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Entry
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- *138470 - COMPLEMENT FACTOR B; CFB
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*138470</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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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="#nomenclature">Nomenclature</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/138470">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li 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=ENSG00000243649;t=ENST00000425368" 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=629" 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=138470" 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=ENSG00000243649;t=ENST00000425368" 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_001710" 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_001710" 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=138470" 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=00718&isoform_id=00718_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/CFB" 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/187655,291922,297569,386881,553534,553536,584908,758090,2347133,4261689,7145102,13278732,13560705,14124934,25070931,33337430,33337432,33337457,33337487,33337505,33337511,33337521,33337523,33337540,33337682,33337684,62898361,67782358,119623955,194384360,1159610485,1159610487,1159610489,1159610491,1159610493,1159610495,1159610497,1159610499,1159610501" 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/P00751" 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=629" 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=ENSG00000243649;t=ENST00000425368" 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=CFB" 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=CFB" 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+629" 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/CFB" 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:629" 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/629" 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=chr6&hgg_gene=ENST00000456570.5&hgg_start=31946095&hgg_end=31952084&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:1037" 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=138470[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=138470[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/ENSG00000243649" 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=CFB" 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=CFB" 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=CFB" 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=CFB&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/PA25341" 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:1037" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:105975" 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/CFB#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:105975" 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/629/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=629" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-980526-487" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
|
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</div>
|
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</div>
|
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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:629" 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=CFB&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">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
138470
|
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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>
|
|
<span class="mim-font">
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COMPLEMENT FACTOR B; CFB
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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">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
FACTOR B; FB<br />
|
|
PROPERDIN FACTOR B; BF<br />
|
|
FACTOR B, PROPERDIN<br />
|
|
C3 PROACTIVATOR<br />
|
|
C3 PROACCELERATOR<br />
|
|
GLYCINE-RICH BETA-GLYCOPROTEIN; GBG
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CFB" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CFB</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/6/343?start=-3&limit=10&highlight=343">6p21.33</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:31946095-31952084&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'})">6:31,946,095-31,952,084</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=615561,612924,615489" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/343?start=-3&limit=10&highlight=343">
|
|
6p21.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Complement factor B deficiency
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/615561"> 615561 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Hemolytic uremic syndrome, atypical, susceptibility to, 4}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/612924"> 612924 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Macular degeneration, age-related, 14, reduced risk of}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/615489"> 615489 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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<p>The CFB gene encodes complement factor B, which is part of the alternative complement pathway. Complement factor B is cleaved into a 30-kD N terminal 'Ba' fragment and a 57-kD C-terminal 'Bb' fragment by factor D (CFD; <a href="/entry/134350">134350</a>) in the presence of C3b. The C-terminal half of the Bb fragment contains the essential active site residues characteristic of serine proteases, but has a molecular weight twice that of proteinases previously described, suggesting that it is a novel type of serine proteinase. The Bb fragment forms the C3bBb alternative pathway convertase (<a href="#16" class="mim-tip-reference" title="Christie, D. L., Gagnon, J. <strong>Amino acid sequence of the Bb fragment from complement factor B: sequence of the major cyanogen bromide-cleavage peptide (CB-II) and completion of the sequence of the Bb fragment.</strong> Biochem. J. 209: 61-70, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6342610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6342610</a>] [<a href="https://doi.org/10.1042/bj2090061" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6342610">Christie and Gagnon, 1983</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6342610" 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>Complement factor B was originally known as a glycine-rich beta-glycoprotein (GBG).</p>
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<p><a href="#16" class="mim-tip-reference" title="Christie, D. L., Gagnon, J. <strong>Amino acid sequence of the Bb fragment from complement factor B: sequence of the major cyanogen bromide-cleavage peptide (CB-II) and completion of the sequence of the Bb fragment.</strong> Biochem. J. 209: 61-70, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6342610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6342610</a>] [<a href="https://doi.org/10.1042/bj2090061" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6342610">Christie and Gagnon (1983)</a> determined that the major product of factor B cleavage, Bb, is composed of 505 amino acids and has a molecular mass of 57 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6342610" 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="Campbell, R. D., Porter, R. R. <strong>Molecular cloning and characterization of the gene coding for human complement protein factor B.</strong> Proc. Nat. Acad. Sci. 80: 4464-4468, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6308626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6308626</a>] [<a href="https://doi.org/10.1073/pnas.80.14.4464" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6308626">Campbell and Porter (1983)</a> isolated clones corresponding to the complement protein factor B gene from a human liver cDNA library. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6308626" 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="#23" class="mim-tip-reference" title="Forneris, F., Ricklin, D., Wu, J., Tzekou, A., Wallace, R. S., Lambris, J. D., Gros, P. <strong>Structures of C3b in complex with factors B and D give insight into complement convertase formation.</strong> Science 330: 1816-1820, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21205667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21205667</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21205667[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/10.1126/science.1195821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21205667">Forneris et al. (2010)</a> presented crystal structures of the proconvertase C3bB (see <a href="/entry/120700">120700</a>) at 4-angstrom resolution and its complex with factor D (<a href="/entry/134350">134350</a>) at 3.5-angstrom resolution. Their data showed how factor B binding to C3b forms an open 'activation' state of C3bB. Factor D specifically binds the open conformation of factor B through a site distant from the catalytic center and is activated by the substrate, which displaces factor D's self-inhibitory loop. This concerted proteolytic mechanism, which if cofactor-dependent and substrate-induced, restricts complement amplification to C3b-tagged target cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21205667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#12" class="mim-tip-reference" title="Campbell, R. D., Porter, R. R. <strong>Molecular cloning and characterization of the gene coding for human complement protein factor B.</strong> Proc. Nat. Acad. Sci. 80: 4464-4468, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6308626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6308626</a>] [<a href="https://doi.org/10.1073/pnas.80.14.4464" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6308626">Campbell and Porter (1983)</a> determined that the Bb portion of the factor B gene is about 4 kb long. The 3-prime end of the gene codes for amino acids 87-505 of Bb and includes the serine protease domain of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6308626" 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="Campbell, R. D. <strong>The molecular genetics and polymorphism of C2 and factor B.</strong> Brit. Med. Bull. 43: 37-49, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3315100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3315100</a>] [<a href="https://doi.org/10.1093/oxfordjournals.bmb.a072175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3315100">Campbell (1987)</a> determined that the complete factor B gene spans 6 kb and contains 18 exons, whereas the C2 gene (<a href="/entry/613927">613927</a>) spans 18 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3315100" 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="#4" class="mim-tip-reference" title="Allen, F. H., Jr. <strong>Linkage of HL-A and GBG.</strong> Vox Sang. 27: 382-384, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4414487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4414487</a>] [<a href="https://doi.org/10.1111/j.1423-0410.1974.tb02433.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4414487">Allen (1974)</a> showed that GBG and HLA (see, e.g., HLA-A; <a href="/entry/142800">142800</a>) are tightly linked on chromosome 6p21. No recombinants were observed among 44 children from 12 informative families. <a href="#38" class="mim-tip-reference" title="Rittner, C., Grosse-Wilde, H., Rittner, B., Netzel, B., Scholz, S., Lorenz, H., Albert, E. D. <strong>Linkage group HL-A-MLC-Bf (properdin factor B): the site of the Bf locus at the immunogenetic linkage group on chromosome 6.</strong> Humangenetik 27: 173-183, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/125222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">125222</a>] [<a href="https://doi.org/10.1007/BF00278344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="125222">Rittner et al. (1975)</a> found a recombination fraction of 6.1% between HLA and the GBG locus, which they symbolized 'Bf.' They further proposed that Bf is closely linked to the MLC locus with the following order: HLA (first locus)--HLA (second locus)--MLC--Bf--PGM3 (<a href="/entry/172100">172100</a>). <a href="#42" class="mim-tip-reference" title="Teisberg, P., Olaisen, B., Gedde-Dahl, T., Jr., Thorsby, E. <strong>On the localization of the Gb locus within the MHS region of chromosome no. 6.</strong> Tissue Antigens 5: 257-261, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1154360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1154360</a>] [<a href="https://doi.org/10.1111/j.1399-0039.1975.tb01472.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1154360">Teisberg et al. (1975)</a> found 90 apparently nonrecombinant offspring from 23 matings. