2726 lines
183 KiB
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Entry
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- *176705 - PROHIBITIN; PHB
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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">*176705</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFamily">Gene Family</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/176705">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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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-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=ENSG00000167085;t=ENST00000300408" 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=5245" 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=176705" 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=ENSG00000167085;t=ENST00000300408" 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_001281496,NM_001281497,NM_001281715,NM_002634,XM_017024763" 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_002634" 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=176705" 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=01454&isoform_id=01454_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/PHB1" 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/246483,464371,622964,4505773,15426565,27532987,30583661,46360168,49456373,62897923,66267315,115307628,119615086,119615087,158254968,189069194,194379286,209402820,240065009,308219146,527498279,527498282,528281407,1034600156,2462556051" 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/P35232" 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=5245" 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=ENSG00000167085;t=ENST00000300408" 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=PHB1" 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=PHB1" 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+5245" 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/PHB1" 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:5245" 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/5245" 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=chr17&hgg_gene=ENST00000300408.8&hgg_start=49404052&hgg_end=49414882&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=176705[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=176705[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/ENSG00000167085" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=PHB1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=PHB1" 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=PHB1" 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=PHB1&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/PA33251" 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:8912" 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/FBgn0002031.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:97572" 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/PHB1#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:97572" 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/5245/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=5245" 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=WBGene00004014;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-030131-6577" 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:5245" 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=PHB1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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176705
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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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PROHIBITIN; PHB
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
PHB1
|
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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=PHB1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PHB1</a></em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/17/720?start=-3&limit=10&highlight=720">17q21.33</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:49404052-49414882&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'})">17:49,404,052-49,414,882</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
|
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
<a href="/geneMap/17/720?start=-3&limit=10&highlight=720">
|
|
17q21.33
|
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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">
|
|
{Breast cancer, susceptibility to}
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/114480"> 114480 </a>
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</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/176705" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/176705" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
|
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>Prohibitin is a 30-kD intracellular, antiproliferative protein (<a href="#10" class="mim-tip-reference" title="White, J. J., Ledbetter, D. H., Eddy, R. L., Jr., Shows, T. B., Stewart, D. A., Nuell, M. J., Friedman, V., Wood, C. M., Owens, G. A., McClung, J. K., Danner, D. B., Morton, C. C. <strong>Assignment of the human prohibitin gene (PHB) to chromosome 17 and identification of a DNA polymorphism.</strong> Genomics 11: 228-230, 1991. Note: Erratum: Genomics 11: 732 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1684951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1684951</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90126-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1684951">White et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1684951" 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="#10" class="mim-tip-reference" title="White, J. J., Ledbetter, D. H., Eddy, R. L., Jr., Shows, T. B., Stewart, D. A., Nuell, M. J., Friedman, V., Wood, C. M., Owens, G. A., McClung, J. K., Danner, D. B., Morton, C. C. <strong>Assignment of the human prohibitin gene (PHB) to chromosome 17 and identification of a DNA polymorphism.