214&isoform_id=03214_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/MOGS" 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/2344810,19913138,62020522,109658842,109658846,116242490,119620058,119620059,149999606,158258543,158258875,194388092,225903430,308219746" 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/Q13724" 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=7841" 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=ENSG00000115275;t=ENST00000448666" 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=MOGS" 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=MOGS" 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+7841" 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/MOGS" 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:7841" 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/7841" 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=chr2&hgg_gene=ENST00000448666.7&hgg_start=74461057&hgg_end=74465382&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">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<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:24862" 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=601336[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=601336[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/MOGS/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/ENSG00000115275" 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.gwascentral.org/search?q=MOGS" 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=MOGS" 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=MOGS&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/PA164723075" 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">
|
|
<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:24862" 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/FBgn0030289.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:1929872" 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/MOGS#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:1929872" 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/7841/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=7841" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00008775;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070112-412" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<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>
|
|
<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:7841" 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=MOGS&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>
|
|
<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> 725028009<br />
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">ICD+</a>
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</div>
|
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
601336
|
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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>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
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|
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MANNOSYL-OLIGOSACCHARIDE GLYCOSIDASE; MOGS
|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
GLUCOSIDASE I; GCS1
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MOGS" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MOGS</a></em></strong>
|
|
</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/2/382?start=-3&limit=10&highlight=382">2p13.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:74461057-74465382&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'})">2:74,461,057-74,465,382</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/601336" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/601336" 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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<p>The processing of N-linked glycoproteins is initiated by the action of glucosidase I, which cleaves specifically the distal alpha-1,2-linked glucose residue in the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor after its en bloc transfer from dolichyl diphosphate to the nascent polypeptide chain (<a href="#6" class="mim-tip-reference" title="Kornfeld, R., Kornfeld, S. <strong>Assembly of asparagine-linked oligosaccharides.</strong> Annu. Rev. Biochem. 54: 631-664, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3896128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3896128</a>] [<a href="https://doi.org/10.1146/annurev.bi.54.070185.003215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3896128">Kornfeld and Kornfeld, 1985</a>). The resulting Glc(2)-Man(9)-GlcNAc(2) intermediate is then further modified by glucosidase II and several ER- and Golgi-resident mannosidases and glycosyltransferases, finally yielding a complex array of glycan structures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3896128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Kalz-Fuller, B., Bieberich, E., Bause, E. <strong>Cloning and expression of glucosidase I from human hippocampus.</strong> Europ. J. Biochem. 231: 344-351, 1995. Note: Erratum: Europ. J. Biochem. 249: 912 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7635146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7635146</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1995.tb20706.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7635146">Kalz-Fuller et al. (1995)</a> used the amino acid sequence of tryptic peptides of the pig liver glucosidase I enzyme to synthesize degenerate oligonucleotides that were used to amplify a specific cDNA probe by PCR with porcine cDNA. Screening of a human hippocampus cDNA library with this probe resulted in the isolation of several glucosidase I-specific clones, allowing the reconstruction of a full-length human cDNA of 2,881 bp. The oligonucleotide sequence showed no homology to other processing enzymes cloned to that time. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7635146" 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 fluorescence in situ hybridization, <a href="#4" class="mim-tip-reference" title="Kalz-Fuller, B., Heidrich-Kaul, C., Nothen, M., Bause, E., Schwanitz, G. <strong>Localization of the human glucosidase I gene to chromosome 2p12-p13 by fluorescence in situ hybridization and PCR analysis of somatic cell hybrids.</strong> Genomics 34: 442-443, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786151</a>] [<a href="https://doi.org/10.1006/geno.1996.0313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8786151">Kalz-Fuller et al. (1996)</a> mapped the GCS1 gene to chromosome 2p13-p12. They confirmed the localization with PCR-based analysis of somatic cell hybrids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8786151" 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="#1" class="mim-tip-reference" title="De Praeter, C. M., Gerwig, G. J., Bause, E., Nuytinck, L. K., Vliegenthart, J. F. G., Breuer, W., Kamerling, J. P., Espeel, M. F., Martin, J.