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Entry
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- *603708 - MOLYBDENUM COFACTOR SYNTHESIS GENE 2; MOCS2
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603708</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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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603708">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000164172;t=ENST00000396954" 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=4338" 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=603708" 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 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=ENSG00000164172;t=ENST00000396954" 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_004531,NM_176806" 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_004531" 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=603708" 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=04750&isoform_id=04750_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/MOCS2" 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/4235630,4235631,4262372,4262373,4758732,7688675,20138899,20138900,28278189,28631173,48146461,119575269,119575270,119575271,119575272,189053580,259669317,300570859" 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/?query=O96007 OR O96033" 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=4338" 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=ENSG00000164172;t=ENST00000396954" 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=MOCS2" 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=MOCS2" 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+4338" 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/MOCS2" 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:4338" 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/4338" 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=chr5&hgg_gene=ENST00000450852.8&hgg_start=53095679&hgg_end=53109757&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7193" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:7193" 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://medlineplus.gov/genetics/gene/mocs2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603708[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=603708[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000164172" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=MOCS2" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=MOCS2" 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=MOCS2" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MOCS2&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/PA30903" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:7193" 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/FBgn0039280.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:1336894" 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/MOCS2#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:1336894" 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/4338/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=4338" 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=WBGene00020842;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-110411-53" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4338" 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=MOCS2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1003368009<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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603708
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MOLYBDENUM COFACTOR SYNTHESIS GENE 2; MOCS2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
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MOLYBDOPTERIN SYNTHASE; MPTS<br />
|
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MOCO1
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MOCS2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MOCS2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/5/157?start=-3&limit=10&highlight=157">5q11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:53095679-53109757&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'})">5:53,095,679-53,109,757</a> </span>
|
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</em>
|
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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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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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
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Phenotype
|
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
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|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/157?start=-3&limit=10&highlight=157">
|
|
5q11.2
|
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</a>
|
|
</span>
|
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</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Molybdenum cofactor deficiency B
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/252160"> 252160 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/603708" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/603708" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<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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</div>
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<p>The MOCS2 gene encodes a protein involved in the synthesis of molybdenum cofactor (MoCo). MoCo synthesis is an ancient, ubiquitous, and highly conserved pathway leading to biochemical activation of molybdenum. In humans, MoCo is essential for the activities of sulfite oxidase (SUOX; <a href="/entry/606887">606887</a>), xanthine dehydrogenase (XDH; <a href="/entry/607633">607633</a>), and aldehyde oxidase (AOX1; <a href="/entry/602841">602841</a>). MoCo biosynthesis involves formation of precursor Z by proteins encoded by MOCS1 (<a href="/entry/603707">603707</a>), the subsequent conversion of precursor Z to molybdopterin (MPT) by MPT synthase (MOCS2), and attachment of molybdenum to the dithiolene moiety of MPT by gephyrin (GPHN; <a href="/entry/603930">603930</a>). MOCS2 is bicistronic, with overlapping ORFs encoding MOCS2A and MOCS2B, the 2 subunits of MPT synthase (<a href="#6" class="mim-tip-reference" title="Leimkuhler, S., Freuer, A., Araujo, J. A. S., Rajagopalan, K. V., Mendel, R. R. <strong>Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.</strong> J. Biol. Chem. 278: 26127-26134, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12732628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12732628</a>] [<a href="https://doi.org/10.1074/jbc.M303092200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12732628">Leimkuhler et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12732628" 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 E. coli, MPT synthase consists of small and large subunits encoded by the MoaD and MoaE genes, respectively. By searching an EST database for sequences similar to MoaE, followed by screening an adult liver cDNA library, <a href="#10" class="mim-tip-reference" title="Stallmeyer, B., Drugeon, G., Reiss, J., Haenni, A. L., Mendel, R. R. <strong>Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames.</strong> Am. J. Hum. Genet. 64: 698-705, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10053003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10053003</a>] [<a href="https://doi.org/10.1086/302295" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10053003">Stallmeyer et al. (1999)</a> cloned human MOCS2. The MOCS2 transcript is bicistronic and encodes the small and large subunits of MPT synthase in 2 different ORFs. The more 5-prime ORF encodes the small subunit, MOCS2A, a deduced 88-amino acid protein with a calculated molecular mass of 9.8 kD. The ORF for the large subunit, MOCS2B, overlaps the ORF for MOCS2A by 77 bp and encodes a deduced 188-amino acid protein with a calculated molecular mass of 20.8 kD. MOCS2B and its mammalian homologs have an N-terminal extension of about 40 amino acids that is not found in eubacteria homologs, and this extension represents the region where the MOCS2A and MOCS2B ORFs overlap. Northern blot analysis detected variable expression of a 1.35-kb transcript in all tissues examined. In vitro translation resulted in MOCS2A and MOCS2B proteins with apparent molecular masses of 10 and 21 kD, respectively, by SDS-PAGE. