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Entry
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- *601119 - CASEINOLYTIC MITOCHONDRIAL MATRIX PEPTIDASE PROTEOLYTIC SUBUNIT; CLPP
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- OMIM
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<p>
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<span class="h4">*601119</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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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="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601119">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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</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 panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000125656;t=ENST00000245816" 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=8192" 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=601119" 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=ENSG00000125656;t=ENST00000245816" 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_006012,XM_047439486" 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_006012" 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=601119" 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=03074&isoform_id=03074_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/CLPP" 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/963048,3023512,5174419,12804197,119589509,134254694,189065189,2217323294" 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/Q16740" 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=8192" 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=ENSG00000125656;t=ENST00000245816" 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=CLPP" 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=CLPP" 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+8192" 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/CLPP" 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:8192" 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/8192" 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=chr19&hgg_gene=ENST00000245816.11&hgg_start=6361531&hgg_end=6370242&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2084" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2084" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/clpp" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601119[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=601119[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://www.deciphergenomics.org/gene/CLPP/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000125656" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=CLPP" 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=CLPP" 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=CLPP&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/PA26610" 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:2084" 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/FBgn0032229.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:1858213" 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/CLPP#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:1858213" 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/8192/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=8192" 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=WBGene00014172;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-030131-7860" 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://reactome.org/content/query?q=CLPP&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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601119
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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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CASEINOLYTIC MITOCHONDRIAL MATRIX PEPTIDASE PROTEOLYTIC SUBUNIT; CLPP
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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ClpP, E. COLI, HOMOLOG OF; CLPP
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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=CLPP" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CLPP</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/19/176?start=-3&limit=10&highlight=176">19p13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:6361531-6370242&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'})">19:6,361,531-6,370,242</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/19/176?start=-3&limit=10&highlight=176">
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19p13.3
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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">
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Perrault syndrome 3
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/614129"> 614129 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/601119" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/601119" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<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.">
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<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>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<p>CLPP (<a href="https://enzyme.expasy.org/EC/3.4.21.92" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.4.21.92</a>), a component of a mitochondrial ATP-dependent proteolytic complex, is a highly conserved endopeptidase and forms an element of the evolutionarily ancient mitochondrial unfolded-protein response stress signaling pathway (summary by <a href="#6" class="mim-tip-reference" title="Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others. <strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong> Am. J. Hum. Genet. 92: 605-613, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23541340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23541340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23541340[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23541340">Jenkinson et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23541340" 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>ATP-dependent proteases were first identified in E. coli. <a href="#2" class="mim-tip-reference" title="Bross, P., Andresen, B. S., Knudsen, I., Kruse, T. A., Gregersen, N. <strong>Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene.</strong> FEBS Lett. 377: 249-252, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8543061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8543061</a>] [<a href="https://doi.org/10.1016/0014-5793(95)01353-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8543061">Bross et al. (1995)</a> stated that one of these, called ClpAP or Ti, consists of a regulatory unit, ClpA, with chaperone characteristics and an ATPase domain, and a proteolytic subunit, ClpP. This protease is involved in ATP-dependent degradation of abnormal (i.e., incorrectly folded or unfolded) proteins. <a href="#2" class="mim-tip-reference" title="Bross, P., Andresen, B. S., Knudsen, I., Kruse, T. A., Gregersen, N. <strong>Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene.</strong> FEBS Lett. 377: 249-252, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8543061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8543061</a>] [<a href="https://doi.org/10.1016/0014-5793(95)01353-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8543061">Bross et al. (1995)</a> identified 3 overlapping human ESTs with significant homology to the E. coli ClpP amino acid sequence. With this sequence information, they applied RACE to amplify and sequence human CLPP cDNA. The open reading frame encodes a 277-amino acid precursor polypeptide. Northern blot analysis showed high relative expression levels of CLPP mRNA in skeletal muscle, intermediate levels in heart, liver, and pancreas, and low levels in brain, placenta, lung, and kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8543061" 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 analysis of human/rodent cell hybrids, <a href="#2" class="mim-tip-reference" title="Bross, P., Andresen, B. S., Knudsen, I., Kruse, T. A., Gregersen, N. <strong>Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene.</strong> FEBS Lett. 377: 249-252, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8543061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8543061</a>] [<a href="https://doi.org/10.1016/0014-5793(95)01353-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8543061">Bross et al. (1995)</a> mapped the human CLPP gene to chromosome 19. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8543061" 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="#10" class="mim-tip-reference" title="Santagata, S., Bhattacharyya, D., Wang, F.-H., Singha, N., Hodtsev, A., Spanopoulou, E. <strong>Molecular cloning and characterization of a mouse homolog of bacterial ClpX, a novel mammalian class II member of the Hsp100/Clp chaperone family.</strong> J. Biol. Chem. 274: 16311-16319, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10347188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10347188</a>] [<a href="https://doi.org/10.1074/jbc.274.23.16311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10347188">Santagata et al. (1999)</a> reported that the CLPP gene maps to chromosome 19q13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10347188" 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 electron microscopy, <a href="#8" class="mim-tip-reference" title="Kang, S. G., Ortega, J., Singh, S. K., Wang, N., Huang, N., Steven, A. C., Maurizi, M. R. <strong>Functional proteolytic complexes of the human mitochondrial ATP-dependent protease, hClpXP.</strong> J. Biol. Chem. 277: 21095-21102, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11923310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11923310</a>] [<a href="https://doi.org/10.1074/jbc.M201642200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11923310">Kang et al. (2002)</a> determined that purified recombinant human CLPP and CLPX (<a href="/entry/615611">615611</a>) formed heptameric and hexameric rings, respectively. The holoenzyme CLPXP contained 2 heptameric rings of CLPP bound on each side by a hexameric ring of CLPX. CLPXP was stable in the presence of ATP or a nonhydrolyzable ATP analog. In the absence of CLPX, CLPP showed proteolytic activity against protein substrates and a 10-residue E. coli ClpP substrate. Activity was enhanced in the presence of CLPX. E. coli or mouse Clpx interacted with human CLPP in functional complexes that had different substrate specificities than E. coli ClpXP holoenzymes. Mutation analysis revealed ser97 as the catalytic residue of CLPP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11923310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Kang, S. G., Dimitrova, M. N., Ortega, J., Ginsburg, A., Maurizi, M. R. <strong>Human mitochondrial ClpP is a stable heptamer that assembles into a tetradecamer in the presence of ClpX.</strong> J. Biol. Chem. 280: 35424-35432, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16115876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16115876</a>] [<a href="https://doi.org/10.1074/jbc.M507240200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16115876">Kang et al. (2005)</a> found that isolated human CLPP was a stable heptamer with an apparent molecular mass of 169.2 kD. The heptamer had no proteolytic activity and very low peptidase activity. In the presence of ATP, human CLPX interacted with CLPP, forming a complex with an apparent molecular mass of over 1 million Da. The CLPXP holoenzyme had protease activity and greatly increased peptidase activity, suggesting that interaction with CLPX affects the conformation of the CLPP catalytic active site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16115876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected individuals from 3 unrelated consanguineous Pakistani families with Perrault syndrome mapping to chromosome 19p13 (PRLTS3; <a href="/entry/614129">614129</a>), <a href="#6" class="mim-tip-reference" title="Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others. <strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong> Am. J. Hum. Genet. 92: 605-613, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23541340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23541340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23541340[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23541340">Jenkinson et al. (2013)</a> identified homozygosity for 2 missense mutations and 1 splice site mutation in the CLPP gene (<a href="#0001">601119.0001</a>-<a href="#0003">601119.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23541340" 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 2 affected sibs from a Turkish family with Perrault syndrome mapping to chromosome 19p13, <a href="#3" class="mim-tip-reference" title="Dursun, F., Mohamoud, H. S. A., Karim, N., Naeem, M., Jelani, M., Kirmizibekmez, H. <strong>A novel missense mutation in the CLPP gene causing Perrault syndrome type 3 in a Turkish family.