-J. R., De Paepe, A. M., Chan, N. W. C., Dacremont, G. A., Van Coster, R. N. <strong>A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.</strong> Am. J. Hum. Genet. 66: 1744-1756, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10788335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10788335</a>] [<a href="https://doi.org/10.1086/302948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10788335">De Praeter et al. (2000)</a> identified a glucosidase I defect in a neonate with severe generalized hypotonia and dysmorphic features consistent with congenital disorder of glycosylation type IIb (CDG2B; <a href="/entry/606056">606056</a>). Molecular studies showed that the patient was a compound heterozygote for 2 missense mutations in the GCS1 gene (<a href="#0001">601336.0001</a>-<a href="#0002">601336.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10788335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sibs with CDG2B, <a href="#7" class="mim-tip-reference" title="Sadat, M. A., Moir, S., Chun, T.-W., Lusso, P., Kaplan, G., Wolfe, L., Memoli, M. J., He, M., Vega, H., Kim, L. J. Y., Huang, Y., Hussein, N., and 28 others. <strong>Glycosylation, hypogammaglobulinemia, and resistance to viral infections.</strong> New. Eng. J. Med. 370: 1615-1625, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24716661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24716661</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24716661[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa1302846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24716661">Sadat et al. (2014)</a> identified compound heterozygous mutations in the MOGS gene (<a href="#0003">601336.0003</a> and <a href="#0004">601336.0004</a>). The mutations resulted in lack of detectable protein expression. Each unaffected parent was heterozygous for 1 of the mutant alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24716661" 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 study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), <a href="#2" class="mim-tip-reference" title="Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. <strong>High-throughput discovery of novel developmental phenotypes.</strong> Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>] [<a href="https://doi.org/10.1038/nature19356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27626380">Dickinson et al. (2016)</a> found that knockout of the mouse homolog of human MOGS is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>4 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=601336[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121909291 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909291;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/rs121909291?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=rs121909291" 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=rs121909291" 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 neonate with congenital disorder of glycosylation type IIb (CDG2B; <a href="/entry/606056">606056</a>), <a href="#1" class="mim-tip-reference" title="De Praeter, C. M., Gerwig, G. J., Bause, E., Nuytinck, L. K., Vliegenthart, J. F. G., Breuer, W., Kamerling, J. P., Espeel, M. F., Martin, J.-J. R., De Paepe, A. M., Chan, N. W. C., Dacremont, G. A., Van Coster, R. N. <strong>A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.</strong> Am. J. Hum. Genet. 66: 1744-1756, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10788335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10788335</a>] [<a href="https://doi.org/10.1086/302948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10788335">De Praeter et al. (2000)</a> identified compound heterozygosity for 2 missense mutations in the GCS1 gene: a 1587G-C transition resulting in an arg486-to-thr (R486T) substitution, and a 2085T-C transition resulting in a phe652-to-leu (F652L; <a href="#0002">601336.0002</a>) substitution. The mother was heterozygous for the former mutation, whereas the father was heterozygous for the latter. The patient was the first child of second-cousin parents and presented with severe generalized hypotonia and dysmorphic features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10788335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb</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">rs121909292 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909292;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=rs121909292" 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=rs121909292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the phe652-to-leu (F652L) mutation found in compound heterozygous state in a patient with congenital disorder of glycosylation type IIb (CDG2B; <a href="/entry/606056">606056</a>) by <a href="#1" class="mim-tip-reference" title="De Praeter, C. M., Gerwig, G. J., Bause, E., Nuytinck, L. K., Vliegenthart, J. F. G., Breuer, W., Kamerling, J. P., Espeel, M. F., Martin, J.-J. R., De Paepe, A. M., Chan, N. W. C., Dacremont, G. A., Van Coster, R. N. <strong>A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.</strong> Am. J. Hum. Genet. 66: 1744-1756, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10788335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10788335</a>] [<a href="https://doi.org/10.1086/302948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10788335">De Praeter et al. (2000)</a>, see <a href="#0001">601336.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10788335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb</strong>
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MOGS, GLN124TER (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777323);toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs587777323)</a>
