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Entry
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- *120920 - CD46 ANTIGEN; CD46
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- OMIM
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<p>
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<span class="h4">*120920</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/120920">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000117335;t=ENST00000367042" 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=4179" 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=120920" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000117335;t=ENST00000367042" 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_002389,NM_153826,NM_172350,NM_172351,NM_172352,NM_172353,NM_172355,NM_172356,NM_172357,NM_172358,NM_172359,NM_172361,XM_011509563,XM_047420888,XM_047420894,XM_047420901,XM_047420909" 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_172351" 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=120920" 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=00406&isoform_id=00406_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/CD46" 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/34505,180137,262938,512457,1256701,1617311,4261668,8163760,8163762,8163764,21040401,24432108,27502402,27502405,27502407,27502409,27502411,27502415,27502417,27502419,27502421,27502423,27502427,31873402,34364627,41019474,57997593,58802455,62897203,115393874,118406826,118406828,118406830,118406832,119613869,119613870,119613871,119613872,119613873,119613874,119613875,119613876,119613877,119613878,119613879,119613880,119613881,119613882,119613883,158255890,194384464,767909333,2217267516,2217267519,2217267521,2217267523,2462509280,2462509282,2462509284,2462509286,2462509288" 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/P15529" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=4179" 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=ENSG00000117335;t=ENST00000367042" 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=CD46" 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=CD46" 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+4179" 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/CD46" 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:4179" 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/4179" 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=chr1&hgg_gene=ENST00000367042.6&hgg_start=207752038&hgg_end=207795516&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:6953" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=120920[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=120920[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/ENSG00000117335" 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=CD46" 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=CD46" 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=CD46" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CD46&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/PA30700" 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:6953" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0030617.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1203290" 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/CD46#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:1203290" 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/4179/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://omia.org/OMIA002699/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=4179" 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>
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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:4179" 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=CD46&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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</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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120920
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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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CD46 ANTIGEN; CD46
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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TROPHOBLAST-LYMPHOCYTE CROSS-REACTIVE ANTIGEN; TLX<br />
|
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MEMBRANE COFACTOR PROTEIN; MCP<br />
|
|
COMPLEMENT MEMBRANE COFACTOR PROTEIN<br />
|
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ANTIGEN DEFINED BY MONOCLONAL ANTIBODY TRA-2-10; MIC10
|
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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=CD46" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CD46</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/1/1659?start=-3&limit=10&highlight=1659">1q32.2</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:207752038-207795516&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'})">1:207,752,038-207,795,516</a> </span>
|
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</em>
|
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
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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/1/1659?start=-3&limit=10&highlight=1659">
|
|
1q32.2
|
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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">
|
|
{Hemolytic uremic syndrome, atypical, susceptibility to, 2}
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/612922"> 612922 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</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/120920" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/120920" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<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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|
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<span class="mim-font">
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<p>MCP, a C3B/C4B-binding molecule of the complement system with cofactor activity for the I-dependent cleavage of C3B and C4B, is widely distributed in white blood cells, platelets, epithelial cells, and fibroblasts (<a href="#14" class="mim-tip-reference" title="Lublin, D. M., Liszewski, M. K., Post, T. W., Arce, M. A., LeBeau, M. M., Rebentisch, M. B., Lemons, R. S., Seya, T., Atkinson, J. P. <strong>Molecular cloning and chromosomal localization of human complement membrane cofactor protein (MCP): evidence for inclusion in the multigene family of complement-regulatory proteins.</strong> J. Exp. Med. 168: 181-194, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3260937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3260937</a>] [<a href="https://doi.org/10.1084/jem.168.1.181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3260937">Lublin et al., 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3260937" 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="#14" class="mim-tip-reference" title="Lublin, D. M., Liszewski, M. K., Post, T. W., Arce, M. A., LeBeau, M. M., Rebentisch, M. B., Lemons, R. S., Seya, T., Atkinson, J. P. <strong>Molecular cloning and chromosomal localization of human complement membrane cofactor protein (MCP): evidence for inclusion in the multigene family of complement-regulatory proteins.</strong> J. Exp. Med. 168: 181-194, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3260937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3260937</a>] [<a href="https://doi.org/10.1084/jem.168.1.181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3260937">Lublin et al. (1988)</a> purified MCP from a human T-cell line and determined the sequence of the N-terminal 24 amino acids. An oligonucleotide probe was used to identify a clone from a human monocyte cDNA library. The deduced full-length MCP consists of a 34-amino acid signal peptide and a 350-amino acid mature protein. The protein has, beginning at the N terminus, 4 cysteine-rich repeating units (short consensus repeats, or SCRs) of about 60 amino acids each that match the consensus sequence found in a multigene family of complement regulatory proteins: CR1 (<a href="/entry/120620">120620</a>), CR2 (<a href="/entry/120650">120650</a>), C4BP (<a href="/entry/120830">120830</a>), CFH (<a href="/entry/134370">134370</a>), and DAF (<a href="/entry/125240">125240</a>). Immediately C-terminal of the SCRs is a serine/threonine/proline (STP)-rich region, a likely area for extensive O-glycosylation. MCP also has a transmembrane domain, a basic amino acid anchor, and a cytoplasmic tail. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3260937" 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="#21" class="mim-tip-reference" title="Purcell, D. F. J., Johnstone, R. W., McKenzie, I. F. C. <strong>Identification of four different CD46 (MCP) molecules with anti-peptide antibodies.</strong> Biochem. Biophys. Res. Commun. 180: 1091-1097, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1953714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1953714</a>] [<a href="https://doi.org/10.1016/s0006-291x(05)81178-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1953714">Purcell et al. (1991)</a> and <a href="#20" class="mim-tip-reference" title="Post, T. W., Liszewski, M. K., Adams, E. M., Tedja, I., Miller, E. A., Atkinson, J. P. <strong>Membrane cofactor protein of the complement system: alternative splicing of serine/threonine/proline-rich exons and cytoplasmic tails produces multiple isoforms that correlate with protein phenotype.</strong> J. Exp. Med. 174: 93-102, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1711570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1711570</a>] [<a href="https://doi.org/10.1084/jem.174.1.93" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1711570">Post et al. (1991)</a> identified 4 and 6 isoforms of MCP, respectively. <a href="#20" class="mim-tip-reference" title="Post, T. W., Liszewski, M. K., Adams, E. M., Tedja, I., Miller, E. A., Atkinson, J. P. <strong>Membrane cofactor protein of the complement system: alternative splicing of serine/threonine/proline-rich exons and cytoplasmic tails produces multiple isoforms that correlate with protein phenotype.</strong> J. Exp. Med. 174: 93-102, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1711570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1711570</a>] [<a href="https://doi.org/10.1084/jem.174.1.93" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1711570">Post et al. (1991)</a> demonstrated that the 6 isoforms vary in having 1 of 2 cytoplasmic tails and by having either all 3 STP regions (termed A, B, and C) or only STP-BC or STP-C. They showed that the STP-C isoforms are expressed as 45- to 55-kD proteins, the STP-BC isoforms are expressed as 55- to 65-kD proteins, and the STP-ABC isoforms are expressed as 65- to 75-kD proteins. The 65- to 75-kD variants were not expressed on peripheral blood cells or cell lines. <a href="#20" class="mim-tip-reference" title="Post, T. W., Liszewski, M. K., Adams, E. M., Tedja, I., Miller, E. A., Atkinson, J. P. <strong>Membrane cofactor protein of the complement system: alternative splicing of serine/threonine/proline-rich exons and cytoplasmic tails produces multiple isoforms that correlate with protein phenotype.</strong> J. Exp. Med. 174: 93-102, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1711570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1711570</a>] [<a href="https://doi.org/10.1084/jem.174.1.93" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1711570">Post et al. (1991)</a> concluded that the presence of the B region of the STP area, which is richer in O-linked sugars, determines the expression of the 2 broad protein species. They also noted that up to 4 different forms of MCP are expressed on a single cell. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1711570+1953714" 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="#16" class="mim-tip-reference" title="McIntyre, J. A., Faulk, W. P., Verhulst, S. J., Colliver, J. A. <strong>Human trophoblast-lymphocyte cross-reactive (TLX) antigens define a new alloantigen system.</strong> Science 222: 1135-1137, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6648525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6648525</a>] [<a href="https://doi.org/10.1126/science.6648525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6648525">McIntyre et al. (1983)</a> found that antisera to human syncytiotrophoblast microvillus cell surface membranes from different placentas are cytotoxic for lymphocytes from some persons but not others. Study of 10 antisera on lymphocytes from 30 donors suggested the presence of 3 distinct TLX groupings. <a href="#16" class="mim-tip-reference" title="McIntyre, J. A., Faulk, W. P., Verhulst, S. J., Colliver, J. A. <strong>Human trophoblast-lymphocyte cross-reactive (TLX) antigens define a new alloantigen system.