3773 lines
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Entry
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- *608968 - MAF bZIP TRANSCRIPTION FACTOR B; MAFB
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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">*608968</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li 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/608968">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div 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=ENSG00000204103;t=ENST00000373313" 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=9935" 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=608968" 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=ENSG00000204103;t=ENST00000373313" 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_005461" 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_005461" 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=608968" 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=07129&isoform_id=07129_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/MAFB" 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/4809134,20381364,21759268,22477471,23308699,119596406,193786520" 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/Q9Y5Q3" 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=9935" 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=ENSG00000204103;t=ENST00000373313" 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=MAFB" 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=MAFB" 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+9935" 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/MAFB" 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:9935" 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/9935" 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=chr20&hgg_gene=ENST00000373313.3&hgg_start=40685848&hgg_end=40689236&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6408" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608968[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=608968[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/ENSG00000204103" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=MAFB" 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=MAFB" 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=MAFB&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/PA30535" 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:6408" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0000964.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:104555" 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/MAFB#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:104555" 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/9935/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=9935" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00077521;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-010605-4" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9935" 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=MAFB&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 766992008<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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608968
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MAF bZIP TRANSCRIPTION FACTOR B; MAFB
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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V-MAF MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN B<br />
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KRML, MOUSE, HOMOLOG OF; KRML
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MAFB" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MAFB</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/20/289?start=-3&limit=10&highlight=289">20q12</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr20:40685848-40689236&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'})">20:40,685,848-40,689,236</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
|
|
Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
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<a href="/clinicalSynopsis/table?mimNumber=617041,166300" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
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</span>
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="2">
|
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<span class="mim-font">
|
|
<a href="/geneMap/20/289?start=-3&limit=10&highlight=289">
|
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20q12
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Duane retraction syndrome 3
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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|
<a href="/entry/617041"> 617041 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
Multicentric carpotarsal osteolysis syndrome
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/166300"> 166300 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/608968" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>MAF family members, such as MAFB, are basic region/leucine zipper transcription factors that affect transcription positively or negatively, depending on their partner proteins and the context of the target promoter (<a href="#6" class="mim-tip-reference" title="Wang, P. W., Eisenbart, J. D., Cordes, S. P., Barsh, G. S., Stoffel, M., Le Beau, M. M. <strong>Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias.</strong> Genomics 59: 275-281, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10444328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10444328</a>] [<a href="https://doi.org/10.1006/geno.1999.5884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10444328">Wang et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10444328" 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="Wang, P. W., Eisenbart, J. D., Cordes, S. P., Barsh, G. S., Stoffel, M., Le Beau, M. M. <strong>Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias.</strong> Genomics 59: 275-281, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10444328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10444328</a>] [<a href="https://doi.org/10.1006/geno.1999.5884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10444328">Wang et al. (1999)</a> identified the MAFB gene, which they called KRML, within a region of chromosome 20 deleted in malignant myeloid disorders. By PCR of genomic DNA, followed by screening a bone marrow cDNA library and EST database analysis, they obtained 3 full-length cDNAs that differ only in their utilization of alternate polyadenylation signals. The common deduced protein contains 323 amino acids and has a calculated molecular mass of 35.8 kD. MAFB has a pro-ser-thr-rich acidic transcription activation domain at its N terminus, followed by 2 histidine repeats, an extended homology region, a basic DNA-binding domain, and a C-terminal leucine zipper domain containing hydrophobic residues that form the zipper heptad repeats (LLLLYL). MAFB shares 84% amino acid identity with its murine homolog. Northern blot analysis detected ubiquitous expression of MAFB. A 3.0-kb transcript was expressed in all tissues analyzed, and a 1.8-kb transcript was expressed predominantly in bone marrow and skeletal muscle, with low-level expression in heart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10444328" 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="mim-changed mim-change"><p><a href="#6" class="mim-tip-reference" title="Wang, P. W., Eisenbart, J. D., Cordes, S. P., Barsh, G. S., Stoffel, M., Le Beau, M. M. <strong>Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias.</strong> Genomics 59: 275-281, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10444328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10444328</a>] [<a href="https://doi.org/10.1006/geno.1999.5884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10444328">Wang et al. (1999)</a> determined that the MAFB gene has a single exon and spans about 3 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10444328" 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></div>