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4414487+125222+1154360" 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="#34" class="mim-tip-reference" title="Raum, D., Glass, D., Carpenter, C. B., Alper, C. A., Schur, P. H. <strong>The chromosomal order of genes controlling the major histocompatibility complex, properdin factor B, and deficiency of the second component of complement.</strong> J. Clin. Invest. 58: 1240-1248, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/993342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">993342</a>] [<a href="https://doi.org/10.1172/JCI108578" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="993342">Raum et al. (1976)</a> concluded that the factor B locus and the C2 deficiency locus (<a href="/entry/217000">217000</a>) are close together, and that the 2 loci are 3 to 5 cM from the HLA-A and HLA-B loci. Two crossovers out of 57 were observed for C2 versus HLA-B, and 3 out of 72 for factor B versus HLA-B. The order of the genes was taken to be HLA-A, -B, -D, factor B, C2. <a href="#3" class="mim-tip-reference" title="Albert, E. D., Rittner, C., Grosse-Wilde, H., Netzel, B., Scholz, S. <strong>Recombination frequency and linkage disequilibrium between HL-A and Bf. In: Kissmeyer-Nielsen, F.: Histocompatibility Testing 1975.</strong> Copenhagen: Munksgaard (pub.) 1975. Pp. 941-944."None>Albert et al. (1975)</a> presented data they interpreted as suggesting that the Bf locus is between HLA-B and HLA-D. Linkage disequilibrium likewise suggested that Bf is close to HLA-B but not close to HLA-A (<a href="#9" class="mim-tip-reference" title="Bender, K., Mayerova, A., Frank, R., Hiller, C., Wienker, T. <strong>Haplotype analysis of the linkage group HLA-A: HLA-B: Bf and its bearing on the interpretation of the linkage disequilibrium.</strong> Hum. Genet. 36: 191-196, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/858626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">858626</a>] [<a href="https://doi.org/10.1007/BF00273257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="858626">Bender et al., 1977</a>). Analysis of what Edwards preferred to call allelic association (because it does not have implications of a disturbance driven by selection or other forces as may 'linkage disequilibrium') led <a href="#8" class="mim-tip-reference" title="Arnason, A., Larsen, B., Marshall, W. H., Edwards, J. H., Mackintosh, P., Olaisen, B., Teisberg, P. <strong>Very close linkage between HLA-B and Bf inferred from allelic association.</strong> Nature 268: 527-528, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/889587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">889587</a>] [<a href="https://doi.org/10.1038/268527a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="889587">Arnason et al. (1977)</a> to conclude that the HLA-B locus and the Bf locus are very close. For most workers, linkage disequilibrium means merely that the coupling and repulsion phases are not equally frequent. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=993342+858626+889587" 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="#32" class="mim-tip-reference" title="Raum, D., Alper, C. A., Stein, R., Gabbay, K. H. <strong>Genetic marker for insulin-dependent diabetes mellitus.</strong> Lancet 313: 1208-1210, 1979. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/87677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">87677</a>] [<a href="https://doi.org/10.1016/s0140-6736(79)91895-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="87677">Raum et al. (1979)</a> found no recombination between C2 and BF in 28 meioses. Furthermore, they found that the C2 and HLA-B loci show a recombination fraction of 0.02 at the maximal lod score, 14.39. This appeared to put C2 outside the MHC and to suggest the order pter, HLA-A, -B, -D, (BF, C2), GLO1 (<a href="/entry/138750">138750</a>), centromere. On the basis of 4 overlapping cosmid clones, <a href="#15" class="mim-tip-reference" title="Carroll, M. C., Campbell, R. D., Bentley, D. R., Porter, R. R. <strong>A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B.</strong> Nature 307: 237-241, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6559257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6559257</a>] [<a href="https://doi.org/10.1038/307237a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6559257">Carroll et al. (1984)</a> aligned 4 human complement genes, which are known to map between HLA-D and HLA-B. The C2 and BF genes are about 30 kb from the two C4 genes, C4A (<a href="/entry/120810">120810</a>) and C4B (<a href="/entry/120820">120820</a>), which are separated from each other by about 10 kb. <a href="#13" class="mim-tip-reference" title="Campbell, R. D. <strong>The molecular genetics and polymorphism of C2 and factor B.</strong> Brit. Med. Bull. 43: 37-49, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3315100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3315100</a>] [<a href="https://doi.org/10.1093/oxfordjournals.bmb.a072175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3315100">Campbell (1987)</a> reviewed the molecular genetics of C2 and factor B. The 2 genes are closely linked; the 3-prime end of the C2 gene lies only 421 basepairs from the 5-prime end of the factor B gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=87677+3315100+6559257" 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="#1" class="mim-tip-reference" title="Abbal, M., Moennarid, C., Cambon-Thomsen, A., Tkaczuk, J., Ohayon, E., Mauff, G. <strong>A new BF variant (BF S11) with information for orientation of MHC class III genes.</strong> Immunogenetics 26: 320-322, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3653945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3653945</a>] [<a href="https://doi.org/10.1007/BF00346532" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3653945">Abbal et al. (1987)</a> studied 3 independent families with the same new BF variant. Assuming that these rare variants derived from single mutations and that the differences in haplotypes bearing said variants must be the result of a minimum of 'historic' crossovers, the order is probably HLA-B, C2, BF, C4A, 21-OHA, C4B, 21-OHB, DR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3653945" 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="#5" class="mim-tip-reference" title="Alper, C. A., Boenisch, T., Watson, L. <strong>Genetic polymorphism in human glycine-rich-beta glycoprotein.</strong> J. Exp. Med. 135: 68-80, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4109808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4109808</a>] [<a href="https://doi.org/10.1084/jem.135.1.68" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4109808">Alper et al. (1972)</a> found evidence of extensive polymorphism of serum glycine-rich beta-glycoprotein (GBG) in humans. At least 5 components were demonstrated on electrophoresis. It was concluded that 4 alleles exist at a locus then designated GB. GB(S) and GB(F) were found in all populations but in different proportions. The common alleles, GB(S) and GB(F), have a frequency of about 0.73 and 0.25, respectively (<a href="#4" class="mim-tip-reference" title="Allen, F. H., Jr. <strong>Linkage of HL-A and GBG.</strong> Vox Sang. 27: 382-384, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4414487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4414487</a>] [<a href="https://doi.org/10.1111/j.1423-0410.1974.tb02433.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4414487">Allen, 1974</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4414487+4109808" 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="#32" class="mim-tip-reference" title="Raum, D., Alper, C. A., Stein, R., Gabbay, K. H. <strong>Genetic marker for insulin-dependent diabetes mellitus.</strong> Lancet 313: 1208-1210, 1979. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/87677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">87677</a>] [<a href="https://doi.org/10.1016/s0140-6736(79)91895-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="87677">Raum et al. (1979)</a> found a rare genetic type of properdin factor B (F1) in 22.6% of patients with insulin-dependent diabetes but in only 1.9% of the general population. If this is an indication of linkage disequilibrium, not association, as the authors suggested, only some populations should show the relationship. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=87677" 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>Data on gene frequencies of allelic variants were tabulated by <a href="#39" class="mim-tip-reference" title="Roychoudhury, A. K., Nei, M. <strong>Human Polymorphic Genes: World Distribution.</strong> New York: Oxford Univ. Press (pub.) 1988."None>Roychoudhury and Nei (1988)</a>.</p><p><strong><em>Complement Factor B Deficiency</em></strong></p><p>
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In a woman with complement factor B deficiency (CFBD; <a href="/entry/615561">615561</a>), <a href="#40" class="mim-tip-reference" title="Slade, C., Bosco, J., Unglik, G., Bleasel, K., Nagel, M., Winship, I. <strong>Deficiency in complement factor B. (Letter)</strong> New Eng. J. Med. 369: 1667-1669, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24152280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24152280</a>] [<a href="https://doi.org/10.1056/NEJMc1306326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24152280">Slade et al. (2013)</a> identified compound heterozygous truncating mutations in the CFB gene (<a href="#0007">138470.0007</a> and <a href="#0008">138470.0008</a>). The patient had recurrent systemic infections with encapsulated bacteria since early childhood. Laboratory studies showed normal immunoglobulins and lymphocytes, but functional ELISA showed that the alternative complement pathway was inactive. The defect was not complemented by factor B-depleted serum, and factor B was undetectable by radial immunodiffusion. The mutations were found by genome sequencing of the CFB gene and segregated with the disorder in the family. Complement studies in the parents showed normal activity of the alternative complement pathway. The findings illustrated the role of complement factor B in the protection against infection with encapsulated organisms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24152280" 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>Age-Related Macular Degeneration</em></strong></p><p>
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Because CFH (<a href="/entry/134370">134370</a>) haplotypes are associated with age-related macular degeneration (ARMD; see <a href="/entry/603075">603075</a>), <a href="#25" class="mim-tip-reference" title="Gold, B., Merriam, J. E., Zernant, J., Hancox, L. S., Taiber, A. J., Gehrs, K., Cramer, K., Neel, J., Bergeron, J., Barile, G. R., Smith, R. T., AMD Genetics Clinical Study Group, Hageman, G. S., Dean, M., Allikmets, R. <strong>Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.</strong> Nature Genet. 38: 458-462, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16518403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16518403</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16518403[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng1750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16518403">Gold et al. (2006)</a> hypothesized that the same may be true for activators of the same pathway, such as complement factor B. <a href="#25" class="mim-tip-reference" title="Gold, B., Merriam, J. E., Zernant, J., Hancox, L. S., Taiber, A. J., Gehrs, K., Cramer, K., Neel, J., Bergeron, J., Barile, G. R., Smith, R. T., AMD Genetics Clinical Study Group, Hageman, G. S., Dean, M., Allikmets, R. <strong>Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.</strong> Nature Genet. 38: 458-462, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16518403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16518403</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16518403[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng1750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16518403">Gold et al. (2006)</a> screened the BF and C2 genes for genetic variation in 2 independent cohorts comprising approximately 900 individuals with ARMD and approximately 400 matched controls. Haplotype analyses identified a statistically significant common risk haplotype and 2 protective haplotypes. Haplotype H10, consisting of the L9H variant (<a href="#0003">138470.0003</a>) of BF and the E318D variant (<a href="/entry/613927#0004">613927.0004</a>) of C2, and haplotype H7, consisting of the variant in intron 10 (<a href="/entry/613927#0005">613927.0005</a>) of C2 and the R32Q variant (<a href="#0004">138470.0004</a>) of BF, conferred a significantly reduced risk of ARMD (OR = 0.36 and 0.45, respectively). Combined analysis of the C2/BF haplotypes and CFH variants showed that variation in the 2 loci can predict the clinical outcome in 74% of affected individuals and 56% of controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16518403" 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="#43" class="mim-tip-reference" title="Thakkinstian, A., McEvoy, M., Chakravarthy, U., Chakrabarti, S., McKay, G. J., Ryu, E., Silvestri, G., Kaur, I., Francis, P., Iwata, T., Akahori, M., Arning, A., Edwards, A. O., Seddon, J. M., Attia, J. <strong>The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis.</strong> Am. J. Epidemiol. 176: 361-372, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22869612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22869612</a>] [<a href="https://doi.org/10.1093/aje/kws031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22869612">Thakkinstian et al. (2012)</a> reviewed the association of C2/CFB gene polymorphisms with ARMD by pooling data from 19 studies published between 2006 and 2011 for 4 polymorphisms: <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs9332739;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs9332739</a> (<a href="/entry/613927#0004">613927.0004</a>) and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs547154;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs547154</a> (<a href="/entry/613927#0005">613927.0005</a>) in the C2 gene and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4151667;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4151667</a> (<a href="#0003">138470.0003</a>) and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs641153;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs641153</a> (<a href="#0004">138470.0004</a>) in the CFB gene. Pooled minor allele frequencies for all 4 SNPs were between 4.7% and 9.6%, except for an Indian population in which the C allele at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs9332739;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs9332739</a> was the major allele. For the C2 polymorphisms, the minor C allele at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs9332739;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs9332739</a> and the minor T allele at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs547154;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs547154</a> carried estimated relative risks (odds ratios) of 0.55 (95% confidence interval (CI) 0.46, 0.65) and 0.47 (95% CI 0.39, 0.57), respectively. For the CFB polymorphisms, the minor A alleles at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4151667;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4151667</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs614153;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs614153</a> carried estimated risks of 0.54 (95% CI 0.45, 0.64) and 0.41 (95% CI 0.34, 0.51), respectively. These allele effects contributed to an absolute lowering of the risk of all AMD in Caucasian populations by 2.0-6.0%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22869612" 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>Susceptibility to Atypical Hemolytic Uremic Syndrome 4</em></strong></p><p>
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In affected members of a large Spanish kindred with atypical hemolytic uremic syndrome-4 (AHUS4; <a href="/entry/612924">612924</a>), <a href="#24" class="mim-tip-reference" title="Goicoechea de Jorge, E., Harris, C. L., Esparza-Gordillo, J., Carreras, L., Arranz, E. A., Garrido, C. A., Lopez-Trascasa, M., Sanchez-Corral, P., Morgan, B. P., Rodriguez de Cordoba, S. <strong>Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.</strong> Proc. Nat. Acad. Sci. 104: 240-245, 2007. Note: Erratum: Proc. Nat. Acad. Sci. 104: 10749 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17182750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17182750</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17182750[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.0603420103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17182750">Goicoechea de Jorge et al. (2007)</a> identified a heterozygous mutation in the CFB gene (F286L; <a href="#0005">138470.0005</a>). Functional expression studies showed that the mutant CFB resulted in increased formation of the C3bBb complex, indicating a gain-of-function effect that enhanced the generation of C3b. <a href="#24" class="mim-tip-reference" title="Goicoechea de Jorge, E., Harris, C. L., Esparza-Gordillo, J., Carreras, L., Arranz, E. A., Garrido, C. A., Lopez-Trascasa, M., Sanchez-Corral, P., Morgan, B. P., Rodriguez de Cordoba, S. <strong>Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.</strong> Proc. Nat. Acad. Sci. 104: 240-245, 2007. Note: Erratum: Proc. Nat. Acad. Sci. 104: 10749 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17182750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17182750</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17182750[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.0603420103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17182750">Goicoechea de Jorge et al. (2007)</a> noted that the family showed incomplete penetrance for the F286L mutation. Further genetic analysis showed that all members with the F286L mutation who developed aHUS also carried the at-risk MCP (<a href="/entry/120920">120920</a>) haplotype described by <a href="#22" 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>. <a href="#24" class="mim-tip-reference" title="Goicoechea de Jorge, E., Harris, C. L., Esparza-Gordillo, J., Carreras, L., Arranz, E. A., Garrido, C. A., Lopez-Trascasa, M., Sanchez-Corral, P., Morgan, B. P., Rodriguez de Cordoba, S. <strong>Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.</strong> Proc. Nat. Acad. Sci. 104: 240-245, 2007. Note: Erratum: Proc. Nat. Acad. Sci. 104: 10749 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17182750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17182750</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17182750[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.0603420103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17182750">Goicoechea de Jorge et al. (2007)</a> identified a second heterozygous mutation in the CFB gene (K323E; <a href="#0006">138470.0006</a>) in another unrelated patient with aHUS; this patient also carried the MCP haplotype. These findings indicated that the aHUS phenotype results from multiple different genetic hits in the complement pathway, and that persistent activation of the alternative pathway can also result in aHUS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15661753+17182750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Alper, C. A., Goodkofsky, I., Lepow, I. H. <strong>The relationship of glycine-rich beta-glycoprotein to factor B in the properdin system and to cobra-binding protein of human serum.</strong> J. Exp. Med. 137: 424-437, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4734403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4734403</a>] [<a href="https://doi.org/10.1084/jem.137.2.424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4734403">Alper et al. (1973)</a> showed that the glycine-rich beta-glycoprotein (GBG) in humans is the same as factor B in the properdin system, also known as C3 proaccelerator. Because of the tight linkage of GBG and HLA and the general characteristics of GBG, homology to the mouse S gene was considered possible. The mouse S gene determines a polymorphic serum protein that lies in the midst of the H-2 region. In 1974, at the Second International Congress of Immunology, the WHO nomenclature committee on complement proposed that this be called factor B. Other names have included properdin factor B and C3 proactivator. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4734403" 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 <a href="#44" class="mim-tip-reference" title="WHO-IUIS Nomenclature Sub-Committee. <strong>Nomenclature for human complement factor B*2.</strong> Europ. J. Immunogenet. 20: 307-309, 1993."None>WHO-IUIS Nomenclature Sub-committee (1993)</a> made recommendations on nomenclature for complement factor B.</p>
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<p><a href="#41" class="mim-tip-reference" title="Taube, C., Thurman, J. M., Takeda, K., Joetham, A., Miyahara, N., Carroll, M. C., Dakhama, A., Giclas, P. C., Holers, V. M., Gelfand, E. W. <strong>Factor B of the alternative complement pathway regulates development of airway hyperresponsiveness and inflammation.</strong> Proc. Nat. Acad. Sci. 103: 8084-8089, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16702544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16702544</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16702544[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.0602357103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16702544">Taube et al. (2006)</a> studied mice deficient in C4, a critical component of the classical complement pathway, or in Cfb, an essential protein in the alternative complement pathway. Following ovalbumin sensitization and allergen challenge, Cfb-deficient mice, but not C4-deficient mice, showed significantly lower airway hyperresponsiveness (AHR) and less airway inflammation than wildtype mice. Goblet cell hyperplasia and Il4 (<a href="/entry/147780">147780</a>), Il5 (<a href="/entry/147850">147850</a>), and Il13 (<a href="/entry/147683">147683</a>) levels in bronchoalveolar lavage fluid were significantly reduced in Cfb-deficient mice compared with C4-deficient and wildtype mice. Development of AHR and airway inflammation could be restored in Cfb-deficient mice with prior intranasal administration of Cfb. Administration of anti-Cfb to sensitized mice reduced AHR development and airway inflammation. <a href="#41" class="mim-tip-reference" title="Taube, C., Thurman, J. M., Takeda, K., Joetham, A., Miyahara, N., Carroll, M. C., Dakhama, A., Giclas, P. C., Holers, V. M., Gelfand, E. W. <strong>Factor B of the alternative complement pathway regulates development of airway hyperresponsiveness and inflammation.</strong> Proc. Nat. Acad. Sci. 103: 8084-8089, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16702544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16702544</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16702544[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.0602357103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16702544">Taube et al. (2006)</a> concluded that complement activation through the alternative pathway after allergen exposure in sensitized hosts is critical to development of AHR and airway inflammation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16702544" 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>Bullous pemphigoid (BP) is a subepidermal blistering skin disorder of the elderly associated with autoantibodies directed against the hemidesmosomal proteins BP180 (COL17A1; <a href="/entry/113811">113811</a>) and BP230 (DST; <a href="/entry/113810">113810</a>). <a href="#29" class="mim-tip-reference" title="Nelson, K. C., Zhao, M., Schroeder, P. R., Li, N., Wetsel, R. A., Diaz, L. A., Liu, Z. <strong>Role of different pathways of the complement cascade in experimental bullous pemphigoid.</strong> J. Clin. Invest. 116: 2892-2900, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17024247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17024247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17024247[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/10.1172/JCI17891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17024247">Nelson et al. (2006)</a> found that mice deficient in the alternative pathway complement factor B had delayed and less intense subepidermal blisters following challenge with anti-BP180. Mice lacking the classical complement component C4 were resistant to experimental BP and had significantly reduced mast cell degranulation and neutrophil skin infiltration. BP disease in C4-deficient mice could be restored by treatment with a mast cell degranulating agent or by injection of the neutrophil chemoattractant IL8 (<a href="/entry/146930">146930</a>). <a href="#29" class="mim-tip-reference" title="Nelson, K. C., Zhao, M., Schroeder, P. R., Li, N., Wetsel, R. A., Diaz, L. A., Liu, Z. <strong>Role of different pathways of the complement cascade in experimental bullous pemphigoid.</strong> J. Clin. Invest. 116: 2892-2900, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17024247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17024247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17024247[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/10.1172/JCI17891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17024247">Nelson et al. (2006)</a> concluded that complement activation via the alternative and classical pathways is necessary for blister formation in experimental BP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17024247" 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> rs641153 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs641153;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/rs641153?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=rs641153" 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=rs641153" 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=RCV000017453 OR RCV000017454 OR RCV000017458 OR RCV000259759 OR RCV000281261 OR RCV000319518 OR RCV000455762 OR RCV001154197 OR RCV001515636 OR RCV002293980 OR RCV002504800" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017453, RCV000017454, RCV000017458, RCV000259759, RCV000281261, RCV000319518, RCV000455762, RCV001154197, RCV001515636, RCV002293980, RCV002504800" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017453...</a>