</strong> Science 222: 1135-1137, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6648525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6648525</a>] [<a href="https://doi.org/10.1126/science.6648525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6648525">McIntyre et al. (1983)</a> proposed that TLX alloantigens are central in establishing maternal recognition and protection of the blastocyst, and that lack of recognition results in implantation failure and spontaneous abortion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6648525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Dorig, R. E., Marcil, A., Chopra, A., Richardson, C. D. <strong>The human CD46 molecule is a receptor for measles virus (Edmonston strain).</strong> Cell 75: 295-305, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8402913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8402913</a>] [<a href="https://doi.org/10.1016/0092-8674(93)80071-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8402913">Dorig et al. (1993)</a> used a genetic approach to identify the receptor for measles virus (MV). They tested human/rodent somatic cell hybrids for their ability to bind the Edmonston strain of MV and found that only cells containing human chromosome 1 were capable of binding virus. Rodent cells could not bind MV. A study of lymphocyte markers suggested that CD46 is the MV receptor. <a href="#5" class="mim-tip-reference" title="Dorig, R. E., Marcil, A., Chopra, A., Richardson, C. D. <strong>The human CD46 molecule is a receptor for measles virus (Edmonston strain).</strong> Cell 75: 295-305, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8402913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8402913</a>] [<a href="https://doi.org/10.1016/0092-8674(93)80071-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8402913">Dorig et al. (1993)</a> showed that hamster cell lines expressing human CD46 could bind MV. Furthermore, infected CD46+ cells produced syncytia and viral proteins. Finally, polyclonal antisera against CD46 inhibited MV binding and infection. <a href="#5" class="mim-tip-reference" title="Dorig, R. E., Marcil, A., Chopra, A., Richardson, C. D. <strong>The human CD46 molecule is a receptor for measles virus (Edmonston strain).</strong> Cell 75: 295-305, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8402913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8402913</a>] [<a href="https://doi.org/10.1016/0092-8674(93)80071-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8402913">Dorig et al. (1993)</a> concluded that CD46 is receptor for the Edmonston strain of MV. However, <a href="#25" class="mim-tip-reference" title="Tatsuo, H., Ono, N., Tanaka, K., Yanagi, Y. <strong>SLAM (CDw150) is a cellular receptor for measles virus.</strong> Nature 406: 893-897, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10972291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10972291</a>] [<a href="https://doi.org/10.1038/35022579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10972291">Tatsuo et al. (2000)</a> noted that although the Edmonston strain of MV and the vaccine strains derived from it use CD46 as a cellular receptor, most clinical isolates do not. They showed that SLAM (<a href="/entry/603492">603492</a>), but not CD46, could act as a cellular receptor for clinical strains of MV. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10972291+8402913" 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>Human herpesvirus-6 (HHV-6) is the etiologic agent of exanthema subitum, causes opportunistic infections in immunocompromised patients, and has been implicated in multiple sclerosis and in the progression of AIDS. <a href="#23" class="mim-tip-reference" title="Santoro, F., Kennedy, P. E., Locatelli, G., Malnati, M. S., Berger, E. A., Lusso, P. <strong>CD46 is a cellular receptor for human herpesvirus 6.</strong> Cell 99: 817-827, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10619434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10619434</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81678-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10619434">Santoro et al. (1999)</a> showed that the 2 major HHV-6 subgroups (A and B) use human CD46 as a cellular receptor. Downregulation of surface CD46 was documented during the course of HHV-6 infection. Both acute infection and cell fusion mediated by HHV-6 were specifically inhibited by a monoclonal antibody to CD46; fusion was also blocked by soluble CD46. Nonhuman cells that were resistant to HHV-6 fusion and entry became susceptible upon expression of recombinant human CD46. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10619434" 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>CD46 acts as a cellular receptor for type IV pili of pathogenic Neisseria. The binding of piliated bacteria to host cells can be inhibited by antibody to CD46 or the recombinant molecule. <a href="#11" class="mim-tip-reference" title="Kallstrom, H., Gill, D. B., Albiger, B., Liszewski, M. K., Atkinson, J. P., Jonsson, A.-B. <strong>Attachment of Neisseria gonorrhoeae to the cellular pilus receptor CD46: identification of domains important for bacterial adherence.</strong> Cell. Microbiol. 3: 133-143, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11260136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11260136</a>] [<a href="https://doi.org/10.1046/j.1462-5822.2001.00095.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11260136">Kallstrom et al. (2001)</a> showed that the BC1 phenotype of the STP domain as well as the complement control protein repeat 3 (CCP3) of CD46 are important for efficient adherence of N. gonorrhoeae to host cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11260136" 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="#13" class="mim-tip-reference" title="Kemper, C., Chan, A. C., Green, J. M., Brett, K. A., Murphy, K. M., Atkinson, J. P. <strong>Activation of human CD4+ cells with CD3 and CD46 induces a T-regulatory cell 1 phenotype.</strong> Nature 421: 388-392, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12540904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12540904</a>] [<a href="https://doi.org/10.1038/nature01315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12540904">Kemper et al. (2003)</a> examined the requirements for activation of T-regulatory-1 (Tr1) cells, which are defined as CD4 (<a href="/entry/186940">186940</a>)-positive T lymphocytes that secrete IL10 (<a href="/entry/124092">124092</a>) and suppress T-helper cells. Stimulation of purified CD4-positive T cells with monoclonal antibodies to CD3 (see <a href="/entry/186740">186740</a>) and CD46 in the presence of IL2 (<a href="/entry/147680">147680</a>) or anti-CD28 (<a href="/entry/186760">186760</a>) induced the secretion of large amounts of IL10 and sustained proliferation, as measured by flow cytometric analysis for expression of PCNA (<a href="/entry/176740">176740</a>). CD45RA-positive/CD45RO-negative (naive) T cells and CD45RA-positive/CD45RO-positive (high-responding) T cells produced IL10 in response to these agonists, while CD45RA-negative/CD45RO-positive (memory) T cells did not. After primary anti-CD3/anti-CD46 activation, however, both naive and high-responding CD4-positive T cells acquired an IL10-producing memory phenotype (CD45RA-negative/CD45RO-positive). Stimulation of CD4-positive T cells with anti-CD3/anti-CD28 without anti-CD46 failed to induce IL10 production and caused the production of large amounts of IL2. Stimulation with anti-CD3/anti-CD28 in the presence of complement factor C3b (<a href="/entry/120700">120700</a>) dimers resulted in IL10 secretion comparable to that of anti-CD3/anti-CD28/anti-CD46-activated T cells. Supernatants of the anti-CD3/anti-CD46-activated T cells induced IL10-mediated suppression of proliferation by bystander T cells. <a href="#13" class="mim-tip-reference" title="Kemper, C., Chan, A. C., Green, J. M., Brett, K. A., Murphy, K. M., Atkinson, J. P. <strong>Activation of human CD4+ cells with CD3 and CD46 induces a T-regulatory cell 1 phenotype.</strong> Nature 421: 388-392, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12540904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12540904</a>] [<a href="https://doi.org/10.1038/nature01315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12540904">Kemper et al. (2003)</a> concluded that CD46 has a role in human T-cell regulation and that these findings establish a link between the complement system and adaptive immunity. They proposed that Tr1 cells are essential for maintaining peripheral tolerance and preventing autoimmunity, as well as for responses to many pathogens. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12540904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Kallstrom, H., Liszewski, M. K., Atkinson, J. P., Jonsson, A.-B. <strong>Membrane cofactor protein (MCP or CD46) is a cellular pilus receptor for pathogenic Neisseria.</strong> Molec. Microbiol. 25: 639-647, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9379894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9379894</a>] [<a href="https://doi.org/10.1046/j.1365-2958.1997.4841857.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9379894">Kallstrom et al. (1997)</a> identified CD46 as a human cell surface receptor for piliated pathogenic Neisseria. <a href="#10" class="mim-tip-reference" title="Johansson, L., Rytkonen, A., Bergman, P., Albiger, B., Kallstrom, H., Hokfelt, T., Agerberth, B., Cattaneo, R., Jonsson, A.-B. <strong>CD46 in meningococcal disease.</strong> Science 301: 373-375, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12869763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12869763</a>] [<a href="https://doi.org/10.1126/science.1086476" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12869763">Johansson et al. (2003)</a> generated transgenic mice expressing human CD46 and found they were susceptible to meningococcal disease because bacteria crossed the blood-brain barrier in these mice. Development of disease was more efficient with piliated bacteria after intranasal but not intraperitoneal challenge of Cd46 transgenic mice, suggesting that human CD46 facilitates pilus-dependent interactions at the epithelial mucosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12869763+9379894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Gaggar, A., Shayakhmetov, D. M., Lieber, A. <strong>CD46 is a cellular receptor for group B adenoviruses.</strong> Nature Med. 9: 1408-1412, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14566335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14566335</a>] [<a href="https://doi.org/10.1038/nm952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14566335">Gaggar et al. (2003)</a> showed that, unlike most adenoviruses, group B adenoviruses use CD46 rather than CAR (CXADR; <a href="/entry/602621">602621</a>) to infect cells. Mass spectrometric, immunoblot, and fluorescence microscopy analyses determined that the group B fiber knob domain interacts with CD46. The authors found that, with the exception of Ad3, viruses of the B1 respiratory and B2 kidney and urinary tract subgroups both use the CD46 receptor. Expression of human CD46 rendered nonhuman cells susceptible to group B adenovirus infection in vitro and in vivo, and infection could be blocked by CD46 siRNA or soluble CD46 protein. <a href="#9" class="mim-tip-reference" title="Gaggar, A., Shayakhmetov, D. M., Lieber, A. <strong>CD46 is a cellular receptor for group B adenoviruses.</strong> Nature Med. 9: 1408-1412, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14566335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14566335</a>] [<a href="https://doi.org/10.1038/nm952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14566335">Gaggar et al. (2003)</a> concluded that CD46 is an essential receptor for group B adenoviruses and that this knowledge may facilitate the development of novel methods for adenovirus-mediated gene transfer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14566335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The placenta is an immunologically privileged site. Using DNA microarrays to compare gene expression patterns, <a href="#24" class="mim-tip-reference" title="Sood, R., Zehnder, J. L., Druzin, M. L., Brown, P. O. <strong>Gene expression patterns in human placenta.</strong> Proc. Nat. Acad. Sci. 103: 5478-5483, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16567644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16567644</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16567644[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0508035103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16567644">Sood et al. (2006)</a> found that 3 regulators of complement, CD55 (<a href="/entry/125240">125240</a>), CD59 (<a href="/entry/107271">107271</a>), and MCP, are expressed at higher levels in normal placental villus sections compared with other normal human tissues. Within the placenta, CD55 and CD59 are expressed at greatest levels in amnion, followed by chorion and villus sections, whereas MCP is expressed at higher levels only in villus sections. These inhibitors of complement are expressed on syncytiotrophoblasts, the specialized placental cells lining the villi that are in direct contact with maternal blood. The amnion compared with chorion is remarkably nonimmunogenic, and the immune properties of the amnion are intriguing because it is not in direct contact with maternal cells. <a href="#24" class="mim-tip-reference" title="Sood, R., Zehnder, J. L., Druzin, M. L., Brown, P. O. <strong>Gene expression patterns in human placenta.