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<p>By sequence analysis, <a href="#6" class="mim-tip-reference" title="Wang, P. W., Eisenbart, J. D., Cordes, S. P., Barsh, G. S., Stoffel, M., Le Beau, M. M. <strong>Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias.</strong> Genomics 59: 275-281, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10444328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10444328</a>] [<a href="https://doi.org/10.1006/geno.1999.5884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10444328">Wang et al. (1999)</a> mapped the MAFB gene to chromosome 20q11.2-q13.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10444328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a yeast 2-hybrid screen and in vitro protein-binding assays, <a href="#5" class="mim-tip-reference" title="Petersen, H. H., Hilpert, J., Jacobsen, C., Lauwers, A., Roebroek, A. J. M., Willnow, T. E. <strong>Low-density lipoprotein receptor-related protein interacts with MafB, a regulator of hindbrain development.</strong> FEBS Lett. 565: 23-27, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15135046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15135046</a>] [<a href="https://doi.org/10.1016/j.febslet.2004.03.069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15135046">Petersen et al. (2004)</a> demonstrated that human MAFB interacted directly with the intracellular domain (ICD) of mouse Lrp1 (<a href="/entry/107770">107770</a>). Mutation analysis indicated that the leucine zipper motif of MAFB was required for this interaction. Murine Mafb and the isolated ICD colocalized in the nucleus of cotransfected human embryonic kidney cells. The ICD also localized in the cytoplasm. MAFB stimulated expression of a reporter gene that was constructed with 3 upstream copies of the Maf recognition element (MARE) followed by a TATA-like promoter. Cotransfection of the Lrp1 ICD with MAFB reduced the transactivation potential of MAFB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15135046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Garzon, R., Pichiorri, F., Palumbo, T., Iuliano, R., Cimmino, A., Aqeilan, R., Volinia, S., Bhatt, D., Alder, H., Marcucci, G., Calin, G. A., Liu, C.-G., Bloomfield, C. D., Andreeff, M., Croce, C. M. <strong>MicroRNA fingerprints during human megakaryocytopoiesis.</strong> Proc. Nat. Acad. Sci. 103: 5078-5083, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16549775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16549775</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16549775[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.0600587103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16549775">Garzon et al. (2006)</a> identified MAFB as a putative target of MIRN130A (<a href="/entry/610175">610175</a>) and, using RT-PCR and Western blot analysis, found that MAFB mRNA and protein were upregulated during megakaryocytic differentiation. Transfection of a human megakaryocytic leukemia cell line with MIRN130A precursor reduced expression of a reporter gene containing the 3-prime UTR of MAFB, and overexpression of MIRN130A in a myelogenous leukemia cell line reduced MAFB protein levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16549775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Aziz, A., Soucie, E., Sarrazin, S., Sieweke, M. H. <strong>MafB/c-Maf deficiency enables self-renewal of differentiated functional macrophages.</strong> Science 326: 867-871, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19892988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19892988</a>] [<a href="https://doi.org/10.1126/science.1176056" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19892988">Aziz et al. (2009)</a> reported that combined deficiency for the transcription factors MafB and c-Maf enables extended expansion of mature monocytes and macrophages in culture without loss of differentiated phenotype and function. Upon transplantation, the expanded cells are nontumorigenic and contribute to functional macrophage populations in vivo. Small hairpin RNA inactivation showed that continuous proliferation of MafB/c-Maf-deficient macrophages requires concomitant upregulation of 2 pluripotent stem cell-inducing factors, KLF4 (<a href="/entry/602253">602253</a>) and c-Myc (<a href="/entry/190080">190080</a>). <a href="#2" class="mim-tip-reference" title="Aziz, A., Soucie, E., Sarrazin, S., Sieweke, M. H. <strong>MafB/c-Maf deficiency enables self-renewal of differentiated functional macrophages.</strong> Science 326: 867-871, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19892988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19892988</a>] [<a href="https://doi.org/10.1126/science.1176056" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19892988">Aziz et al. (2009)</a> concluded that MafB/c-Maf deficiency renders self-renewal compatible with terminal differentiation. It thus appears possible to amplify functional differentiated cells without malignant transformation or stem cell intermediates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19892988" 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><strong><em>Multicentric Carpotarsal Osteolysis Syndrome</em></strong></p><p>
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In 11 simplex cases and affected individuals from 2 pedigrees with multicentric carpotarsal osteolysis syndrome (MCTO; <a href="/entry/166300">166300</a>), <a href="#8" class="mim-tip-reference" title="Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A. <strong>Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.</strong> Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22387013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22387013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22387013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.01.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22387013">Zankl et al. (2012)</a> identified heterozygosity for missense mutations in the MAFB gene (see, e.g., <a href="#0001">608968.0001</a>-<a href="#0006">608968.0006</a>). The mutations were clustered within a 51-bp region of the single exon of MAFB. All but the 3 youngest simplex cases had renal disease, and 5 patients had undergone renal transplantation; however, because affected adults from the 2 families did not manifest renal dysfunction, <a href="#8" class="mim-tip-reference" title="Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A. <strong>Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.</strong> Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22387013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22387013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22387013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.01.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22387013">Zankl et al. (2012)</a> concluded that MAFB mutations are also responsible for MCTO in the absence of renal disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22387013" 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>Duane Retraction Syndrome 3 with or without Deafness</em></strong></p><p>
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In affected members of a family (family FA) with Duane retraction syndrome and hearing loss (DURS3; <a href="/entry/617041">617041</a>), <a href="#4" class="mim-tip-reference" title="Park, J. G., Tischfield, M. A., Nugent, A. A., Cheng, L., Di Gioia, S. A., Chan, W.-M., Maconachie, G., Bosley, T. M., Summers, C. G., Hunter, D. G., Robson, C. D., Gottlob, I., Engle, E. C. <strong>Loss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defects.</strong> Am. J. Hum. Genet. 98: 1220-1227, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27181683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27181683</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27181683[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.03.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27181683">Park et al. (2016)</a> screened the MAFB gene and identified heterozygosity for a 1-bp deletion (<a href="#0007">608968.0007</a>). Screening of MAFP in additional probands with DURS identified 2 more DURS families with heterozygous 1-bp deletions (<a href="#0008">608968.0008</a>-<a href="#0009">608968.0009</a>) and 1 with a heterozygous full gene deletion (<a href="#0010">608968.0010</a>). None of the affected individuals in the 3 additional families had hearing loss. Functional analysis suggested a threshold model for variable loss of MAFB function, with the mutation in family FA causing a dominant-negative effect, resulting in less than 50% protein function and causing both DURS and deafness, whereas the heterozygous loss-of-function mutations in the other 3 families with isolated DURS showed 50% protein function. These results were consistent with the phenotypes observed in Mafb +/- and knockout mice (see ANIMAL MODEL). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27181683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the MAFB gene and susceptibility to nonsyndromic cleft lip/palate, see <a href="/entry/119530">119530</a>.</p>
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<p><a href="#6" class="mim-tip-reference" title="Wang, P. W., Eisenbart, J. D., Cordes, S. P., Barsh, G. S., Stoffel, M., Le Beau, M. M. <strong>Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias.</strong> Genomics 59: 275-281, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10444328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10444328</a>] [<a href="https://doi.org/10.1006/geno.1999.5884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10444328">Wang et al. (1999)</a> noted that mutations in the murine Mafb gene are responsible for the mouse mutant Kreisler (kr), a developmental defect of the hindbrain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10444328" 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="Artner, I., Blanchi, B., Raum, J. C., Guo, M., Kaneko, T., Cordes, S., Sieweke, M., Stein, R. <strong>MafB is required for islet beta cell maturation.