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<p>The molecular basis for allelic variation at the factor B locus, i.e., the 2 common alleles F and S, has been defined; a G-to-A transition in codon 8 changes the amino acid from arginine in the S allele to glutamine in the F allele (<a href="#13" class="mim-tip-reference" title="Campbell, R. D. <strong>The molecular genetics and polymorphism of C2 and factor B.</strong> Brit. Med. Bull. 43: 37-49, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3315100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3315100</a>] [<a href="https://doi.org/10.1093/oxfordjournals.bmb.a072175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3315100">Campbell, 1987</a>). This fits with the difference in electrophoretic mobility of the 2 variants, with the F allele carrying a less positive charge and thus moving more toward the anode. <a href="#28" class="mim-tip-reference" title="Mejia, J. E., Jahn, I., de la Salle, H., Hauptmann, G. <strong>Human factor B: complete cDNA sequence of the BF*S allele.</strong> Hum. Immun. 39: 49-53, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8181962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8181962</a>] [<a href="https://doi.org/10.1016/0198-8859(94)90100-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8181962">Mejia et al. (1994)</a> presented the complete cDNA sequence of the BF*S allele. BF*S is the most common allele. The BF*S, BF*FA, and BF*FB have a combined frequency in excess of 0.95. <a href="#18" class="mim-tip-reference" title="Davrinche, C., Abbal, M., Clerc, A. <strong>Molecular characterization of human complement factor B subtypes.</strong> Immunogenetics 32: 309-312, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2249879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2249879</a>] [<a href="https://doi.org/10.1007/BF00211644" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2249879">Davrinche et al. (1990)</a> showed that these differ from one another at the codon for the seventh amino acid: CAG (gln) in BF*FA, TGG (trp) in BF*FB, and CGG (arg) in BF*S. The changes involve nucleotides 94 and 95 (see fig. 1 of <a href="#28" class="mim-tip-reference" title="Mejia, J. E., Jahn, I., de la Salle, H., Hauptmann, G. <strong>Human factor B: complete cDNA sequence of the BF*S allele.</strong> Hum. Immun. 39: 49-53, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8181962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8181962</a>] [<a href="https://doi.org/10.1016/0198-8859(94)90100-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8181962">Mejia et al., 1994</a>). (Codon 8 in the cDNA corresponds to amino acid 7 in the protein.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3315100+8181962+2249879" 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> rs12614 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs12614;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/rs12614?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=rs12614" 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=rs12614" 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=RCV000017455 OR RCV000293644 OR RCV000324324 OR RCV000324934 OR RCV001154196 OR RCV001510498 OR RCV002293981 OR RCV002496388 OR RCV004549373" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017455, RCV000293644, RCV000324324, RCV000324934, RCV001154196, RCV001510498, RCV002293981, RCV002496388, RCV004549373" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017455...</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs4151667 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4151667;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/rs4151667?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=rs4151667" 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=rs4151667" 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=RCV000017457 OR RCV000264554 OR RCV000288622 OR RCV000385220 OR RCV000454952 OR RCV001154195 OR RCV001516300 OR RCV002490378 OR RCV004549374" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017457, RCV000264554, RCV000288622, RCV000385220, RCV000454952, RCV001154195, RCV001516300, RCV002490378, RCV004549374" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017457...</a>
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<p><a href="#25" class="mim-tip-reference" title="Gold, B., Merriam, J. E., Zernant, J., Hancox, L. S., Taiber, A. J., Gehrs, K., Cramer, K., Neel, J., Bergeron, J., Barile, G. R., Smith, R. T., AMD Genetics Clinical Study Group, Hageman, G. S., Dean, M., Allikmets, R. <strong>Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.</strong> Nature Genet. 38: 458-462, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16518403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16518403</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16518403[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng1750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16518403">Gold et al. (2006)</a> identified a 26T-A transversion in the CFB gene, resulting in a leu9-to-his variant (L9H; <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4151667;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4151667</a>). In approximately 900 individuals with ARMD (ARMD14; <a href="/entry/615489">615489</a>) and approximately 400 controls, they found a significant association between haplotype H10, consisting of the L9H variant and the E318D variant (<a href="/entry/613927#0004">613927.0004</a>) of the C2 gene, and a reduced risk of ARMD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16518403" 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="#27" class="mim-tip-reference" title="Maller, J., George, S., Purcell, S., Fagerness, J., Altshuler, D., Daly, M. J., Seddon, J. M. <strong>Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.</strong> Nature Genet. 38: 1055-1059, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16936732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16936732</a>] [<a href="https://doi.org/10.1038/ng1873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16936732">Maller et al. (2006)</a> replicated the association of the L9H variant of CFB and the E318D variant of C2 with risk of ARMD, noting that although this pair of SNPs has minor alleles that confer an equivalent protective effect, they found these effects to be independent and distinct. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16936732" 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> rs641153 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs641153;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/rs641153?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=rs641153" 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=rs641153" 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=RCV000017453 OR RCV000017454 OR RCV000017458 OR RCV000259759 OR RCV000281261 OR RCV000319518 OR RCV000455762 OR RCV001154197 OR RCV001515636 OR RCV002293980 OR RCV002504800" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017453, RCV000017454, RCV000017458, RCV000259759, RCV000281261, RCV000319518, RCV000455762, RCV001154197, RCV001515636, RCV002293980, RCV002504800" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017453...</a>
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<p><a href="#25" class="mim-tip-reference" title="Gold, B., Merriam, J. E., Zernant, J., Hancox, L. S., Taiber, A. J., Gehrs, K., Cramer, K., Neel, J., Bergeron, J., Barile, G. R., Smith, R. T., AMD Genetics Clinical Study Group, Hageman, G. S., Dean, M., Allikmets, R. <strong>Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.</strong> Nature Genet. 38: 458-462, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16518403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16518403</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16518403[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng1750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16518403">Gold et al. (2006)</a> identified a 95G-A transition in the CFB gene, resulting in an arg32-to-gln variant (R32Q; <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs641153;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs641153</a>). In approximately 900 individuals with ARMD (ARMD14; <a href="/entry/615489">615489</a>) and approximately 400 controls, they found a significant association between haplotype H7, consisting of the R32Q variant and the intron 10 variant (<a href="/entry/613927#0005">613927.0005</a>) of the C2 gene, and a reduced risk of ARMD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16518403" 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="#27" class="mim-tip-reference" title="Maller, J., George, S., Purcell, S., Fagerness, J., Altshuler, D., Daly, M. J., Seddon, J. M. <strong>Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.</strong> Nature Genet. 38: 1055-1059, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16936732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16936732</a>] [<a href="https://doi.org/10.1038/ng1873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16936732">Maller et al. (2006)</a> replicated the association of the R32Q variant of CFB and the intron 10 variant of C2 with risk of ARMD, noting that although this pair of SNPs has minor alleles that confer an equivalent protective effect, they found these effects to be independent and distinct. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16936732" 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> rs117905900 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs117905900;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/rs117905900?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=rs117905900" 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=rs117905900" 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=RCV000017459" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017459" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017459</a>
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<p>In affected members of a large Spanish kindred with atypical hemolytic uremic syndrome-4 (AHUS4; <a href="/entry/612924">612924</a>), <a href="#24" class="mim-tip-reference" title="Goicoechea de Jorge, E., Harris, C. L., Esparza-Gordillo, J., Carreras, L., Arranz, E. A., Garrido, C. A., Lopez-Trascasa, M., Sanchez-Corral, P., Morgan, B. P., Rodriguez de Cordoba, S. <strong>Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.</strong> Proc. Nat. Acad. Sci. 104: 240-245, 2007. Note: Erratum: Proc. Nat. Acad. Sci. 104: 10749 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17182750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17182750</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17182750[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.0603420103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17182750">Goicoechea de Jorge et al. (2007)</a> identified a heterozygous 858C-G transversion in exon 6 of the CFB gene, resulting in a phe286-to-leu (F286L) substitution in the von Willebrand type A domain. The family had originally been reported by <a href="#14" class="mim-tip-reference" title="Carreras, L., Romero, R., Requesens, C., Oliver, A. J., Carrera, M., Clavo, M., Alsina, J. <strong>Familial hypocomplementemic hemolytic uremic syndrome with HLA-A3,B7 haplotype.</strong> JAMA 245: 602-604, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7452889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7452889</a>]" pmid="7452889">Carreras et al. (1981)</a>. The mutation segregated with low levels of C3 (<a href="/entry/120700">120700</a>) in all individuals with AHUS. The mutation was not found in 100 control individuals. Functional expression studies showed that the mutant CFB resulted in increased formation of the C3bBb complex, indicating a gain-of-function effect that enhanced the generation of C3b. This explains the increased levels of CFB cleavage and C3 consumption found in mutation carriers. However, the mutant protein also showed increased decay, suggesting that the gain-of-function effect occurs only when the supply of CFB is unlimited. <a href="#24" class="mim-tip-reference" title="Goicoechea de Jorge, E., Harris, C. L., Esparza-Gordillo, J., Carreras, L., Arranz, E. A., Garrido, C. A., Lopez-Trascasa, M., Sanchez-Corral, P., Morgan, B. P., Rodriguez de Cordoba, S. <strong>Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.