2693 lines
172 KiB
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2693 lines
172 KiB
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Entry
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- *608419 - METHYLMALONYL-CoA EPIMERASE; MCEE
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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">*608419</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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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/608419">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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<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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<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 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 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=ENSG00000124370;t=ENST00000244217" 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=84693" 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=608419" 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 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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<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=ENSG00000124370;t=ENST00000244217" 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_032601,XM_005264613,XM_047446039" 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_032601" 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=608419" 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=12229&isoform_id=12229_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/MCEE" 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/14010614,18089166,50401130,62088518,62822200,119620184,188035928,530368214,2217331523,2462577814,2462577816" 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/Q96PE7" 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 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=84693" 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=ENSG00000124370;t=ENST00000244217" 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=MCEE" 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=MCEE" 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+84693" 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/MCEE" 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:84693" 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/84693" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr2&hgg_gene=ENST00000244217.6&hgg_start=71109687&hgg_end=71130229&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 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:16732" 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:16732" 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/mcee" 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=608419[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=608419[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/ENSG00000124370" 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=MCEE" 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=MCEE" 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=MCEE" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://databases.lovd.nl/genomed/home.php?select_db=MCEE" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MCEE&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/PA30683" 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:16732" 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://www.mousephenotype.org/data/genes/MGI:1920974" 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/MCEE#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:1920974" 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/84693/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=84693" 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=WBGene00008415;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-050522-368" 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:84693" 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=MCEE&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> 1293018007<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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608419
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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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METHYLMALONYL-CoA EPIMERASE; MCEE
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
METHYLMALONYL-CoA RACEMASE
|
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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=MCEE" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MCEE</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>
|
|
Cytogenetic location: <a href="/geneMap/2/347?start=-3&limit=10&highlight=347">2p13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:71109687-71130229&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">2:71,109,687-71,130,229</a> </span>
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</em>
|
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</strong>
|
|
<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>
|
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<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>
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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">
|
|
<a href="/geneMap/2/347?start=-3&limit=10&highlight=347">
|
|
2p13.3
|
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</a>
|
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</span>
|
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</td>
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|
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<td>
|
|
<span class="mim-font">
|
|
Methylmalonyl-CoA epimerase deficiency
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/251120"> 251120 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
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|