</strong> Proc. Nat. Acad. Sci. 104: 3853-3858, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17360442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17360442</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17360442[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.0700013104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17360442">Artner et al. (2007)</a> stated that homozygous Mafb-mutant mice die at birth: kr mice of renal failure and Mafb -/- mice of central apnea. They observed that Mafb -/- mouse embryos had reduced numbers of pancreatic alpha and beta cells, whereas the total number of endocrine cells was unchanged. Production of alpha cells was delayed until embryonic day 13.5 in mutant embryos and coincident with the onset of Mafa (<a href="/entry/610303">610303</a>) expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17360442" 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="#7" class="mim-tip-reference" title="Yu, W.-M., Appler, J. M., Kim, Y.-H., Nishitani, A. M., Holt, J. R., Goodrich, L. V. <strong>A Gata3-Mafb transcriptional network directs post-synaptic differentiation in synapses specialized for hearing.</strong> eLife 2: e01341, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24327562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24327562</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24327562[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/10.7554/eLife.01341" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24327562">Yu et al. (2013)</a> developed Mafb conditional knockout (CKO) mice to avoid the early lethality and inner ear malformations of Mafb-null mice. They found that Mafb was expressed in spiral ganglion neurons (SGNs) and that expression peaked during synaptogenesis in mice. Analysis of Mafb CKO mice showed that Mafb was not required for the initial production or differentiation of SGNs. Instead, Mafb was essential for development of the auditory afferent synapse, as Mafb acted in SGN afferents to specify postsynaptic differentiation of ribbon synapses. Despite normal intrinsic membrane and firing properties in SGNs, SGNs failed to develop normal postsynaptic densities (PSDs) in Mafb CKO mice, leading to reduced synapse number and impaired auditory responses. In contrast, exogenous expression of Mafb in SGNs accelerated afferent synapse development in mice. Further analysis using Gata3 (<a href="/entry/131320">131320</a>) CKO mice showed that Mafb acted downstream of Gata3 in a transcriptional cascade that guided SGN development and ensured emergence of cell type-specific features critical for the sense of hearing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24327562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Park, J. G., Tischfield, M. A., Nugent, A. A., Cheng, L., Di Gioia, S. A., Chan, W.-M., Maconachie, G., Bosley, T. M., Summers, C. G., Hunter, D. G., Robson, C. D., Gottlob, I., Engle, E. C. <strong>Loss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defects.</strong> Am. J. Hum. Genet. 98: 1220-1227, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27181683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27181683</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27181683[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.03.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27181683">Park et al. (2016)</a> observed that at embryonic day 11.5 (E11.5), Mafb +/- mice had hypoplastic abducens nerves, whereas Mafb -/- mice showed severe malformations of the hindbrain and as a result were missing abducens nerves and displayed fusion of the glossopharyngeal and vagus nerves. Using an orbital dissection technique to visualize the developing cranial nerves and extraocular muscles in mouse embryos, <a href="#4" class="mim-tip-reference" title="Park, J. G., Tischfield, M. A., Nugent, A. A., Cheng, L., Di Gioia, S. A., Chan, W.-M., Maconachie, G., Bosley, T. M., Summers, C. G., Hunter, D. G., Robson, C. D., Gottlob, I., Engle, E. C. <strong>Loss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defects.</strong> Am. J. Hum. Genet. 98: 1220-1227, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27181683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27181683</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27181683[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.03.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27181683">Park et al. (2016)</a> observed that by E12.5, the abducens nerve was present in the orbit and contacted the developing lateral rectus (LR) muscle in wildtype embryos. In Mafb +/- embryos, however, a hypoplastic abducens nerve contacted the developing LR muscle, and aberrant branches of the oculomotor nerve began to form in the direction of the LR muscle and retractor bulbi (RB) muscle. In Mafb -/- embryos, the abducens nerve was absent, and an aberrant branch of the oculomotor nerve formed and contacted the developing LR muscle along a trajectory similar to that of the wildtype abducens nerve, whereas other aberrant branches developed and contacted the RB muscle. By E16.5, wildtype embryos had developed the adult configuration of extraocular muscles and cranial nerves, whereas in Mafb +/- embryos, the abducens nerve remained hypoplastic in comparison to wildtype but provided some innervation to the LR muscle, and in Mafb -/- embryos, the abducens nerve was absent and provided no innervation to the LR muscle. In both heterozygous and null embryos, the LR muscle received innervation from aberrant oculomotor nerve branches. <a href="#4" class="mim-tip-reference" title="Park, J. G., Tischfield, M. A., Nugent, A. A., Cheng, L., Di Gioia, S. A., Chan, W.-M., Maconachie, G., Bosley, T. M., Summers, C. G., Hunter, D. G., Robson, C. D., Gottlob, I., Engle, E. C. <strong>Loss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defects.</strong> Am. J. Hum. Genet. 98: 1220-1227, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27181683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27181683</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27181683[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.03.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27181683">Park et al. (2016)</a> concluded that aberrant innervation of the LR muscle by the oculomotor nerve in Duane retraction syndrome-3 (DURS3; <a href="/entry/617041">617041</a>) arises as a secondary mechanism due to absent or reduced LR muscle innervation by the abducens nerve. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27181683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with multicentric carpotarsal osteolysis syndrome (MCTO; <a href="/entry/166300">166300</a>), <a href="#8" class="mim-tip-reference" title="Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A. <strong>Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.</strong> Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22387013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22387013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22387013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.01.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22387013">Zankl et al. (2012)</a> identified heterozygosity for a 184A-C transversion in the MAFB gene, resulting in a thr62-to-pro (T62P) substitution at a highly conserved residue within the N-terminal transcription activation domain. The mutation was not found in the unaffected parents or in 164 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22387013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with multicentric carpotarsal osteolysis syndrome (MCTO; <a href="/entry/166300">166300</a>), <a href="#8" class="mim-tip-reference" title="Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A. <strong>Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.</strong> Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22387013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22387013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22387013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.01.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22387013">Zankl et al. (2012)</a> identified heterozygosity for a 208T-G transversion in the MAFB gene, resulting in a ser70-to-ala (S70A) substitution at a highly conserved residue within the N-terminal transcription activation domain. The mutation was not found in the unaffected parents or in 164 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22387013" 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">rs387907006 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907006;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=rs387907006" 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=rs387907006" 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=RCV000023749 OR RCV001266648 OR RCV005089308" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023749, RCV001266648, RCV005089308" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023749...</a>
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<p>In 2 unrelated probands with multicentric carpotarsal osteolysis syndrome (MCTO; <a href="/entry/166300">166300</a>), <a href="#8" class="mim-tip-reference" title="Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A. <strong>Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.</strong> Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22387013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22387013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22387013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.01.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22387013">Zankl et al. (2012)</a> identified heterozygosity for a 209C-T transition in the MAFB gene, resulting in a ser70-to-leu (S70L) substitution at a highly conserved residue within the N-terminal transcription activation domain. The mutation was not found in the unaffected parents or in 164 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22387013" 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">rs387907007 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907007;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=rs387907007" 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=rs387907007" 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=RCV000023750" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023750" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023750</a>