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10053003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Sloan, J., Kinghorn, J. R., Unkles, S. E. <strong>The two subunits of human molybdopterin synthase: evidence for a bicistronic messenger RNA with overlapping reading frames.</strong> Nucleic Acids Res. 27: 854-858, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9889283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9889283</a>] [<a href="https://doi.org/10.1093/nar/27.3.854" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9889283">Sloan et al. (1999)</a> independently cloned MOCS2, which they called MOCO1. Northern blot analysis detected a 1.35-kb transcript in all tissues examined, with highest expression in heart and skeletal muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9889283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using RT-PCR, <a href="#2" class="mim-tip-reference" title="Hahnewald, R., Leimkuhler, S., Vilaseca, A., Acquaviva-Bourdain, C., Lenz, U., Reiss, J. <strong>A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.</strong> Molec. Genet. Metab. 89: 210-213, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16737835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16737835</a>] [<a href="https://doi.org/10.1016/j.ymgme.2006.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16737835">Hahnewald et al. (2006)</a> identified 2 MOCS2 splice variants containing alternative first exons that determined expression of MOCS2A or MOCS2B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16737835" 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="#7" class="mim-tip-reference" title="Reiss, J., Dorche, B., Stallmeyer, B., Mendel, R. R., Cohen, N., Zabot, M. T. <strong>Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.</strong> Am. J. Hum. Genet. 64: 706-711, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10053004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10053004</a>] [<a href="https://doi.org/10.1086/302296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10053004">Reiss et al. (1999)</a> determined that the MOCS2 gene contains 7 exons. Exons 1 to 3 encode MOCS2A, and exons 3 to 7 encode MOCS2B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10053004" 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="#2" class="mim-tip-reference" title="Hahnewald, R., Leimkuhler, S., Vilaseca, A., Acquaviva-Bourdain, C., Lenz, U., Reiss, J. <strong>A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.</strong> Molec. Genet. Metab. 89: 210-213, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16737835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16737835</a>] [<a href="https://doi.org/10.1016/j.ymgme.2006.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16737835">Hahnewald et al. (2006)</a> identified an alternative first exon, 1b, that is used exclusively by transcripts encoding MOCS2B. Exon 1a is used exclusively by transcripts encoding MOCS2A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16737835" 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 PCR screening of a radiation-induced cell-hybrid panel, <a href="#7" class="mim-tip-reference" title="Reiss, J., Dorche, B., Stallmeyer, B., Mendel, R. R., Cohen, N., Zabot, M. T. <strong>Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.</strong> Am. J. Hum. Genet. 64: 706-711, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10053004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10053004</a>] [<a href="https://doi.org/10.1086/302296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10053004">Reiss et al. (1999)</a> mapped the MOCS2 gene to chromosome 5p11-q11, and linkage to an EST marker to 2 polymorphic DNA markers established the location as 5q11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10053004" 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>Using size exclusion chromatography, <a href="#6" class="mim-tip-reference" title="Leimkuhler, S., Freuer, A., Araujo, J. A. S., Rajagopalan, K. V., Mendel, R. R. <strong>Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.</strong> J. Biol. Chem. 278: 26127-26134, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12732628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12732628</a>] [<a href="https://doi.org/10.1074/jbc.M303092200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12732628">Leimkuhler et al. (2003)</a> showed that separately purified MOCS2A and MOCS2B subunits formed dimers in solution. When mixed, they assembled into a tetrameric MPT synthase complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12732628" 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 thiocarboxylate group at the second glycine of the C-terminal gly-gly motif of the small subunit of E. coli MPT synthetase serves as the sulfur donor for the formation of the dithiolene group in MPT. Human MOCS2A has a C-terminal gly-gly motif, and <a href="#6" class="mim-tip-reference" title="Leimkuhler, S., Freuer, A., Araujo, J. A. S., Rajagopalan, K. V., Mendel, R. R. <strong>Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.</strong> J. Biol. Chem. 278: 26127-26134, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12732628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12732628</a>] [<a href="https://doi.org/10.1074/jbc.M303092200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12732628">Leimkuhler et al. (2003)</a> demonstrated that thiocarboxylated MOCS2A plus MOCS2B catalyzed conversion of MPT from precursor Z. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12732628" 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>Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood. The disorder results from decreased activity of sulfite oxidase (SUOX; <a href="/entry/606887">606887</a>) and xanthine dehydrogenase (XDH; <a href="/entry/607633">607633</a>), both of which are dependent on molybdenum cofactor for activity. In 7 of 8 patients with molybdenum cofactor deficiency type B (MOCODB; <a href="/entry/252160">252160</a>), <a href="#7" class="mim-tip-reference" title="Reiss, J., Dorche, B., Stallmeyer, B., Mendel, R. R., Cohen, N., Zabot, M. T. <strong>Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.</strong> Am. J. Hum. Genet. 64: 706-711, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10053004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10053004</a>] [<a href="https://doi.org/10.1086/302296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10053004">Reiss et al. (1999)</a> identified biallelic mutations in the MOCS2 gene (see, e.g., <a href="#0001">603708.0001</a>-<a href="#0005">603708.0005</a>). A 2-bp deletion (726del2; <a href="#0001">603708.0001</a>) accounted for 50% (7 of 14) of identified alleles. Furthermore, a start-codon mutation and a missense mutation of a highly conserved amino acid residue were found. The locations of the mutations confirmed the important functional role of both MOCS2 ORFs. One of the patients with identified MOCS2 mutations had been classified as type B in complementation studies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10053004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with molybdenum cofactor deficiency, <a href="#5" class="mim-tip-reference" title="Leimkuhler, S., Charcosset, M., Latour, P., Dorche, C., Kleppe, S., Scaglia, F., Szymczak, I., Schupp, P., Hahnewald, R., Reiss, J. <strong>Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.</strong> Hum. Genet. 117: 565-570, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16021469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16021469</a>] [<a href="https://doi.org/10.1007/s00439-005-1341-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16021469">Leimkuhler et al. (2005)</a> identified a mutation in the MOCS2 gene that altered the stop codon of the MOCS2B ORF (X189Y; <a href="#0008">603708.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16021469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with molybdenum cofactor deficiency, <a href="#2" class="mim-tip-reference" title="Hahnewald, R., Leimkuhler, S., Vilaseca, A., Acquaviva-Bourdain, C., Lenz, U., Reiss, J. <strong>A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.</strong> Molec. Genet. Metab. 89: 210-213, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16737835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16737835</a>] [<a href="https://doi.org/10.1016/j.ymgme.2006.