</strong> Genomics 11: 228-230, 1991. Note: Erratum: Genomics 11: 732 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1684951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1684951</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90126-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1684951">White et al. (1991)</a> mapped the PHB gene to chromosome 17 by analysis of human-mouse somatic cell hybrid cell lines using a genomic fragment of human prohibitin DNA isolated from a library using the rat prohibitin cDNA clone. By a study of cell lines containing portions of human chromosome 17, they determined that the PHB gene was located in the 17q11.2-q23 region. By in situ hybridization, they localized the gene to 17q21. <a href="#8" class="mim-tip-reference" title="Sato, T., Saito, H., Swensen, J., Olifant, A., Wood, C., Danner, D., Sakamoto, T., Takita, K., Kasumi, F., Miki, Y., Skolnick, M., Nakamura, Y. <strong>The human prohibitin gene located on chromosome 17q21 is mutated in sporadic breast cancer.</strong> Cancer Res. 52: 1643-1646, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1540973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1540973</a>]" pmid="1540973">Sato et al. (1992)</a> isolated the human homolog of the rat prohibitin gene and mapped it to 17q12-q21 by in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1684951+1540973" 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="#9" class="mim-tip-reference" title="Sato, T., Sakamoto, T., Takita, K.-I., Saito, H., Okui, K., Nakamura, Y. <strong>The human prohibitin (PHB) gene family and its somatic mutations in human tumors.</strong> Genomics 17: 762-764, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244394</a>] [<a href="https://doi.org/10.1006/geno.1993.1402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244394">Sato et al. (1993)</a> showed that the human prohibitin gene family consists of 1 functional PHB gene on 17q21 and 4 processed pseudogenes, each on a different chromosome: PHBP1 on 6q25, PHBP2 on 11p11.2, PHBP3 on 1p31.3, and PHBP4 on 2q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244394" 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>Proliferation of tumor cells depends on new blood vessel formation (angiogenesis) that accompanies malignant progression. Anticancer therapies using angiogenesis inhibitors or cytotoxic agents targeted to the vasculature of tumors have been evaluated in clinical trials. Although white fat is a nonmalignant tissue, it has the capability to quickly proliferate and expand. Furthermore, it is highly vascularized. <a href="#7" class="mim-tip-reference" title="Rupnick, M. A., Panigrahy, D., Zhang, C.-Y., Dallabrida, S. M., Lowell, B. B., Langer, R., Folkman, M. J. <strong>Adipose tissue mass can be regulated through the vasculature.</strong> Proc. Nat. Acad. Sci. 99: 10730-10735, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12149466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12149466</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12149466[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.162349799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12149466">Rupnick et al. (2002)</a> showed that nonspecific angiogenesis inhibitors can prevent the development of obesity of mice. <a href="#6" class="mim-tip-reference" title="Kolonin, M. G., Saha, P. K., Chan, L., Pasqualini, R., Arap, W. <strong>Reversal of obesity by targeted ablation of adipose tissue.</strong> Nature Med. 10: 625-632, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15133506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15133506</a>] [<a href="https://doi.org/10.1038/nm1048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15133506">Kolonin et al. (2004)</a> used in vivo phage display to isolate a peptide motif (amino sequence CKGGRAKDC) that homes to white fat vasculature. They showed that the CKGGRAKDC peptide associates with prohibitin, a multifunctional membrane protein, and thus established prohibitin as a vascular marker of adipose tissue. Targeting a proapoptotic peptide to prohibitin in the adipose vasculature caused ablation of white fat in mice. Resorption of established white adipose tissue and normalization of metabolism resulted in rapid obesity reversal without detectable adverse effects. Because prohibitin is also expressed in blood vessels of human white fat, the work suggested the development of targeted drugs for treatment of obese patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12149466+15133506" 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>Prohibitins form a ring-like, high-molecular-mass complex at the inner membrane of mitochondria. <a href="#1" class="mim-tip-reference" title="Artal-Sanz, M., Tavernarakis, N. <strong>Prohibitin couples diapause signalling to mitochondrial metabolism during ageing in C. elegans.</strong> Nature 461: 793-797, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19812672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19812672</a>] [<a href="https://doi.org/10.1038/nature08466" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19812672">Artal-Sanz and Tavernarakis (2009)</a> demonstrated that the mitochondrial prohibitin complex promotes longevity by modulating mitochondrial function and fat metabolism in C. elegans. They found that prohibitin deficiency shortened the life span of otherwise wildtype animals. Knockdown of prohibitin promoted longevity in diapause mutants or under conditions of dietary restriction. In addition, prohibitin deficiency extended the life span of animals with compromised mitochondrial functions or fat metabolism. Depletion of prohibitin influenced ATP levels, animal fat content, and mitochondrial proliferation in a genetic-background- and age-specific manner. <a href="#1" class="mim-tip-reference" title="Artal-Sanz, M., Tavernarakis, N. <strong>Prohibitin couples diapause signalling to mitochondrial metabolism during ageing in C. elegans.