<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">
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</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>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/608419" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/608419" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</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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<div>
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<br />
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
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<p>By searching for sequences similar to prokaryotic lactoylglutathione lyases, followed by PCR of a liver cDNA library, <a href="#2" class="mim-tip-reference" title="Bobik, T. A., Rasche, M. E. <strong>Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements: implications for decoding the human genome.</strong> J. Biol. Chem. 276: 37194-37198, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11481338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11481338</a>] [<a href="https://doi.org/10.1074/jbc.M107232200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11481338">Bobik and Rasche (2001)</a> cloned MCEE. The deduced 176-amino acid protein contains an N-terminal mitochondrial targeting sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11481338" 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="#2" class="mim-tip-reference" title="Bobik, T. A., Rasche, M. E. <strong>Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements: implications for decoding the human genome.</strong> J. Biol. Chem. 276: 37194-37198, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11481338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11481338</a>] [<a href="https://doi.org/10.1074/jbc.M107232200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11481338">Bobik and Rasche (2001)</a> demonstrated that MCEE has DL-methylmalonyl-CoA racemase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11481338" 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="#2" class="mim-tip-reference" title="Bobik, T. A., Rasche, M. E. <strong>Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements: implications for decoding the human genome.</strong> J. Biol. Chem. 276: 37194-37198, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11481338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11481338</a>] [<a href="https://doi.org/10.1074/jbc.M107232200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11481338">Bobik and Rasche (2001)</a> determined that the MCEE gene contains 3 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11481338" 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 genomic sequence analysis, <a href="#2" class="mim-tip-reference" title="Bobik, T. A., Rasche, M. E. <strong>Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements: implications for decoding the human genome.</strong> J. Biol. Chem. 276: 37194-37198, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11481338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11481338</a>] [<a href="https://doi.org/10.1074/jbc.M107232200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11481338">Bobik and Rasche (2001)</a> mapped the MCEE gene to chromosome 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11481338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Bikker, H., Bakker, H. D., Abeling, N. G. G. M., Poll-The, B. T., Kleijer, W. J., Rosenblatt, D. S., Waterham, H. R., Wanders, R. J. A., Duran, M. <strong>A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.</strong> Hum. Mutat. 27: 640-643, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752391</a>] [<a href="https://doi.org/10.1002/humu.20373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752391">Bikker et al. (2006)</a> reported a 16-year-old female patient with persistent moderate methylmalonic aciduria. In vitro biochemical findings that comprised a decreased propionate incorporation into macromolecules in cultured fibroblasts and a fully normal activity of methylmalonyl-CoA mutase in the same cells were fully explained by deficiency of methylmalonyl-CoA epimerase. <a href="#1" class="mim-tip-reference" title="Bikker, H., Bakker, H. D., Abeling, N. G. G. M., Poll-The, B. T., Kleijer, W. J., Rosenblatt, D. S., Waterham, H. R., Wanders, R. J. A., Duran, M. <strong>A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.</strong> Hum. Mutat. 27: 640-643, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752391</a>] [<a href="https://doi.org/10.1002/humu.20373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752391">Bikker et al. (2006)</a> identified a homozygous nonsense mutation in the MCEE gene (R47X; <a href="#0001">608419.0001</a>). Both parents were heterozygous for this mutation; they were found to excrete normal amounts of methylmalonic acid. The patient also had a DOPA-responsive dystonia which was shown to result from homozygous mutation in the sepiapterin reductase gene (<a href="/entry/182125#0005">182125.0005</a>). <a href="#1" class="mim-tip-reference" title="Bikker, H., Bakker, H. D., Abeling, N. G. G. M., Poll-The, B. T., Kleijer, W. J., Rosenblatt, D. S., Waterham, H. R., Wanders, R. J. A., Duran, M. <strong>A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.</strong> Hum. Mutat. 27: 640-643, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752391</a>] [<a href="https://doi.org/10.1002/humu.20373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752391">Bikker et al. (2006)</a> suggested that deficiency of methylmalonyl-CoA epimerase does not have a large clinical impact or could even be considered a nondisease. A functional role of methylmalonyl-CoA epimerase was the object of debate for a long time (<a href="#4" class="mim-tip-reference" title="Montgomery, J. A., Mamer, O. A., Scriver, C. R. <strong>Metabolism of methylmalonic acid in rats: Is methylmalonyl-coenzyme A racemase deficiency symptomatic in man?</strong> J. Clin. Invest. 