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<p>In a 3-year-old patient and an unrelated 7-year-old patient with multicentric carpotarsal osteolysis syndrome (MCTO; <a href="/entry/166300">166300</a>), <a href="#8" class="mim-tip-reference" title="Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A. <strong>Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.</strong> Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22387013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22387013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22387013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.01.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22387013">Zankl et al. (2012)</a> identified heterozygosity for a 211C-T transition in the MAFB gene, resulting in a pro71-to-ser (P71S) substitution at a highly conserved residue within the N-terminal transcription activation domain. The mutation was not found in the unaffected parents or in 164 controls. Neither patient had evidence of renal disease as yet, although <a href="#8" class="mim-tip-reference" title="Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A. <strong>Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.</strong> Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22387013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22387013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22387013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.01.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22387013">Zankl et al. (2012)</a> noted that an older affected individual with a different mutation at the same residue (P71L; <a href="#0005">608968.0005</a>) had manifested renal disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22387013" 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">rs387907008 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907008;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=rs387907008" 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=rs387907008" 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=RCV000023751" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023751" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023751</a>
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<p>In a patient with multicentric carpotarsal osteolysis syndrome (MCTO; <a href="/entry/166300">166300</a>), <a href="#8" class="mim-tip-reference" title="Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A. <strong>Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.</strong> Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22387013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22387013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22387013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.01.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22387013">Zankl et al. (2012)</a> identified heterozygosity for a 212C-T transition in the MAFB gene, resulting in a pro71-to-leu (P71L) substitution at a highly conserved residue within the N-terminal transcription activation domain. The mutation was not found in the unaffected parents or in 164 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22387013" 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">rs730880014 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730880014;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=rs730880014" 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=rs730880014" 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=RCV000023752 OR RCV000724296" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023752, RCV000724296" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023752...</a>
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<p>In affected individuals from 2 unrelated multigenerational families with multicentric carpotarsal osteolysis syndrome (MCTO; <a href="/entry/166300">166300</a>), <a href="#8" class="mim-tip-reference" title="Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A. <strong>Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.</strong> Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22387013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22387013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22387013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.01.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22387013">Zankl et al. (2012)</a> identified heterozygosity for a 161C-T transition in the MAFB gene, resulting in a ser54-to-leu (S54L) substitution at a highly conserved residue within the N-terminal transcription activation domain. The mutation was not found in unaffected family members or in 164 controls. <a href="#8" class="mim-tip-reference" title="Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A. <strong>Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.</strong> Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22387013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22387013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22387013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.01.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22387013">Zankl et al. (2012)</a> noted that affected individuals from these 2 families, many of whom were adults, did not manifest renal disease, with the exception of 1 patient who 'at a very old age' developed renal dysfunction of unknown etiology; the authors therefore concluded that MAFB mutations are also responsible for MCTO in the absence of renal disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22387013" 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">rs879255275 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255275;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=rs879255275" 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=rs879255275" 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=RCV000235061 OR RCV000240679" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000235061, RCV000240679" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000235061...</a>
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<p>In 4 affected members of a family (family FA) with Duane retraction syndrome and hearing loss (DURS3; <a href="/entry/617041">617041</a>), <a href="#4" class="mim-tip-reference" title="Park, J. G., Tischfield, M. A., Nugent, A. A., Cheng, L., Di Gioia, S. A., Chan, W.-M., Maconachie, G., Bosley, T. M., Summers, C. G., Hunter, D. G., Robson, C. D., Gottlob, I., Engle, E. C. <strong>Loss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defects.</strong> Am. J. Hum. Genet. 98: 1220-1227, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27181683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27181683</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27181683[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.03.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27181683">Park et al. (2016)</a> identified heterozygosity for a 1-bp deletion (c.803delA, NM_005461.4) within the LZ of the MAFB gene, causing a frameshift predicted to result in premature termination codon (Asn268MetfsTer125), with retention of the EHR and BR domains in the mutant protein. Functional analysis by luciferase assay in transfected HEK293T cells showed no activity with the mutant protein alone, and reduced transcriptional activity of wildtype MAFB when coexpressed with the mutant, consistent with a dominant-negative mechanism. Affected members of this family exhibited phenotypic variability, having either type 1 or type 3 DURS, which was unilateral and right-sided in the mother and 2 affected sons, and bilateral in the affected granddaughter. The mother and 1 son also had right-sided deafness, whereas the granddaughter had bilateral deafness; her affected father did not report deafness, but had not undergone formal hearing testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27181683" 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">rs879255276 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255276;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=rs879255276" 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=rs879255276" 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=RCV000240729 OR RCV002051692" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000240729, RCV002051692" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000240729...</a>