</strong> J. Clin. Res. Pediat. Endocr. 8: 472-477, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087618</a>] [<a href="https://doi.org/10.4274/jcrpe.2717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27087618">Dursun et al. (2016)</a> identified homozygosity for a missense mutation in the CLPP gene (I208M; <a href="#0004">601119.0004</a>) that segregated with disease and was not found in controls or in public variant databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27087618" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Gispert, S., Parganlija, D., Klinkenberg, M., Drose, S., Wittig, I., Mittelbronn, M., Grzmil, P., Koob, S., Hamann, A., Walter, M., Buchel, F., Adler, T., de Angelis, M. H., Busch, D. H., Zell, A., Reichert, A. S., Brandt, U., Osiewacz, H. D., Jendrach, M., Auburger, G. <strong>Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.</strong> Hum. Molec. Genet. 22: 4871-4887, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23851121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23851121</a>] [<a href="https://doi.org/10.1093/hmg/ddt338" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23851121">Gispert et al. (2013)</a> obtained Clpp -/- mice in less than the expected mendelian ratio. Surviving Clpp -/- pups were similar in weight to wildtype littermates until weaning, but thereafter they showed slower weight gain and were smaller than wildtype as adults. Adult Clpp -/- mice of both sexes were completely infertile, showed reduced spontaneous motor activity, developed deafness, and died from natural causes earlier than wildtype. However, Clpp -/- mice were resistant to ulcerative dermatitis, which normally affects 5% of all mice with C57BL/6 background. Histologically, infertility in Clpp -/- males was accompanied by absence of spermatids and mature spermatozoa in testis. Infertility in Clpp -/- females was accompanied by reduced ratio of corpora lutea versus follicles before rupture. The number of mitochondrial complexes in Clpp -/- heart and liver were reduced compared with wildtype, but they were normal in Clpp -/- brain. Absence of Clpp was associated with elevated content of Clpx protein and other mitochondrial matrix chaperones, tissue-dependent dysregulation of nuclear-encoded genes, elevated mitochondrial DNA but measurable respiratory deficit, and strong activation of splenic T cells. <a href="#4" class="mim-tip-reference" title="Gispert, S., Parganlija, D., Klinkenberg, M., Drose, S., Wittig, I., Mittelbronn, M., Grzmil, P., Koob, S., Hamann, A., Walter, M., Buchel, F., Adler, T., de Angelis, M. H., Busch, D. H., Zell, A., Reichert, A. S., Brandt, U., Osiewacz, H. D., Jendrach, M., Auburger, G. <strong>Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.</strong> Hum. Molec. Genet. 22: 4871-4887, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23851121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23851121</a>] [<a href="https://doi.org/10.1093/hmg/ddt338" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23851121">Gispert et al. (2013)</a> hypothesized that the phenotype of Clpp -/- mice is consistent with deficient clearance of mitochondrial components and inflammatory tissue destruction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23851121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=601119[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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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> rs398123033 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398123033;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/rs398123033?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=rs398123033" 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=rs398123033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 affected sisters with Perrault syndrome (PRLTS3; <a href="/entry/614129">614129</a>) from a consanguineous British Pakistani family (PDF1) originally reported by <a href="#5" class="mim-tip-reference" title="Jenkinson, E. M., Clayton-Smith, J., Mehta, S., Bennett, C., Reardon, W., Green, A., Pearce, S. H. S., De Michele, G., Conway, G. S., Cilliers, D., Moreton, N., Davis, J. R. E., Trump, D., Newman, W. G. <strong>Perrault syndrome: further evidence for genetic heterogeneity.</strong> J. Neurol. 259: 974-976, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22037954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22037954</a>] [<a href="https://doi.org/10.1007/s00415-011-6285-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22037954">Jenkinson et al. (2012)</a>, <a href="#6" class="mim-tip-reference" title="Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others. <strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong> Am. J. Hum. Genet. 92: 605-613, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23541340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23541340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23541340[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23541340">Jenkinson et al. (2013)</a> identified homozygosity for a c.433A-C transversion in exon 4 of the CLPP gene, resulting in a thr145-to-pro (T145P) substitution at a highly conserved residue (chr19:6,364,528; GRCh37) within the beta-3 strand of the first beta sheet in the head region. The mutation segregated with disease in the family and was not found in 193 ethnically matched controls or in the NHLBI Exome Variant Server (ESP6500). In addition to profound congenital sensorineural hearing loss and premature ovarian failure, the sisters exhibited short stature, microcephaly, seizures, moderate learning difficulties, and truncal and cerebellar ataxia with signs of lower limb spasticity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22037954+23541340" 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> rs398123034 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398123034;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/rs398123034?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=rs398123034" 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=rs398123034" 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=RCV000049283 OR RCV002513676" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000049283, RCV002513676" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000049283...</a>