</strong> Nature 461: 793-797, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19812672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19812672</a>] [<a href="https://doi.org/10.1038/nature08466" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19812672">Artal-Sanz and Tavernarakis (2009)</a> concluded that their findings revealed a novel mechanism regulating mitochondrial biogenesis and function, with opposing effects on energy metabolism, fat utilization, and aging in C. elegans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19812672" 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>By gel filtration, mass spectrometry, coimmunoprecipitation, and Western blot analysis of HeLa cells, <a href="#3" class="mim-tip-reference" title="Da Cruz, S., Parone, P. A., Gonzalo, P., Bienvenut, W. V., Tondera, D., Jourdain, A., Quadroni, M., Martinou, J.-C. <strong>SLP-2 interacts with prohibitins in the mitochondrial inner membrane and contributes to their stability.</strong> Biochim. Biophys. Acta 1783: 904-911, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18339324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18339324</a>] [<a href="https://doi.org/10.1016/j.bbamcr.2008.02.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18339324">Da Cruz et al. (2008)</a> showed that prohibitin-1 and prohibitin-2 (PHB2; <a href="/entry/610704">610704</a>) interacted in a 250-kD complex with SLP2 (STOML2; <a href="/entry/608292">608292</a>). Knockdown of SLP2 in HeLa cells or mouse embryonic fibroblasts via RNA interference led to increased proteolysis of the prohibitins and other mitochondrial proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18339324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using coimmunoprecipitation analysis, <a href="#2" class="mim-tip-reference" title="Christie, D. A., Lemke, C. D., Elias, I. M., Chau, L. A., Kirchhof, M. G., Li, B., Ball, E. H., Dunn, S. D., Hatch, G. M., Madrenas, J. <strong>Stomatin-like protein 2 binds cardiolipin and regulates mitochondrial biogenesis and function.</strong> Molec. Cell. Biol. 31: 3845-3856, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21746876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21746876</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21746876[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/10.1128/MCB.05393-11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21746876">Christie et al. (2011)</a> confirmed that SLP2 interacted with PHB1 and PHB2. Elevated SLP2 content increased the association of PHB1 with mitochondrial membranes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21746876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By DNA sequence analysis of 2 exons in the PHB gene in 23 sporadic breast cancers that showed loss of heterozygosity on 17q or developed in patients 35 years old or younger, <a href="#9" class="mim-tip-reference" title="Sato, T., Sakamoto, T., Takita, K.-I., Saito, H., Okui, K., Nakamura, Y. <strong>The human prohibitin (PHB) gene family and its somatic mutations in human tumors.</strong> Genomics 17: 762-764, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244394</a>] [<a href="https://doi.org/10.1006/geno.1993.1402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244394">Sato et al. (1993)</a> identified 4 cases of somatic mutation: 2 of these were missense mutations, 1 showed a 2-bp deletion resulting in truncation of the gene product due to frameshift, and the fourth was a splice site mutation. <a href="#9" class="mim-tip-reference" title="Sato, T., Sakamoto, T., Takita, K.-I., Saito, H., Okui, K., Nakamura, Y. <strong>The human prohibitin (PHB) gene family and its somatic mutations in human tumors.</strong> Genomics 17: 762-764, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244394</a>] [<a href="https://doi.org/10.1006/geno.1993.1402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244394">Sato et al. (1993)</a> found no mutations in the PHB gene in other forms of tumors, namely, those of ovary, liver, and lung. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In breast cancer cell lines, <a href="#5" class="mim-tip-reference" title="Jupe, E. R., Liu, X. T., Kiehlbauch, J. L., McClung, J. K., Dell'Orco, R. T. <strong>Prohibitin in breast cancer cell lines: loss of antiproliferative activity is linked to 3-prime untranslated region mutations.</strong> Cell Growth Diff. 7: 871-878, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8809404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8809404</a>]" pmid="8809404">Jupe et al. (1996)</a> identified a point mutation at position 729 in the prohibitin 3-prime untranslated region (base 1630 in the full-length transcript). The change was identified as a single-nucleotide polymorphism (SNP), +729C-T (<a href="#0001">176705.0001</a>), in which the variant T allele lacked the antiproliferative activity of the more common functional C allele. The observation led to the hypothesis that women carrying the prohibitin T allele have increased susceptibility to breast cancer. <a href="#4" class="mim-tip-reference" title="Jupe, E. R., Badgett, A. A., Neas, B. R., Craft, M. A., Mitchell, D. S., Resta, R., Mulvihill, J. J., Aston, C. E., Thompson, L. F. <strong>Single nucleotide polymorphism in prohibitin 3-prime untranslated region and breast-cancer susceptibility.</strong> Lancet 357: 1588-1589, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11377649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11377649</a>] [<a href="https://doi.org/10.1016/s0140-6736(00)04747-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11377649">Jupe et al. (2001)</a> found an association between the T allele and breast cancer in women who reported a first-degree relative with the disease, and an even stronger association in a subset of women diagnosed at or before age 50 years. They suggested that prohibitin genotyping has value in assessing risk of breast cancer in women aged 50 years or younger with at least 1 first-degree relative with the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8809404+11377649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs112294663 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs112294663;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs112294663?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs112294663" 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=rs112294663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918372 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918372;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918372?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918372" 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=rs121918372" 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=RCV000014325" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014325" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014325</a>