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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> rs587777323 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777323;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/rs587777323?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=rs587777323" 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=rs587777323" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 sibs with congenital disorder of glycosylation type IIb (CDG2B; <a href="/entry/606056">606056</a>), <a href="#7" class="mim-tip-reference" title="Sadat, M. A., Moir, S., Chun, T.-W., Lusso, P., Kaplan, G., Wolfe, L., Memoli, M. J., He, M., Vega, H., Kim, L. J. Y., Huang, Y., Hussein, N., and 28 others. <strong>Glycosylation, hypogammaglobulinemia, and resistance to viral infections.</strong> New. Eng. J. Med. 370: 1615-1625, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24716661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24716661</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24716661[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa1302846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24716661">Sadat et al. (2014)</a> identified compound heterozygous mutations in the MOGS gene. The maternal allele carried a c.370C-T transition, predicted to result in a gln124-to-ter (Q124X) substitution; the mutation resulted in nonsense-mediated mRNA decay. The paternal allele had 2 mutations: a c.65C-A transversion, predicted to result in an ala22-to-glu (A22E) substitution, and a c.329G-A transition, predicted to result in an arg110-to-his (R110H) substitution (<a href="#0004">601336.0004</a>). The c.65C-A mutation affected splicing and resulted in nonsense-mediated mRNA decay, and the R110H mutant protein was rapidly degraded by the proteasome. Immunoblot analysis of patient cells showed lack of detectable MOGS protein, consistent with a loss of function. The patients had global developmental delay, hypotonia, seizures, dysmorphic features, and hypogammaglobulinemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24716661" 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="#5" class="mim-tip-reference" title="Kane, M. S., Davids, M., Adams, C., Wolfe, L. A., Cheung, H. W., Gropman, A., Huang, Y., NISC Comparative Sequencing Program, Ng, B. G., Freeze, H. H., Adams, D. R., Gahl, W. A., Boerkoel, C. F. <strong>Mitotic intragenic recombination: a mechanism of survival for several congenital disorders of glycosylation.</strong> Am. J. Hum. Genet. 98: 339-346, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805780[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.12.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26805780">Kane et al. (2016)</a> found that fibroblasts and blood derived from the sibs reported by <a href="#7" class="mim-tip-reference" title="Sadat, M. A., Moir, S., Chun, T.-W., Lusso, P., Kaplan, G., Wolfe, L., Memoli, M. J., He, M., Vega, H., Kim, L. J. Y., Huang, Y., Hussein, N., and 28 others. <strong>Glycosylation, hypogammaglobulinemia, and resistance to viral infections.</strong> New. Eng. J. Med. 370: 1615-1625, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24716661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24716661</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24716661[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa1302846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24716661">Sadat et al. (2014)</a> had increased amounts of nonparental genotypes surrounding the inherited variants. Detailed analysis indicated that there were some somatic genotypes with the wildtype allele. These findings suggested that reciprocal mitotic recombination can generate wildtype alleles in somatic cells, which may contribute to the survival and the variable expressivity seen in individuals with compound heterozygous mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24716661+26805780" 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 IIb</strong>
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MOGS, ALA22GLU (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs753961807;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs753961807</a>) AND ARG110HIS
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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> rs753961807 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs753961807;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/rs753961807?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=rs753961807" 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=rs753961807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs863225089 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863225089;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=rs863225089" 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=rs863225089" 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=RCV000114957 OR RCV000201602 OR RCV001857297" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000114957, RCV000201602, RCV001857297" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000114957...</a>
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<p>For discussion of the ala22-to-glu (A22E) and arg110-to-his (R110H) mutations found in cis on the paternal allele in compound heterozygous state in a patient with congenital disorder of glycosylation type IIb (CDG2B; <a href="/entry/606056">606056</a>) by <a href="#7" class="mim-tip-reference" title="Sadat, M. A., Moir, S., Chun, T.-W., Lusso, P., Kaplan, G., Wolfe, L., Memoli, M. J., He, M., Vega, H., Kim, L. J. Y., Huang, Y., Hussein, N., and 28 others. <strong>Glycosylation, hypogammaglobulinemia, and resistance to viral infections.</strong> New. Eng. J. Med. 370: 1615-1625, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24716661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24716661</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24716661[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa1302846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24716661">Sadat et al. (2014)</a>, see <a href="#0003">601336.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24716661" 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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De Praeter, C. M., Gerwig, G. J., Bause, E., Nuytinck, L. K., Vliegenthart, J. F. G., Breuer, W., Kamerling, J. P., Espeel, M. F., Martin, J.-J. R., De Paepe, A. M., Chan, N. W. C., Dacremont, G. A., Van Coster, R. N.
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<strong>A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.</strong>
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Am. J. Hum. Genet. 66: 1744-1756, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10788335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10788335</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10788335" 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/10.1086/302948" target="_blank">Full Text</a>]
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
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Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature19356" target="_blank">Full Text</a>]
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Kalz-Fuller, B., Bieberich, E., Bause, E.