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16737835">Hahnewald et al. (2006)</a> identified a 23-bp deletion in the MOCS2 gene (<a href="#0009">603708.0009</a>) that removed the translation initiation site for MOCS2A. RT-PCR analysis showed a truncated MOCS2A transcript and a MOCS2B transcript of normal length. However, Western blot analysis revealed no MOCS2A protein and very little MOCS2B, suggesting that MOCS2B is degraded in the absence of MOCS2A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16737835" 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="#1" 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://www.ncbi.nlm.nih.gov/pmc/?term=27626380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/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 MOCS2 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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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603708[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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<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> rs398122797 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122797;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/rs398122797?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=rs398122797" 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=rs398122797" 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=RCV000006482 OR RCV001377873 OR RCV001813958" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006482, RCV001377873, RCV001813958" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006482...</a>
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<p>In 4 patients with molybdenum cofactor deficiency type B (MOCODB; <a href="/entry/252160">252160</a>), <a href="#7" class="mim-tip-reference" title="Reiss, J., Dorche, B., Stallmeyer, B., Mendel, R. R., Cohen, N., Zabot, M. T. <strong>Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.</strong> Am. J. Hum. Genet. 64: 706-711, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10053004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10053004</a>] [<a href="https://doi.org/10.1086/302296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10053004">Reiss et al. (1999)</a> identified a 2-bp deletion, 726del2, in the MOCS2 gene, removing the last 9 amino acids of the gene product. The mutation was found in homozygous state in 3 patients (1 French, 1 Portuguese, and 1 English) and in compound heterozygous state in a German patient with an E168K missense mutation (<a href="#0002">603708.0002</a>). This deletion mutation accounted for 50% (7 of 14) of identified alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10053004" 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="#8" class="mim-tip-reference" title="Reiss, J., Johnson, J. L. <strong>Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.</strong> Hum. Mutat. 21: 569-576, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12754701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12754701</a>] [<a href="https://doi.org/10.1002/humu.10223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12754701">Reiss and Johnson (2003)</a> reported that the 726delAA frameshift deletion is the most common MOCS2B mutation, having been found on 11 of 28 alleles. They speculated that the prevalence of this mutation in port cities of Portugal, France, the Netherlands, and Germany raises the possibility of distribution by a merchant sailor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12754701" 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 MOLYBDENUM COFACTOR DEFICIENCY, TYPE B</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">rs121908605 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908605;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=rs121908605" 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=rs121908605" 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=RCV000006483" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006483" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006483</a>
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<p>In a German patient with molybdenum cofactor deficiency (MOCODB; <a href="/entry/252160">252160</a>), <a href="#7" class="mim-tip-reference" title="Reiss, J., Dorche, B., Stallmeyer, B., Mendel, R. R., Cohen, N., Zabot, M. T. <strong>Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.</strong> Am. J. Hum. Genet. 64: 706-711, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10053004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10053004</a>] [<a href="https://doi.org/10.1086/302296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10053004">Reiss et al. (1999)</a> identified compound heterozygous mutations in the MOCS2 gene: a 726del2 mutation (<a href="#0001">603708.0001</a>) on the paternal allele and a missense mutation, glu168 to lys (E168K), on the maternal allele. The E168K mutation affected the first nucleotide of exon 7 (GAA to AAA). E168 is one of the few extremely conserved residues in the large subunit of molybdopterin synthase and the amino acid substitution E168K was most likely sufficient for impairment of the protein's enzymatic activity. The substituted G, however, contributes to the consensus value of the splice site (<a href="#4" class="mim-tip-reference" title="Krawczak, M., Reiss, J., Cooper, D. N. <strong>The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.</strong> Hum. Genet. 90: 41-54, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1427786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1427786</a>] [<a href="https://doi.org/10.1007/BF00210743" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1427786">Krawczak et al., 1992</a>) and an additional effect on splicing efficiency is possible. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10053004+1427786" 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="#6" class="mim-tip-reference" title="Leimkuhler, S., Freuer, A., Araujo, J. A. S., Rajagopalan, K. V., Mendel, R. R. <strong>Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.</strong> J. Biol. Chem. 278: 26127-26134, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12732628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12732628</a>] [<a href="https://doi.org/10.1074/jbc.M303092200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12732628">Leimkuhler et al. (2003)</a> found that MOCS2B with the E168K mutation readily formed MPT synthase tetramers with MOCS2A. However, compared with the wildtype enzyme, only a small amount of precursor Z bound tetramers including MOCS2B-E168K, resulting in reduced MPT synthase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12732628" 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 MOLYBDENUM COFACTOR DEFICIENCY, TYPE B</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> rs398122798 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122798;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/rs398122798?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=rs398122798" 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=rs398122798" 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=RCV000006484 OR RCV000288995 OR RCV003546452" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006484, RCV000288995, RCV003546452" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006484...</a>
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<p>In an Italian patient with molybdenum cofactor deficiency (MOCODB; <a href="/entry/252160">252160</a>), <a href="#7" class="mim-tip-reference" title="Reiss, J., Dorche, B., Stallmeyer, B., Mendel, R. R., Cohen, N., Zabot, M. T. <strong>Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.</strong> Am. J. Hum. Genet. 64: 706-711, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10053004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10053004</a>] [<a href="https://doi.org/10.1086/302296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10053004">Reiss et al. (1999)</a> identified a homozygous 4-bp deletion, 533del4, in exon 5 of the MOCS2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10053004" 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 MOLYBDENUM COFACTOR DEFICIENCY, TYPE B</strong>
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MOCS2, 1-BP INS, 252C
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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> rs398122799 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122799;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/rs398122799?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=rs398122799" 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=rs398122799" 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=RCV000006485 OR RCV001388974" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006485, RCV001388974" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006485...</a>