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<p>In breast cancer cell lines, <a href="#5" class="mim-tip-reference" title="Jupe, E. R., Liu, X. T., Kiehlbauch, J. L., McClung, J. K., Dell'Orco, R. T. <strong>Prohibitin in breast cancer cell lines: loss of antiproliferative activity is linked to 3-prime untranslated region mutations.</strong> Cell Growth Diff. 7: 871-878, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8809404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8809404</a>]" pmid="8809404">Jupe et al. (1996)</a> identified a point mutation at position +729 in the prohibitin 3-prime untranslated region (base 1630 in the full-length transcript). The change was identified as a +729C-T transition in which the variant T allele lacked the antiproliferative activity of the more common functional C allele. The observation led to the hypothesis that women carrying the prohibitin T allele have increased susceptibility to breast cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8809404" 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="Jupe, E. R., Badgett, A. A., Neas, B. R., Craft, M. A., Mitchell, D. S., Resta, R., Mulvihill, J. J., Aston, C. E., Thompson, L. F. <strong>Single nucleotide polymorphism in prohibitin 3-prime untranslated region and breast-cancer susceptibility.</strong> Lancet 357: 1588-1589, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11377649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11377649</a>] [<a href="https://doi.org/10.1016/s0140-6736(00)04747-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11377649">Jupe et al. (2001)</a> performed a case-control study of prohibitin genotype in 205 women with breast cancer and 1,046 healthy controls. The results showed an association between the T allele and breast cancer in women who reported a first-degree relative with the disease (odds ratio 2.5, p = 0.005). An even stronger association was found in a subset of women diagnosed at or before age 50 years (4.8, p = 0.003). <a href="#4" class="mim-tip-reference" title="Jupe, E. R., Badgett, A. A., Neas, B. R., Craft, M. A., Mitchell, D. S., Resta, R., Mulvihill, J. J., Aston, C. E., Thompson, L. F. <strong>Single nucleotide polymorphism in prohibitin 3-prime untranslated region and breast-cancer susceptibility.</strong> Lancet 357: 1588-1589, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11377649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11377649</a>] [<a href="https://doi.org/10.1016/s0140-6736(00)04747-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11377649">Jupe et al. (2001)</a> suggested that prohibitin genotyping has value in assessing risk of breast cancer in women aged 50 years or younger with at least 1 first-degree relative with the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11377649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Artal-Sanz2009" class="mim-anchor"></a>
|
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Artal-Sanz, M., Tavernarakis, N.
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<strong>Prohibitin couples diapause signalling to mitochondrial metabolism during ageing in C. elegans.</strong>
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Nature 461: 793-797, 2009.
|
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|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19812672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19812672</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19812672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature08466" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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Christie, D. A., Lemke, C. D., Elias, I. M., Chau, L. A., Kirchhof, M. G., Li, B., Ball, E. H., Dunn, S. D., Hatch, G. M., Madrenas, J.
|
|
<strong>Stomatin-like protein 2 binds cardiolipin and regulates mitochondrial biogenesis and function.</strong>
|
|
Molec. Cell. Biol. 31: 3845-3856, 2011.
|
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21746876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21746876</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21746876[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=21746876" 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/10.1128/MCB.05393-11" target="_blank">Full Text</a>]
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<a id="Da Cruz2008" class="mim-anchor"></a>
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Da Cruz, S., Parone, P. A., Gonzalo, P., Bienvenut, W. V., Tondera, D., Jourdain, A., Quadroni, M., Martinou, J.-C.
|
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<strong>SLP-2 interacts with prohibitins in the mitochondrial inner membrane and contributes to their stability.</strong>
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|
Biochim. Biophys. Acta 1783: 904-911, 2008.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18339324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18339324</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18339324" 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.bbamcr.2008.02.006" target="_blank">Full Text</a>]
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Jupe, E. R., Badgett, A. A., Neas, B. R., Craft, M. A., Mitchell, D. S., Resta, R., Mulvihill, J. J., Aston, C. E., Thompson, L. F.