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<strong>Cloning and expression of glucosidase I from human hippocampus.</strong>
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Europ. J. Biochem. 231: 344-351, 1995. Note: Erratum: Europ. J. Biochem. 249: 912 only, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7635146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7635146</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7635146" 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.1432-1033.1995.tb20706.x" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
|
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<a id="Kalz-Fuller1996" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Kalz-Fuller, B., Heidrich-Kaul, C., Nothen, M., Bause, E., Schwanitz, G.
|
|
<strong>Localization of the human glucosidase I gene to chromosome 2p12-p13 by fluorescence in situ hybridization and PCR analysis of somatic cell hybrids.</strong>
|
|
Genomics 34: 442-443, 1996.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786151</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8786151" 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/10.1006/geno.1996.0313" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
|
|
<a id="Kane2016" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kane, M. S., Davids, M., Adams, C., Wolfe, L. A., Cheung, H. W., Gropman, A., Huang, Y., NISC Comparative Sequencing Program, Ng, B. G., Freeze, H. H., Adams, D. R., Gahl, W. A., Boerkoel, C. F.
|
|
<strong>Mitotic intragenic recombination: a mechanism of survival for several congenital disorders of glycosylation.</strong>
|
|
Am. J. Hum. Genet. 98: 339-346, 2016.
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26805780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26805780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26805780[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26805780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2015.12.007" target="_blank">Full Text</a>]
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</p>
|
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</div>
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</li>
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|
|
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<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Kornfeld1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kornfeld, R., Kornfeld, S.
|
|
<strong>Assembly of asparagine-linked oligosaccharides.</strong>
|
|
Annu. Rev. Biochem. 54: 631-664, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3896128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3896128</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3896128" 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/10.1146/annurev.bi.54.070185.003215" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Sadat2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Sadat, M. A., Moir, S., Chun, T.-W., Lusso, P., Kaplan, G., Wolfe, L., Memoli, M. J., He, M., Vega, H., Kim, L. J. Y., Huang, Y., Hussein, N., and 28 others.
|
|
<strong>Glycosylation, hypogammaglobulinemia, and resistance to viral infections.</strong>
|
|
New. Eng. J. Med. 370: 1615-1625, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24716661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24716661</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24716661[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24716661" 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/10.1056/NEJMoa1302846" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Ada Hamosh - updated : 02/17/2017
|
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Cassandra L. Kniffin - updated : 2/24/2016<br>Cassandra L. Kniffin - updated : 4/23/2014<br>Victor A. McKusick - updated : 7/25/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Victor A. McKusick : 7/5/1996
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
carol : 01/31/2018
|
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</span>
|
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</div>
|
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</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
carol : 03/26/2017<br>alopez : 02/17/2017<br>alopez : 02/29/2016<br>ckniffin : 2/24/2016<br>carol : 4/9/2015<br>carol : 4/25/2014<br>mcolton : 4/24/2014<br>ckniffin : 4/23/2014<br>terry : 8/9/2012<br>carol : 6/27/2007<br>ckniffin : 6/22/2007<br>carol : 6/22/2001<br>carol : 6/22/2001<br>carol : 8/2/2000<br>terry : 7/25/2000<br>terry : 7/24/1996<br>mark : 7/5/1996<br>mark : 7/5/1996
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
|
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<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 601336
|
|
</span>
|
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</h3>
|
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</div>
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<div>
|
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<h3>
|
|
<span class="mim-font">
|
|
|
|
MANNOSYL-OLIGOSACCHARIDE GLYCOSIDASE; MOGS
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|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
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</div>
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<div>
|
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<div >
|
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
GLUCOSIDASE I; GCS1
|
|
</span>
|
|
</h4>
|
|
</div>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: MOGS</em></strong>
|
|
</span>
|
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</p>
|
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</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
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|
|
<strong>SNOMEDCT:</strong> 725028009;
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 2p13.1
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 2:74,461,057-74,465,382 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
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|
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<div>
|
|
<br />
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<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
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
2p13.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Congenital disorder of glycosylation, type IIb
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
606056
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
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|
|
</tbody>
|
|
</table>
|
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</div>
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|
</div>
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<div>
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<br />
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</div>
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<div>