72: 1937-1947, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6643681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6643681</a>] [<a href="https://doi.org/10.1172/JCI111158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6643681">Montgomery et al., 1983</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16752391+6643681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Dobson, C. M., Gradinger, A., Longo, N., Wu, X., Leclerc, D., Lerner-Ellis, J., Lemieux, M., Belair, C., Watkins, D., Rosenblatt, D. S., Gravel, R. A. <strong>Homozygous nonsense mutations in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.</strong> Molec. Genet. Metab. 88: 327-333, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16697227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16697227</a>] [<a href="https://doi.org/10.1016/j.ymgme.2006.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16697227">Dobson et al. (2006)</a> reported a patient homozygous for the R47X mutation. She had mild methylmalonic aciduria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16697227" 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 methylmalonyl-CoA epimerase deficiency, <a href="#5" class="mim-tip-reference" title="Waters, P. J., Thuriot, F., Clarke, J. T., Gravel, S., Watkins, D., Rosenblatt, D. S., Levesque, S. <strong>Methylmalonyl-CoA epimerase deficiency: a new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.</strong> Molec. Genet. Metab. Rep. 9: 19-24, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27699154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27699154</a>] [<a href="https://doi.org/10.1016/j.ymgmr.2016.09.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27699154">Waters et al. (2016)</a> identified compound heterozygous mutations in the MCEE gene: the R47X mutation and a novel intronic splice site mutation (c.379-644A-G; <a href="#0002">608419.0002</a>). The mother was heterozygous for the splice site mutation; the father was unavailable for study and was presumed to carry the R47X mutation. Gene expression studies in patient fibroblasts demonstrated that the splice site mutation resulted in an alternate transcript with inclusion of an additional 92 basepairs between exons 2 and 3 and a premature stop codon. Studies in patient fibroblasts demonstrated reduced propionate incorporation, which was corrected with cellular complementation with fibroblasts from patients in the mut, cblA, and cblB complementation classes, but not with fibroblasts from a patient in the MCEE complementation class. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27699154" 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> rs111033538 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033538;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/rs111033538?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=rs111033538" 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=rs111033538" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#1" class="mim-tip-reference" title="Bikker, H., Bakker, H. D., Abeling, N. G. G. M., Poll-The, B. T., Kleijer, W. J., Rosenblatt, D. S., Waterham, H. R., Wanders, R. J. A., Duran, M. <strong>A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.</strong> Hum. Mutat. 27: 640-643, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752391</a>] [<a href="https://doi.org/10.1002/humu.20373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752391">Bikker et al. (2006)</a> described a female patient born to consanguineous Caucasian parents with methylmalonyl-CoA epimerase deficiency (<a href="/entry/251120">251120</a>) and dystonia due to sepiapterin reductase deficiency (<a href="/entry/612716">612716</a>). The methylmalonyl-CoA epimerase deficiency was found to be caused by homozygosity for a 139C-T transition in exon 2 of the MCEE gene that resulted in an arg47 to ter substitution (R47X). This nonsense mutation was predicted to result in an inactive epimerase enzyme, since the transcript would probably be rapidly degraded by nonsense-mediated decay; alternatively, if the transcript were stable, only a small part of it would be translated, because of the early termination signal. The patient was homozygous for a second mutation, in the SPR gene resulting in sepiapterin reductase deficiency (<a href="/entry/182125#0005">182125.0005</a>); both parents were heterozygous for both mutations. Both genes map to chromosome 2. However, the sepiapterin reductase mutation in this family was a missense mutation, thus excluding the possibility of a contiguous gene syndrome. The clinical presentation of this patient closely resembled that described in a case of sepiapterin reductase deficiency with dystonia as the most prominent symptom. <a href="#1" class="mim-tip-reference" title="Bikker, H., Bakker, H. D., Abeling, N. G. G. M., Poll-The, B. T., Kleijer, W. J., Rosenblatt, D. S., Waterham, H. R., Wanders, R. J. A., Duran, M. <strong>A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.</strong> Hum. Mutat. 27: 640-643, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752391</a>] [<a href="https://doi.org/10.1002/humu.20373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752391">Bikker et al. (2006)</a> suggested that since this patient was homozygous for 2 mutations, it was likely that methylmalonyl-CoA epimerase deficiency does not have a large clinical impact, or could even be considered as a nondisease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Dobson, C. M., Gradinger, A., Longo, N., Wu, X., Leclerc, D., Lerner-Ellis, J., Lemieux, M., Belair, C., Watkins, D., Rosenblatt, D. S., Gravel, R. A. <strong>Homozygous nonsense mutations in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.</strong> Molec. Genet. Metab. 88: 327-333, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16697227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16697227</a>] [<a href="https://doi.org/10.1016/j.ymgme.2006.