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<p>In 4 affected sisters with Perrault syndrome (PRLTS3; <a href="/entry/614129">614129</a>) from a consanguineous Pakistani family (PKDF291) previously reported by <a href="#1" class="mim-tip-reference" title="Ain, Q., Nazli, S., Riazuddin, S., Jaleel, A., Riazuddin, S. A., Zafar, A. U., Khan, S. N., Husnain, T., Griffith, A. J., Ahmed, Z. M., Friedman, T. B., Riazuddin, S. <strong>The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.</strong> Hum. Genet. 122: 445-450, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17690910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17690910</a>] [<a href="https://doi.org/10.1007/s00439-007-0418-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17690910">Ain et al. (2007)</a> and <a href="#9" class="mim-tip-reference" title="Rehman, A. U., Gul, K., Morell, R. J., Lee, K., Ahmed, Z. M., Riazuddin, S., Ali, R. A., Shahzad, M., Jaleel, A., Andrade, P. B., Khan, S. N., Khan, S., Brewer, C. C., Ahmad, W., Leal, S. M., Riazuddin, S., Friedman, T. B. <strong>Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.</strong> Hum. Genet. 130: 759-765, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21660509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21660509</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21660509[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/10.1007/s00439-011-1018-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21660509">Rehman et al. (2011)</a> as having DFNB81, <a href="#6" class="mim-tip-reference" title="Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others. <strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong> Am. J. Hum. Genet. 92: 605-613, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23541340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23541340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23541340[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23541340">Jenkinson et al. (2013)</a> identified homozygosity for a c.440G-C transversion in exon 4 of the CLPP gene, resulting in a cys147-to-ser (C147S) substitution at a highly conserved residue (chr19:6,364,535; GRCh37) within the beta-3 strand of the first beta sheet in the head region. The mutation segregated with disease in the family and was not found in 483 ethnically matched controls or in the NHLBI Exome Variant Server (ESP6500). In addition to hearing loss, the 4 affected sisters had primary amenorrhea and hypogonadism. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21660509+17690910+23541340" 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">rs398123035 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398123035;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs398123035" 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=rs398123035" 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=RCV000049284 OR RCV000201253 OR RCV002513677" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000049284, RCV000201253, RCV002513677" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000049284...</a>
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<p>In a brother and 2 sisters with features of Perrault syndrome (PRLTS3; <a href="/entry/614129">614129</a>) from a consanguineous Pakistani family (DEM4395), <a href="#6" class="mim-tip-reference" title="Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others. <strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong> Am. J. Hum. Genet. 92: 605-613, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23541340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23541340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23541340[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.02.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23541340">Jenkinson et al. (2013)</a> identified homozygosity for a c.270+4A-G transition in intron 2 of the CLPP gene (chr19:6,361,955; GRCh37), predicted to abolish the splice donor site of exon 2. Splicing assays in COS-7 cells suggested that the c.270+4A-G mutant allele does not fully ablate donor splice site function but rather weakens it. The variant was not found in 386 ethnically matched controls. The 3 affected sibs had profound congenital sensorineural hearing loss, but no additional self-reported medical problems; formal evaluation of hormone profiles was not possible. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23541340" 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">rs1555719766 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555719766;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1555719766" 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=rs1555719766" 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=RCV000656488" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000656488" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000656488</a>
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<p>In a Turkish sister and brother with Perrault syndrome (PRLTS3; <a href="/entry/614129">614129</a>), <a href="#3" class="mim-tip-reference" title="Dursun, F., Mohamoud, H. S. A., Karim, N., Naeem, M., Jelani, M., Kirmizibekmez, H. <strong>A novel missense mutation in the CLPP gene causing Perrault syndrome type 3 in a Turkish family.</strong> J. Clin. Res. Pediat. Endocr. 8: 472-477, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087618</a>] [<a href="https://doi.org/10.4274/jcrpe.2717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27087618">Dursun et al. (2016)</a> identified homozygosity for a c.624C-G transversion in exon 5 of the CLPP gene, resulting in an ile208-to-met (I208M) substitution. Their unaffected parents were both heterozygous for the mutation, which was not found in 100 controls or in the 1000 Genomes Project or ExAC databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27087618" 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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Ain, Q., Nazli, S., Riazuddin, S., Jaleel, A., Riazuddin, S. A., Zafar, A. U., Khan, S. N., Husnain, T., Griffith, A. J., Ahmed, Z. M., Friedman, T. B., Riazuddin, S.
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<strong>The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.</strong>
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Hum. Genet. 122: 445-450, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17690910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17690910</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17690910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Bross1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Bross, P., Andresen, B. S., Knudsen, I., Kruse, T. A., Gregersen, N.