</strong> Proc. Nat. Acad. Sci. 104: 240-245, 2007. Note: Erratum: Proc. Nat. Acad. Sci. 104: 10749 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17182750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17182750</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17182750[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.0603420103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17182750">Goicoechea de Jorge et al. (2007)</a> noted that the family showed incomplete penetrance for the F286L mutation. Further genetic analysis showed that all members with the F286L mutation who developed aHUS also carried the at-risk MCP (<a href="/entry/120920">120920</a>) haplotype described by <a href="#22" 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>. These findings again indicated that the aHUS phenotype can result from multiple hits in the complement pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7452889+15661753+17182750" 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">rs121909748 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909748;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=rs121909748" 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=rs121909748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with AHUS4 (<a href="/entry/612924">612924</a>), <a href="#24" class="mim-tip-reference" title="Goicoechea de Jorge, E., Harris, C. L., Esparza-Gordillo, J., Carreras, L., Arranz, E. A., Garrido, C. A., Lopez-Trascasa, M., Sanchez-Corral, P., Morgan, B. P., Rodriguez de Cordoba, S. <strong>Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.</strong> Proc. Nat. Acad. Sci. 104: 240-245, 2007. Note: Erratum: Proc. Nat. Acad. Sci. 104: 10749 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17182750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17182750</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17182750[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.0603420103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17182750">Goicoechea de Jorge et al. (2007)</a> identified a de novo heterozygous 967A-G transition in exon 7 of the CFB gene, resulting in a lys323-to-glu (K323E) substitution in the von Willebrand type A domain. The mutation was not found in 100 control individuals. Functional expression studies showed that the mutant protein was less resistant to accelerated decay by DAF (<a href="/entry/125240">125240</a>) and factor H (CFH; <a href="/entry/134370">134370</a>). The patient was also found to carry the at-risk MCP (<a href="/entry/120920">120920</a>) haplotype described by <a href="#22" 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>. These findings again indicated that the aHUS phenotype can result from multiple hits in the complement pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15661753+17182750" 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> rs398123065 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398123065;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/rs398123065?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=rs398123065" 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=rs398123065" 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=RCV000077869 OR RCV003556158" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000077869, RCV003556158" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000077869...</a>
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<p>In a 32-year-old woman, born of unrelated parents of English and Scottish origin, with complement factor B deficiency (CFBD; <a href="/entry/615561">615561</a>) manifest as recurrent systemic infections with encapsulated bacteria since early childhood, <a href="#40" class="mim-tip-reference" title="Slade, C., Bosco, J., Unglik, G., Bleasel, K., Nagel, M., Winship, I. <strong>Deficiency in complement factor B. (Letter)</strong> New Eng. J. Med. 369: 1667-1669, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24152280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24152280</a>] [<a href="https://doi.org/10.1056/NEJMc1306326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24152280">Slade et al. (2013)</a> identified compound heterozygous mutations in the CFB gene: a c.766C-T transition in exon 6, resulting in a gln256-to-ter (Q256X) substitution, and a 4-bp deletion (c.1894_1987delTTTG; <a href="#0008">138470.0008</a>) in exon 15, resulting in a frameshift and premature termination (Phe632CysfsTer8). Laboratory studies showed normal immunoglobulins and lymphocytes, but functional ELISA showed that the alternative complement pathway was inactive. The defect was not complemented by factor B-depleted serum, and factor B was undetectable by radial immunodiffusion. The mutations were found by genome sequencing of the CFB gene and segregated with the disorder in the family. Complement studies in the parents showed normal activity of the alternative complement pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24152280" 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">rs398124644 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398124644;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=rs398124644" 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=rs398124644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 4-bp deletion (c.1894_1987delTTTG) in exon 15 of the CFB gene that was found in compound heterozygous state in a patient with complement factor B deficiency by <a href="#40" class="mim-tip-reference" title="Slade, C., Bosco, J., Unglik, G., Bleasel, K., Nagel, M., Winship, I. <strong>Deficiency in complement factor B. (Letter)</strong> New Eng. J. Med. 369: 1667-1669, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24152280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24152280</a>] [<a href="https://doi.org/10.1056/NEJMc1306326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24152280">Slade et al. (2013)</a>, see <a href="#0007">138470.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24152280" 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="#Agarwal1976" class="mim-tip-reference" title="Agarwal, D. P., Goedde, H. W., Benkmann, H.-G., Flatz, G., Rahimi, A. G., Kaifie, A., Delbruck, H. <strong>Genetic polymorphism of C3 and serum levels of immunoglobulins, C3, C4 components of complement and C3-proactivator in four different populations of Afghanistan.</strong> Hum. Genet. 33: 67-72, 1976.">Agarwal et al. (1976)</a>; <a href="#Alper1976" class="mim-tip-reference" title="Alper, C. A. <strong>Inherited structural polymorphism in human C2: evidence for genetic linkage between C2 and Bf.</strong> J. Exp. Med. 144: 1111-1115, 1976.">Alper (1976)</a>; <a href="#Benkmann1980" class="mim-tip-reference" title="Benkmann, H. G., Goedde, H. W., Agarwal, D. P., Flatz, G., Rahimi, A., Kaifie, R. S., Delbruck, H. <strong>Properdin factor B polymorphism in Afghanistan.</strong> Hum. Hered. 30: 39-43, 1980.">Benkmann et al. (1980)</a>; <a href="#Bertrams1985" class="mim-tip-reference" title="Bertrams, J., Mauff, G. <strong>Another family with a silent allele of properdin factor B polymorphism (BF*QO).</strong> Hum. Genet. 70: 321-323, 1985.">Bertrams
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and Mauff (1985)</a>; <a href="#David1983" class="mim-tip-reference" title="David, V., Fauchet, R., Phengsavath, H., Guenet, L., Le Gall, J. Y. <strong>Properdin factor B (Bf) polymorphism: subtyping of SS phenotypes.</strong> Hum. Genet. 64: 189-190, 1983.">David et al. (1983)</a>; <a href="#Dornan1980" class="mim-tip-reference" title="Dornan, J., Allan, P., Noel, E. P., Larsen, B., Farid, N. R. <strong>Properdin factor B(Bf) allele Bf(F1) specifies an HLA-B18 diabetogenic haplotype.</strong> Diabetes 29: 423-427, 1980.">Dornan et al. (1980)</a>; <a href="#Dunham1987" class="mim-tip-reference" title="Dunham, I., Sargent, C. A., Trowsdale, J., Campbell, R. D. <strong>The orientation and location of the complement genes in the human MHC by pulsed field gel electrophoresis. (Abstract)</strong> Complement 4: 152-153, 1987.">Dunham
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et al. (1987)</a>; <a href="#Dykes1983" class="mim-tip-reference" title="Dykes, D. D., DeFurio, C. M., Polesky, H. F. <strong>Five new rare variants of the properdin factor B (BF) locus.</strong> Am. J. Hum. Genet. 35: 652-655, 1983.">Dykes et al. (1983)</a>; <a href="#Malavasi1981" class="mim-tip-reference" title="Malavasi, F., Olivetti, E., Milanese, C., Carbonara, A. O. <strong>Properdin factor B polymorphism in continental Italy and Sardinia.</strong> Hum. Genet. 58: 209-212, 1981.">Malavasi et al. (1981)</a>; <a href="#Nerl1982" class="mim-tip-reference" title="Nerl, C., O'Neill, G. J. <strong>Factor B polymorphism in North American blacks: study of a new variant Bf F1.35.</strong> Hum. Genet. 61: 357-359, 1982.">Nerl and
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O'Neill (1982)</a>; <a href="#Ohayon1980" class="mim-tip-reference" title="Ohayon, E., de Mouzon, A., Hauptmann, G., Klein, J., Ducos, J. <strong>Genetic linkage between Bf S0.7 (Bf S1) and HLA-Bw50.</strong> Hum. Genet. 54: 417-418, 1980.">Ohayon et al. (1980)</a>; <a href="#Raum1980" class="mim-tip-reference" title="Raum, D., Balner, H., Petersen, B. H., Alper, C. A. <strong>Genetic polymorphism of serum complement components in the chimpanzee.</strong> Immunogenetics 10: 455-468, 1980.">Raum et al. (1980)</a>; <a href="#Raum1979" class="mim-tip-reference" title="Raum, D., Glass, D., Carpenter, C. B., Schur, P. H., Alper, C. A. <strong>Mapping for the structural gene for the second component of complement with respect to the human major histocompatibility complex.</strong> Am. J. Hum. Genet. 31: 35-41, 1979.">Raum et al.
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(1979)</a>; <a href="#Raum1984" class="mim-tip-reference" title="Raum, D., Surgenor, T., Awdeh, Z., Marcus, D., Blumenthal, M., Yunis, E. J., Alper, C. A. <strong>An unusual 'morphologic' variant of BF S.</strong> Am. J. Hum. Genet. 36: 346-351, 1984.">Raum et al. (1984)</a>; <a href="#Rittner1976" class="mim-tip-reference" title="Rittner, C., Grosse-Wilde, H., Albert, E. D. <strong>Localization of the Bf locus within the HLA region: report on an informative family and critical evaluation of available data on Bf mapping.</strong> Hum. Genet. 35: 79-82, 1976.">Rittner et al. (1976)</a>; <a href="#Wyatt1981" class="mim-tip-reference" title="Wyatt, R. J., Julian, B. A., Galla, J. H. <strong>Properdin deficiency with IgA nephropathy. (Letter)</strong> New Eng. J. Med. 305: 1097 only, 1981.">Wyatt et al.
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(1981)</a>; <a href="#Ziegler1975" class="mim-tip-reference" title="Ziegler, J. B., Alper, C. A. <strong>Properdin factor B and histocompatibility loci linked in the rhesus monkey.</strong> Nature 254: 609-610, 1975.">Ziegler and Alper (1975)</a>
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Abbal, M., Moennarid, C., Cambon-Thomsen, A., Tkaczuk, J., Ohayon, E., Mauff, G.
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<strong>A new BF variant (BF S11) with information for orientation of MHC class III genes.</strong>
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Immunogenetics 26: 320-322, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3653945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3653945</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3653945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00346532" target="_blank">Full Text</a>]
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Agarwal, D. P., Goedde, H. W., Benkmann, H.-G., Flatz, G., Rahimi, A. G., Kaifie, A., Delbruck, H.
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<strong>Genetic polymorphism of C3 and serum levels of immunoglobulins, C3, C4 components of complement and C3-proactivator in four different populations of Afghanistan.</strong>
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Hum. Genet. 33: 67-72, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/939559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">939559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=939559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00447288" target="_blank">Full Text</a>]
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Albert, E. D., Rittner, C., Grosse-Wilde, H., Netzel, B., Scholz, S.
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<strong>Recombination frequency and linkage disequilibrium between HL-A and Bf. In: Kissmeyer-Nielsen, F.: Histocompatibility Testing 1975.</strong>
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Copenhagen: Munksgaard (pub.) 1975. Pp. 941-944.
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Allen, F. H., Jr.