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<p>In a Portuguese patient with molybdenum cofactor deficiency (MOCODB; <a href="/entry/252160">252160</a>), <a href="#7" class="mim-tip-reference" title="Reiss, J., Dorche, B., Stallmeyer, B., Mendel, R. R., Cohen, N., Zabot, M. T. <strong>Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.</strong> Am. J. Hum. Genet. 64: 706-711, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10053004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10053004</a>] [<a href="https://doi.org/10.1086/302296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10053004">Reiss et al. (1999)</a> identified homozygosity for insertion of a C after nucleotide 252 (252insC) in exon 3 of the MOCS2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10053004" 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>The 2 MOCS2 ORFs appear to be translated into 2 different proteins, MOCS2A and MOCS2B, from a single transcript with no alternative splicing involved (<a href="#10" class="mim-tip-reference" title="Stallmeyer, B., Drugeon, G., Reiss, J., Haenni, A. L., Mendel, R. R. <strong>Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames.</strong> Am. J. Hum. Genet. 64: 698-705, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10053003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10053003</a>] [<a href="https://doi.org/10.1086/302295" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10053003">Stallmeyer et al., 1999</a>). <a href="#8" class="mim-tip-reference" title="Reiss, J., Johnson, J. L. <strong>Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.</strong> Hum. Mutat. 21: 569-576, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12754701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12754701</a>] [<a href="https://doi.org/10.1002/humu.10223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12754701">Reiss and Johnson (2003)</a> stated that, consequently, the 252insC mutation, which falls in the overlap region of MOCS2A and MOCS2B and was identified in a single patient, is the only mutation that affects both MOCS2 ORFs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12754701+10053003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908606 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908606;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/rs121908606?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=rs121908606" 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=rs121908606" 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 Coptic Egyptian patient with molybdenum cofactor deficiency (MOCODB; <a href="/entry/252160">252160</a>), <a href="#7" class="mim-tip-reference" title="Reiss, J., Dorche, B., Stallmeyer, B., Mendel, R. R., Cohen, N., Zabot, M. T. <strong>Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.</strong> Am. J. Hum. Genet. 64: 706-711, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10053004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10053004</a>] [<a href="https://doi.org/10.1086/302296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10053004">Reiss et al. (1999)</a> identified homozygosity for a start codon mutation, met1 to ile, in the MOCS2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10053004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 MOLYBDENUM COFACTOR DEFICIENCY, TYPE B</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> rs121908607 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908607;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/rs121908607?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=rs121908607" 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=rs121908607" 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=RCV000006487 OR RCV000721967 OR RCV001851698" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006487, RCV000721967, RCV001851698" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006487...</a>
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<p><a href="#3" class="mim-tip-reference" title="Johnson, J. L., Coyne, K. E., Rajagopalan, K. V., Van Hove, J. L. K., Mackay, M., Pitt, J., Boneh, A. <strong>Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.</strong> Am. J. Med. Genet. 104: 169-173, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11746050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11746050</a>] [<a href="https://doi.org/10.1002/1096-8628(20011122)104:2<169::aid-ajmg1603>3.0.co;2-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11746050">Johnson et al. (2001)</a> reported a 4-year-old patient with mild features of molybdenum cofactor deficiency (MOCODB; <a href="/entry/252160">252160</a>), including mild developmental delay, but no seizures or lens dislocation. The patient was compound heterozygous for 2 single-base substitutions in the MOCS2 gene: a C-to-T transition at nucleotide 16 in exon 1, resulting in a gln6-to-ter (Q6X) mutation on one allele, and a G-to-T transversion at nucleotide 19 in exon 2, resulting in a val7-to-phe (V7F) mutation (<a href="#0007">603708.0007</a>) on the other. The authors postulated that a low level of residual molybdopterin synthase activity derived from the V7F allele may have been responsible for the milder clinical symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11746050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 MOLYBDENUM COFACTOR DEFICIENCY, TYPE B</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> rs121908608 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908608;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/rs121908608?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=rs121908608" 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=rs121908608" 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 val7-to-phe (V7F) mutation in the MCOS2 gene that was found in compound heterozygous state in a patient with mild features of molybdenum cofactor deficiency (MOCODB; <a href="/entry/252160">252160</a>) by <a href="#3" class="mim-tip-reference" title="Johnson, J. L., Coyne, K. E., Rajagopalan, K. V., Van Hove, J. L. K., Mackay, M., Pitt, J., Boneh, A. <strong>Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.</strong> Am. J. Med. Genet. 104: 169-173, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11746050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11746050</a>] [<a href="https://doi.org/10.1002/1096-8628(20011122)104:2<169::aid-ajmg1603>3.0.co;2-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11746050">Johnson et al. (2001)</a>, see <a href="/entry/603078#0006">603078.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11746050" 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="#6" class="mim-tip-reference" title="Leimkuhler, S., Freuer, A., Araujo, J. A. S., Rajagopalan, K. V., Mendel, R. R. <strong>Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.</strong> J. Biol. Chem. 278: 26127-26134, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12732628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12732628</a>] [<a href="https://doi.org/10.1074/jbc.M303092200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12732628">Leimkuhler et al. (2003)</a> showed that neither the carboxylated nor the thiocarboxylated form of MOCS2A with the V7F mutation formed a complex with MOCS2B. A mixture of MOCS2A-V7F and MOCS2B showed very low MPT synthase activity compared with wildtype MPT synthase, although a hemisulfurated MPT intermediate was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12732628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908609 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908609;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/rs121908609?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=rs121908609" 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=rs121908609" 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=RCV000006489 OR RCV001323986" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006489, RCV001323986" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006489...</a>