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<strong>Single nucleotide polymorphism in prohibitin 3-prime untranslated region and breast-cancer susceptibility.</strong>
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Lancet 357: 1588-1589, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11377649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11377649</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11377649" 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/s0140-6736(00)04747-4" target="_blank">Full Text</a>]
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Jupe, E. R., Liu, X. T., Kiehlbauch, J. L., McClung, J. K., Dell'Orco, R. T.
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<strong>Prohibitin in breast cancer cell lines: loss of antiproliferative activity is linked to 3-prime untranslated region mutations.</strong>
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Cell Growth Diff. 7: 871-878, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8809404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8809404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8809404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kolonin, M. G., Saha, P. K., Chan, L., Pasqualini, R., Arap, W.
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<strong>Reversal of obesity by targeted ablation of adipose tissue.</strong>
|
|
Nature Med. 10: 625-632, 2004.
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15133506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15133506</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15133506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nm1048" target="_blank">Full Text</a>]
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Rupnick, M. A., Panigrahy, D., Zhang, C.-Y., Dallabrida, S. M., Lowell, B. B., Langer, R., Folkman, M. J.
|
|
<strong>Adipose tissue mass can be regulated through the vasculature.</strong>
|
|
Proc. Nat. Acad. Sci. 99: 10730-10735, 2002.
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12149466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12149466</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12149466[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=12149466" 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.162349799" target="_blank">Full Text</a>]
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Sato, T., Saito, H., Swensen, J., Olifant, A., Wood, C., Danner, D., Sakamoto, T., Takita, K., Kasumi, F., Miki, Y., Skolnick, M., Nakamura, Y.
|
|
<strong>The human prohibitin gene located on chromosome 17q21 is mutated in sporadic breast cancer.</strong>
|
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Cancer Res. 52: 1643-1646, 1992.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1540973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1540973</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1540973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Sato, T., Sakamoto, T., Takita, K.-I., Saito, H., Okui, K., Nakamura, Y.
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<strong>The human prohibitin (PHB) gene family and its somatic mutations in human tumors.</strong>
|
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Genomics 17: 762-764, 1993.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244394</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244394" 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.1993.1402" target="_blank">Full Text</a>]
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White, J. J., Ledbetter, D. H., Eddy, R. L., Jr., Shows, T. B., Stewart, D. A., Nuell, M. J., Friedman, V., Wood, C. M., Owens, G. A., McClung, J. K., Danner, D. B., Morton, C. C.
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<strong>Assignment of the human prohibitin gene (PHB) to chromosome 17 and identification of a DNA polymorphism.</strong>
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Genomics 11: 228-230, 1991. Note: Erratum: Genomics 11: 732 only, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1684951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1684951</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1684951" 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/10.1016/0888-7543(91)90126-y" target="_blank">Full Text</a>]
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Patricia A. Hartz - updated : 2/20/2013
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Ada Hamosh - updated : 11/5/2009<br>Victor A. McKusick - updated : 5/13/2004<br>Victor A. McKusick - updated : 5/31/2002
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 8/6/1991
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carol : 08/29/2016
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<span class="mim-text-font">
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alopez : 05/05/2014<br>mgross : 2/20/2013<br>terry : 2/20/2013<br>carol : 9/24/2012<br>carol : 3/19/2010<br>wwang : 1/21/2010<br>alopez : 11/9/2009<br>alopez : 11/9/2009<br>terry : 11/5/2009<br>mgross : 1/16/2007<br>terry : 11/2/2004<br>alopez : 6/28/2004<br>terry : 5/20/2004<br>alopez : 5/13/2004<br>terry : 5/13/2004<br>terry : 1/2/2003<br>alopez : 6/18/2002<br>terry : 5/31/2002<br>mimadm : 2/25/1995<br>carol : 9/21/1993<br>carol : 7/13/1993<br>carol : 5/28/1993<br>carol : 5/27/1993<br>supermim : 3/16/1992
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<span class="mim-font">