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<strong>Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene.</strong>
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FEBS Lett. 377: 249-252, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8543061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8543061</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8543061" 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/10.1016/0014-5793(95)01353-9" target="_blank">Full Text</a>]
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</p>
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<a id="3" class="mim-anchor"></a>
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<a id="Dursun2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dursun, F., Mohamoud, H. S. A., Karim, N., Naeem, M., Jelani, M., Kirmizibekmez, H.
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<strong>A novel missense mutation in the CLPP gene causing Perrault syndrome type 3 in a Turkish family.</strong>
|
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J. Clin. Res. Pediat. Endocr. 8: 472-477, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087618</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27087618" 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/10.4274/jcrpe.2717" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Gispert2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gispert, S., Parganlija, D., Klinkenberg, M., Drose, S., Wittig, I., Mittelbronn, M., Grzmil, P., Koob, S., Hamann, A., Walter, M., Buchel, F., Adler, T., de Angelis, M. H., Busch, D. H., Zell, A., Reichert, A. S., Brandt, U., Osiewacz, H. D., Jendrach, M., Auburger, G.
|
|
<strong>Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.</strong>
|
|
Hum. Molec. Genet. 22: 4871-4887, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23851121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23851121</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23851121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddt338" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Jenkinson2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jenkinson, E. M., Clayton-Smith, J., Mehta, S., Bennett, C., Reardon, W., Green, A., Pearce, S. H. S., De Michele, G., Conway, G. S., Cilliers, D., Moreton, N., Davis, J. R. E., Trump, D., Newman, W. G.
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<strong>Perrault syndrome: further evidence for genetic heterogeneity.</strong>
|
|
J. Neurol. 259: 974-976, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22037954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22037954</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22037954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00415-011-6285-5" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Jenkinson2013" class="mim-anchor"></a>
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<div class="">
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Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others.
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<strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong>
|
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Am. J. Hum. Genet. 92: 605-613, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23541340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23541340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23541340[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=23541340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2013.02.013" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Kang2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kang, S. G., Dimitrova, M. N., Ortega, J., Ginsburg, A., Maurizi, M. R.
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<strong>Human mitochondrial ClpP is a stable heptamer that assembles into a tetradecamer in the presence of ClpX.</strong>
|
|
J. Biol. Chem. 280: 35424-35432, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16115876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16115876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16115876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M507240200" target="_blank">Full Text</a>]
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Kang2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kang, S. G., Ortega, J., Singh, S. K., Wang, N., Huang, N., Steven, A. C., Maurizi, M. R.
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<strong>Functional proteolytic complexes of the human mitochondrial ATP-dependent protease, hClpXP.</strong>
|
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J. Biol. Chem. 277: 21095-21102, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11923310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11923310</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11923310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M201642200" target="_blank">Full Text</a>]
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Rehman2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rehman, A. U., Gul, K., Morell, R. J., Lee, K., Ahmed, Z. M., Riazuddin, S., Ali, R. A., Shahzad, M., Jaleel, A., Andrade, P. B., Khan, S. N., Khan, S., Brewer, C. C., Ahmad, W., Leal, S. M., Riazuddin, S., Friedman, T. B.
|
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<strong>Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.</strong>
|
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Hum. Genet. 130: 759-765, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21660509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21660509</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21660509[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=21660509" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-011-1018-5" target="_blank">Full Text</a>]
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Santagata1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Santagata, S., Bhattacharyya, D., Wang, F.-H., Singha, N., Hodtsev, A., Spanopoulou, E.