</strong> Proc. Nat. Acad. Sci. 103: 5478-5483, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16567644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16567644</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16567644[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0508035103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16567644">Sood et al. (2006)</a> suggested that the amnion may secrete the complement inhibitors themselves or in the form of protected exosomes into the amniotic fluid or the neighboring maternofetal junction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16567644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using confocal microscopy, <a href="#18" class="mim-tip-reference" title="Oliaro, J., Pasam, A., Waterhouse, N. J., Browne, K. A., Ludford-Menting, M. J., Trapani, J. A., Russell, S. M. <strong>Ligation of the cell surface receptor, CD46, alters T cell polarity and response to antigen presentation.</strong> Proc. Nat. Acad. Sci. 103: 18685-18690, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17116876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17116876</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17116876[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0602458103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17116876">Oliaro et al. (2006)</a> demonstrated that treatment of T or natural killer (NK) cytotoxic lymphocytes with anti-CD46 beads, but not anti-transferrin receptor (TFRC; <a href="/entry/190010">190010</a>) beads, resulted in recruitment of the microtubule-organizing center (MTOC) and perforin (PRF1; <a href="/entry/170280">170280</a>) to the site of CD46 ligation, indicating cell polarization. Ligation with soluble anti-CD46 altered T-cell polarization, inhibiting IFNG (<a href="/entry/147570">147570</a>) production. CD46 ligation also prevented normal polarization of T cells towards antigen-presenting cells (APCs) and prevented immune synapse formation, but it did not affect interaction of NK cells with target cells. Cells expressing measles hemagglutinin ligated CD46 on T cells and recruited the MTOC and CD3 to the site. These T cells only produced IFNG with the addition of anti-CD3/CD28. <a href="#18" class="mim-tip-reference" title="Oliaro, J., Pasam, A., Waterhouse, N. J., Browne, K. A., Ludford-Menting, M. J., Trapani, J. A., Russell, S. M. <strong>Ligation of the cell surface receptor, CD46, alters T cell polarity and response to antigen presentation.</strong> Proc. Nat. Acad. Sci. 103: 18685-18690, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17116876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17116876</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17116876[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0602458103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17116876">Oliaro et al. (2006)</a> concluded that external signals can alter lymphocyte polarization toward APC or target cells and inhibit lymphocyte function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17116876" 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="#20" class="mim-tip-reference" title="Post, T. W., Liszewski, M. K., Adams, E. M., Tedja, I., Miller, E. A., Atkinson, J. P. <strong>Membrane cofactor protein of the complement system: alternative splicing of serine/threonine/proline-rich exons and cytoplasmic tails produces multiple isoforms that correlate with protein phenotype.</strong> J. Exp. Med. 174: 93-102, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1711570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1711570</a>] [<a href="https://doi.org/10.1084/jem.174.1.93" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1711570">Post et al. (1991)</a> determined that the MCP gene contains 14 exons and spans 43 kb. Exons 7, 8, and 9 encode the A, B, and C regions of the STP area, respectively. Exon 13 encodes a 16-residue cytoplasmic tail, whereas use of exon 14 results in a 23-amino acid tail. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1711570" 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="#4" class="mim-tip-reference" title="Cui, W., Hourcade, D., Post, T., Greenlund, A. C., Atkinson, J. P., Kumar, V. <strong>Characterization of the promoter region of the membrane cofactor protein (CD46) gene of the human complement system and comparison to a membrane cofactor protein-like genetic element.</strong> J. Immun. 151: 4137-4146, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7691939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7691939</a>]" pmid="7691939">Cui et al. (1993)</a> analyzed the promoter region of the CD46 gene. They detected a GC-rich region as well as a CAAT box in reverse orientation surrounded by 4 putative SP1-binding sites, but no TATA element, suggesting that CD46 is a housekeeping gene. Reporter assays determined that promoter activity is confined to the GC-rich region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7691939" 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="Andrews, P. W., Knowles, B. B., Parkar, M., Pym, B., Stanley, K., Goodfellow, P. N. <strong>A human cell-surface antigen defined by a monoclonal antibody and controlled by a gene on human chromosome 1.</strong> Ann. Hum. Genet. 49: 31-39, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2416262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2416262</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1985.tb01673.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2416262">Andrews et al. (1985)</a> studied an antigen expressed by most human cells, but not erythrocytes, and defined by monoclonal antibody TRA-2-10. The antigen was expressed on the surface of human-mouse somatic cell hybrids; segregation analysis showed that the antigen is determined by a gene (MCP1) on human chromosome 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2416262" 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="#14" class="mim-tip-reference" title="Lublin, D. M., Liszewski, M. K., Post, T. W., Arce, M. A., LeBeau, M. M., Rebentisch, M. B., Lemons, R. S., Seya, T., Atkinson, J. P. <strong>Molecular cloning and chromosomal localization of human complement membrane cofactor protein (MCP): evidence for inclusion in the multigene family of complement-regulatory proteins.</strong> J. Exp. Med. 168: 181-194, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3260937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3260937</a>] [<a href="https://doi.org/10.1084/jem.168.1.181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3260937">Lublin et al. (1988)</a> localized the MCP gene to 1q31-q41 by Southern analysis of human-rodent somatic cell hybrid DNA and by in situ hybridization. This was the sixth member of this multigene family that had been assigned to this region of the genome. <a href="#2" class="mim-tip-reference" title="Bora, N. S., Lublin, D. M., Kumar, B. V., Hockett, R. D., Holers, V. M., Atkinson, J. P. <strong>Structural gene for human membrane cofactor protein (MCP) of complement maps to within 100 kb of the 3-prime end of the C3b/C4b receptor gene.</strong> J. Exp. Med. 169: 597-602, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2521358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2521358</a>] [<a href="https://doi.org/10.1084/jem.169.2.597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2521358">Bora et al. (1989)</a> demonstrated that the MCP gene is on the same 1,250-kb NotI fragment that contains CR1, CR2, DAF, and C4BP and maps within 100 kb of the 3-prime end of the CR1 gene. The order of the genes appears to be that just indicated, with MCP preceding the other 4 genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3260937+2521358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#17" class="mim-tip-reference" title="Noris, M., Brioschi, S., Caprioli, J., Todeschini, M., Bresin, E., Porrati, F., Gamba, S., Remuzzi, G. <strong>Familial haemolytic uraemic syndrome and an MCP mutation.</strong> Lancet 362: 1542-1547, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14615110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14615110</a>] [<a href="https://doi.org/10.1016/S0140-6736(03)14742-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14615110">Noris et al. (2003)</a> identified a heterozygous mutation (<a href="#0001">120920.0001</a>) in the MCP gene in 2 patients with a family history of atypical hemolytic uremic syndrome (AHUS2; <a href="/entry/612922">612922</a>). The mutation caused a change in 3 amino acids at position 233-235 and insertion of a premature stop codon, which resulted in loss of the transmembrane domain of the protein and severely reduced cell-surface expression of MCP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14615110" 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>Like factor H (CFH; <a href="/entry/134370">134370</a>), MCP inhibits complement activation by regulating C3b deposition on targets. <a href="#22" class="mim-tip-reference" title="Richards, A., Kemp, E. J., Liszewski, M. K., Goodship, J. A., Lampe, A. K., Decorte, R., Muslumanoglu, M. H., Kavukcu, S., Filler, G., Pirson, Y., Wen, L. S., Atkinson, J. P., Goodship, T. H. J. <strong>Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.</strong> Proc. Nat. Acad. Sci. 100: 12966-12971, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14566051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14566051</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14566051[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2135497100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14566051">Richards et al. (2003)</a> hypothesized that MCP mutations could predispose to aHUS, and they sequenced MCP coding exons in affected members from 30 affected families. They identified mutations in the MCP gene in affected members from 3 of these families: a heterozygous 6-bp deletion in one family (<a href="#0002">120920.0002</a>) and a ser206-to-pro mutation (S206P; <a href="#0003">120920.0003</a>), which was heterozygous in one family and homozygous in another. An individual with the 6-bp deletion had reduced MCP levels and approximately 50% C3b binding compared with normal controls. Individuals with the S206P mutation expressed normal quantities of protein, but demonstrated approximately 50% reduction in C3b binding in heterozygotes and complete lack of C3b binding in homozygotes. Studies in transfectants showed that the deletion mutant was retained intracellularly. S206P protein was expressed on the cell surface but had a reduced ability to prevent complement activation, consistent with its reduced C3b binding and cofactor activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14566051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Esparza-Gordillo, J., Goicoechea de Jorge, E., Buil, A., Berges, L. C., Lopez-Trascasa, M., Sanchez-Corral, P., Rodriguez de Cordoba, S. <strong>Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.</strong> Hum. Molec. Genet. 14: 703-712, 2005. Note: Erratum: Hum. Molec. Genet. 14: 1107 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15661753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15661753</a>] [<a href="https://doi.org/10.1093/hmg/ddi066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15661753">Esparza-Gordillo et al. (2005)</a> identified a specific SNP haplotype in the MCP gene, which was overrepresented in aHUS patients and strongly associated with the severity of the disease. Linkage disequilibrium analysis suggested that the haplotype included the CR1 (<a href="/entry/120620">120620</a>), DAF (CD55; <a href="/entry/125240">125240</a>), and C4BPA (<a href="/entry/120830">120830</a>) genes. Two SNPs in the haplotype influenced the transcription activity of the MCP promoter in transient transfection experiments. The SNP haplotype block was particularly frequent among patients who carried mutations in HF1 (CFH; <a href="/entry/134370">134370</a>), MCP, or FI (CFI; <a href="/entry/217030">217030</a>). <a href="#6" class="mim-tip-reference" title="Esparza-Gordillo, J., Goicoechea de Jorge, E., Buil, A., Berges, L. C., Lopez-Trascasa, M., Sanchez-Corral, P., Rodriguez de Cordoba, S. <strong>Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.</strong> Hum. Molec. Genet. 14: 703-712, 2005. Note: Erratum: Hum. Molec. Genet. 14: 1107 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15661753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15661753</a>] [<a href="https://doi.org/10.1093/hmg/ddi066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15661753">Esparza-Gordillo et al. (2005)</a> suggested that complement regulatory molecules may act as a protein network, and that multiple mutations involving plasma- and membrane-associated complement regulatory proteins are necessary to impair protection of host tissues and to confer significant predisposition to aHUS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15661753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Fremeaux-Bacchi, V., Kemp, E. J., Goodship, J. A., Dragon-Durey, M.