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<p>In a male patient (family 0819) with bilateral type 1 Duane retraction syndrome (DURS3; <a href="/entry/617041">617041</a>), <a href="#4" class="mim-tip-reference" title="Park, J. G., Tischfield, M. A., Nugent, A. A., Cheng, L., Di Gioia, S. A., Chan, W.-M., Maconachie, G., Bosley, T. M., Summers, C. G., Hunter, D. G., Robson, C. D., Gottlob, I., Engle, E. C. <strong>Loss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defects.</strong> Am. J. Hum. Genet. 98: 1220-1227, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27181683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27181683</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27181683[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.03.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27181683">Park et al. (2016)</a> identified heterozygosity for a 1-bp deletion (c.440delG, NM_005461.4) between the N-terminal polyhistidine regions, causing a frameshift predicted to result in a premature termination codon (Gly147AlafsTer78). Functional analysis by luciferase assay in transfected HEK293T cells showed no activity with the mutant protein alone; there was no change in transcriptional activity of wildtype MAFB when coexpressed with the mutant, consistent with a loss-of-function mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27181683" 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">rs879255277 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255277;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=rs879255277" 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=rs879255277" 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=RCV000240779 OR RCV002051693" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000240779, RCV002051693" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000240779...</a>
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<p>In a father and 2 daughters (family PM) with bilateral Duane retraction syndrome (DURS3; <a href="/entry/617041">617041</a>), <a href="#4" class="mim-tip-reference" title="Park, J. G., Tischfield, M. A., Nugent, A. A., Cheng, L., Di Gioia, S. A., Chan, W.-M., Maconachie, G., Bosley, T. M., Summers, C. G., Hunter, D. G., Robson, C. D., Gottlob, I., Engle, E. C. <strong>Loss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defects.</strong> Am. J. Hum. Genet. 98: 1220-1227, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27181683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27181683</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27181683[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.03.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27181683">Park et al. (2016)</a> identified heterozygosity for a 1-bp deletion (c.644delA, NM_005461.4) at the beginning of the EHR domain, causing a frameshift predicted to result in a premature termination codon (Gln215ArgfsTer10). The father and 1 of the affected daughters had type 3 DURS on the right and type 1 DURS on the left, whereas the other daughter had type 3 DURS bilaterally. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27181683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000240735 OR RCV002051694" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000240735, RCV002051694" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000240735...</a>
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<p>In 6 affected members over 2 generations of a family (family N) with Duane retraction syndrome (DURS3; <a href="/entry/617041">617041</a>), <a href="#4" class="mim-tip-reference" title="Park, J. G., Tischfield, M. A., Nugent, A. A., Cheng, L., Di Gioia, S. A., Chan, W.-M., Maconachie, G., Bosley, T. M., Summers, C. G., Hunter, D. G., Robson, C. D., Gottlob, I., Engle, E. C. <strong>Loss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defects.</strong> Am. J. Hum. Genet. 98: 1220-1227, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27181683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27181683</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27181683[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.03.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27181683">Park et al. (2016)</a> identified heterozygosity for an approximately 600-kb deletion on chromosome 20, encompassing only the MAFB gene (GRCh37). Affected individuals had unilateral (right-sided) or bilateral DURS, which in 2 of the patients was reported to be type 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27181683" 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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Artner, I., Blanchi, B., Raum, J. C., Guo, M., Kaneko, T., Cordes, S., Sieweke, M., Stein, R.
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<strong>MafB is required for islet beta cell maturation.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17360442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17360442</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17360442[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=17360442" 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.0700013104" target="_blank">Full Text</a>]
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Aziz, A., Soucie, E., Sarrazin, S., Sieweke, M. H.
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<strong>MafB/c-Maf deficiency enables self-renewal of differentiated functional macrophages.</strong>
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Science 326: 867-871, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19892988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19892988</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19892988" 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.1176056" target="_blank">Full Text</a>]
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Garzon, R., Pichiorri, F., Palumbo, T., Iuliano, R., Cimmino, A., Aqeilan, R., Volinia, S., Bhatt, D., Alder, H., Marcucci, G., Calin, G. A., Liu, C.-G., Bloomfield, C. D., Andreeff, M., Croce, C. M.
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<strong>MicroRNA fingerprints during human megakaryocytopoiesis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16549775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16549775</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16549775[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=16549775" 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.0600587103" target="_blank">Full Text</a>]
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Park, J. G., Tischfield, M. A., Nugent, A. A., Cheng, L., Di Gioia, S. A., Chan, W.-M., Maconachie, G., Bosley, T. M., Summers, C. G., Hunter, D. G., Robson, C. D., Gottlob, I., Engle, E. C.
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<strong>Loss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defects.</strong>
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Am. J. Hum. Genet. 98: 1220-1227, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27181683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27181683</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27181683[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=27181683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2016.03.023" target="_blank">Full Text</a>]
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Petersen, H. H., Hilpert, J., Jacobsen, C., Lauwers, A., Roebroek, A. J. M., Willnow, T. E.
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<strong>Low-density lipoprotein receptor-related protein interacts with MafB, a regulator of hindbrain development.</strong>
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FEBS Lett. 565: 23-27, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15135046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15135046</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15135046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.febslet.2004.03.069" 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="6" class="mim-anchor"></a>
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<a id="Wang1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, P. W., Eisenbart, J. D., Cordes, S. P., Barsh, G. S., Stoffel, M., Le Beau, M. M.
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<strong>Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias.</strong>
|
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Genomics 59: 275-281, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10444328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10444328</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10444328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1999.5884" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Yu2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yu, W.-M., Appler, J. M., Kim, Y.-H., Nishitani, A. M., Holt, J. R., Goodrich, L. V.
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<strong>A Gata3-Mafb transcriptional network directs post-synaptic differentiation in synapses specialized for hearing.</strong>
|
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eLife 2: e01341, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24327562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24327562</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24327562[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=24327562" 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/10.7554/eLife.01341" 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="8" class="mim-anchor"></a>
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<a id="Zankl2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A.