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16697227">Dobson et al. (2006)</a> reported a patient previously identified as belonging to the cobalamin A (cblA) complementation group (<a href="/entry/251100">251100</a>) but lacking mutations in the affected gene MMAA (<a href="/entry/607481">607481</a>). The patient's fibroblasts had normal levels of adenosylcobalamin compared to controls, whereas other cblA cell lines typically had reduced levels of the cofactor. The patient also had a milder form of methylmalonic aciduria than usually observed in cblA patients. The patient was homozygous for the R47X mutation in MCEE. One sib, also with mild methylmalonic aciduria, was also homozygous for the mutation. Both parents and one other sib were heterozygous. To assess the impact of isolated MCEE deficiency in cultured cells, HeLa cells were transfected with siRNA against MCEE. The reduced level of MCEE mRNA resulted in reduction of [(14)C]-propionate incorporation into cellular macromolecules. However, siRNA led to only a small reduction in pathway activity, suggesting that previously postulated nonenzymatic conversion of D- to L-methylmalonyl-CoA may contribute to some flux through the pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16697227" 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 METHYLMALONYL-CoA EPIMERASE DEFICIENCY</strong>
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MCEE, c.379-644A-G
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003152404" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003152404" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003152404</a>
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<p>In a patient with methylmalonyl-CoA epimerase deficiency, <a href="#5" class="mim-tip-reference" title="Waters, P. J., Thuriot, F., Clarke, J. T., Gravel, S., Watkins, D., Rosenblatt, D. S., Levesque, S. <strong>Methylmalonyl-CoA epimerase deficiency: a new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.</strong> Molec. Genet. Metab. Rep. 9: 19-24, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27699154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27699154</a>] [<a href="https://doi.org/10.1016/j.ymgmr.2016.09.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27699154">Waters et al. (2016)</a> identified compound heterozygous mutations in the MCEE gene: the R47X mutation (<a href="#0001">608419.0001</a>) in exon 2 and an intronic splice site mutation (c.379-644A-G). The R47X mutation was identified by exon sequencing and the splicing mutation by RNA studies. The mother was heterozygous for the splice site mutation; the father was unavailable for study and was presumed to carry the R47X mutation. Gene expression studies in patient fibroblasts demonstrated that the c.379-644A-G mutation resulted in an alternate transcript with inclusion of an additional 92 basepairs between exons 2 and 3 and a premature stop codon. Studies in patient fibroblasts demonstrated reduced propionate incorporation, which was corrected with cellular complementation with fibroblasts from patients in the mut, cblA, and cblB complementation classes, but not with fibroblasts from a patient in the MCEE complementation class. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27699154" 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>REFERENCES</strong>
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Bikker, H., Bakker, H. D., Abeling, N. G. G. M., Poll-The, B. T., Kleijer, W. J., Rosenblatt, D. S., Waterham, H. R., Wanders, R. J. A., Duran, M.
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<strong>A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.</strong>
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Hum. Mutat. 27: 640-643, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752391</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752391" 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.20373" target="_blank">Full Text</a>]
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Bobik, T. A., Rasche, M. E.
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<strong>Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements: implications for decoding the human genome.</strong>
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J. Biol. Chem. 276: 37194-37198, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11481338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11481338</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11481338" 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.M107232200" target="_blank">Full Text</a>]
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Dobson, C. M., Gradinger, A., Longo, N., Wu, X., Leclerc, D., Lerner-Ellis, J., Lemieux, M., Belair, C., Watkins, D., Rosenblatt, D. S., Gravel, R. A.
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<strong>Homozygous nonsense mutations in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.</strong>
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Molec. Genet. Metab. 88: 327-333, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16697227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16697227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16697227" 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.2006.03.009" target="_blank">Full Text</a>]
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Montgomery, J. A., Mamer, O. A., Scriver, C. R.
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<strong>Metabolism of methylmalonic acid in rats: Is methylmalonyl-coenzyme A racemase deficiency symptomatic in man?</strong>
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J. Clin. Invest. 72: 1937-1947, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6643681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6643681</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6643681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI111158" target="_blank">Full Text</a>]
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Waters, P. J., Thuriot, F., Clarke, J. T., Gravel, S., Watkins, D., Rosenblatt, D. S., Levesque, S.