-A., Strain, L., Loirat, C., Deng, H.-W., Goodship, T. H. J. <strong>The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts.</strong> J. Med. Genet. 42: 852-856, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15784724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15784724</a>] [<a href="https://doi.org/10.1136/jmg.2005.030783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15784724">Fremeaux-Bacchi et al. (2005)</a> examined single-nucleotide polymorphisms (SNPs) in both the CFH and the MCP genes in 2 large cohorts of HUS. In both cohorts there was an association with HUS for both CFH and MCP alleles. Furthermore, CFH and MCP haplotypes were significantly different in HUS patients compared with controls. The results suggested that there are naturally occurring susceptibility factors in CFH and MCP for the development of atypical HUS. A characteristic feature of both MCP- and CFH-associated HUS is reduced penetrance and variable inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15784724" 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="Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., Porrati, F., Bucchioni, S., Monteferrante, F., Fang, C. J., Liszewski, M. K., Kavanagh, D., Atkinson, J. P., Remuzzi, G. <strong>Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.</strong> Blood 108: 1267-1279, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16621965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16621965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16621965[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2005-10-007252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16621965">Caprioli et al. (2006)</a> identified 14 mutations in the MCP gene (see, e.g., <a href="#0004">120920.0004</a>-<a href="#0006">120920.0006</a>) in 20 (12.8%) of 156 patients with atypical HUS. Three patients from 1 family were compound heterozygotes, 2 patients from 1 family carried a homozygous mutation, and the others were heterozygotes. In addition, the 3 patients from 1 family also carried a mutation in the CFH gene. Most (93%) MCP mutations clustered in the 4 SCRs at the N-terminal region of MCP, indicating the importance of this region for complement regulation. The mutations resulted in either reduced protein expression or impaired C3b binding capability. Analyses of available relatives revealed a penetrance of 54%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16621965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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<a href="#7" class="mim-tip-reference" title="Feenstra, B., Pasternak, B., Geller, F., Carstensen, L., Wang, T., Huang, F., Eitson, J. L., Hollegaard, M. V., Svanstrom, H., Vestergaard, M., Hougaard, D. M., Schoggins, J. W., Jan, L. Y., Melbye, M., Hviid, A. <strong>Common variants associated with general and MMR vaccine-related febrile seizures.</strong> Nature Genet. 46: 1274-1282, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25344690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25344690</a>] [<a href="https://doi.org/10.1038/ng.3129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25344690">Feenstra et al. (2014)</a> conducted a series of genomewide association scans comparing children with MMR-related febrile seizures, children with febrile seizures unrelated to vaccination, and controls with no history of febrile seizures. The study was restricted to individuals of Danish descent. Two loci were distinctly associated with MMR-related febrile seizures. The most associated SNP at the first locus, on chromosome 1p31.1, was <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs273259;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs273259</a> in the interferon-stimulated gene IFI44L (<a href="/entry/613975">613975</a>) (OR = 1.41, 95% CI 1.28-1.55, p = 5.9 x 10(-12) versus controls; OR = 1.42, 95% CI 1.27-1.59, p = 1.2 x 10(-9) versus MMR-unrelated febrile seizures). The most significant SNP at the second locus, on chromosome 1q32.2, was <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1318653;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1318653</a>, located between CD46 and CD34 (<a href="/entry/142230">142230</a>) (OR = 1.43, 95% CI 1.28-1.59, p = 9.6 x 10(-11) versus controls; OR = 1.48, 95% CI 1.30-1.67, p = 1.6 x 10(-9) versus MMR-unrelated febrile seizures). <a href="#7" class="mim-tip-reference" title="Feenstra, B., Pasternak, B., Geller, F., Carstensen, L., Wang, T., Huang, F., Eitson, J. L., Hollegaard, M. V., Svanstrom, H., Vestergaard, M., Hougaard, D. M., Schoggins, J. W., Jan, L. Y., Melbye, M., Hviid, A. <strong>Common variants associated with general and MMR vaccine-related febrile seizures.</strong> Nature Genet. 46: 1274-1282, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25344690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25344690</a>] [<a href="https://doi.org/10.1038/ng.3129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25344690">Feenstra et al. (2014)</a> considered their findings implicating the innate immune system genes IFI44L and CD46 to represent a first step in understanding the biological mechanisms underlying febrile seizures as an adverse effect of MMR vaccination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25344690" 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="#15" class="mim-tip-reference" title="Marie, J. C., Astier, A. L., Rivailler, P., Rabourdin-Combe, C., Wild, T. F., Horvat, B. <strong>Linking innate and acquired immunity: divergent role of CD46 cytoplasmic domains in T cell-induced inflammation.</strong> Nature Immun. 3: 659-666, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12055630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12055630</a>] [<a href="https://doi.org/10.1038/ni810" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12055630">Marie et al. (2002)</a> studied mice transgenic for human CD46 isoforms differing in their STP regions and in the length of their cytoplasmic domains. Mice expressing the 16-amino acid cytoplasmic tail variant, dubbed CD46-1, inhibited the T cell-mediated contact hypersensitivity reaction, whereas those expression the 23-residue cytoplasmic tail variant, termed CD46-2, increased it. CD46 stimulation or costimulation resulted in decreased cytotoxic activity and IL2 production, but increased proliferation and IL10 production, in CD46-1 transgenic mice. The effects were reversed in CD46-2 mice. <a href="#15" class="mim-tip-reference" title="Marie, J. C., Astier, A. L., Rivailler, P., Rabourdin-Combe, C., Wild, T. F., Horvat, B. <strong>Linking innate and acquired immunity: divergent role of CD46 cytoplasmic domains in T cell-induced inflammation.</strong> Nature Immun. 3: 659-666, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12055630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12055630</a>] [<a href="https://doi.org/10.1038/ni810" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12055630">Marie et al. (2002)</a> proposed that CD46 plays a role in the regulation of the T cell-induced inflammatory reaction and in fine-tuning the cellular immune response by bridging innate and acquired immunity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12055630" 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">rs1558056827 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1558056827;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1558056827" 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=rs1558056827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 sibs with diarrhea-negative atypical hemolytic uremic syndrome (AHUS2; <a href="/entry/612922">612922</a>), <a href="#17" class="mim-tip-reference" title="Noris, M., Brioschi, S., Caprioli, J., Todeschini, M., Bresin, E., Porrati, F., Gamba, S., Remuzzi, G. <strong>Familial haemolytic uraemic syndrome and an MCP mutation.</strong> Lancet 362: 1542-1547, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14615110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14615110</a>] [<a href="https://doi.org/10.1016/S0140-6736(03)14742-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14615110">Noris et al. (2003)</a> identified a heterozygous mutation in the MCP gene involving deletion of nucleotides 843A and 844C. The 2-bp deletion caused a change in 3 amino acids at positions 233-235 and insertion of a premature stop codon at position 236, which resulted in loss of the C terminus of the protein. The mutation was inherited from the father, who was asymptomatic. The mutation was not found in 100 healthy controls. The proband and her brother were heterozygous for the 1160G-A polymorphism in FHR5 and were homozygous for the C variant of the polymorphism 5507C-G in CR1, associated with an expression allele (H), as described by <a href="#27" class="mim-tip-reference" title="Xiang, L., Rundles, J. R., Hamilton, D. R., Wilson, J. G. <strong>Quantitative alleles of CRI: coding sequence analysis and comparison of haplotypes in two ethnic groups.</strong> J. Immun. 163: 4939-4945, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528197</a>]" pmid="10528197">Xiang et al. (1999)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10528197+14615110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 Belgian brothers with atypical hemolytic uremic syndrome (AHUS2; <a href="/entry/612922">612922</a>) previously described by <a href="#19" class="mim-tip-reference" title="Pirson, Y., Lefebvre, C., Arnout, C., van Ypersele de Strihou, C. <strong>Hemolytic uremic syndrome in three adult siblings: a familial study and evolution.</strong> Clin. Nephrol. 28: 250-255, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3480783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3480783</a>]" pmid="3480783">Pirson et al. (1987)</a> and <a href="#26" class="mim-tip-reference" title="Warwicker, P., Goodship, T. H. J., Donne, R. L., Pirson, Y., Nicholls, A., Ward, R. M., Turnpenny, P., Goodship, J. A. <strong>Genetic studies into inherited and sporadic hemolytic uremic syndrome.</strong> Kidney Int. 53: 836-844, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9551389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9551389</a>] [<a href="https://doi.org/10.1111/j.1523-1755.1998.00824.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9551389">Warwicker et al. (1998)</a>, <a href="#22" class="mim-tip-reference" title="Richards, A., Kemp, E. J., Liszewski, M. K., Goodship, J. A., Lampe, A. K., Decorte, R., Muslumanoglu, M. H., Kavukcu, S., Filler, G., Pirson, Y., Wen, L. S., Atkinson, J. P., Goodship, T. H. J. <strong>Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.</strong> Proc. Nat. Acad. Sci. 100: 12966-12971, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14566051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14566051</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14566051[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2135497100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14566051">Richards et al. (2003)</a> identified a heterozygous 6-bp deletion in the MCP gene, resulting in loss of amino acids 237 and 238. The 3 brothers were affected at the ages of 27, 31, and 35 years. The clinical features were similar in all 3. In particular, C3 levels at presentation were normal and there was no recovery of renal function. Subsequently, all 3 received a cadaver renal transplant with no recurrence of the disease. Since the original report, one of the brothers died from hepatic failure with portal hypertension of unknown etiology and one developed Waldenstrom macroglobulinemia. The mother did not carry the mutation. The father had died of pancreatic carcinoma at the age of 65 years. All 3 brothers shared a haplotype inherited from the father, an approximately 32-Mb region containing the MCP gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9551389+3480783+14566051" 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> rs121909589 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909589;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/rs121909589?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=rs121909589" 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=rs121909589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 German brothers with atypical hemolytic uremic syndrome (AHUS2; <a href="/entry/612922">612922</a>), <a href="#22" class="mim-tip-reference" title="Richards, A., Kemp, E. J., Liszewski, M. K., Goodship, J. A., Lampe, A. K., Decorte, R., Muslumanoglu, M. H., Kavukcu, S., Filler, G., Pirson, Y., Wen, L. S., Atkinson, J. P., Goodship, T. H. J. <strong>Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.