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<p>In a 9-month-old Mexican infant with molybdenum cofactor deficiency (MOCODB; <a href="/entry/252160">252160</a>), <a href="#5" class="mim-tip-reference" title="Leimkuhler, S., Charcosset, M., Latour, P., Dorche, C., Kleppe, S., Scaglia, F., Szymczak, I., Schupp, P., Hahnewald, R., Reiss, J. <strong>Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.</strong> Hum. Genet. 117: 565-570, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16021469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16021469</a>] [<a href="https://doi.org/10.1007/s00439-005-1341-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16021469">Leimkuhler et al. (2005)</a> identified an A-to-C transversion in exon 7 of the MOCS2 gene, resulting in a ter189-to-tyr (X189Y) substitution, predicted to add 18 amino acids to the C terminus of the MOCS2B protein. In vitro functional studies revealed that the elongated mutant did not form a complex with carboxylated MOCS2A and did not bind to precursor Z. The patient had an unusual phenotype with no evidence of seizure disorder, lens dislocation, or progressive psychomotor retardation. However, he had static encephalopathy, microcephaly, dysmorphic features, spastic quadriparesis, nystagmus, irritability, and diffuse cerebral atrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16021469" 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>.0009 MOLYBDENUM COFACTOR DEFICIENCY, TYPE B</strong>
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MCOS2, 23-BP DEL, NT148
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397518417 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397518417;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=rs397518417" 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=rs397518417" 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=RCV000006490" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006490" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006490</a>
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<p>In a Senegalese boy with molybdenum cofactor deficiency (MOCODB; <a href="/entry/252160">252160</a>), <a href="#2" class="mim-tip-reference" title="Hahnewald, R., Leimkuhler, S., Vilaseca, A., Acquaviva-Bourdain, C., Lenz, U., Reiss, J. <strong>A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.</strong> Molec. Genet. Metab. 89: 210-213, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16737835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16737835</a>] [<a href="https://doi.org/10.1016/j.ymgme.2006.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16737835">Hahnewald et al. (2006)</a> identified a 23-bp deletion at nucleotide 148 (148del23) in exon 1a of the MOCS2 gene. The deletion included the translation initiation site for MOCS2A. RT-PCR revealed an abnormal MOCS2A transcript and normal MOCS2B transcript in cultured skin fibroblasts, but Western blot analysis of liver showed no MOCS2A protein and low amounts of MOCS2B. The child was born to a nonconsanguineous couple and appeared healthy at birth. From the third day of life, he developed feeding difficulties, hypotonia, and drug-resistant tonic and clonic seizures, and he had elevated sulfite and diminished uric acid in urine. He died 21 days after birth from cardiorespiratory arrest. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16737835" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Dickinson2016" class="mim-anchor"></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://www.ncbi.nlm.nih.gov/pmc/?term=27626380[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=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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<a id="Hahnewald2006" class="mim-anchor"></a>
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Hahnewald, R., Leimkuhler, S., Vilaseca, A., Acquaviva-Bourdain, C., Lenz, U., Reiss, J.
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<strong>A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.</strong>
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Molec. Genet. Metab. 89: 210-213, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16737835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16737835</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16737835" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2006.04.008" target="_blank">Full Text</a>]
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<a id="Johnson2001" class="mim-anchor"></a>
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Johnson, J. L., Coyne, K. E., Rajagopalan, K. V., Van Hove, J. L. K., Mackay, M., Pitt, J., Boneh, A.
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<strong>Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.</strong>
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Am. J. Med. Genet. 104: 169-173, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11746050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11746050</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11746050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1096-8628(20011122)104:2<169::aid-ajmg1603>3.0.co;2-8" target="_blank">Full Text</a>]
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<a id="Krawczak1992" class="mim-anchor"></a>
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Krawczak, M., Reiss, J., Cooper, D. N.
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<strong>The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.</strong>
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Hum. Genet. 90: 41-54, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1427786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1427786</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1427786" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00210743" target="_blank">Full Text</a>]
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Leimkuhler, S., Charcosset, M., Latour, P., Dorche, C., Kleppe, S., Scaglia, F., Szymczak, I., Schupp, P., Hahnewald, R., Reiss, J.
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<strong>Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.</strong>
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Hum. Genet. 117: 565-570, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16021469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16021469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16021469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-005-1341-9" target="_blank">Full Text</a>]
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Leimkuhler, S., Freuer, A., Araujo, J. A. S., Rajagopalan, K. V., Mendel, R. R.
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<strong>Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.</strong>
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J. Biol. Chem. 278: 26127-26134, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12732628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12732628</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12732628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M303092200" target="_blank">Full Text</a>]
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Reiss, J., Dorche, B., Stallmeyer, B., Mendel, R. R., Cohen, N., Zabot, M. T.
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<strong>Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.</strong>
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Am. J. Hum. Genet. 64: 706-711, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10053004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10053004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10053004" 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/10.1086/302296" target="_blank">Full Text</a>]
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Reiss, J., Johnson, J. L.
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<strong>Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.</strong>
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Hum. Mutat. 21: 569-576, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12754701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12754701</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12754701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.10223" target="_blank">Full Text</a>]
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Sloan, J., Kinghorn, J. R., Unkles, S. E.
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<strong>The two subunits of human molybdopterin synthase: evidence for a bicistronic messenger RNA with overlapping reading frames.</strong>
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Nucleic Acids Res. 27: 854-858, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9889283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9889283</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9889283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/27.3.854" target="_blank">Full Text</a>]
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Stallmeyer, B., Drugeon, G., Reiss, J., Haenni, A. L., Mendel, R. R.