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<strong>Linkage of HL-A and GBG.</strong>
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Vox Sang. 27: 382-384, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4414487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4414487</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4414487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1423-0410.1974.tb02433.x" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21205667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21205667</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21205667[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=21205667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1195821" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.0603420103" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng1750" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00278713" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng1873" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0198-8859(94)90100-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI17891" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00276600" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00291591" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(79)91895-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01572581" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI108578" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00295621" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00278344" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJMc1306326" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="41" class="mim-anchor"></a>
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<a id="Taube2006" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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|
Taube, C., Thurman, J. M., Takeda, K., Joetham, A., Miyahara, N., Carroll, M. C., Dakhama, A., Giclas, P. C., Holers, V. M., Gelfand, E. W.
|
|
<strong>Factor B of the alternative complement pathway regulates development of airway hyperresponsiveness and inflammation.</strong>
|
|
Proc. Nat. Acad. Sci. 103: 8084-8089, 2006.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16702544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16702544</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16702544[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=16702544" 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.0602357103" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="42" class="mim-anchor"></a>
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<a id="Teisberg1975" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Teisberg, P., Olaisen, B., Gedde-Dahl, T., Jr., Thorsby, E.
|
|
<strong>On the localization of the Gb locus within the MHS region of chromosome no. 6.</strong>
|
|
Tissue Antigens 5: 257-261, 1975.
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|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1154360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1154360</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1154360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0039.1975.tb01472.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="43" class="mim-anchor"></a>
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<a id="Thakkinstian2012" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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|
Thakkinstian, A., McEvoy, M., Chakravarthy, U., Chakrabarti, S., McKay, G. J., Ryu, E., Silvestri, G., Kaur, I., Francis, P., Iwata, T., Akahori, M., Arning, A., Edwards, A. O., Seddon, J. M., Attia, J.
|
|
<strong>The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis.</strong>
|
|
Am. J. Epidemiol. 176: 361-372, 2012.
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22869612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22869612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22869612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/aje/kws031" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="44" class="mim-anchor"></a>
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<a id="{WHO-IUIS Nomenclature Sub-Committee}1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
WHO-IUIS Nomenclature Sub-Committee.
|
|
<strong>Nomenclature for human complement factor B*2.</strong>
|
|
Europ. J. Immunogenet. 20: 307-309, 1993.
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</p>
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</div>
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</li>
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<li>
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<a id="45" class="mim-anchor"></a>
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<a id="Wyatt1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wyatt, R. J., Julian, B. A., Galla, J. H.
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<strong>Properdin deficiency with IgA nephropathy. (Letter)</strong>
|
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New Eng. J. Med. 305: 1097 only, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7278936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7278936</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7278936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM198110293051827" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="46" class="mim-anchor"></a>
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<a id="Ziegler1975" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Ziegler, J. B., Alper, C. A.
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<strong>Properdin factor B and histocompatibility loci linked in the rhesus monkey.</strong>
|
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Nature 254: 609-610, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/48198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">48198</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=48198" 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/10.1038/254609a0" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 06/28/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 1/13/2014<br>Ada Hamosh - updated : 1/28/2011<br>Cassandra L. Kniffin - updated : 7/27/2009<br>Paul J. Converse - updated : 12/6/2006<br>Victor A. McKusick - updated : 10/6/2006<br>Paul J. Converse - updated : 6/27/2006<br>Victor A. McKusick - updated : 4/26/2006
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 03/20/2023
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 06/28/2021<br>carol : 03/16/2018<br>carol : 10/30/2017<br>carol : 08/12/2016<br>carol : 01/14/2014<br>ckniffin : 1/13/2014<br>alopez : 10/28/2013<br>alopez : 10/22/2013<br>carol : 12/12/2011<br>carol : 4/27/2011<br>alopez : 2/3/2011<br>terry : 1/28/2011<br>terry : 10/21/2009<br>carol : 7/30/2009<br>ckniffin : 7/27/2009<br>terry : 1/14/2009<br>carol : 5/4/2007<br>mgross : 12/6/2006<br>alopez : 10/31/2006<br>alopez : 10/6/2006<br>mgross : 6/29/2006<br>terry : 6/27/2006<br>wwang : 5/1/2006<br>terry : 4/26/2006<br>carol : 12/11/1998<br>terry : 11/10/1997<br>davew : 8/10/1994<br>jason : 7/13/1994<br>terry : 6/30/1994<br>mimadm : 4/29/1994<br>warfield : 4/20/1994<br>carol : 4/12/1994
|
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
|
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<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 138470
|
|
</span>
|
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</h3>
|
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</div>
|
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|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
COMPLEMENT FACTOR B; CFB
|
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|
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</span>
|
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</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
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|
|
<div>
|
|
<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
FACTOR B; FB<br />
|
|
PROPERDIN FACTOR B; BF<br />
|
|
FACTOR B, PROPERDIN<br />
|
|
C3 PROACTIVATOR<br />
|
|
C3 PROACCELERATOR<br />
|
|
GLYCINE-RICH BETA-GLYCOPROTEIN; GBG
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: CFB</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 6p21.33
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 6:31,946,095-31,952,084 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
6p21.33
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Complement factor B deficiency
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
615561
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Hemolytic uremic syndrome, atypical, susceptibility to, 4}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
612924
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Macular degeneration, age-related, 14, reduced risk of}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
615489
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Digenic dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The CFB gene encodes complement factor B, which is part of the alternative complement pathway. Complement factor B is cleaved into a 30-kD N terminal 'Ba' fragment and a 57-kD C-terminal 'Bb' fragment by factor D (CFD; 134350) in the presence of C3b. The C-terminal half of the Bb fragment contains the essential active site residues characteristic of serine proteases, but has a molecular weight twice that of proteinases previously described, suggesting that it is a novel type of serine proteinase. The Bb fragment forms the C3bBb alternative pathway convertase (Christie and Gagnon, 1983). </p><p>Complement factor B was originally known as a glycine-rich beta-glycoprotein (GBG).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Christie and Gagnon (1983) determined that the major product of factor B cleavage, Bb, is composed of 505 amino acids and has a molecular mass of 57 kD. </p><p>Campbell and Porter (1983) isolated clones corresponding to the complement protein factor B gene from a human liver cDNA library. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Crystal Structure</em></strong></p><p>
|
|
Forneris et al. (2010) presented crystal structures of the proconvertase C3bB (see 120700) at 4-angstrom resolution and its complex with factor D (134350) at 3.5-angstrom resolution. Their data showed how factor B binding to C3b forms an open 'activation' state of C3bB. Factor D specifically binds the open conformation of factor B through a site distant from the catalytic center and is activated by the substrate, which displaces factor D's self-inhibitory loop. This concerted proteolytic mechanism, which if cofactor-dependent and substrate-induced, restricts complement amplification to C3b-tagged target cells. </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>Campbell and Porter (1983) determined that the Bb portion of the factor B gene is about 4 kb long. The 3-prime end of the gene codes for amino acids 87-505 of Bb and includes the serine protease domain of the protein. </p><p>Campbell (1987) determined that the complete factor B gene spans 6 kb and contains 18 exons, whereas the C2 gene (613927) spans 18 kb. </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>Allen (1974) showed that GBG and HLA (see, e.g., HLA-A; 142800) are tightly linked on chromosome 6p21. No recombinants were observed among 44 children from 12 informative families. Rittner et al. (1975) found a recombination fraction of 6.1% between HLA and the GBG locus, which they symbolized 'Bf.' They further proposed that Bf is closely linked to the MLC locus with the following order: HLA (first locus)--HLA (second locus)--MLC--Bf--PGM3 (172100). Teisberg et al. (1975) found 90 apparently nonrecombinant offspring from 23 matings. </p><p>Raum et al. (1976) concluded that the factor B locus and the C2 deficiency locus (217000) are close together, and that the 2 loci are 3 to 5 cM from the HLA-A and HLA-B loci. Two crossovers out of 57 were observed for C2 versus HLA-B, and 3 out of 72 for factor B versus HLA-B. The order of the genes was taken to be HLA-A, -B, -D, factor B, C2. Albert et al. (1975) presented data they interpreted as suggesting that the Bf locus is between HLA-B and HLA-D. Linkage disequilibrium likewise suggested that Bf is close to HLA-B but not close to HLA-A (Bender et al., 1977). Analysis of what Edwards preferred to call allelic association (because it does not have implications of a disturbance driven by selection or other forces as may 'linkage disequilibrium') led Arnason et al. (1977) to conclude that the HLA-B locus and the Bf locus are very close. For most workers, linkage disequilibrium means merely that the coupling and repulsion phases are not equally frequent. </p><p>Raum et al. (1979) found no recombination between C2 and BF in 28 meioses. Furthermore, they found that the C2 and HLA-B loci show a recombination fraction of 0.02 at the maximal lod score, 14.39. This appeared to put C2 outside the MHC and to suggest the order pter, HLA-A, -B, -D, (BF, C2), GLO1 (138750), centromere. On the basis of 4 overlapping cosmid clones, Carroll et al. (1984) aligned 4 human complement genes, which are known to map between HLA-D and HLA-B. The C2 and BF genes are about 30 kb from the two C4 genes, C4A (120810) and C4B (120820), which are separated from each other by about 10 kb. Campbell (1987) reviewed the molecular genetics of C2 and factor B. The 2 genes are closely linked; the 3-prime end of the C2 gene lies only 421 basepairs from the 5-prime end of the factor B gene. </p><p>Abbal et al. (1987) studied 3 independent families with the same new BF variant. Assuming that these rare variants derived from single mutations and that the differences in haplotypes bearing said variants must be the result of a minimum of 'historic' crossovers, the order is probably HLA-B, C2, BF, C4A, 21-OHA, C4B, 21-OHB, DR. </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>Alper et al. (1972) found evidence of extensive polymorphism of serum glycine-rich beta-glycoprotein (GBG) in humans. At least 5 components were demonstrated on electrophoresis. It was concluded that 4 alleles exist at a locus then designated GB. GB(S) and GB(F) were found in all populations but in different proportions. The common alleles, GB(S) and GB(F), have a frequency of about 0.73 and 0.25, respectively (Allen, 1974). </p><p>Raum et al. (1979) found a rare genetic type of properdin factor B (F1) in 22.6% of patients with insulin-dependent diabetes but in only 1.9% of the general population. If this is an indication of linkage disequilibrium, not association, as the authors suggested, only some populations should show the relationship. </p><p>Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).</p><p><strong><em>Complement Factor B Deficiency</em></strong></p><p>