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<strong>Methylmalonyl-CoA epimerase deficiency: a new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.</strong>
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Molec. Genet. Metab. Rep. 9: 19-24, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27699154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27699154</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27699154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hilary J. Vernon - updated : 02/01/2023
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Ada Hamosh - updated : 6/28/2007<br>Victor A. McKusick - updated : 7/13/2006
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carol : 02/01/2023<br>carol : 06/21/2016<br>carol : 4/15/2009<br>alopez : 7/6/2007<br>alopez : 7/6/2007<br>terry : 6/28/2007<br>alopez : 7/20/2006<br>terry : 7/13/2006<br>mgross : 1/23/2004
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 2p13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:71,109,687-71,130,229 </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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2p13.3
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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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Methylmalonyl-CoA epimerase deficiency
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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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251120
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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>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>By searching for sequences similar to prokaryotic lactoylglutathione lyases, followed by PCR of a liver cDNA library, Bobik and Rasche (2001) cloned MCEE. The deduced 176-amino acid protein contains an N-terminal mitochondrial targeting sequence. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Bobik and Rasche (2001) demonstrated that MCEE has DL-methylmalonyl-CoA racemase activity. </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>Bobik and Rasche (2001) determined that the MCEE gene contains 3 exons. </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">
|
|
<strong>Mapping</strong>
|
|
</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 genomic sequence analysis, Bobik and Rasche (2001) mapped the MCEE gene to chromosome 2. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p>Bikker et al. (2006) reported a 16-year-old female patient with persistent moderate methylmalonic aciduria. In vitro biochemical findings that comprised a decreased propionate incorporation into macromolecules in cultured fibroblasts and a fully normal activity of methylmalonyl-CoA mutase in the same cells were fully explained by deficiency of methylmalonyl-CoA epimerase. Bikker et al. (2006) identified a homozygous nonsense mutation in the MCEE gene (R47X; 608419.0001). Both parents were heterozygous for this mutation; they were found to excrete normal amounts of methylmalonic acid. The patient also had a DOPA-responsive dystonia which was shown to result from homozygous mutation in the sepiapterin reductase gene (182125.0005). Bikker et al. (2006) suggested that deficiency of methylmalonyl-CoA epimerase does not have a large clinical impact or could even be considered a nondisease. A functional role of methylmalonyl-CoA epimerase was the object of debate for a long time (Montgomery et al., 1983). </p><p>Dobson et al. (2006) reported a patient homozygous for the R47X mutation. She had mild methylmalonic aciduria. </p><p>In a patient with methylmalonyl-CoA epimerase deficiency, Waters et al. (2016) identified compound heterozygous mutations in the MCEE gene: the R47X mutation and a novel intronic splice site mutation (c.379-644A-G; 608419.0002). The mother was heterozygous for the splice site mutation; the father was unavailable for study and was presumed to carry the R47X mutation. Gene expression studies in patient fibroblasts demonstrated that the splice site mutation resulted in an alternate transcript with inclusion of an additional 92 basepairs between exons 2 and 3 and a premature stop codon. Studies in patient fibroblasts demonstrated reduced propionate incorporation, which was corrected with cellular complementation with fibroblasts from patients in the mut, cblA, and cblB complementation classes, but not with fibroblasts from a patient in the MCEE complementation class. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>2 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 METHYLMALONYL-CoA EPIMERASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MCEE, ARG47TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033538,
|
|
|
|
|
|
gnomAD: rs111033538,
|
|
|
|
|
|
ClinVar: RCV000002434, RCV000598126, RCV002512676, RCV003486541, RCV004758586
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Bikker et al. (2006) described a female patient born to consanguineous Caucasian parents with methylmalonyl-CoA epimerase deficiency (251120) and dystonia due to sepiapterin reductase deficiency (612716). The methylmalonyl-CoA epimerase deficiency was found to be caused by homozygosity for a 139C-T transition in exon 2 of the MCEE gene that resulted in an arg47 to ter substitution (R47X). This nonsense mutation was predicted to result in an inactive epimerase enzyme, since the transcript would probably be rapidly degraded by nonsense-mediated decay; alternatively, if the transcript were stable, only a small part of it would be translated, because of the early termination signal. The patient was homozygous for a second mutation, in the SPR gene resulting in sepiapterin reductase deficiency (182125.0005); both parents were heterozygous for both mutations. Both genes map to chromosome 2. However, the sepiapterin reductase mutation in this family was a missense mutation, thus excluding the possibility of a contiguous gene syndrome. The clinical presentation of this patient closely resembled that described in a case of sepiapterin reductase deficiency with dystonia as the most prominent symptom. Bikker et al. (2006) suggested that since this patient was homozygous for 2 mutations, it was likely that methylmalonyl-CoA epimerase deficiency does not have