</strong> Proc. Nat. Acad. Sci. 100: 12966-12971, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14566051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14566051</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14566051[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2135497100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14566051">Richards et al. (2003)</a> identified a heterozygous 822T-C transition in the MCP gene, resulting in a ser206-to-pro (S206P) substitution. The mutation was inherited from the unaffected mother. The older brother presented at the age of 8 years with a short history of vomiting and findings on blood smears consistent with microangiopathic hemolytic anemia. Renal function recovered spontaneously. The younger brother presented at the age of 15 years with a 2-day history of vomiting. On admission, platelet count was greatly reduced and there was microangiopathic hemolytic anemia. Hemodialysis was initiated and the child was also treated with plasma infusions and plasma exchange. After 14 days, renal function returned and the boy made a complete recovery. Neither parent reported a history of a similar syndrome. <a href="#22" class="mim-tip-reference" title="Richards, A., Kemp, E. J., Liszewski, M. K., Goodship, J. A., Lampe, A. K., Decorte, R., Muslumanoglu, M. H., Kavukcu, S., Filler, G., Pirson, Y., Wen, L. S., Atkinson, J. P., Goodship, T. H. J. <strong>Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.</strong> Proc. Nat. Acad. Sci. 100: 12966-12971, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14566051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14566051</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14566051[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2135497100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14566051">Richards et al. (2003)</a> also described a family from the Izmir region of Turkey in which 2 affected sibs were homozygous for the S206P mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14566051" 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">rs1441937053 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1441937053;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1441937053" 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=rs1441937053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 sibs of Sardinian origin who developed atypical hemolytic uremic syndrome (AHUS2; <a href="/entry/612922">612922</a>) before age 4 years, <a href="#3" class="mim-tip-reference" title="Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., Porrati, F., Bucchioni, S., Monteferrante, F., Fang, C. J., Liszewski, M. K., Kavanagh, D., Atkinson, J. P., Remuzzi, G. <strong>Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.</strong> Blood 108: 1267-1279, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16621965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16621965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16621965[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2005-10-007252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16621965">Caprioli et al. (2006)</a> identified a homozygous G-to-C transversion in intron 1 of the MCP gene, resulting in premature termination. Flow cytometry showed severely reduced MCP protein expression on peripheral blood cells. Their father, who developed the disorder as an adult, was heterozygous for the mutation. Four additional unaffected family members, including the mother, were also heterozygous for the mutation, indicating reduced penetrance for development of the disorder. The mutation was identified in heterozygosity in another unrelated Sardinian patient with the disorder. Haplotype analysis indicated a founder effect. The mutation was not found in 120 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16621965" 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> rs121909590 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909590;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/rs121909590?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=rs121909590" 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=rs121909590" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018576 OR RCV001508038" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018576, RCV001508038" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018576...</a>
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<p>In 3 members of a family with atypical hemolytic uremic syndrome (AHUS2; <a href="/entry/612922">612922</a>), <a href="#3" class="mim-tip-reference" title="Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., Porrati, F., Bucchioni, S., Monteferrante, F., Fang, C. J., Liszewski, M. K., Kavanagh, D., Atkinson, J. P., Remuzzi, G. <strong>Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.</strong> Blood 108: 1267-1279, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16621965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16621965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16621965[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2005-10-007252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16621965">Caprioli et al. (2006)</a> identified compound heterozygosity for 2 mutations in the MCP gene: a 218C-T transition in exon 2 resulting in an arg25-to-ter (R25X) substitution, and C1Y (<a href="#0006">120920.0006</a>). The R25X mutation causes loss of the entire transmembrane domain so that the protein is not expressed on the surface of peripheral blood cells. These 3 family members also carried a mutation in the CFH gene (<a href="/entry/134370">134370</a>). <a href="#3" class="mim-tip-reference" title="Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., Porrati, F., Bucchioni, S., Monteferrante, F., Fang, C. J., Liszewski, M. K., Kavanagh, D., Atkinson, J. P., Remuzzi, G. <strong>Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.</strong> Blood 108: 1267-1279, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16621965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16621965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16621965[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2005-10-007252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16621965">Caprioli et al. (2006)</a> also found heterozygosity for the R25X mutation in 3 additional unrelated patients with sporadic aHUS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16621965" 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> rs121909591 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909591;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/rs121909591?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=rs121909591" 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=rs121909591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018577 OR RCV002513104 OR RCV004525857" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018577, RCV002513104, RCV004525857" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018577...</a>
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<p>In a patient with sporadic atypical hemolytic uremic syndrome (AHUS2; <a href="/entry/612922">612922</a>), <a href="#3" class="mim-tip-reference" title="Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., Porrati, F., Bucchioni, S., Monteferrante, F., Fang, C. J., Liszewski, M. K., Kavanagh, D., Atkinson, J. P., Remuzzi, G. <strong>Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.</strong> Blood 108: 1267-1279, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16621965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16621965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16621965[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2005-10-007252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16621965">Caprioli et al. (2006)</a> identified a heterozygous 147G-A transition in exon 2 of CD46, resulting in a cys1-to-tyr (C1Y; <a href="#0006">120920.0006</a>) substitution. Western blot analysis indicated that the C1Y mutant protein was not expressed on the cell surface. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16621965" 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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[<a href="https://doi.org/10.1182/blood-2005-10-007252" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.1086476" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.1462-5822.2001.00095.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1084/jem.168.1.181" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ni810" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.6648525" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/S0140-6736(03)14742-3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.0602458103" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1084/jem.174.1.93" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1953714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1953714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1953714" 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/s0006-291x(05)81178-7" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14566051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14566051</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14566051[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14566051" 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/10.1073/pnas.2135497100" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10619434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10619434</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10619434" 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/s0092-8674(00)81678-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.0508035103" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10972291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10972291</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10972291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/35022579" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1523-1755.1998.00824.x" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Ada Hamosh - updated : 03/19/2018
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Paul J. Converse - updated : 4/20/2011<br>Cassandra L. Kniffin - updated : 7/27/2009<br>George E. Tiller - updated : 2/5/2008<br>Paul J. Converse - updated : 5/2/2007<br>Anne M. Stumpf - updated : 8/8/2006<br>Ada Hamosh - updated : 8/8/2006<br>Victor A. McKusick - updated : 6/22/2006<br>Victor A. McKusick - updated : 7/16/2004<br>Victor A. McKusick - updated : 2/9/2004<br>Paul J. Converse - updated : 10/30/2003<br>Ada Hamosh - updated : 8/5/2003<br>Paul J. Converse - updated : 1/22/2003<br>Paul J. Converse - updated : 6/11/2002<br>Paul J. Converse - updated : 4/29/2002<br>Paul J. Converse - updated : 4/15/2002<br>Paul J. Converse - updated : 8/23/2000<br>Stylianos E. Antonarakis - updated : 1/19/2000
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Victor A. McKusick : 6/29/1988
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alopez : 03/19/2018<br>carol : 09/18/2013<br>ckniffin : 5/9/2012<br>carol : 4/30/2012<br>carol : 11/28/2011<br>carol : 4/20/2011<br>carol : 2/28/2011<br>mgross : 8/18/2009<br>carol : 7/30/2009<br>ckniffin : 7/27/2009<br>wwang : 2/13/2008<br>terry : 2/5/2008<br>mgross : 5/2/2007<br>ckniffin : 10/5/2006<br>alopez : 8/8/2006<br>alopez : 8/8/2006<br>joanna : 7/18/2006<br>alopez : 6/28/2006<br>terry : 6/22/2006<br>wwang : 8/2/2005<br>terry : 11/3/2004<br>tkritzer : 7/21/2004<br>terry : 7/16/2004<br>carol : 4/28/2004<br>tkritzer : 4/20/2004<br>mgross : 3/17/2004<br>cwells : 2/17/2004<br>terry : 2/9/2004<br>alopez : 11/7/2003<br>mgross : 10/30/2003<br>tkritzer : 10/7/2003<br>alopez : 8/7/2003<br>terry : 8/5/2003<br>mgross : 1/23/2003<br>mgross : 1/22/2003<br>alopez : 7/25/2002<br>mgross : 6/11/2002<br>mgross : 4/29/2002<br>mgross : 4/29/2002<br>mgross : 4/15/2002<br>mgross : 8/23/2000<br>mgross : 1/19/2000<br>alopez : 4/1/1999<br>carol : 11/2/1993<br>supermim : 3/16/1992<br>carol : 1/21/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>root : 3/13/1989
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<h3>
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<span class="mim-font">
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<strong>*</strong> 120920
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<h3>
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CD46 ANTIGEN; CD46
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</h3>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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TROPHOBLAST-LYMPHOCYTE CROSS-REACTIVE ANTIGEN; TLX<br />
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MEMBRANE COFACTOR PROTEIN; MCP<br />
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COMPLEMENT MEMBRANE COFACTOR PROTEIN<br />
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ANTIGEN DEFINED BY MONOCLONAL ANTIBODY TRA-2-10; MIC10
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CD46</em></strong>
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<strong>
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<em>