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<strong>Molecular cloning and characterization of a mouse homolog of bacterial ClpX, a novel mammalian class II member of the Hsp100/Clp chaperone family.</strong>
|
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J. Biol. Chem. 274: 16311-16319, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10347188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10347188</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10347188" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.274.23.16311" target="_blank">Full Text</a>]
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</ol>
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<br />
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 06/12/2018
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 1/24/2014<br>Patricia A. Hartz - updated : 1/17/2014<br>Marla J. F. O'Neill - updated : 7/10/2013
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</span>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 3/11/1996
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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/13/2018
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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alopez : 06/12/2018<br>mgross : 01/27/2014<br>mcolton : 1/24/2014<br>mgross : 1/23/2014<br>mcolton : 1/17/2014<br>carol : 7/11/2013<br>carol : 7/10/2013<br>ckniffin : 6/13/2002<br>carol : 9/27/1999<br>mark : 3/11/1996
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</span>
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<span class="mim-font">
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<strong>*</strong> 601119
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<div>
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<h3>
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<span class="mim-font">
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CASEINOLYTIC MITOCHONDRIAL MATRIX PEPTIDASE PROTEOLYTIC SUBUNIT; CLPP
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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ClpP, E. COLI, HOMOLOG OF; CLPP
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CLPP</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 19p13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 19:6,361,531-6,370,242 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
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19p13.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Perrault syndrome 3
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</span>
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</td>
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<td>
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<span class="mim-font">
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614129
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>CLPP (EC 3.4.21.92), a component of a mitochondrial ATP-dependent proteolytic complex, is a highly conserved endopeptidase and forms an element of the evolutionarily ancient mitochondrial unfolded-protein response stress signaling pathway (summary by Jenkinson et al., 2013). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>ATP-dependent proteases were first identified in E. coli. Bross et al. (1995) stated that one of these, called ClpAP or Ti, consists of a regulatory unit, ClpA, with chaperone characteristics and an ATPase domain, and a proteolytic subunit, ClpP. This protease is involved in ATP-dependent degradation of abnormal (i.e., incorrectly folded or unfolded) proteins. Bross et al. (1995) identified 3 overlapping human ESTs with significant homology to the E. coli ClpP amino acid sequence. With this sequence information, they applied RACE to amplify and sequence human CLPP cDNA. The open reading frame encodes a 277-amino acid precursor polypeptide. Northern blot analysis showed high relative expression levels of CLPP mRNA in skeletal muscle, intermediate levels in heart, liver, and pancreas, and low levels in brain, placenta, lung, and kidney. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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<p>By analysis of human/rodent cell hybrids, Bross et al. (1995) mapped the human CLPP gene to chromosome 19. </p><p>Santagata et al. (1999) reported that the CLPP gene maps to chromosome 19q13. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>By electron microscopy, Kang et al. (2002) determined that purified recombinant human CLPP and CLPX (615611) formed heptameric and hexameric rings, respectively. The holoenzyme CLPXP contained 2 heptameric rings of CLPP bound on each side by a hexameric ring of CLPX. CLPXP was stable in the presence of ATP or a nonhydrolyzable ATP analog. In the absence of CLPX, CLPP showed proteolytic activity against protein substrates and a 10-residue E. coli ClpP substrate. Activity was enhanced in the presence of CLPX. E. coli or mouse Clpx interacted with human CLPP in functional complexes that had different substrate specificities than E. coli ClpXP holoenzymes. Mutation analysis revealed ser97 as the catalytic residue of CLPP. </p><p>Kang et al. (2005) found that isolated human CLPP was a stable heptamer with an apparent molecular mass of 169.2 kD. The heptamer had no proteolytic activity and very low peptidase activity. In the presence of ATP, human CLPX interacted with CLPP, forming a complex with an apparent molecular mass of over 1 million Da. The CLPXP holoenzyme had protease activity and greatly increased peptidase activity, suggesting that interaction with CLPX affects the conformation of the CLPP catalytic active site. </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>In affected individuals from 3 unrelated consanguineous Pakistani families with Perrault syndrome mapping to chromosome 19p13 (PRLTS3; 614129), Jenkinson et al. (2013) identified homozygosity for 2 missense mutations and 1 splice site mutation in the CLPP gene (601119.0001-601119.0003). </p><p>In 2 affected sibs from a Turkish family with Perrault syndrome mapping to chromosome 19p13, Dursun et al. (2016) identified homozygosity for a missense mutation in the CLPP gene (I208M; 601119.0004) that segregated with disease and was not found in controls or in public variant databases. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Gispert et al. (2013) obtained Clpp -/- mice in less than the expected mendelian ratio. Surviving Clpp -/- pups were similar in weight to wildtype littermates until weaning, but thereafter they showed slower weight gain and were smaller than wildtype as adults. Adult Clpp -/- mice of both sexes were completely infertile, showed reduced spontaneous motor activity, developed deafness, and died from natural causes earlier than wildtype. However, Clpp -/- mice were resistant to ulcerative dermatitis, which normally affects 5% of all mice with C57BL/6 background. Histologically, infertility in Clpp -/- males was accompanied by absence of spermatids and mature spermatozoa in testis. Infertility in Clpp -/- females was accompanied by reduced ratio of corpora lutea versus follicles before rupture. The number of mitochondrial complexes in Clpp -/- heart and liver were reduced compared with wildtype, but they were normal in Clpp -/- brain. Absence of Clpp was associated with elevated content of Clpx protein and other mitochondrial matrix chaperones, tissue-dependent dysregulation of nuclear-encoded genes, elevated mitochondrial DNA but measurable respiratory deficit, and strong activation of splenic T cells. Gispert et al. (2013) hypothesized that the phenotype of Clpp -/- mice is consistent with deficient clearance of mitochondrial components and inflammatory tissue destruction. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>4 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 PERRAULT SYNDROME 3</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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CLPP, THR145PRO
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<br />
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SNP: rs398123033,
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gnomAD: rs398123033,
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ClinVar: RCV000049282, RCV002513675
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 affected sisters with Perrault syndrome (PRLTS3; 614129) from a consanguineous British Pakistani family (PDF1) originally reported by Jenkinson et al. (2012), Jenkinson et al. (2013) identified homozygosity for a c.433A-C transversion in exon 4 of the CLPP gene, resulting in a thr145-to-pro (T145P) substitution at a highly conserved residue (chr19:6,364,528; GRCh37) within the beta-3 strand of the first beta sheet in the head region. The mutation segregated with disease in the family and was not found in 193 ethnically matched controls or in the NHLBI Exome Variant Server (ESP6500). In addition to profound congenital sensorineural hearing loss and premature ovarian failure, the sisters exhibited short stature, microcephaly, seizures, moderate learning difficulties, and truncal and cerebellar ataxia with signs of lower limb spasticity. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 PERRAULT SYNDROME 3</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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CLPP, CYS147SER
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<br />
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SNP: rs398123034,
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gnomAD: rs398123034,
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ClinVar: RCV000049283, RCV002513676
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 4 affected sisters with Perrault syndrome (PRLTS3; 614129) from a consanguineous Pakistani family (PKDF291) previously reported by Ain et al. (2007) and Rehman et al. (2011) as having DFNB81, Jenkinson et al. (2013) identified homozygosity for a c.440G-C transversion in exon 4 of the CLPP gene, resulting in a cys147-to-ser (C147S) substitution at a highly conserved residue (chr19:6,364,535; GRCh37) within the beta-3 strand of the first beta sheet in the head region. The mutation segregated with disease in the family and was not found in 483 ethnically matched controls or in the NHLBI Exome Variant Server (ESP6500). In addition to hearing loss, the 4 affected sisters had primary amenorrhea and hypogonadism. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 PERRAULT SYNDROME 3</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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CLPP, IVS2DS, A-G, +4
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<br />
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SNP: rs398123035,
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ClinVar: RCV000049284, RCV000201253, RCV002513677
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a brother and 2 sisters with features of Perrault syndrome (PRLTS3; 614129) from a consanguineous Pakistani family (DEM4395), Jenkinson et al. (2013) identified homozygosity for a c.270+4A-G transition in intron 2 of the CLPP gene (chr19:6,361,955; GRCh37), predicted to abolish the splice donor site of exon 2. Splicing assays in COS-7 cells suggested that the c.270+4A-G mutant allele does not fully ablate donor splice site function but rather weakens it. The variant was not found in 386 ethnically matched controls. The 3 affected sibs had profound congenital sensorineural hearing loss, but no additional self-reported medical problems; formal evaluation of hormone profiles was not possible. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>.0004 PERRAULT SYNDROME 3</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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CLPP, ILE208MET
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<br />
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SNP: rs1555719766,
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ClinVar: RCV000656488
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Turkish sister and brother with Perrault syndrome (PRLTS3; 614129), Dursun et al. (2016) identified homozygosity for a c.624C-G transversion in exon 5 of the CLPP gene, resulting in an ile208-to-met (I208M) substitution. Their unaffected parents were both heterozygous for the mutation, which was not found in 100 controls or in the 1000 Genomes Project or ExAC databases. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>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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Ain, Q., Nazli, S., Riazuddin, S., Jaleel, A., Riazuddin, S. A., Zafar, A. U., Khan, S. N., Husnain, T., Griffith, A. J., Ahmed, Z. M., Friedman, T. B., Riazuddin, S.
|
|
<strong>The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.</strong>
|
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Hum. Genet. 122: 445-450, 2007.
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[PubMed: 17690910]
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[Full Text: https://doi.org/10.1007/s00439-007-0418-z]
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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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Bross, P., Andresen, B. S., Knudsen, I., Kruse, T. A., Gregersen, N.
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<strong>Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene.</strong>
|
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FEBS Lett. 377: 249-252, 1995.