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|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The processing of N-linked glycoproteins is initiated by the action of glucosidase I, which cleaves specifically the distal alpha-1,2-linked glucose residue in the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor after its en bloc transfer from dolichyl diphosphate to the nascent polypeptide chain (Kornfeld and Kornfeld, 1985). The resulting Glc(2)-Man(9)-GlcNAc(2) intermediate is then further modified by glucosidase II and several ER- and Golgi-resident mannosidases and glycosyltransferases, finally yielding a complex array of glycan structures. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Kalz-Fuller et al. (1995) used the amino acid sequence of tryptic peptides of the pig liver glucosidase I enzyme to synthesize degenerate oligonucleotides that were used to amplify a specific cDNA probe by PCR with porcine cDNA. Screening of a human hippocampus cDNA library with this probe resulted in the isolation of several glucosidase I-specific clones, allowing the reconstruction of a full-length human cDNA of 2,881 bp. The oligonucleotide sequence showed no homology to other processing enzymes cloned to that time. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By fluorescence in situ hybridization, Kalz-Fuller et al. (1996) mapped the GCS1 gene to chromosome 2p13-p12. They confirmed the localization with PCR-based analysis of somatic cell hybrids. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>De Praeter et al. (2000) identified a glucosidase I defect in a neonate with severe generalized hypotonia and dysmorphic features consistent with congenital disorder of glycosylation type IIb (CDG2B; 606056). Molecular studies showed that the patient was a compound heterozygote for 2 missense mutations in the GCS1 gene (601336.0001-601336.0002). </p><p>In 2 sibs with CDG2B, Sadat et al. (2014) identified compound heterozygous mutations in the MOGS gene (601336.0003 and 601336.0004). The mutations resulted in lack of detectable protein expression. Each unaffected parent was heterozygous for 1 of the mutant alleles. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human MOGS is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>4 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MOGS, ARG486THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909291,
|
|
|
|
|
|
gnomAD: rs121909291,
|
|
|
|
|
|
ClinVar: RCV000008676
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a neonate with congenital disorder of glycosylation type IIb (CDG2B; 606056), De Praeter et al. (2000) identified compound heterozygosity for 2 missense mutations in the GCS1 gene: a 1587G-C transition resulting in an arg486-to-thr (R486T) substitution, and a 2085T-C transition resulting in a phe652-to-leu (F652L; 601336.0002) substitution. The mother was heterozygous for the former mutation, whereas the father was heterozygous for the latter. The patient was the first child of second-cousin parents and presented with severe generalized hypotonia and dysmorphic features. </p>
|
|
</span>
|
|
</div>
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<h4>
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<span class="mim-font">
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<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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MOGS, PHE652LEU
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<br />
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SNP: rs121909292,
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ClinVar: RCV000008677
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</span>
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</div>
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<span class="mim-text-font">
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<p>For discussion of the phe652-to-leu (F652L) mutation found in compound heterozygous state in a patient with congenital disorder of glycosylation type IIb (CDG2B; 606056) by De Praeter et al. (2000), see 601336.0001. </p>
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</span>
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</div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MOGS, GLN124TER ({dbSNP rs587777323)}
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<br />
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SNP: rs587777323,
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gnomAD: rs587777323,
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ClinVar: RCV000114956, RCV001588924
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</div>
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<span class="mim-text-font">
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<p>In 2 sibs with congenital disorder of glycosylation type IIb (CDG2B; 606056), Sadat et al. (2014) identified compound heterozygous mutations in the MOGS gene. The maternal allele carried a c.370C-T transition, predicted to result in a gln124-to-ter (Q124X) substitution; the mutation resulted in nonsense-mediated mRNA decay. The paternal allele had 2 mutations: a c.65C-A transversion, predicted to result in an ala22-to-glu (A22E) substitution, and a c.329G-A transition, predicted to result in an arg110-to-his (R110H) substitution (601336.0004). The c.65C-A mutation affected splicing and resulted in nonsense-mediated mRNA decay, and the R110H mutant protein was rapidly degraded by the proteasome. Immunoblot analysis of patient cells showed lack of detectable MOGS protein, consistent with a loss of function. The patients had global developmental delay, hypotonia, seizures, dysmorphic features, and hypogammaglobulinemia. </p><p>Kane et al. (2016) found that fibroblasts and blood derived from the sibs reported by Sadat et al. (2014) had increased amounts of nonparental genotypes surrounding the inherited variants. Detailed analysis indicated that there were some somatic genotypes with the wildtype allele. These findings suggested that reciprocal mitotic recombination can generate wildtype alleles in somatic cells, which may contribute to the survival and the variable expressivity seen in individuals with compound heterozygous mutations. </p>
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</span>
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</div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MOGS, ALA22GLU ({dbSNP rs753961807}) AND ARG110HIS
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<br />
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SNP: rs753961807, rs863225089,
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gnomAD: rs753961807,
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ClinVar: RCV000114957, RCV000201602, RCV001857297
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the ala22-to-glu (A22E) and arg110-to-his (R110H) mutations found in cis on the paternal allele in compound heterozygous state in a patient with congenital disorder of glycosylation type IIb (CDG2B; 606056) by Sadat et al. (2014), see 601336.0003. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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De Praeter, C. M., Gerwig, G. J., Bause, E., Nuytinck, L. K., Vliegenthart, J. F. G., Breuer, W., Kamerling, J. P., Espeel, M. F., Martin, J.-J. R., De Paepe, A. M., Chan, N. W. C., Dacremont, G. A., Van Coster, R. N.