|
|
<strong>Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.</strong>
|
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Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22387013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22387013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22387013[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=22387013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2012.01.003" 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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Bao Lige - updated : 05/18/2022
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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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Marla J. F. O'Neill - updated : 07/18/2016<br>Marla J. F. O'Neill - updated : 4/11/2012<br>Ada Hamosh - updated : 12/29/2009<br>Patricia A. Hartz - updated : 4/11/2007<br>Patricia A. Hartz - updated : 6/9/2006
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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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Patricia A. Hartz : 10/14/2004
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</span>
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</div>
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</div>
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</div>
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<div>
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<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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carol : 02/28/2025
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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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mgross : 05/18/2022<br>carol : 03/02/2020<br>carol : 03/01/2020<br>carol : 03/01/2020<br>carol : 07/18/2016<br>carol : 1/29/2015<br>carol : 4/11/2012<br>alopez : 7/13/2010<br>alopez : 1/5/2010<br>terry : 12/29/2009<br>wwang : 4/13/2007<br>terry : 4/11/2007<br>mgross : 6/9/2006<br>mgross : 10/14/2004
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 608968
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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MAF bZIP TRANSCRIPTION FACTOR B; MAFB
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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V-MAF MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN B<br />
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KRML, MOUSE, HOMOLOG OF; KRML
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MAFB</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 766992008;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 20q12
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Genomic coordinates <span class="small">(GRCh38)</span> : 20:40,685,848-40,689,236 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="2">
|
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<span class="mim-font">
|
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20q12
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</span>
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</td>
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<td>
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<span class="mim-font">
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Duane retraction syndrome 3
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
617041
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Multicentric carpotarsal osteolysis syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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166300
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>MAF family members, such as MAFB, are basic region/leucine zipper transcription factors that affect transcription positively or negatively, depending on their partner proteins and the context of the target promoter (Wang et al., 1999). </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Wang et al. (1999) identified the MAFB gene, which they called KRML, within a region of chromosome 20 deleted in malignant myeloid disorders. By PCR of genomic DNA, followed by screening a bone marrow cDNA library and EST database analysis, they obtained 3 full-length cDNAs that differ only in their utilization of alternate polyadenylation signals. The common deduced protein contains 323 amino acids and has a calculated molecular mass of 35.8 kD. MAFB has a pro-ser-thr-rich acidic transcription activation domain at its N terminus, followed by 2 histidine repeats, an extended homology region, a basic DNA-binding domain, and a C-terminal leucine zipper domain containing hydrophobic residues that form the zipper heptad repeats (LLLLYL). MAFB shares 84% amino acid identity with its murine homolog. Northern blot analysis detected ubiquitous expression of MAFB. A 3.0-kb transcript was expressed in all tissues analyzed, and a 1.8-kb transcript was expressed predominantly in bone marrow and skeletal muscle, with low-level expression in heart. </p>
|
|
</span>
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
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|
|
<span class="mim-text-font">
|
|
<p>Wang et al. (1999) determined that the MAFB gene has a single exon and spans about 3 kb. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By sequence analysis, Wang et al. (1999) mapped the MAFB gene to chromosome 20q11.2-q13.1. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Using a yeast 2-hybrid screen and in vitro protein-binding assays, Petersen et al. (2004) demonstrated that human MAFB interacted directly with the intracellular domain (ICD) of mouse Lrp1 (107770). Mutation analysis indicated that the leucine zipper motif of MAFB was required for this interaction. Murine Mafb and the isolated ICD colocalized in the nucleus of cotransfected human embryonic kidney cells. The ICD also localized in the cytoplasm. MAFB stimulated expression of a reporter gene that was constructed with 3 upstream copies of the Maf recognition element (MARE) followed by a TATA-like promoter. Cotransfection of the Lrp1 ICD with MAFB reduced the transactivation potential of MAFB. </p><p>Garzon et al. (2006) identified MAFB as a putative target of MIRN130A (610175) and, using RT-PCR and Western blot analysis, found that MAFB mRNA and protein were upregulated during megakaryocytic differentiation. Transfection of a human megakaryocytic leukemia cell line with MIRN130A precursor reduced expression of a reporter gene containing the 3-prime UTR of MAFB, and overexpression of MIRN130A in a myelogenous leukemia cell line reduced MAFB protein levels. </p><p>Aziz et al. (2009) reported that combined deficiency for the transcription factors MafB and c-Maf enables extended expansion of mature monocytes and macrophages in culture without loss of differentiated phenotype and function. Upon transplantation, the expanded cells are nontumorigenic and contribute to functional macrophage populations in vivo. Small hairpin RNA inactivation showed that continuous proliferation of MafB/c-Maf-deficient macrophages requires concomitant upregulation of 2 pluripotent stem cell-inducing factors, KLF4 (602253) and c-Myc (190080). Aziz et al. (2009) concluded that MafB/c-Maf deficiency renders self-renewal compatible with terminal differentiation. It thus appears possible to amplify functional differentiated cells without malignant transformation or stem cell intermediates. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p><strong><em>Multicentric Carpotarsal Osteolysis Syndrome</em></strong></p><p>
|
|
In 11 simplex cases and affected individuals from 2 pedigrees with multicentric carpotarsal osteolysis syndrome (MCTO; 166300), Zankl et al. (2012) identified heterozygosity for missense mutations in the MAFB gene (see, e.g., 608968.0001-608968.0006). The mutations were clustered within a 51-bp region of the single exon of MAFB. All but the 3 youngest simplex cases had renal disease, and 5 patients had undergone renal transplantation; however, because affected adults from the 2 families did not manifest renal dysfunction, Zankl et al. (2012) concluded that MAFB mutations are also responsible for MCTO in the absence of renal disease. </p><p><strong><em>Duane Retraction Syndrome 3 with or without Deafness</em></strong></p><p>
|
|