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[PubMed: 8543061]
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[Full Text: https://doi.org/10.1016/0014-5793(95)01353-9]
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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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Dursun, F., Mohamoud, H. S. A., Karim, N., Naeem, M., Jelani, M., Kirmizibekmez, H.
|
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<strong>A novel missense mutation in the CLPP gene causing Perrault syndrome type 3 in a Turkish family.</strong>
|
|
J. Clin. Res. Pediat. Endocr. 8: 472-477, 2016.
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[PubMed: 27087618]
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[Full Text: https://doi.org/10.4274/jcrpe.2717]
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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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Gispert, S., Parganlija, D., Klinkenberg, M., Drose, S., Wittig, I., Mittelbronn, M., Grzmil, P., Koob, S., Hamann, A., Walter, M., Buchel, F., Adler, T., de Angelis, M. H., Busch, D. H., Zell, A., Reichert, A. S., Brandt, U., Osiewacz, H. D., Jendrach, M., Auburger, G.
|
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<strong>Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.</strong>
|
|
Hum. Molec. Genet. 22: 4871-4887, 2013.
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[PubMed: 23851121]
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[Full Text: https://doi.org/10.1093/hmg/ddt338]
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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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Jenkinson, E. M., Clayton-Smith, J., Mehta, S., Bennett, C., Reardon, W., Green, A., Pearce, S. H. S., De Michele, G., Conway, G. S., Cilliers, D., Moreton, N., Davis, J. R. E., Trump, D., Newman, W. G.
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<strong>Perrault syndrome: further evidence for genetic heterogeneity.</strong>
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J. Neurol. 259: 974-976, 2012.
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[PubMed: 22037954]
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[Full Text: https://doi.org/10.1007/s00415-011-6285-5]
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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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Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others.
|
|
<strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong>
|
|
Am. J. Hum. Genet. 92: 605-613, 2013.
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[PubMed: 23541340]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.02.013]
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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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Kang, S. G., Dimitrova, M. N., Ortega, J., Ginsburg, A., Maurizi, M. R.
|
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<strong>Human mitochondrial ClpP is a stable heptamer that assembles into a tetradecamer in the presence of ClpX.</strong>
|
|
J. Biol. Chem. 280: 35424-35432, 2005.
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[PubMed: 16115876]
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[Full Text: https://doi.org/10.1074/jbc.M507240200]
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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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Kang, S. G., Ortega, J., Singh, S. K., Wang, N., Huang, N., Steven, A. C., Maurizi, M. R.
|
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<strong>Functional proteolytic complexes of the human mitochondrial ATP-dependent protease, hClpXP.</strong>
|
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J. Biol. Chem. 277: 21095-21102, 2002.
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[PubMed: 11923310]
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[Full Text: https://doi.org/10.1074/jbc.M201642200]
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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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Rehman, A. U., Gul, K., Morell, R. J., Lee, K., Ahmed, Z. M., Riazuddin, S., Ali, R. A., Shahzad, M., Jaleel, A., Andrade, P. B., Khan, S. N., Khan, S., Brewer, C. C., Ahmad, W., Leal, S. M., Riazuddin, S., Friedman, T. B.
|
|
<strong>Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.</strong>
|
|
Hum. Genet. 130: 759-765, 2011.
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[PubMed: 21660509]
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[Full Text: https://doi.org/10.1007/s00439-011-1018-5]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Santagata, S., Bhattacharyya, D., Wang, F.-H., Singha, N., Hodtsev, A., Spanopoulou, E.
|
|
<strong>Molecular cloning and characterization of a mouse homolog of bacterial ClpX, a novel mammalian class II member of the Hsp100/Clp chaperone family.</strong>
|
|
J. Biol. Chem. 274: 16311-16319, 1999.
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[PubMed: 10347188]
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[Full Text: https://doi.org/10.1074/jbc.274.23.16311]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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Marla J. F. O'Neill - updated : 06/12/2018<br>Patricia A. Hartz - updated : 1/24/2014<br>Patricia A. Hartz - updated : 1/17/2014<br>Marla J. F. O'Neill - updated : 7/10/2013
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carol : 06/13/2018<br>alopez : 06/12/2018<br>mgross : 01/27/2014<br>mcolton : 1/24/2014<br>mgross : 1/23/2014<br>mcolton : 1/17/2014<br>carol : 7/11/2013<br>carol : 7/10/2013<br>ckniffin : 6/13/2002<br>carol : 9/27/1999<br>mark : 3/11/1996
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