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|
In a woman with complement factor B deficiency (CFBD; 615561), Slade et al. (2013) identified compound heterozygous truncating mutations in the CFB gene (138470.0007 and 138470.0008). The patient had recurrent systemic infections with encapsulated bacteria since early childhood. Laboratory studies showed normal immunoglobulins and lymphocytes, but functional ELISA showed that the alternative complement pathway was inactive. The defect was not complemented by factor B-depleted serum, and factor B was undetectable by radial immunodiffusion. The mutations were found by genome sequencing of the CFB gene and segregated with the disorder in the family. Complement studies in the parents showed normal activity of the alternative complement pathway. The findings illustrated the role of complement factor B in the protection against infection with encapsulated organisms. </p><p><strong><em>Age-Related Macular Degeneration</em></strong></p><p>
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|
Because CFH (134370) haplotypes are associated with age-related macular degeneration (ARMD; see 603075), Gold et al. (2006) hypothesized that the same may be true for activators of the same pathway, such as complement factor B. Gold et al. (2006) screened the BF and C2 genes for genetic variation in 2 independent cohorts comprising approximately 900 individuals with ARMD and approximately 400 matched controls. Haplotype analyses identified a statistically significant common risk haplotype and 2 protective haplotypes. Haplotype H10, consisting of the L9H variant (138470.0003) of BF and the E318D variant (613927.0004) of C2, and haplotype H7, consisting of the variant in intron 10 (613927.0005) of C2 and the R32Q variant (138470.0004) of BF, conferred a significantly reduced risk of ARMD (OR = 0.36 and 0.45, respectively). Combined analysis of the C2/BF haplotypes and CFH variants showed that variation in the 2 loci can predict the clinical outcome in 74% of affected individuals and 56% of controls. </p><p>Thakkinstian et al. (2012) reviewed the association of C2/CFB gene polymorphisms with ARMD by pooling data from 19 studies published between 2006 and 2011 for 4 polymorphisms: rs9332739 (613927.0004) and rs547154 (613927.0005) in the C2 gene and rs4151667 (138470.0003) and rs641153 (138470.0004) in the CFB gene. Pooled minor allele frequencies for all 4 SNPs were between 4.7% and 9.6%, except for an Indian population in which the C allele at rs9332739 was the major allele. For the C2 polymorphisms, the minor C allele at rs9332739 and the minor T allele at rs547154 carried estimated relative risks (odds ratios) of 0.55 (95% confidence interval (CI) 0.46, 0.65) and 0.47 (95% CI 0.39, 0.57), respectively. For the CFB polymorphisms, the minor A alleles at rs4151667 and rs614153 carried estimated risks of 0.54 (95% CI 0.45, 0.64) and 0.41 (95% CI 0.34, 0.51), respectively. These allele effects contributed to an absolute lowering of the risk of all AMD in Caucasian populations by 2.0-6.0%. </p><p><strong><em>Susceptibility to Atypical Hemolytic Uremic Syndrome 4</em></strong></p><p>
|
|
In affected members of a large Spanish kindred with atypical hemolytic uremic syndrome-4 (AHUS4; 612924), Goicoechea de Jorge et al. (2007) identified a heterozygous mutation in the CFB gene (F286L; 138470.0005). Functional expression studies showed that the mutant CFB resulted in increased formation of the C3bBb complex, indicating a gain-of-function effect that enhanced the generation of C3b. Goicoechea de Jorge et al. (2007) noted that the family showed incomplete penetrance for the F286L mutation. Further genetic analysis showed that all members with the F286L mutation who developed aHUS also carried the at-risk MCP (120920) haplotype described by Esparza-Gordillo et al. (2005). Goicoechea de Jorge et al. (2007) identified a second heterozygous mutation in the CFB gene (K323E; 138470.0006) in another unrelated patient with aHUS; this patient also carried the MCP haplotype. These findings indicated that the aHUS phenotype results from multiple different genetic hits in the complement pathway, and that persistent activation of the alternative pathway can also result in aHUS. </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>Nomenclature</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>Alper et al. (1973) showed that the glycine-rich beta-glycoprotein (GBG) in humans is the same as factor B in the properdin system, also known as C3 proaccelerator. Because of the tight linkage of GBG and HLA and the general characteristics of GBG, homology to the mouse S gene was considered possible. The mouse S gene determines a polymorphic serum protein that lies in the midst of the H-2 region. In 1974, at the Second International Congress of Immunology, the WHO nomenclature committee on complement proposed that this be called factor B. Other names have included properdin factor B and C3 proactivator. </p><p>The WHO-IUIS Nomenclature Sub-committee (1993) made recommendations on nomenclature for complement factor B.</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>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>Taube et al. (2006) studied mice deficient in C4, a critical component of the classical complement pathway, or in Cfb, an essential protein in the alternative complement pathway. Following ovalbumin sensitization and allergen challenge, Cfb-deficient mice, but not C4-deficient mice, showed significantly lower airway hyperresponsiveness (AHR) and less airway inflammation than wildtype mice. Goblet cell hyperplasia and Il4 (147780), Il5 (147850), and Il13 (147683) levels in bronchoalveolar lavage fluid were significantly reduced in Cfb-deficient mice compared with C4-deficient and wildtype mice. Development of AHR and airway inflammation could be restored in Cfb-deficient mice with prior intranasal administration of Cfb. Administration of anti-Cfb to sensitized mice reduced AHR development and airway inflammation. Taube et al. (2006) concluded that complement activation through the alternative pathway after allergen exposure in sensitized hosts is critical to development of AHR and airway inflammation. </p><p>Bullous pemphigoid (BP) is a subepidermal blistering skin disorder of the elderly associated with autoantibodies directed against the hemidesmosomal proteins BP180 (COL17A1; 113811) and BP230 (DST; 113810). Nelson et al. (2006) found that mice deficient in the alternative pathway complement factor B had delayed and less intense subepidermal blisters following challenge with anti-BP180. Mice lacking the classical complement component C4 were resistant to experimental BP and had significantly reduced mast cell degranulation and neutrophil skin infiltration. BP disease in C4-deficient mice could be restored by treatment with a mast cell degranulating agent or by injection of the neutrophil chemoattractant IL8 (146930). Nelson et al. (2006) concluded that complement activation via the alternative and classical pathways is necessary for blister formation in experimental BP. </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>8 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 FACTOR B FAST-SLOW POLYMORPHISM</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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BF*FA/S
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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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CFB, ARG8GLN
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<br />
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SNP: rs641153,
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gnomAD: rs641153,
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ClinVar: RCV000017453, RCV000017454, RCV000017458, RCV000259759, RCV000281261, RCV000319518, RCV000455762, RCV001154197, RCV001515636, RCV002293980, RCV002504800
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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>The molecular basis for allelic variation at the factor B locus, i.e., the 2 common alleles F and S, has been defined; a G-to-A transition in codon 8 changes the amino acid from arginine in the S allele to glutamine in the F allele (Campbell, 1987). This fits with the difference in electrophoretic mobility of the 2 variants, with the F allele carrying a less positive charge and thus moving more toward the anode. Mejia et al. (1994) presented the complete cDNA sequence of the BF*S allele. BF*S is the most common allele. The BF*S, BF*FA, and BF*FB have a combined frequency in excess of 0.95. Davrinche et al. (1990) showed that these differ from one another at the codon for the seventh amino acid: CAG (gln) in BF*FA, TGG (trp) in BF*FB, and CGG (arg) in BF*S. The changes involve nucleotides 94 and 95 (see fig. 1 of Mejia et al., 1994). (Codon 8 in the cDNA corresponds to amino acid 7 in the protein.) </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0002 FACTOR B FAST-SLOW POLYMORPHISM</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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BF*FB/S
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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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CFB, ARG8TRP
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<br />
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SNP: rs12614,
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gnomAD: rs12614,
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ClinVar: RCV000017455, RCV000293644, RCV000324324, RCV000324934, RCV001154196, RCV001510498, RCV002293981, RCV002496388, RCV004549373
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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>See 138470.0001.</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>.0003 MACULAR DEGENERATION, AGE-RELATED, 14, REDUCED RISK OF</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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CFB, LEU9HIS
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<br />
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SNP: rs4151667,
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gnomAD: rs4151667,
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ClinVar: RCV000017457, RCV000264554, RCV000288622, RCV000385220, RCV000454952, RCV001154195, RCV001516300, RCV002490378, RCV004549374
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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>Gold et al. (2006) identified a 26T-A transversion in the CFB gene, resulting in a leu9-to-his variant (L9H; rs4151667). In approximately 900 individuals with ARMD (ARMD14; 615489) and approximately 400 controls, they found a significant association between haplotype H10, consisting of the L9H variant and the E318D variant (613927.0004) of the C2 gene, and a reduced risk of ARMD. </p><p>Maller et al. (2006) replicated the association of the L9H variant of CFB and the E318D variant of C2 with risk of ARMD, noting that although this pair of SNPs has minor alleles that confer an equivalent protective effect, they found these effects to be independent and distinct. </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>.0004 MACULAR DEGENERATION, AGE-RELATED, 14, REDUCED RISK OF</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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CFB, ARG32GLN
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<br />
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SNP: rs641153,
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gnomAD: rs641153,
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ClinVar: RCV000017453, RCV000017454, RCV000017458, RCV000259759, RCV000281261, RCV000319518, RCV000455762, RCV001154197, RCV001515636, RCV002293980, RCV002504800
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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>Gold et al. (2006) identified a 95G-A transition in the CFB gene, resulting in an arg32-to-gln variant (R32Q; rs641153). In approximately 900 individuals with ARMD (ARMD14; 615489) and approximately 400 controls, they found a significant association between haplotype H7, consisting of the R32Q variant and the intron 10 variant (613927.0005) of the C2 gene, and a reduced risk of ARMD. </p><p>Maller et al. (2006) replicated the association of the R32Q variant of CFB and the intron 10 variant of C2 with risk of ARMD, noting that although this pair of SNPs has minor alleles that confer an equivalent protective effect, they found these effects to be independent and distinct. </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>.0005 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4</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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CFB, PHE286LEU