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<strong>*</strong> 176705
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<h3>
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<span class="mim-font">
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PROHIBITIN; PHB
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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PHB1
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PHB1</em></strong>
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<strong>
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<em>
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Cytogenetic location: 17q21.33
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:49,404,052-49,414,882 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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17q21.33
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<span class="mim-font">
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{Breast cancer, susceptibility to}
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<span class="mim-font">
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114480
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<span class="mim-font">
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Autosomal dominant; Somatic mutation
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Prohibitin is a 30-kD intracellular, antiproliferative protein (White et al., 1991). </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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</div>
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<p>White et al. (1991) mapped the PHB gene to chromosome 17 by analysis of human-mouse somatic cell hybrid cell lines using a genomic fragment of human prohibitin DNA isolated from a library using the rat prohibitin cDNA clone. By a study of cell lines containing portions of human chromosome 17, they determined that the PHB gene was located in the 17q11.2-q23 region. By in situ hybridization, they localized the gene to 17q21. Sato et al. (1992) isolated the human homolog of the rat prohibitin gene and mapped it to 17q12-q21 by in situ hybridization. </p>
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<strong>Gene Family</strong>
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<p>Sato et al. (1993) showed that the human prohibitin gene family consists of 1 functional PHB gene on 17q21 and 4 processed pseudogenes, each on a different chromosome: PHBP1 on 6q25, PHBP2 on 11p11.2, PHBP3 on 1p31.3, and PHBP4 on 2q21. </p>
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<h4>
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<strong>Gene Function</strong>
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<span class="mim-text-font">
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<p>Proliferation of tumor cells depends on new blood vessel formation (angiogenesis) that accompanies malignant progression. Anticancer therapies using angiogenesis inhibitors or cytotoxic agents targeted to the vasculature of tumors have been evaluated in clinical trials. Although white fat is a nonmalignant tissue, it has the capability to quickly proliferate and expand. Furthermore, it is highly vascularized. Rupnick et al. (2002) showed that nonspecific angiogenesis inhibitors can prevent the development of obesity of mice. Kolonin et al. (2004) used in vivo phage display to isolate a peptide motif (amino sequence CKGGRAKDC) that homes to white fat vasculature. They showed that the CKGGRAKDC peptide associates with prohibitin, a multifunctional membrane protein, and thus established prohibitin as a vascular marker of adipose tissue. Targeting a proapoptotic peptide to prohibitin in the adipose vasculature caused ablation of white fat in mice. Resorption of established white adipose tissue and normalization of metabolism resulted in rapid obesity reversal without detectable adverse effects. Because prohibitin is also expressed in blood vessels of human white fat, the work suggested the development of targeted drugs for treatment of obese patients. </p><p>Prohibitins form a ring-like, high-molecular-mass complex at the inner membrane of mitochondria. Artal-Sanz and Tavernarakis (2009) demonstrated that the mitochondrial prohibitin complex promotes longevity by modulating mitochondrial function and fat metabolism in C. elegans. They found that prohibitin deficiency shortened the life span of otherwise wildtype animals. Knockdown of prohibitin promoted longevity in diapause mutants or under conditions of dietary restriction. In addition, prohibitin deficiency extended the life span of animals with compromised mitochondrial functions or fat metabolism. Depletion of prohibitin influenced ATP levels, animal fat content, and mitochondrial proliferation in a genetic-background- and age-specific manner. Artal-Sanz and Tavernarakis (2009) concluded that their findings revealed a novel mechanism regulating mitochondrial biogenesis and function, with opposing effects on energy metabolism, fat utilization, and aging in C. elegans. </p><p>By gel filtration, mass spectrometry, coimmunoprecipitation, and Western blot analysis of HeLa cells, Da Cruz et al. (2008) showed that prohibitin-1 and prohibitin-2 (PHB2; 610704) interacted in a 250-kD complex with SLP2 (STOML2; 608292). Knockdown of SLP2 in HeLa cells or mouse embryonic fibroblasts via RNA interference led to increased proteolysis of the prohibitins and other mitochondrial proteins. </p><p>Using coimmunoprecipitation analysis, Christie et al. (2011) confirmed that SLP2 interacted with PHB1 and PHB2. Elevated SLP2 content increased the association of PHB1 with mitochondrial membranes. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By DNA sequence analysis of 2 exons in the PHB gene in 23 sporadic breast cancers that showed loss of heterozygosity on 17q or developed in patients 35 years old or younger, Sato et al. (1993) identified 4 cases of somatic mutation: 2 of these were missense mutations, 1 showed a 2-bp deletion resulting in truncation of the gene product due to frameshift, and the fourth was a splice site mutation. Sato et al. (1993) found no mutations in the PHB gene in other forms of tumors, namely, those of ovary, liver, and lung. </p><p>In breast cancer cell lines, Jupe et al. (1996) identified a point mutation at position 729 in the prohibitin 3-prime untranslated region (base 1630 in the full-length transcript). The change was identified as a single-nucleotide polymorphism (SNP), +729C-T (176705.0001), in which the variant T allele lacked the antiproliferative activity of the more common functional C allele. The observation led to the hypothesis that women carrying the prohibitin T allele have increased susceptibility to breast cancer. Jupe et al. (2001) found an association between the T allele and breast cancer in women who reported a first-degree relative with the disease, and an even stronger association in a subset of women diagnosed at or before age 50 years. They suggested that prohibitin genotyping has value in assessing risk of breast cancer in women aged 50 years or younger with at least 1 first-degree relative with the disease. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>1 Selected Example):</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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<h4>
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<span class="mim-font">
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<strong>.0001 BREAST CANCER, SUSCEPTIBILITY TO</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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PHB, +729C-T, 3-PRIME UTR
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<br />
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SNP: rs112294663, rs121918372,
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gnomAD: rs112294663, rs121918372,
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ClinVar: RCV000014325
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</span>
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<div>
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<span class="mim-text-font">
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<p>In breast cancer cell lines, Jupe et al. (1996) identified a point mutation at position +729 in the prohibitin 3-prime untranslated region (base 1630 in the full-length transcript). The change was identified as a +729C-T transition in which the variant T allele lacked the antiproliferative activity of the more common functional C allele. The observation led to the hypothesis that women carrying the prohibitin T allele have increased susceptibility to breast cancer. </p><p>Jupe et al. (2001) performed a case-control study of prohibitin genotype in 205 women with breast cancer and 1,046 healthy controls. The results showed an association between the T allele and breast cancer in women who reported a first-degree relative with the disease (odds ratio 2.5, p = 0.005). An even stronger association was found in a subset of women diagnosed at or before age 50 years (4.8, p = 0.003). Jupe et al. (2001) suggested that prohibitin genotyping has value in assessing risk of breast cancer in women aged 50 years or younger with at least 1 first-degree relative with the disease. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Artal-Sanz, M., Tavernarakis, N.
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<strong>Prohibitin couples diapause signalling to mitochondrial metabolism during ageing in C. elegans.</strong>
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Nature 461: 793-797, 2009.
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[PubMed: 19812672]
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[Full Text: https://doi.org/10.1038/nature08466]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Christie, D. A., Lemke, C. D., Elias, I. M., Chau, L. A., Kirchhof, M. G., Li, B., Ball, E. H., Dunn, S. D., Hatch, G. M., Madrenas, J.
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<strong>Stomatin-like protein 2 binds cardiolipin and regulates mitochondrial biogenesis and function.</strong>
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Molec. Cell. Biol. 31: 3845-3856, 2011.
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[PubMed: 21746876]
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[Full Text: https://doi.org/10.1128/MCB.05393-11]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Da Cruz, S., Parone, P. A., Gonzalo, P., Bienvenut, W. V., Tondera, D., Jourdain, A., Quadroni, M., Martinou, J.-C.
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<strong>SLP-2 interacts with prohibitins in the mitochondrial inner membrane and contributes to their stability.</strong>
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Biochim. Biophys. Acta 1783: 904-911, 2008.