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Cytogenetic location: 1q32.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:207,752,038-207,795,516 </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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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<td rowspan="1">
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<span class="mim-font">
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1q32.2
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<td>
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<span class="mim-font">
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{Hemolytic uremic syndrome, atypical, susceptibility to, 2}
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</td>
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<td>
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<span class="mim-font">
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612922
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<td>
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<span class="mim-font">
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Autosomal dominant; Autosomal recessive
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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 class="mim-font">
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<strong>TEXT</strong>
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<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
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<p>MCP, a C3B/C4B-binding molecule of the complement system with cofactor activity for the I-dependent cleavage of C3B and C4B, is widely distributed in white blood cells, platelets, epithelial cells, and fibroblasts (Lublin et al., 1988). </p>
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<h4>
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<strong>Cloning and Expression</strong>
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</h4>
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<p>Lublin et al. (1988) purified MCP from a human T-cell line and determined the sequence of the N-terminal 24 amino acids. An oligonucleotide probe was used to identify a clone from a human monocyte cDNA library. The deduced full-length MCP consists of a 34-amino acid signal peptide and a 350-amino acid mature protein. The protein has, beginning at the N terminus, 4 cysteine-rich repeating units (short consensus repeats, or SCRs) of about 60 amino acids each that match the consensus sequence found in a multigene family of complement regulatory proteins: CR1 (120620), CR2 (120650), C4BP (120830), CFH (134370), and DAF (125240). Immediately C-terminal of the SCRs is a serine/threonine/proline (STP)-rich region, a likely area for extensive O-glycosylation. MCP also has a transmembrane domain, a basic amino acid anchor, and a cytoplasmic tail. </p><p>Purcell et al. (1991) and Post et al. (1991) identified 4 and 6 isoforms of MCP, respectively. Post et al. (1991) demonstrated that the 6 isoforms vary in having 1 of 2 cytoplasmic tails and by having either all 3 STP regions (termed A, B, and C) or only STP-BC or STP-C. They showed that the STP-C isoforms are expressed as 45- to 55-kD proteins, the STP-BC isoforms are expressed as 55- to 65-kD proteins, and the STP-ABC isoforms are expressed as 65- to 75-kD proteins. The 65- to 75-kD variants were not expressed on peripheral blood cells or cell lines. Post et al. (1991) concluded that the presence of the B region of the STP area, which is richer in O-linked sugars, determines the expression of the 2 broad protein species. They also noted that up to 4 different forms of MCP are expressed on a single cell. </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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<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>McIntyre et al. (1983) found that antisera to human syncytiotrophoblast microvillus cell surface membranes from different placentas are cytotoxic for lymphocytes from some persons but not others. Study of 10 antisera on lymphocytes from 30 donors suggested the presence of 3 distinct TLX groupings. McIntyre et al. (1983) proposed that TLX alloantigens are central in establishing maternal recognition and protection of the blastocyst, and that lack of recognition results in implantation failure and spontaneous abortion. </p><p>Dorig et al. (1993) used a genetic approach to identify the receptor for measles virus (MV). They tested human/rodent somatic cell hybrids for their ability to bind the Edmonston strain of MV and found that only cells containing human chromosome 1 were capable of binding virus. Rodent cells could not bind MV. A study of lymphocyte markers suggested that CD46 is the MV receptor. Dorig et al. (1993) showed that hamster cell lines expressing human CD46 could bind MV. Furthermore, infected CD46+ cells produced syncytia and viral proteins. Finally, polyclonal antisera against CD46 inhibited MV binding and infection. Dorig et al. (1993) concluded that CD46 is receptor for the Edmonston strain of MV. However, Tatsuo et al. (2000) noted that although the Edmonston strain of MV and the vaccine strains derived from it use CD46 as a cellular receptor, most clinical isolates do not. They showed that SLAM (603492), but not CD46, could act as a cellular receptor for clinical strains of MV. </p><p>Human herpesvirus-6 (HHV-6) is the etiologic agent of exanthema subitum, causes opportunistic infections in immunocompromised patients, and has been implicated in multiple sclerosis and in the progression of AIDS. Santoro et al. (1999) showed that the 2 major HHV-6 subgroups (A and B) use human CD46 as a cellular receptor. Downregulation of surface CD46 was documented during the course of HHV-6 infection. Both acute infection and cell fusion mediated by HHV-6 were specifically inhibited by a monoclonal antibody to CD46; fusion was also blocked by soluble CD46. Nonhuman cells that were resistant to HHV-6 fusion and entry became susceptible upon expression of recombinant human CD46. </p><p>CD46 acts as a cellular receptor for type IV pili of pathogenic Neisseria. The binding of piliated bacteria to host cells can be inhibited by antibody to CD46 or the recombinant molecule. Kallstrom et al. (2001) showed that the BC1 phenotype of the STP domain as well as the complement control protein repeat 3 (CCP3) of CD46 are important for efficient adherence of N. gonorrhoeae to host cells. </p><p>Kemper et al. (2003) examined the requirements for activation of T-regulatory-1 (Tr1) cells, which are defined as CD4 (186940)-positive T lymphocytes that secrete IL10 (124092) and suppress T-helper cells. Stimulation of purified CD4-positive T cells with monoclonal antibodies to CD3 (see 186740) and CD46 in the presence of IL2 (147680) or anti-CD28 (186760) induced the secretion of large amounts of IL10 and sustained proliferation, as measured by flow cytometric analysis for expression of PCNA (176740). CD45RA-positive/CD45RO-negative (naive) T cells and CD45RA-positive/CD45RO-positive (high-responding) T cells produced IL10 in response to these agonists, while CD45RA-negative/CD45RO-positive (memory) T cells did not. After primary anti-CD3/anti-CD46 activation, however, both naive and high-responding CD4-positive T cells acquired an IL10-producing memory phenotype (CD45RA-negative/CD45RO-positive). Stimulation of CD4-positive T cells with anti-CD3/anti-CD28 without anti-CD46 failed to induce IL10 production and caused the production of large amounts of IL2. Stimulation with anti-CD3/anti-CD28 in the presence of complement factor C3b (120700) dimers resulted in IL10 secretion comparable to that of anti-CD3/anti-CD28/anti-CD46-activated T cells. Supernatants of the anti-CD3/anti-CD46-activated T cells induced IL10-mediated suppression of proliferation by bystander T cells. Kemper et al. (2003) concluded that CD46 has a role in human T-cell regulation and that these findings establish a link between the complement system and adaptive immunity. They proposed that Tr1 cells are essential for maintaining peripheral tolerance and preventing autoimmunity, as well as for responses to many pathogens. </p><p>Kallstrom et al. (1997) identified CD46 as a human cell surface receptor for piliated pathogenic Neisseria. Johansson et al. (2003) generated transgenic mice expressing human CD46 and found they were susceptible to meningococcal disease because bacteria crossed the blood-brain barrier in these mice. Development of disease was more efficient with piliated bacteria after intranasal but not intraperitoneal challenge of Cd46 transgenic mice, suggesting that human CD46 facilitates pilus-dependent interactions at the epithelial mucosa. </p><p>Gaggar et al. (2003) showed that, unlike most adenoviruses, group B adenoviruses use CD46 rather than CAR (CXADR; 602621) to infect cells. Mass spectrometric, immunoblot, and fluorescence microscopy analyses determined that the group B fiber knob domain interacts with CD46. The authors found that, with the exception of Ad3, viruses of the B1 respiratory and B2 kidney and urinary tract subgroups both use the CD46 receptor. Expression of human CD46 rendered nonhuman cells susceptible to group B adenovirus infection in vitro and in vivo, and infection could be blocked by CD46 siRNA or soluble CD46 protein. Gaggar et al. (2003) concluded that CD46 is an essential receptor for group B adenoviruses and that this knowledge may facilitate the development of novel methods for adenovirus-mediated gene transfer. </p><p>The placenta is an immunologically privileged site. Using DNA microarrays to compare gene expression patterns, Sood et al. (2006) found that 3 regulators of complement, CD55 (125240), CD59 (107271), and MCP, are expressed at higher levels in normal placental villus sections compared with other normal human tissues. Within the placenta, CD55 and CD59 are expressed at greatest levels in amnion, followed by chorion and villus sections, whereas MCP is expressed at higher levels only in villus sections. These inhibitors of complement are expressed on syncytiotrophoblasts, the specialized placental cells lining the villi that are in direct contact with maternal blood. The amnion compared with chorion is remarkably nonimmunogenic, and the immune properties of the amnion are intriguing because it is not in direct contact with maternal cells. Sood et al. (2006) suggested that the amnion may secrete the complement inhibitors themselves or in the form of protected exosomes into the amniotic fluid or the neighboring maternofetal junction. </p><p>Using confocal microscopy, Oliaro et al. (2006) demonstrated that treatment of T or natural killer (NK) cytotoxic lymphocytes with anti-CD46 beads, but not anti-transferrin receptor (TFRC; 190010) beads, resulted in recruitment of the microtubule-organizing center (MTOC) and perforin (PRF1; 170280) to the site of CD46 ligation, indicating cell polarization. Ligation with soluble anti-CD46 altered T-cell polarization, inhibiting IFNG (147570) production. CD46 ligation also prevented normal polarization of T cells towards antigen-presenting cells (APCs) and prevented immune synapse formation, but it did not affect interaction of NK cells with target cells. Cells expressing measles hemagglutinin ligated CD46 on T cells and recruited the MTOC and CD3 to the site. These T cells only produced IFNG with the addition of anti-CD3/CD28. Oliaro et al. (2006) concluded that external signals can alter lymphocyte polarization toward APC or target cells and inhibit lymphocyte function. </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>By genomic sequence analysis, Post et al. (1991) determined that the MCP gene contains 14 exons and spans 43 kb. Exons 7, 8, and 9 encode the A, B, and C regions of the STP area, respectively. Exon 13 encodes a 16-residue cytoplasmic tail, whereas use of exon 14 results in a 23-amino acid tail. </p><p>Cui et al. (1993) analyzed the promoter region of the CD46 gene. They detected a GC-rich region as well as a CAAT box in reverse orientation surrounded by 4 putative SP1-binding sites, but no TATA element, suggesting that CD46 is a housekeeping gene. Reporter assays determined that promoter activity is confined to the GC-rich region. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Andrews et al. (1985) studied an antigen expressed by most human cells, but not erythrocytes, and defined by monoclonal antibody TRA-2-10. The antigen was expressed on the surface of human-mouse somatic cell hybrids; segregation analysis showed that the antigen is determined by a gene (MCP1) on human chromosome 1. </p><p>Lublin et al. (1988) localized the MCP gene to 1q31-q41 by Southern analysis of human-rodent somatic cell hybrid DNA and by in situ hybridization. This was the sixth member of this multigene family that had been assigned to this region of the genome. Bora et al. (1989) demonstrated that the MCP gene is on the same 1,250-kb NotI fragment that contains CR1, CR2, DAF, and C4BP and maps within 100 kb of the 3-prime end of the CR1 gene. The order of the genes appears to be that just indicated, with MCP preceding the other 4 genes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Atypical Hemolytic Uremic Syndrome, Susceptibility to, 2</em></strong></p><p>