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<br />
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SNP: rs117905900,
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gnomAD: rs117905900,
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ClinVar: RCV000017459
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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 affected members of a large Spanish kindred with atypical hemolytic uremic syndrome-4 (AHUS4; 612924), Goicoechea de Jorge et al. (2007) identified a heterozygous 858C-G transversion in exon 6 of the CFB gene, resulting in a phe286-to-leu (F286L) substitution in the von Willebrand type A domain. The family had originally been reported by Carreras et al. (1981). The mutation segregated with low levels of C3 (120700) in all individuals with AHUS. The mutation was not found in 100 control individuals. Functional expression studies showed that the mutant CFB resulted in increased formation of the C3bBb complex, indicating a gain-of-function effect that enhanced the generation of C3b. This explains the increased levels of CFB cleavage and C3 consumption found in mutation carriers. However, the mutant protein also showed increased decay, suggesting that the gain-of-function effect occurs only when the supply of CFB is unlimited. Goicoechea de Jorge et al. (2007) noted that the family showed incomplete penetrance for the F286L mutation. Further genetic analysis showed that all members with the F286L mutation who developed aHUS also carried the at-risk MCP (120920) haplotype described by Esparza-Gordillo et al. (2005). These findings again indicated that the aHUS phenotype can result from multiple hits in the complement pathway. </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>.0006 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4</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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CFB, LYS323GLU
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<br />
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SNP: rs121909748,
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ClinVar: RCV000017460
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with AHUS4 (612924), Goicoechea de Jorge et al. (2007) identified a de novo heterozygous 967A-G transition in exon 7 of the CFB gene, resulting in a lys323-to-glu (K323E) substitution in the von Willebrand type A domain. The mutation was not found in 100 control individuals. Functional expression studies showed that the mutant protein was less resistant to accelerated decay by DAF (125240) and factor H (CFH; 134370). The patient was also found to carry the at-risk MCP (120920) haplotype described by Esparza-Gordillo et al. (2005). These findings again indicated that the aHUS phenotype can result from multiple hits in the complement pathway. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 COMPLEMENT FACTOR B DEFICIENCY (1 family)</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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CFB, GLN256TER
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<br />
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SNP: rs398123065,
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gnomAD: rs398123065,
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ClinVar: RCV000077869, RCV003556158
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 32-year-old woman, born of unrelated parents of English and Scottish origin, with complement factor B deficiency (CFBD; 615561) manifest as recurrent systemic infections with encapsulated bacteria since early childhood, Slade et al. (2013) identified compound heterozygous mutations in the CFB gene: a c.766C-T transition in exon 6, resulting in a gln256-to-ter (Q256X) substitution, and a 4-bp deletion (c.1894_1987delTTTG; 138470.0008) in exon 15, resulting in a frameshift and premature termination (Phe632CysfsTer8). Laboratory studies showed normal immunoglobulins and lymphocytes, but functional ELISA showed that the alternative complement pathway was inactive. The defect was not complemented by factor B-depleted serum, and factor B was undetectable by radial immunodiffusion. The mutations were found by genome sequencing of the CFB gene and segregated with the disorder in the family. Complement studies in the parents showed normal activity of the alternative complement pathway. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 COMPLEMENT FACTOR B DEFICIENCY (1 family)</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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CFB, 4-BP DEL, 1894TTTG
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<br />
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SNP: rs398124644,
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ClinVar: RCV000077870
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the 4-bp deletion (c.1894_1987delTTTG) in exon 15 of the CFB gene that was found in compound heterozygous state in a patient with complement factor B deficiency by Slade et al. (2013), see 138470.0007. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
|
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</h4>
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<span class="mim-text-font">
|
|
Agarwal et al. (1976); Alper (1976); Benkmann et al. (1980); Bertrams
|
|
and Mauff (1985); David et al. (1983); Dornan et al. (1980); Dunham
|
|
et al. (1987); Dykes et al. (1983); Malavasi et al. (1981); Nerl and
|
|
O'Neill (1982); Ohayon et al. (1980); Raum et al. (1980); Raum et al.
|
|
(1979); Raum et al. (1984); Rittner et al. (1976); Wyatt et al.
|
|
(1981); Ziegler and Alper (1975)
|
|
</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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Abbal, M., Moennarid, C., Cambon-Thomsen, A., Tkaczuk, J., Ohayon, E., Mauff, G.
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<strong>A new BF variant (BF S11) with information for orientation of MHC class III genes.</strong>
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Immunogenetics 26: 320-322, 1987.
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[PubMed: 3653945]
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[Full Text: https://doi.org/10.1007/BF00346532]
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<p class="mim-text-font">
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Agarwal, D. P., Goedde, H. W., Benkmann, H.-G., Flatz, G., Rahimi, A. G., Kaifie, A., Delbruck, H.
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<strong>Genetic polymorphism of C3 and serum levels of immunoglobulins, C3, C4 components of complement and C3-proactivator in four different populations of Afghanistan.</strong>
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Hum. Genet. 33: 67-72, 1976.
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Albert, E. D., Rittner, C., Grosse-Wilde, H., Netzel, B., Scholz, S.
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<strong>Recombination frequency and linkage disequilibrium between HL-A and Bf. In: Kissmeyer-Nielsen, F.: Histocompatibility Testing 1975.</strong>
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Copenhagen: Munksgaard (pub.) 1975. Pp. 941-944.
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Allen, F. H., Jr.
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<strong>Linkage of HL-A and GBG.</strong>
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Vox Sang. 27: 382-384, 1974.
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[PubMed: 4414487]
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[Full Text: https://doi.org/10.1111/j.1423-0410.1974.tb02433.x]
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Alper, C. A., Boenisch, T., Watson, L.
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<strong>Genetic polymorphism in human glycine-rich-beta glycoprotein.</strong>
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J. Exp. Med. 135: 68-80, 1972.
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Alper, C. A., Goodkofsky, I., Lepow, I. H.
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<strong>The relationship of glycine-rich beta-glycoprotein to factor B in the properdin system and to cobra-binding protein of human serum.</strong>
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J. Exp. Med. 137: 424-437, 1973.
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[PubMed: 4734403]
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Alper, C. A.
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J. Exp. Med. 144: 1111-1115, 1976.
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[PubMed: 978135]
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[Full Text: https://doi.org/10.1084/jem.144.4.1111]
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Arnason, A., Larsen, B., Marshall, W. H., Edwards, J. H., Mackintosh, P., Olaisen, B., Teisberg, P.
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<strong>Very close linkage between HLA-B and Bf inferred from allelic association.</strong>
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Nature 268: 527-528, 1977.
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[PubMed: 889587]
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Bender, K., Mayerova, A., Frank, R., Hiller, C., Wienker, T.
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<strong>Haplotype analysis of the linkage group HLA-A: HLA-B: Bf and its bearing on the interpretation of the linkage disequilibrium.</strong>
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Hum. Genet. 36: 191-196, 1977.
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[PubMed: 858626]
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<strong>Properdin factor B polymorphism in Afghanistan.</strong>
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Hum. Hered. 30: 39-43, 1980.
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Bertrams, J., Mauff, G.
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<strong>Another family with a silent allele of properdin factor B polymorphism (BF*QO).</strong>
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Hum. Genet. 70: 321-323, 1985.
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[PubMed: 3848405]
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Campbell, R. D., Porter, R. R.
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JAMA 245: 602-604, 1981.
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Carroll, M. C., Campbell, R. D., Bentley, D. R., Porter, R. R.
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Nature 307: 237-241, 1984.
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Christie, D. L., Gagnon, J.
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Biochem. J. 209: 61-70, 1983.
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Dornan, J., Allan, P., Noel, E. P., Larsen, B., Farid, N. R.
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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.
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<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>
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Forneris, F., Ricklin, D., Wu, J., Tzekou, A., Wallace, R. S., Lambris, J. D., Gros, P.
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<strong>Structures of C3b in complex with factors B and D give insight into complement convertase formation.</strong>
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<p class="mim-text-font">
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Goicoechea de Jorge, E., Harris, C. L., Esparza-Gordillo, J., Carreras, L., Arranz, E. A., Garrido, C. A., Lopez-Trascasa, M., Sanchez-Corral, P., Morgan, B. P., Rodriguez de Cordoba, S.
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<strong>Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.</strong>
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<p class="mim-text-font">
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Gold, B., Merriam, J. E., Zernant, J., Hancox, L. S., Taiber, A. J., Gehrs, K., Cramer, K., Neel, J., Bergeron, J., Barile, G. R., Smith, R. T., AMD Genetics Clinical Study Group, Hageman, G. S., Dean, M., Allikmets, R.
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<strong>Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.</strong>
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<p class="mim-text-font">
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|
Malavasi, F., Olivetti, E., Milanese, C., Carbonara, A. O.
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<strong>Properdin factor B polymorphism in continental Italy and Sardinia.</strong>
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Hum. Genet. 58: 209-212, 1981.
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[PubMed: 6912819]
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<p class="mim-text-font">
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|
Maller, J., George, S., Purcell, S., Fagerness, J., Altshuler, D., Daly, M. J., Seddon, J. M.
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[PubMed: 16936732]
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