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<strong>Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames.</strong>
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Am. J. Hum. Genet. 64: 698-705, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10053003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10053003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10053003" 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/10.1086/302295" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 02/17/2017
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Matthew B. Gross - updated : 2/3/2009<br>Patricia A. Hartz - updated : 2/2/2009<br>Marla J. F. O'Neill - updated : 11/16/2005<br>Victor A. McKusick - updated : 7/11/2003<br>Sonja A. Rasmussen - updated : 12/13/2001
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Victor A. McKusick : 4/8/1999
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carol : 07/10/2024
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carol : 05/06/2024<br>carol : 02/01/2018<br>alopez : 02/17/2017<br>alopez : 08/11/2015<br>mcolton : 7/31/2015<br>carol : 11/5/2013<br>carol : 11/4/2013<br>carol : 11/4/2013<br>ckniffin : 10/30/2013<br>mgross : 2/3/2009<br>terry : 2/2/2009<br>wwang : 11/18/2005<br>terry : 11/16/2005<br>cwells : 11/18/2003<br>terry : 7/11/2003<br>carol : 12/13/2001<br>carol : 12/13/2001<br>carol : 4/8/1999
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603708
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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MOLYBDENUM COFACTOR SYNTHESIS GENE 2; MOCS2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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MOLYBDOPTERIN SYNTHASE; MPTS<br />
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MOCO1
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MOCS2</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1003368009;
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</span>
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</p>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 5q11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:53,095,679-53,109,757 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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5q11.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Molybdenum cofactor deficiency B
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</span>
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</td>
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<td>
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<span class="mim-font">
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252160
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The MOCS2 gene encodes a protein involved in the synthesis of molybdenum cofactor (MoCo). MoCo synthesis is an ancient, ubiquitous, and highly conserved pathway leading to biochemical activation of molybdenum. In humans, MoCo is essential for the activities of sulfite oxidase (SUOX; 606887), xanthine dehydrogenase (XDH; 607633), and aldehyde oxidase (AOX1; 602841). MoCo biosynthesis involves formation of precursor Z by proteins encoded by MOCS1 (603707), the subsequent conversion of precursor Z to molybdopterin (MPT) by MPT synthase (MOCS2), and attachment of molybdenum to the dithiolene moiety of MPT by gephyrin (GPHN; 603930). MOCS2 is bicistronic, with overlapping ORFs encoding MOCS2A and MOCS2B, the 2 subunits of MPT synthase (Leimkuhler et al., 2003). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In E. coli, MPT synthase consists of small and large subunits encoded by the MoaD and MoaE genes, respectively. By searching an EST database for sequences similar to MoaE, followed by screening an adult liver cDNA library, Stallmeyer et al. (1999) cloned human MOCS2. The MOCS2 transcript is bicistronic and encodes the small and large subunits of MPT synthase in 2 different ORFs. The more 5-prime ORF encodes the small subunit, MOCS2A, a deduced 88-amino acid protein with a calculated molecular mass of 9.8 kD. The ORF for the large subunit, MOCS2B, overlaps the ORF for MOCS2A by 77 bp and encodes a deduced 188-amino acid protein with a calculated molecular mass of 20.8 kD. MOCS2B and its mammalian homologs have an N-terminal extension of about 40 amino acids that is not found in eubacteria homologs, and this extension represents the region where the MOCS2A and MOCS2B ORFs overlap. Northern blot analysis detected variable expression of a 1.35-kb transcript in all tissues examined. In vitro translation resulted in MOCS2A and MOCS2B proteins with apparent molecular masses of 10 and 21 kD, respectively, by SDS-PAGE. </p><p>Sloan et al. (1999) independently cloned MOCS2, which they called MOCO1. Northern blot analysis detected a 1.35-kb transcript in all tissues examined, with highest expression in heart and skeletal muscle. </p><p>Using RT-PCR, Hahnewald et al. (2006) identified 2 MOCS2 splice variants containing alternative first exons that determined expression of MOCS2A or MOCS2B. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Reiss et al. (1999) determined that the MOCS2 gene contains 7 exons. Exons 1 to 3 encode MOCS2A, and exons 3 to 7 encode MOCS2B. </p><p>Hahnewald et al. (2006) identified an alternative first exon, 1b, that is used exclusively by transcripts encoding MOCS2B. Exon 1a is used exclusively by transcripts encoding MOCS2A. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By PCR screening of a radiation-induced cell-hybrid panel, Reiss et al. (1999) mapped the MOCS2 gene to chromosome 5p11-q11, and linkage to an EST marker to 2 polymorphic DNA markers established the location as 5q11. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Using size exclusion chromatography, Leimkuhler et al. (2003) showed that separately purified MOCS2A and MOCS2B subunits formed dimers in solution. When mixed, they assembled into a tetrameric MPT synthase complex. </p><p>A thiocarboxylate group at the second glycine of the C-terminal gly-gly motif of the small subunit of E. coli MPT synthetase serves as the sulfur donor for the formation of the dithiolene group in MPT. Human MOCS2A has a C-terminal gly-gly motif, and Leimkuhler et al. (2003) demonstrated that thiocarboxylated MOCS2A plus MOCS2B catalyzed conversion of MPT from precursor Z. </p>
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|
</span>
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<div>
|
|
<br />
|
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</div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<span class="mim-text-font">
|
|
<p>Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood. The disorder results from decreased activity of sulfite oxidase (SUOX; 606887) and xanthine dehydrogenase (XDH; 607633), both of which are dependent on molybdenum cofactor for activity. In 7 of 8 patients with molybdenum cofactor deficiency type B (MOCODB; 252160), Reiss et al. (1999) identified biallelic mutations in the MOCS2 gene (see, e.g., 603708.0001-603708.0005). A 2-bp deletion (726del2; 603708.0001) accounted for 50% (7 of 14) of identified alleles. Furthermore, a start-codon mutation and a missense mutation of a highly conserved amino acid residue were found. The locations of the mutations confirmed the important functional role of both MOCS2 ORFs. One of the patients with identified MOCS2 mutations had been classified as type B in complementation studies. </p><p>In a patient with molybdenum cofactor deficiency, Leimkuhler et al. (2005) identified a mutation in the MOCS2 gene that altered the stop codon of the MOCS2B ORF (X189Y; 603708.0008). </p><p>In a patient with molybdenum cofactor deficiency, Hahnewald et al. (2006) identified a 23-bp deletion in the MOCS2 gene (603708.0009) that removed the translation initiation site for MOCS2A. RT-PCR analysis showed a truncated MOCS2A transcript and a MOCS2B transcript of normal length. However, Western blot analysis revealed no MOCS2A protein and very little MOCS2B, suggesting that MOCS2B is degraded in the absence of MOCS2A. </p>
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</span>
|
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<div>
|
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<br />
|
|
</div>
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|
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
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|
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|
|
<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 MOCS2 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). </p>
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</span>
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>9 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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|
<div>
|
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|
<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 MOLYBDENUM COFACTOR DEFICIENCY, TYPE B</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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|
|
MOCS2, 2-BP DEL, NT726
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|
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<br />