|
|
<strong>A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.</strong>
|
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Am. J. Hum. Genet. 66: 1744-1756, 2000.
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[PubMed: 10788335]
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[Full Text: https://doi.org/10.1086/302948]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
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Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: 27626380]
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[Full Text: https://doi.org/10.1038/nature19356]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kalz-Fuller, B., Bieberich, E., Bause, E.
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<strong>Cloning and expression of glucosidase I from human hippocampus.</strong>
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Europ. J. Biochem. 231: 344-351, 1995. Note: Erratum: Europ. J. Biochem. 249: 912 only, 1997.
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[PubMed: 7635146]
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[Full Text: https://doi.org/10.1111/j.1432-1033.1995.tb20706.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kalz-Fuller, B., Heidrich-Kaul, C., Nothen, M., Bause, E., Schwanitz, G.
|
|
<strong>Localization of the human glucosidase I gene to chromosome 2p12-p13 by fluorescence in situ hybridization and PCR analysis of somatic cell hybrids.</strong>
|
|
Genomics 34: 442-443, 1996.
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[PubMed: 8786151]
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[Full Text: https://doi.org/10.1006/geno.1996.0313]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kane, M. S., Davids, M., Adams, C., Wolfe, L. A., Cheung, H. W., Gropman, A., Huang, Y., NISC Comparative Sequencing Program, Ng, B. G., Freeze, H. H., Adams, D. R., Gahl, W. A., Boerkoel, C. F.
|
|
<strong>Mitotic intragenic recombination: a mechanism of survival for several congenital disorders of glycosylation.</strong>
|
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Am. J. Hum. Genet. 98: 339-346, 2016.
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[PubMed: 26805780]
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[Full Text: https://doi.org/10.1016/j.ajhg.2015.12.007]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kornfeld, R., Kornfeld, S.
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<strong>Assembly of asparagine-linked oligosaccharides.</strong>
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Annu. Rev. Biochem. 54: 631-664, 1985.
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[PubMed: 3896128]
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[Full Text: https://doi.org/10.1146/annurev.bi.54.070185.003215]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Sadat, M. A., Moir, S., Chun, T.-W., Lusso, P., Kaplan, G., Wolfe, L., Memoli, M. J., He, M., Vega, H., Kim, L. J. Y., Huang, Y., Hussein, N., and 28 others.
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<strong>Glycosylation, hypogammaglobulinemia, and resistance to viral infections.</strong>
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New. Eng. J. Med. 370: 1615-1625, 2014.
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[PubMed: 24716661]
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[Full Text: https://doi.org/10.1056/NEJMoa1302846]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/17/2017<br>Cassandra L. Kniffin - updated : 2/24/2016<br>Cassandra L. Kniffin - updated : 4/23/2014<br>Victor A. McKusick - updated : 7/25/2000
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<span class="mim-text-font">
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Victor A. McKusick : 7/5/1996
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carol : 01/31/2018<br>carol : 03/26/2017<br>alopez : 02/17/2017<br>alopez : 02/29/2016<br>ckniffin : 2/24/2016<br>carol : 4/9/2015<br>carol : 4/25/2014<br>mcolton : 4/24/2014<br>ckniffin : 4/23/2014<br>terry : 8/9/2012<br>carol : 6/27/2007<br>ckniffin : 6/22/2007<br>carol : 6/22/2001<br>carol : 6/22/2001<br>carol : 8/2/2000<br>terry : 7/25/2000<br>terry : 7/24/1996<br>mark : 7/5/1996<br>mark : 7/5/1996
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