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Noris et al. (2003) identified a heterozygous mutation (120920.0001) in the MCP gene in 2 patients with a family history of atypical hemolytic uremic syndrome (AHUS2; 612922). The mutation caused a change in 3 amino acids at position 233-235 and insertion of a premature stop codon, which resulted in loss of the transmembrane domain of the protein and severely reduced cell-surface expression of MCP. </p><p>Like factor H (CFH; 134370), MCP inhibits complement activation by regulating C3b deposition on targets. Richards et al. (2003) hypothesized that MCP mutations could predispose to aHUS, and they sequenced MCP coding exons in affected members from 30 affected families. They identified mutations in the MCP gene in affected members from 3 of these families: a heterozygous 6-bp deletion in one family (120920.0002) and a ser206-to-pro mutation (S206P; 120920.0003), which was heterozygous in one family and homozygous in another. An individual with the 6-bp deletion had reduced MCP levels and approximately 50% C3b binding compared with normal controls. Individuals with the S206P mutation expressed normal quantities of protein, but demonstrated approximately 50% reduction in C3b binding in heterozygotes and complete lack of C3b binding in homozygotes. Studies in transfectants showed that the deletion mutant was retained intracellularly. S206P protein was expressed on the cell surface but had a reduced ability to prevent complement activation, consistent with its reduced C3b binding and cofactor activity. </p><p>Esparza-Gordillo et al. (2005) identified a specific SNP haplotype in the MCP gene, which was overrepresented in aHUS patients and strongly associated with the severity of the disease. Linkage disequilibrium analysis suggested that the haplotype included the CR1 (120620), DAF (CD55; 125240), and C4BPA (120830) genes. Two SNPs in the haplotype influenced the transcription activity of the MCP promoter in transient transfection experiments. The SNP haplotype block was particularly frequent among patients who carried mutations in HF1 (CFH; 134370), MCP, or FI (CFI; 217030). Esparza-Gordillo et al. (2005) suggested that complement regulatory molecules may act as a protein network, and that multiple mutations involving plasma- and membrane-associated complement regulatory proteins are necessary to impair protection of host tissues and to confer significant predisposition to aHUS. </p><p>Fremeaux-Bacchi et al. (2005) examined single-nucleotide polymorphisms (SNPs) in both the CFH and the MCP genes in 2 large cohorts of HUS. In both cohorts there was an association with HUS for both CFH and MCP alleles. Furthermore, CFH and MCP haplotypes were significantly different in HUS patients compared with controls. The results suggested that there are naturally occurring susceptibility factors in CFH and MCP for the development of atypical HUS. A characteristic feature of both MCP- and CFH-associated HUS is reduced penetrance and variable inheritance. </p><p>Caprioli et al. (2006) identified 14 mutations in the MCP gene (see, e.g., 120920.0004-120920.0006) in 20 (12.8%) of 156 patients with atypical HUS. Three patients from 1 family were compound heterozygotes, 2 patients from 1 family carried a homozygous mutation, and the others were heterozygotes. In addition, the 3 patients from 1 family also carried a mutation in the CFH gene. Most (93%) MCP mutations clustered in the 4 SCRs at the N-terminal region of MCP, indicating the importance of this region for complement regulation. The mutations resulted in either reduced protein expression or impaired C3b binding capability. Analyses of available relatives revealed a penetrance of 54%. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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Feenstra et al. (2014) conducted a series of genomewide association scans comparing children with MMR-related febrile seizures, children with febrile seizures unrelated to vaccination, and controls with no history of febrile seizures. The study was restricted to individuals of Danish descent. Two loci were distinctly associated with MMR-related febrile seizures. The most associated SNP at the first locus, on chromosome 1p31.1, was rs273259 in the interferon-stimulated gene IFI44L (613975) (OR = 1.41, 95% CI 1.28-1.55, p = 5.9 x 10(-12) versus controls; OR = 1.42, 95% CI 1.27-1.59, p = 1.2 x 10(-9) versus MMR-unrelated febrile seizures). The most significant SNP at the second locus, on chromosome 1q32.2, was rs1318653, located between CD46 and CD34 (142230) (OR = 1.43, 95% CI 1.28-1.59, p = 9.6 x 10(-11) versus controls; OR = 1.48, 95% CI 1.30-1.67, p = 1.6 x 10(-9) versus MMR-unrelated febrile seizures). Feenstra et al. (2014) considered their findings implicating the innate immune system genes IFI44L and CD46 to represent a first step in understanding the biological mechanisms underlying febrile seizures as an adverse effect of MMR vaccination. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Marie et al. (2002) studied mice transgenic for human CD46 isoforms differing in their STP regions and in the length of their cytoplasmic domains. Mice expressing the 16-amino acid cytoplasmic tail variant, dubbed CD46-1, inhibited the T cell-mediated contact hypersensitivity reaction, whereas those expression the 23-residue cytoplasmic tail variant, termed CD46-2, increased it. CD46 stimulation or costimulation resulted in decreased cytotoxic activity and IL2 production, but increased proliferation and IL10 production, in CD46-1 transgenic mice. The effects were reversed in CD46-2 mice. Marie et al. (2002) proposed that CD46 plays a role in the regulation of the T cell-induced inflammatory reaction and in fine-tuning the cellular immune response by bridging innate and acquired immunity. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0001 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CD46, 2-BP DEL, 843AC
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<br />
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SNP: rs1558056827,
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ClinVar: RCV000018572
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sibs with diarrhea-negative atypical hemolytic uremic syndrome (AHUS2; 612922), Noris et al. (2003) identified a heterozygous mutation in the MCP gene involving deletion of nucleotides 843A and 844C. The 2-bp deletion caused a change in 3 amino acids at positions 233-235 and insertion of a premature stop codon at position 236, which resulted in loss of the C terminus of the protein. The mutation was inherited from the father, who was asymptomatic. The mutation was not found in 100 healthy controls. The proband and her brother were heterozygous for the 1160G-A polymorphism in FHR5 and were homozygous for the C variant of the polymorphism 5507C-G in CR1, associated with an expression allele (H), as described by Xiang et al. (1999). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CD46, 6-BP DEL
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<br />
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SNP: rs1255421232,
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gnomAD: rs1255421232,
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ClinVar: RCV000018573
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In 3 Belgian brothers with atypical hemolytic uremic syndrome (AHUS2; 612922) previously described by Pirson et al. (1987) and Warwicker et al. (1998), Richards et al. (2003) identified a heterozygous 6-bp deletion in the MCP gene, resulting in loss of amino acids 237 and 238. The 3 brothers were affected at the ages of 27, 31, and 35 years. The clinical features were similar in all 3. In particular, C3 levels at presentation were normal and there was no recovery of renal function. Subsequently, all 3 received a cadaver renal transplant with no recurrence of the disease. Since the original report, one of the brothers died from hepatic failure with portal hypertension of unknown etiology and one developed Waldenstrom macroglobulinemia. The mother did not carry the mutation. The father had died of pancreatic carcinoma at the age of 65 years. All 3 brothers shared a haplotype inherited from the father, an approximately 32-Mb region containing the MCP gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CD46, SER206PRO
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<br />
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SNP: rs121909589,
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gnomAD: rs121909589,
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|
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ClinVar: RCV000018574, RCV002514110
|
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</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 2 German brothers with atypical hemolytic uremic syndrome (AHUS2; 612922), Richards et al. (2003) identified a heterozygous 822T-C transition in the MCP gene, resulting in a ser206-to-pro (S206P) substitution. The mutation was inherited from the unaffected mother. The older brother presented at the age of 8 years with a short history of vomiting and findings on blood smears consistent with microangiopathic hemolytic anemia. Renal function recovered spontaneously. The younger brother presented at the age of 15 years with a 2-day history of vomiting. On admission, platelet count was greatly reduced and there was microangiopathic hemolytic anemia. Hemodialysis was initiated and the child was also treated with plasma infusions and plasma exchange. After 14 days, renal function returned and the boy made a complete recovery. Neither parent reported a history of a similar syndrome. Richards et al. (2003) also described a family from the Izmir region of Turkey in which 2 affected sibs were homozygous for the S206P mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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CD46, IVS1AS, G-C, -1
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<br />
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|
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SNP: rs1441937053,
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|
|
ClinVar: RCV000018575
|
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|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs of Sardinian origin who developed atypical hemolytic uremic syndrome (AHUS2; 612922) before age 4 years, Caprioli et al. (2006) identified a homozygous G-to-C transversion in intron 1 of the MCP gene, resulting in premature termination. Flow cytometry showed severely reduced MCP protein expression on peripheral blood cells. Their father, who developed the disorder as an adult, was heterozygous for the mutation. Four additional unaffected family members, including the mother, were also heterozygous for the mutation, indicating reduced penetrance for development of the disorder. The mutation was identified in heterozygosity in another unrelated Sardinian patient with the disorder. Haplotype analysis indicated a founder effect. The mutation was not found in 120 controls. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CD46, ARG25TER
|
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|
|
|
<br />
|
|
|
|
SNP: rs121909590,
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|
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|
|
|
gnomAD: rs121909590,
|
|
|
|
|
|
ClinVar: RCV000018576, RCV001508038
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 members of a family with atypical hemolytic uremic syndrome (AHUS2; 612922), Caprioli et al. (2006) identified compound heterozygosity for 2 mutations in the MCP gene: a 218C-T transition in exon 2 resulting in an arg25-to-ter (R25X) substitution, and C1Y (120920.0006). The R25X mutation causes loss of the entire transmembrane domain so that the protein is not expressed on the surface of peripheral blood cells. These 3 family members also carried a mutation in the CFH gene (134370). Caprioli et al. (2006) also found heterozygosity for the R25X mutation in 3 additional unrelated patients with sporadic aHUS. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CD46, CYS1TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909591,
|
|
|
|
|
|
gnomAD: rs121909591,
|
|
|
|
|
|
ClinVar: RCV000018577, RCV002513104, RCV004525857
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with sporadic atypical hemolytic uremic syndrome (AHUS2; 612922), Caprioli et al. (2006) identified a heterozygous 147G-A transition in exon 2 of CD46, resulting in a cys1-to-tyr (C1Y; 120920.0006) substitution. Western blot analysis indicated that the C1Y mutant protein was not expressed on the cell surface. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
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|
|
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|
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|
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|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Andrews, P. W., Knowles, B. B., Parkar, M., Pym, B., Stanley, K., Goodfellow, P. N.