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|
|
SNP: rs398122797,
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|
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gnomAD: rs398122797,
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|
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ClinVar: RCV000006482, RCV001377873, RCV001813958
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 4 patients with molybdenum cofactor deficiency type B (MOCODB; 252160), Reiss et al. (1999) identified a 2-bp deletion, 726del2, in the MOCS2 gene, removing the last 9 amino acids of the gene product. The mutation was found in homozygous state in 3 patients (1 French, 1 Portuguese, and 1 English) and in compound heterozygous state in a German patient with an E168K missense mutation (603708.0002). This deletion mutation accounted for 50% (7 of 14) of identified alleles. </p><p>Reiss and Johnson (2003) reported that the 726delAA frameshift deletion is the most common MOCS2B mutation, having been found on 11 of 28 alleles. They speculated that the prevalence of this mutation in port cities of Portugal, France, the Netherlands, and Germany raises the possibility of distribution by a merchant sailor. </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>
|
|
<span class="mim-font">
|
|
<strong>.0002 MOLYBDENUM COFACTOR DEFICIENCY, TYPE B</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MOCS2, GLU168LYS
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<br />
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SNP: rs121908605,
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ClinVar: RCV000006483
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a German patient with molybdenum cofactor deficiency (MOCODB; 252160), Reiss et al. (1999) identified compound heterozygous mutations in the MOCS2 gene: a 726del2 mutation (603708.0001) on the paternal allele and a missense mutation, glu168 to lys (E168K), on the maternal allele. The E168K mutation affected the first nucleotide of exon 7 (GAA to AAA). E168 is one of the few extremely conserved residues in the large subunit of molybdopterin synthase and the amino acid substitution E168K was most likely sufficient for impairment of the protein's enzymatic activity. The substituted G, however, contributes to the consensus value of the splice site (Krawczak et al., 1992) and an additional effect on splicing efficiency is possible. </p><p>Leimkuhler et al. (2003) found that MOCS2B with the E168K mutation readily formed MPT synthase tetramers with MOCS2A. However, compared with the wildtype enzyme, only a small amount of precursor Z bound tetramers including MOCS2B-E168K, resulting in reduced MPT synthase activity. </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>
|
|
<span class="mim-font">
|
|
<strong>.0003 MOLYBDENUM COFACTOR DEFICIENCY, TYPE B</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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MOCS2, 4-BP DEL, NT533
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<br />
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|
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SNP: rs398122798,
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gnomAD: rs398122798,
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ClinVar: RCV000006484, RCV000288995, RCV003546452
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</span>
|
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</div>
|
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<div>
|
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<span class="mim-text-font">
|
|
<p>In an Italian patient with molybdenum cofactor deficiency (MOCODB; 252160), Reiss et al. (1999) identified a homozygous 4-bp deletion, 533del4, in exon 5 of the MOCS2 gene. </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>
|
|
<span class="mim-font">
|
|
<strong>.0004 MOLYBDENUM COFACTOR DEFICIENCY, TYPE B</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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MOCS2, 1-BP INS, 252C
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<br />
|
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|
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SNP: rs398122799,
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gnomAD: rs398122799,
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ClinVar: RCV000006485, RCV001388974
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Portuguese patient with molybdenum cofactor deficiency (MOCODB; 252160), Reiss et al. (1999) identified homozygosity for insertion of a C after nucleotide 252 (252insC) in exon 3 of the MOCS2 gene. </p><p>The 2 MOCS2 ORFs appear to be translated into 2 different proteins, MOCS2A and MOCS2B, from a single transcript with no alternative splicing involved (Stallmeyer et al., 1999). Reiss and Johnson (2003) stated that, consequently, the 252insC mutation, which falls in the overlap region of MOCS2A and MOCS2B and was identified in a single patient, is the only mutation that affects both MOCS2 ORFs. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 MOLYBDENUM COFACTOR DEFICIENCY, TYPE B</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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MOCS2, MET1ILE
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<br />
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SNP: rs121908606,
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gnomAD: rs121908606,
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ClinVar: RCV000006486
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Coptic Egyptian patient with molybdenum cofactor deficiency (MOCODB; 252160), Reiss et al. (1999) identified homozygosity for a start codon mutation, met1 to ile, in the MOCS2 gene. </p>
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</span>
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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>.0006 MOLYBDENUM COFACTOR DEFICIENCY, TYPE B</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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MOCS2, GLN6TER
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<br />
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SNP: rs121908607,
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gnomAD: rs121908607,
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ClinVar: RCV000006487, RCV000721967, RCV001851698
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</span>
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</div>
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<span class="mim-text-font">
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<p>Johnson et al. (2001) reported a 4-year-old patient with mild features of molybdenum cofactor deficiency (MOCODB; 252160), including mild developmental delay, but no seizures or lens dislocation. The patient was compound heterozygous for 2 single-base substitutions in the MOCS2 gene: a C-to-T transition at nucleotide 16 in exon 1, resulting in a gln6-to-ter (Q6X) mutation on one allele, and a G-to-T transversion at nucleotide 19 in exon 2, resulting in a val7-to-phe (V7F) mutation (603708.0007) on the other. The authors postulated that a low level of residual molybdopterin synthase activity derived from the V7F allele may have been responsible for the milder clinical symptoms. </p>
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</span>
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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>.0007 MOLYBDENUM COFACTOR DEFICIENCY, TYPE B</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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MCOS2, VAL7PHE
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<br />
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SNP: rs121908608,
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gnomAD: rs121908608,
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ClinVar: RCV000006488
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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 val7-to-phe (V7F) mutation in the MCOS2 gene that was found in compound heterozygous state in a patient with mild features of molybdenum cofactor deficiency (MOCODB; 252160) by Johnson et al. (2001), see 603078.0006. </p><p>Leimkuhler et al. (2003) showed that neither the carboxylated nor the thiocarboxylated form of MOCS2A with the V7F mutation formed a complex with MOCS2B. A mixture of MOCS2A-V7F and MOCS2B showed very low MPT synthase activity compared with wildtype MPT synthase, although a hemisulfurated MPT intermediate was observed. </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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<h4>
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<span class="mim-font">
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<strong>.0008 MOLYBDENUM COFACTOR DEFICIENCY, TYPE B</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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MCOS2, TER189TYR
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<br />
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SNP: rs121908609,
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gnomAD: rs121908609,