a large clinical impact, or could even be considered as a nondisease. </p><p>Dobson et al. (2006) reported a patient previously identified as belonging to the cobalamin A (cblA) complementation group (251100) but lacking mutations in the affected gene MMAA (607481). The patient's fibroblasts had normal levels of adenosylcobalamin compared to controls, whereas other cblA cell lines typically had reduced levels of the cofactor. The patient also had a milder form of methylmalonic aciduria than usually observed in cblA patients. The patient was homozygous for the R47X mutation in MCEE. One sib, also with mild methylmalonic aciduria, was also homozygous for the mutation. Both parents and one other sib were heterozygous. To assess the impact of isolated MCEE deficiency in cultured cells, HeLa cells were transfected with siRNA against MCEE. The reduced level of MCEE mRNA resulted in reduction of [(14)C]-propionate incorporation into cellular macromolecules. However, siRNA led to only a small reduction in pathway activity, suggesting that previously postulated nonenzymatic conversion of D- to L-methylmalonyl-CoA may contribute to some flux through the pathway. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 METHYLMALONYL-CoA EPIMERASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MCEE, c.379-644A-G
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV003152404
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with methylmalonyl-CoA epimerase deficiency, Waters et al. (2016) identified compound heterozygous mutations in the MCEE gene: the R47X mutation (608419.0001) in exon 2 and an intronic splice site mutation (c.379-644A-G). The R47X mutation was identified by exon sequencing and the splicing mutation by RNA studies. The mother was heterozygous for the splice site mutation; the father was unavailable for study and was presumed to carry the R47X mutation. Gene expression studies in patient fibroblasts demonstrated that the c.379-644A-G mutation resulted in an alternate transcript with inclusion of an additional 92 basepairs between exons 2 and 3 and a premature stop codon. Studies in patient fibroblasts demonstrated reduced propionate incorporation, which was corrected with cellular complementation with fibroblasts from patients in the mut, cblA, and cblB complementation classes, but not with fibroblasts from a patient in the MCEE complementation class. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bikker, H., Bakker, H. D., Abeling, N. G. G. M., Poll-The, B. T., Kleijer, W. J., Rosenblatt, D. S., Waterham, H. R., Wanders, R. J. A., Duran, M.
|
|
<strong>A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.</strong>
|
|
Hum. Mutat. 27: 640-643, 2006.
|
|
|
|
|
|
[PubMed: 16752391]
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[Full Text: https://doi.org/10.1002/humu.20373]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Bobik, T. A., Rasche, M. E.
|
|
<strong>Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements: implications for decoding the human genome.</strong>
|
|
J. Biol. Chem. 276: 37194-37198, 2001.
|
|
|
|
|
|
[PubMed: 11481338]
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|
|
[Full Text: https://doi.org/10.1074/jbc.M107232200]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Dobson, C. M., Gradinger, A., Longo, N., Wu, X., Leclerc, D., Lerner-Ellis, J., Lemieux, M., Belair, C., Watkins, D., Rosenblatt, D. S., Gravel, R. A.
|
|
<strong>Homozygous nonsense mutations in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.</strong>
|
|
Molec. Genet. Metab. 88: 327-333, 2006.
|
|
|
|
|
|
[PubMed: 16697227]
|
|
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|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2006.03.009]
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|
</p>
|
|
</li>
|
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Montgomery, J. A., Mamer, O. A., Scriver, C. R.
|
|
<strong>Metabolism of methylmalonic acid in rats: Is methylmalonyl-coenzyme A racemase deficiency symptomatic in man?</strong>
|
|
J. Clin. Invest. 72: 1937-1947, 1983.
|
|
|
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|
|
[PubMed: 6643681]
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|
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|
|
[Full Text: https://doi.org/10.1172/JCI111158]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Waters, P. J., Thuriot, F., Clarke, J. T., Gravel, S., Watkins, D., Rosenblatt, D. S., Levesque, S.
|
|
<strong>Methylmalonyl-CoA epimerase deficiency: a new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.</strong>
|
|
Molec. Genet. Metab. Rep. 9: 19-24, 2016.
|
|
|
|
|
|
[PubMed: 27699154]
|
|
|
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|
|
[Full Text: https://doi.org/10.1016/j.ymgmr.2016.09.001]
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</p>
|
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Hilary J. Vernon - updated : 02/01/2023<br>Ada Hamosh - updated : 6/28/2007<br>Victor A. McKusick - updated : 7/13/2006
|
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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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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Patricia A. Hartz : 1/23/2004
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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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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Edit History:
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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carol : 02/02/2023<br>carol : 02/01/2023<br>carol : 06/21/2016<br>carol : 4/15/2009<br>alopez : 7/6/2007<br>alopez : 7/6/2007<br>terry : 6/28/2007<br>alopez : 7/20/2006<br>terry : 7/13/2006<br>mgross : 1/23/2004
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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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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
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and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
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medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
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