|
|
<strong>A human cell-surface antigen defined by a monoclonal antibody and controlled by a gene on human chromosome 1.</strong>
|
|
Ann. Hum. Genet. 49: 31-39, 1985.
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[PubMed: 2416262]
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[Full Text: https://doi.org/10.1111/j.1469-1809.1985.tb01673.x]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bora, N. S., Lublin, D. M., Kumar, B. V., Hockett, R. D., Holers, V. M., Atkinson, J. P.
|
|
<strong>Structural gene for human membrane cofactor protein (MCP) of complement maps to within 100 kb of the 3-prime end of the C3b/C4b receptor gene.</strong>
|
|
J. Exp. Med. 169: 597-602, 1989.
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[PubMed: 2521358]
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[Full Text: https://doi.org/10.1084/jem.169.2.597]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., Porrati, F., Bucchioni, S., Monteferrante, F., Fang, C. J., Liszewski, M. K., Kavanagh, D., Atkinson, J. P., Remuzzi, G.
|
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<strong>Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.</strong>
|
|
Blood 108: 1267-1279, 2006.
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[PubMed: 16621965]
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[Full Text: https://doi.org/10.1182/blood-2005-10-007252]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Cui, W., Hourcade, D., Post, T., Greenlund, A. C., Atkinson, J. P., Kumar, V.
|
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<strong>Characterization of the promoter region of the membrane cofactor protein (CD46) gene of the human complement system and comparison to a membrane cofactor protein-like genetic element.</strong>
|
|
J. Immun. 151: 4137-4146, 1993.
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[PubMed: 7691939]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Dorig, R. E., Marcil, A., Chopra, A., Richardson, C. D.
|
|
<strong>The human CD46 molecule is a receptor for measles virus (Edmonston strain).</strong>
|
|
Cell 75: 295-305, 1993.
|
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|
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[PubMed: 8402913]
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[Full Text: https://doi.org/10.1016/0092-8674(93)80071-l]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Esparza-Gordillo, J., Goicoechea de Jorge, E., Buil, A., Berges, L. C., Lopez-Trascasa, M., Sanchez-Corral, P., Rodriguez de Cordoba, S.
|
|
<strong>Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.</strong>
|
|
Hum. Molec. Genet. 14: 703-712, 2005. Note: Erratum: Hum. Molec. Genet. 14: 1107 only, 2005.
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[PubMed: 15661753]
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[Full Text: https://doi.org/10.1093/hmg/ddi066]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Feenstra, B., Pasternak, B., Geller, F., Carstensen, L., Wang, T., Huang, F., Eitson, J. L., Hollegaard, M. V., Svanstrom, H., Vestergaard, M., Hougaard, D. M., Schoggins, J. W., Jan, L. Y., Melbye, M., Hviid, A.
|
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<strong>Common variants associated with general and MMR vaccine-related febrile seizures.</strong>
|
|
Nature Genet. 46: 1274-1282, 2014.
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|
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[PubMed: 25344690]
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[Full Text: https://doi.org/10.1038/ng.3129]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Fremeaux-Bacchi, V., Kemp, E. J., Goodship, J. A., Dragon-Durey, M.-A., Strain, L., Loirat, C., Deng, H.-W., Goodship, T. H. J.
|
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<strong>The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts.</strong>
|
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J. Med. Genet. 42: 852-856, 2005.
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[PubMed: 15784724]
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[Full Text: https://doi.org/10.1136/jmg.2005.030783]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gaggar, A., Shayakhmetov, D. M., Lieber, A.
|
|
<strong>CD46 is a cellular receptor for group B adenoviruses.</strong>
|
|
Nature Med. 9: 1408-1412, 2003.
|
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|
|
|
|
[PubMed: 14566335]
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[Full Text: https://doi.org/10.1038/nm952]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Johansson, L., Rytkonen, A., Bergman, P., Albiger, B., Kallstrom, H., Hokfelt, T., Agerberth, B., Cattaneo, R., Jonsson, A.-B.
|
|
<strong>CD46 in meningococcal disease.</strong>
|
|
Science 301: 373-375, 2003.
|
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|
|
[PubMed: 12869763]
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|
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[Full Text: https://doi.org/10.1126/science.1086476]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kallstrom, H., Gill, D. B., Albiger, B., Liszewski, M. K., Atkinson, J. P., Jonsson, A.-B.
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<strong>Attachment of Neisseria gonorrhoeae to the cellular pilus receptor CD46: identification of domains important for bacterial adherence.</strong>
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Cell. Microbiol. 3: 133-143, 2001.
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[PubMed: 11260136]
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[Full Text: https://doi.org/10.1046/j.1462-5822.2001.00095.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kallstrom, H., Liszewski, M. K., Atkinson, J. P., Jonsson, A.-B.
|
|
<strong>Membrane cofactor protein (MCP or CD46) is a cellular pilus receptor for pathogenic Neisseria.</strong>
|
|
Molec. Microbiol. 25: 639-647, 1997.
|
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[PubMed: 9379894]
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[Full Text: https://doi.org/10.1046/j.1365-2958.1997.4841857.x]
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|
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kemper, C., Chan, A. C., Green, J. M., Brett, K. A., Murphy, K. M., Atkinson, J. P.
|
|
<strong>Activation of human CD4+ cells with CD3 and CD46 induces a T-regulatory cell 1 phenotype.</strong>
|
|
Nature 421: 388-392, 2003.
|
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|
|
|
|
[PubMed: 12540904]
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|
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[Full Text: https://doi.org/10.1038/nature01315]
|
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|
|
</p>
|
|
</li>
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|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lublin, D. M., Liszewski, M. K., Post, T. W., Arce, M. A., LeBeau, M. M., Rebentisch, M. B., Lemons, R. S., Seya, T., Atkinson, J. P.
|
|
<strong>Molecular cloning and chromosomal localization of human complement membrane cofactor protein (MCP): evidence for inclusion in the multigene family of complement-regulatory proteins.</strong>
|
|
J. Exp. Med. 168: 181-194, 1988.
|
|
|
|
|
|
[PubMed: 3260937]
|
|
|
|
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Santoro, F., Kennedy, P. E., Locatelli, G., Malnati, M. S., Berger, E. A., Lusso, P.
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Tatsuo, H., Ono, N., Tanaka, K., Yanagi, Y.
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<strong>SLAM (CDw150) is a cellular receptor for measles virus.</strong>
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Xiang, L., Rundles, J. R., Hamilton, D. R., Wilson, J. G.
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Ada Hamosh - updated : 03/19/2018<br>Paul J. Converse - updated : 4/20/2011<br>Cassandra L. Kniffin - updated : 7/27/2009<br>George E. Tiller - updated : 2/5/2008<br>Paul J. Converse - updated : 5/2/2007<br>Anne M. Stumpf - updated : 8/8/2006<br>Ada Hamosh - updated : 8/8/2006<br>Victor A. McKusick - updated : 6/22/2006<br>Victor A. McKusick - updated : 7/16/2004<br>Victor A. McKusick - updated : 2/9/2004<br>Paul J. Converse - updated : 10/30/2003<br>Ada Hamosh - updated : 8/5/2003<br>Paul J. Converse - updated : 1/22/2003<br>Paul J. Converse - updated : 6/11/2002<br>Paul J. Converse - updated : 4/29/2002<br>Paul J. Converse - updated : 4/15/2002<br>Paul J. Converse - updated : 8/23/2000<br>Stylianos E. Antonarakis - updated : 1/19/2000
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