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ClinVar: RCV000006489, RCV001323986
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 9-month-old Mexican infant with molybdenum cofactor deficiency (MOCODB; 252160), Leimkuhler et al. (2005) identified an A-to-C transversion in exon 7 of the MOCS2 gene, resulting in a ter189-to-tyr (X189Y) substitution, predicted to add 18 amino acids to the C terminus of the MOCS2B protein. In vitro functional studies revealed that the elongated mutant did not form a complex with carboxylated MOCS2A and did not bind to precursor Z. The patient had an unusual phenotype with no evidence of seizure disorder, lens dislocation, or progressive psychomotor retardation. However, he had static encephalopathy, microcephaly, dysmorphic features, spastic quadriparesis, nystagmus, irritability, and diffuse cerebral atrophy. </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>.0009 MOLYBDENUM COFACTOR DEFICIENCY, TYPE B</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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MCOS2, 23-BP DEL, NT148
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<br />
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SNP: rs397518417,
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ClinVar: RCV000006490
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Senegalese boy with molybdenum cofactor deficiency (MOCODB; 252160), Hahnewald et al. (2006) identified a 23-bp deletion at nucleotide 148 (148del23) in exon 1a of the MOCS2 gene. The deletion included the translation initiation site for MOCS2A. RT-PCR revealed an abnormal MOCS2A transcript and normal MOCS2B transcript in cultured skin fibroblasts, but Western blot analysis of liver showed no MOCS2A protein and low amounts of MOCS2B. The child was born to a nonconsanguineous couple and appeared healthy at birth. From the third day of life, he developed feeding difficulties, hypotonia, and drug-resistant tonic and clonic seizures, and he had elevated sulfite and diminished uric acid in urine. He died 21 days after birth from cardiorespiratory arrest. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>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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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>
|
|
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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Hahnewald, R., Leimkuhler, S., Vilaseca, A., Acquaviva-Bourdain, C., Lenz, U., Reiss, J.
|
|
<strong>A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.</strong>
|
|
Molec. Genet. Metab. 89: 210-213, 2006.
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[PubMed: 16737835]
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[Full Text: https://doi.org/10.1016/j.ymgme.2006.04.008]
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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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Johnson, J. L., Coyne, K. E., Rajagopalan, K. V., Van Hove, J. L. K., Mackay, M., Pitt, J., Boneh, A.
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|
<strong>Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.</strong>
|
|
Am. J. Med. Genet. 104: 169-173, 2001.
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[PubMed: 11746050]
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[Full Text: https://doi.org/10.1002/1096-8628(20011122)104:2<169::aid-ajmg1603>3.0.co;2-8]
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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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Krawczak, M., Reiss, J., Cooper, D. N.
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<strong>The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.</strong>
|
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Hum. Genet. 90: 41-54, 1992.
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[PubMed: 1427786]
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[Full Text: https://doi.org/10.1007/BF00210743]
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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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Leimkuhler, S., Charcosset, M., Latour, P., Dorche, C., Kleppe, S., Scaglia, F., Szymczak, I., Schupp, P., Hahnewald, R., Reiss, J.
|
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<strong>Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.</strong>
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Hum. Genet. 117: 565-570, 2005.
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[PubMed: 16021469]
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[Full Text: https://doi.org/10.1007/s00439-005-1341-9]
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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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Leimkuhler, S., Freuer, A., Araujo, J. A. S., Rajagopalan, K. V., Mendel, R. R.
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<strong>Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.</strong>
|
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J. Biol. Chem. 278: 26127-26134, 2003.
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[PubMed: 12732628]
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[Full Text: https://doi.org/10.1074/jbc.M303092200]
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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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Reiss, J., Dorche, B., Stallmeyer, B., Mendel, R. R., Cohen, N., Zabot, M. T.
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<strong>Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.</strong>
|
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Am. J. Hum. Genet. 64: 706-711, 1999.
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[PubMed: 10053004]
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[Full Text: https://doi.org/10.1086/302296]
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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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Reiss, J., Johnson, J. L.
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<strong>Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.</strong>
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Hum. Mutat. 21: 569-576, 2003.
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[PubMed: 12754701]
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[Full Text: https://doi.org/10.1002/humu.10223]
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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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Sloan, J., Kinghorn, J. R., Unkles, S. E.
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<strong>The two subunits of human molybdopterin synthase: evidence for a bicistronic messenger RNA with overlapping reading frames.</strong>
|
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Nucleic Acids Res. 27: 854-858, 1999.
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[PubMed: 9889283]
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[Full Text: https://doi.org/10.1093/nar/27.3.854]
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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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Stallmeyer, B., Drugeon, G., Reiss, J., Haenni, A. L., Mendel, R. R.
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<strong>Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames.</strong>
|
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Am. J. Hum. Genet. 64: 698-705, 1999.
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[PubMed: 10053003]
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[Full Text: https://doi.org/10.1086/302295]
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</p>
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</li>
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</ol>
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</div>
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Contributors:
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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<br>Matthew B. Gross - updated : 2/3/2009<br>Patricia A. Hartz - updated : 2/2/2009<br>Marla J. F. O'Neill - updated : 11/16/2005<br>Victor A. McKusick - updated : 7/11/2003<br>Sonja A. Rasmussen - updated : 12/13/2001
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</span>
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<span class="mim-text-font">
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Victor A. McKusick : 4/8/1999
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</span>
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carol : 07/10/2024<br>carol : 05/06/2024<br>carol : 02/01/2018<br>alopez : 02/17/2017<br>alopez : 08/11/2015<br>mcolton : 7/31/2015<br>carol : 11/5/2013<br>carol : 11/4/2013<br>carol : 11/4/2013<br>ckniffin : 10/30/2013<br>mgross : 2/3/2009<br>terry : 2/2/2009<br>wwang : 11/18/2005<br>terry : 11/16/2005<br>cwells : 11/18/2003<br>terry : 7/11/2003<br>carol : 12/13/2001<br>carol : 12/13/2001<br>carol : 4/8/1999
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