In affected members of a family (family FA) with Duane retraction syndrome and hearing loss (DURS3; 617041), Park et al. (2016) screened the MAFB gene and identified heterozygosity for a 1-bp deletion (608968.0007). Screening of MAFP in additional probands with DURS identified 2 more DURS families with heterozygous 1-bp deletions (608968.0008-608968.0009) and 1 with a heterozygous full gene deletion (608968.0010). None of the affected individuals in the 3 additional families had hearing loss. Functional analysis suggested a threshold model for variable loss of MAFB function, with the mutation in family FA causing a dominant-negative effect, resulting in less than 50% protein function and causing both DURS and deafness, whereas the heterozygous loss-of-function mutations in the other 3 families with isolated DURS showed 50% protein function. These results were consistent with the phenotypes observed in Mafb +/- and knockout mice (see ANIMAL MODEL). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
For discussion of a possible association between variation in the MAFB gene and susceptibility to nonsyndromic cleft lip/palate, see 119530.</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>Wang et al. (1999) noted that mutations in the murine Mafb gene are responsible for the mouse mutant Kreisler (kr), a developmental defect of the hindbrain. </p><p>Artner et al. (2007) stated that homozygous Mafb-mutant mice die at birth: kr mice of renal failure and Mafb -/- mice of central apnea. They observed that Mafb -/- mouse embryos had reduced numbers of pancreatic alpha and beta cells, whereas the total number of endocrine cells was unchanged. Production of alpha cells was delayed until embryonic day 13.5 in mutant embryos and coincident with the onset of Mafa (610303) expression. </p><p>Yu et al. (2013) developed Mafb conditional knockout (CKO) mice to avoid the early lethality and inner ear malformations of Mafb-null mice. They found that Mafb was expressed in spiral ganglion neurons (SGNs) and that expression peaked during synaptogenesis in mice. Analysis of Mafb CKO mice showed that Mafb was not required for the initial production or differentiation of SGNs. Instead, Mafb was essential for development of the auditory afferent synapse, as Mafb acted in SGN afferents to specify postsynaptic differentiation of ribbon synapses. Despite normal intrinsic membrane and firing properties in SGNs, SGNs failed to develop normal postsynaptic densities (PSDs) in Mafb CKO mice, leading to reduced synapse number and impaired auditory responses. In contrast, exogenous expression of Mafb in SGNs accelerated afferent synapse development in mice. Further analysis using Gata3 (131320) CKO mice showed that Mafb acted downstream of Gata3 in a transcriptional cascade that guided SGN development and ensured emergence of cell type-specific features critical for the sense of hearing. </p><p>Park et al. (2016) observed that at embryonic day 11.5 (E11.5), Mafb +/- mice had hypoplastic abducens nerves, whereas Mafb -/- mice showed severe malformations of the hindbrain and as a result were missing abducens nerves and displayed fusion of the glossopharyngeal and vagus nerves. Using an orbital dissection technique to visualize the developing cranial nerves and extraocular muscles in mouse embryos, Park et al. (2016) observed that by E12.5, the abducens nerve was present in the orbit and contacted the developing lateral rectus (LR) muscle in wildtype embryos. In Mafb +/- embryos, however, a hypoplastic abducens nerve contacted the developing LR muscle, and aberrant branches of the oculomotor nerve began to form in the direction of the LR muscle and retractor bulbi (RB) muscle. In Mafb -/- embryos, the abducens nerve was absent, and an aberrant branch of the oculomotor nerve formed and contacted the developing LR muscle along a trajectory similar to that of the wildtype abducens nerve, whereas other aberrant branches developed and contacted the RB muscle. By E16.5, wildtype embryos had developed the adult configuration of extraocular muscles and cranial nerves, whereas in Mafb +/- embryos, the abducens nerve remained hypoplastic in comparison to wildtype but provided some innervation to the LR muscle, and in Mafb -/- embryos, the abducens nerve was absent and provided no innervation to the LR muscle. In both heterozygous and null embryos, the LR muscle received innervation from aberrant oculomotor nerve branches. Park et al. (2016) concluded that aberrant innervation of the LR muscle by the oculomotor nerve in Duane retraction syndrome-3 (DURS3; 617041) arises as a secondary mechanism due to absent or reduced LR muscle innervation by the abducens nerve. </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>10 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 MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME</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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MAFB, THR62PRO
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<br />
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SNP: rs387907004,
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ClinVar: RCV000023747
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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 multicentric carpotarsal osteolysis syndrome (MCTO; 166300), Zankl et al. (2012) identified heterozygosity for a 184A-C transversion in the MAFB gene, resulting in a thr62-to-pro (T62P) substitution at a highly conserved residue within the N-terminal transcription activation domain. The mutation was not found in the unaffected parents or in 164 controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME</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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MAFB, SER70ALA
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<br />
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SNP: rs387907005,
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ClinVar: RCV000023748
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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 multicentric carpotarsal osteolysis syndrome (MCTO; 166300), Zankl et al. (2012) identified heterozygosity for a 208T-G transversion in the MAFB gene, resulting in a ser70-to-ala (S70A) substitution at a highly conserved residue within the N-terminal transcription activation domain. The mutation was not found in the unaffected parents or in 164 controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MAFB, SER70LEU
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<br />
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SNP: rs387907006,
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ClinVar: RCV000023749, RCV001266648, RCV005089308
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated probands with multicentric carpotarsal osteolysis syndrome (MCTO; 166300), Zankl et al. (2012) identified heterozygosity for a 209C-T transition in the MAFB gene, resulting in a ser70-to-leu (S70L) substitution at a highly conserved residue within the N-terminal transcription activation domain. The mutation was not found in the unaffected parents or in 164 controls. </p>
|
|
</span>
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|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
|
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|
|
MAFB, PRO71SER
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<br />
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|
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SNP: rs387907007,
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|
|
ClinVar: RCV000023750
|
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3-year-old patient and an unrelated 7-year-old patient with multicentric carpotarsal osteolysis syndrome (MCTO; 166300), Zankl et al. (2012) identified heterozygosity for a 211C-T transition in the MAFB gene, resulting in a pro71-to-ser (P71S) substitution at a highly conserved residue within the N-terminal transcription activation domain. The mutation was not found in the unaffected parents or in 164 controls. Neither patient had evidence of renal disease as yet, although Zankl et al. (2012) noted that an older affected individual with a different mutation at the same residue (P71L; 608968.0005) had manifested renal disease. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MAFB, PRO71LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387907008,
|
|
|
|
|
|
|
|
ClinVar: RCV000023751
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with multicentric carpotarsal osteolysis syndrome (MCTO; 166300), Zankl et al. (2012) identified heterozygosity for a 212C-T transition in the MAFB gene, resulting in a pro71-to-leu (P71L) substitution at a highly conserved residue within the N-terminal transcription activation domain. The mutation was not found in the unaffected parents or in 164 controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MAFB, SER54LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs730880014,
|
|
|
|
|
|
|
|
ClinVar: RCV000023752, RCV000724296