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[PubMed: 18339324]
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[Full Text: https://doi.org/10.1016/j.bbamcr.2008.02.006]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Jupe, E. R., Badgett, A. A., Neas, B. R., Craft, M. A., Mitchell, D. S., Resta, R., Mulvihill, J. J., Aston, C. E., Thompson, L. F.
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<strong>Single nucleotide polymorphism in prohibitin 3-prime untranslated region and breast-cancer susceptibility.</strong>
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Lancet 357: 1588-1589, 2001.
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[PubMed: 11377649]
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[Full Text: https://doi.org/10.1016/s0140-6736(00)04747-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Jupe, E. R., Liu, X. T., Kiehlbauch, J. L., McClung, J. K., Dell'Orco, R. T.
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<strong>Prohibitin in breast cancer cell lines: loss of antiproliferative activity is linked to 3-prime untranslated region mutations.</strong>
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Cell Growth Diff. 7: 871-878, 1996.
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[PubMed: 8809404]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kolonin, M. G., Saha, P. K., Chan, L., Pasqualini, R., Arap, W.
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<strong>Reversal of obesity by targeted ablation of adipose tissue.</strong>
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Nature Med. 10: 625-632, 2004.
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[PubMed: 15133506]
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[Full Text: https://doi.org/10.1038/nm1048]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Rupnick, M. A., Panigrahy, D., Zhang, C.-Y., Dallabrida, S. M., Lowell, B. B., Langer, R., Folkman, M. J.
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<strong>Adipose tissue mass can be regulated through the vasculature.</strong>
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Proc. Nat. Acad. Sci. 99: 10730-10735, 2002.
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[PubMed: 12149466]
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[Full Text: https://doi.org/10.1073/pnas.162349799]
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<li>
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<p class="mim-text-font">
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Sato, T., Saito, H., Swensen, J., Olifant, A., Wood, C., Danner, D., Sakamoto, T., Takita, K., Kasumi, F., Miki, Y., Skolnick, M., Nakamura, Y.
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<strong>The human prohibitin gene located on chromosome 17q21 is mutated in sporadic breast cancer.</strong>
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Cancer Res. 52: 1643-1646, 1992.
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[PubMed: 1540973]
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</p>
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</li>
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<li>
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Sato, T., Sakamoto, T., Takita, K.-I., Saito, H., Okui, K., Nakamura, Y.
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<strong>The human prohibitin (PHB) gene family and its somatic mutations in human tumors.</strong>
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Genomics 17: 762-764, 1993.
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[PubMed: 8244394]
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[Full Text: https://doi.org/10.1006/geno.1993.1402]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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White, J. J., Ledbetter, D. H., Eddy, R. L., Jr., Shows, T. B., Stewart, D. A., Nuell, M. J., Friedman, V., Wood, C. M., Owens, G. A., McClung, J. K., Danner, D. B., Morton, C. C.
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<strong>Assignment of the human prohibitin gene (PHB) to chromosome 17 and identification of a DNA polymorphism.</strong>
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Genomics 11: 228-230, 1991. Note: Erratum: Genomics 11: 732 only, 1991.
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[PubMed: 1684951]
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[Full Text: https://doi.org/10.1016/0888-7543(91)90126-y]
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Patricia A. Hartz - updated : 2/20/2013<br>Ada Hamosh - updated : 11/5/2009<br>Victor A. McKusick - updated : 5/13/2004<br>Victor A. McKusick - updated : 5/31/2002
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<span class="mim-text-font">
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Victor A. McKusick : 8/6/1991
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carol : 08/29/2016<br>alopez : 05/05/2014<br>mgross : 2/20/2013<br>terry : 2/20/2013<br>carol : 9/24/2012<br>carol : 3/19/2010<br>wwang : 1/21/2010<br>alopez : 11/9/2009<br>alopez : 11/9/2009<br>terry : 11/5/2009<br>mgross : 1/16/2007<br>terry : 11/2/2004<br>alopez : 6/28/2004<br>terry : 5/20/2004<br>alopez : 5/13/2004<br>terry : 5/13/2004<br>terry : 1/2/2003<br>alopez : 6/18/2002<br>terry : 5/31/2002<br>mimadm : 2/25/1995<br>carol : 9/21/1993<br>carol : 7/13/1993<br>carol : 5/28/1993<br>carol : 5/27/1993<br>supermim : 3/16/1992
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