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected individuals from 2 unrelated multigenerational families with multicentric carpotarsal osteolysis syndrome (MCTO; 166300), Zankl et al. (2012) identified heterozygosity for a 161C-T transition in the MAFB gene, resulting in a ser54-to-leu (S54L) substitution at a highly conserved residue within the N-terminal transcription activation domain. The mutation was not found in unaffected family members or in 164 controls. Zankl et al. (2012) noted that affected individuals from these 2 families, many of whom were adults, did not manifest renal disease, with the exception of 1 patient who 'at a very old age' developed renal dysfunction of unknown etiology; the authors therefore concluded that MAFB mutations are also responsible for MCTO in the absence of renal disease. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 DUANE RETRACTION SYNDROME 3 WITH DEAFNESS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MAFB, 1-BP DEL, 803A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs879255275,
|
|
|
|
|
|
|
|
ClinVar: RCV000235061, RCV000240679
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 affected members of a family (family FA) with Duane retraction syndrome and hearing loss (DURS3; 617041), Park et al. (2016) identified heterozygosity for a 1-bp deletion (c.803delA, NM_005461.4) within the LZ of the MAFB gene, causing a frameshift predicted to result in premature termination codon (Asn268MetfsTer125), with retention of the EHR and BR domains in the mutant protein. Functional analysis by luciferase assay in transfected HEK293T cells showed no activity with the mutant protein alone, and reduced transcriptional activity of wildtype MAFB when coexpressed with the mutant, consistent with a dominant-negative mechanism. Affected members of this family exhibited phenotypic variability, having either type 1 or type 3 DURS, which was unilateral and right-sided in the mother and 2 affected sons, and bilateral in the affected granddaughter. The mother and 1 son also had right-sided deafness, whereas the granddaughter had bilateral deafness; her affected father did not report deafness, but had not undergone formal hearing testing. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 DUANE RETRACTION SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MAFB, 1-BP DEL, 440G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs879255276,
|
|
|
|
|
|
|
|
ClinVar: RCV000240729, RCV002051692
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male patient (family 0819) with bilateral type 1 Duane retraction syndrome (DURS3; 617041), Park et al. (2016) identified heterozygosity for a 1-bp deletion (c.440delG, NM_005461.4) between the N-terminal polyhistidine regions, causing a frameshift predicted to result in a premature termination codon (Gly147AlafsTer78). Functional analysis by luciferase assay in transfected HEK293T cells showed no activity with the mutant protein alone; there was no change in transcriptional activity of wildtype MAFB when coexpressed with the mutant, consistent with a loss-of-function mechanism. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 DUANE RETRACTION SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
|
|
MAFB, 1-BP DEL, 644A
|
|
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|
|
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<br />
|
|
|
|
SNP: rs879255277,
|
|
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|
|
|
|
|
ClinVar: RCV000240779, RCV002051693
|
|
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|
|
|
</span>
|
|
</div>
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a father and 2 daughters (family PM) with bilateral Duane retraction syndrome (DURS3; 617041), Park et al. (2016) identified heterozygosity for a 1-bp deletion (c.644delA, NM_005461.4) at the beginning of the EHR domain, causing a frameshift predicted to result in a premature termination codon (Gln215ArgfsTer10). The father and 1 of the affected daughters had type 3 DURS on the right and type 1 DURS on the left, whereas the other daughter had type 3 DURS bilaterally. </p>
|
|
</span>
|
|
</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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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 DUANE RETRACTION SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
|
MAFB, 600-KB DEL
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<br />
|
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ClinVar: RCV000240735, RCV002051694
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 6 affected members over 2 generations of a family (family N) with Duane retraction syndrome (DURS3; 617041), Park et al. (2016) identified heterozygosity for an approximately 600-kb deletion on chromosome 20, encompassing only the MAFB gene (GRCh37). Affected individuals had unilateral (right-sided) or bilateral DURS, which in 2 of the patients was reported to be type 3. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Artner, I., Blanchi, B., Raum, J. C., Guo, M., Kaneko, T., Cordes, S., Sieweke, M., Stein, R.
|
|
<strong>MafB is required for islet beta cell maturation.</strong>
|
|
Proc. Nat. Acad. Sci. 104: 3853-3858, 2007.
|
|
|
|
|
|
[PubMed: 17360442]
|
|
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|
|
[Full Text: https://doi.org/10.1073/pnas.0700013104]
|
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|
|
</p>
|
|
</li>
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Aziz, A., Soucie, E., Sarrazin, S., Sieweke, M. H.
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<strong>MafB/c-Maf deficiency enables self-renewal of differentiated functional macrophages.</strong>
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Garzon, R., Pichiorri, F., Palumbo, T., Iuliano, R., Cimmino, A., Aqeilan, R., Volinia, S., Bhatt, D., Alder, H., Marcucci, G., Calin, G. A., Liu, C.-G., Bloomfield, C. D., Andreeff, M., Croce, C. M.
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<strong>MicroRNA fingerprints during human megakaryocytopoiesis.</strong>
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[Full Text: https://doi.org/10.1073/pnas.0600587103]
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Park, J. G., Tischfield, M. A., Nugent, A. A., Cheng, L., Di Gioia, S. A., Chan, W.-M., Maconachie, G., Bosley, T. M., Summers, C. G., Hunter, D. G., Robson, C. D., Gottlob, I., Engle, E. C.
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<strong>Loss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defects.</strong>
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Am. J. Hum. Genet. 98: 1220-1227, 2016.
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[Full Text: https://doi.org/10.1016/j.ajhg.2016.03.023]
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Petersen, H. H., Hilpert, J., Jacobsen, C., Lauwers, A., Roebroek, A. J. M., Willnow, T. E.
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<strong>Low-density lipoprotein receptor-related protein interacts with MafB, a regulator of hindbrain development.</strong>
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Wang, P. W., Eisenbart, J. D., Cordes, S. P., Barsh, G. S., Stoffel, M., Le Beau, M. M.
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<strong>Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias.</strong>
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Genomics 59: 275-281, 1999.
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[PubMed: 10444328]
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Yu, W.-M., Appler, J. M., Kim, Y.-H., Nishitani, A. M., Holt, J. R., Goodrich, L. V.
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<strong>A Gata3-Mafb transcriptional network directs post-synaptic differentiation in synapses specialized for hearing.</strong>
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Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazov, E. A., Addor, M.-C., Herlin, T., Kim, C. A., Leheup. B. P., McGill, J., McTaggart, S., Mittas, S., Mitchell, A. L., Mortier, G. R., Robertson, S. P., Schroeder, M., Terhal, P., Brown, M. A.
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<strong>Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.</strong>
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Am. J. Hum. Genet. 90: 494-501, 2012. Note: Erratum: Am. J. Hum. Genet. 94: 643 only, 2014.
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[PubMed: 22387013]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.01.003]
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Bao Lige - updated : 05/18/2022<br>Marla J. F. O'Neill - updated : 07/18/2016<br>Marla J. F. O'Neill - updated : 4/11/2012<br>Ada Hamosh - updated : 12/29/2009<br>Patricia A. Hartz - updated : 4/11/2007<br>Patricia A. Hartz - updated : 6/9/2006
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