2688 lines
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Entry
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- *601791 - PEROXISOME BIOGENESIS FACTOR 14; PEX14
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- OMIM
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<p>
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<span class="h4">*601791</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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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601791">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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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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<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 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=ENSG00000142655;t=ENST00000356607" 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=5195" 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=601791" 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 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="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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<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=ENSG00000142655;t=ENST00000356607" 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_004565,XM_011541577,XM_011541578,XM_011541579,XM_011541580,XM_047422542,XM_047422543,XM_047422544,XM_047422545,XM_047422546" 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_004565" 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=601791" 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=03477&isoform_id=03477_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/PEX14" 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/3253296,4126966,4758896,6919940,13623453,17389647,47496589,49457119,119592065,119592066,119592067,189053626,193785593,221039610,221042106,767904629,767904631,767904633,767904635,2217268124,2217268127,2217268131,2217268133,2217268135,2462510042,2462510044,2462510046,2462510048,2462510050,2462510052,2462510054,2462510056,2462510058" 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/O75381" 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 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=5195" 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=ENSG00000142655;t=ENST00000356607" 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=PEX14" 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=PEX14" 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+5195" 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/PEX14" 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:5195" 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/5195" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000356607.9&hgg_start=10474950&hgg_end=10630758&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 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:8856" 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:8856" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601791[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=601791[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000142655" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=PEX14" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=PEX14" 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=PEX14" 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="http://www.dbpex.org/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PEX14&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/PA33198" 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:8856" 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/FBgn0037020.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:1927868" 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/PEX14#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:1927868" 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/5195/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=5195" 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=WBGene00004199;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-060130-169" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5195" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=PEX14&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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601791
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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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PEROXISOME BIOGENESIS FACTOR 14; PEX14
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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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PEROXIN 14<br />
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NFE2-ASSOCIATED POLYPEPTIDE 2; NAPP2
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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=PEX14" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PEX14</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/1/140?start=-3&limit=10&highlight=140">1p36.22</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:10474950-10630758&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:10,474,950-10,630,758</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/1/140?start=-3&limit=10&highlight=140">
|
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1p36.22
|
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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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Peroxisome biogenesis disorder 13A (Zellweger)
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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/614887"> 614887 </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">
|
|
PheneGene Graphics <span class="caret"></span>
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/601791" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601791" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<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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<p>Working with Saccharomyces cerevisiae, <a href="#1" class="mim-tip-reference" title="Albertini, M., Rehling, P., Erdmann, R., Girzalsky, W., Kiel, J. A. K.. W., Veenhuis, M., Kunau, W.-H. <strong>Pex14p, a peroxisomal membrane protein binding both receptors of the two PTS-dependent import pathways.</strong> Cell 89: 83-92, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9094717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9094717</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80185-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9094717">Albertini et al. (1997)</a> described peroxin-14 (PEX14), the first membrane-bound peroxisomal protein that binds to the peroxisomal type-2 targeting signal (PTS2) receptor, PEX7 (<a href="/entry/601757">601757</a>). Thus, the PEX14 protein may represent the functional docking site for PTS2-dependent protein import to the peroxisome. In addition to the interaction with the PTS2 receptor, PEX14 protein was found to interact with PEX5 protein (<a href="/entry/600414">600414</a>), the PTS1 receptor. This observation suggested the overlapping of 2 import pathways, with PEX14 being the point of convergence. Moreover, PEX14 also interacted with 2 other membrane-bound peroxins, including the SH3 domain protein PEX13 (<a href="/entry/601789">601789</a>), the putative docking protein for PTS1-dependent protein import. <a href="#1" class="mim-tip-reference" title="Albertini, M., Rehling, P., Erdmann, R., Girzalsky, W., Kiel, J. A. K.. W., Veenhuis, M., Kunau, W.-H. <strong>Pex14p, a peroxisomal membrane protein binding both receptors of the two PTS-dependent import pathways.</strong> Cell 89: 83-92, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9094717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9094717</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80185-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9094717">Albertini et al. (1997)</a> proposed that these 3 peroxins are components of a common translocation machinery. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9094717" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using yeast Pex14 sequences to probe EST databases, <a href="#2" class="mim-tip-reference" title="Fransen, M., Terlecky, S. R., Subramani, S. <strong>Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import.</strong> Proc. Nat. Acad. Sci. 95: 8087-8092, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9653144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9653144</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9653144[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.95.14.8087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9653144">Fransen et al. (1998)</a> identified a cDNA encoding PEX14. The deduced 377-amino acid protein contains a nonmembrane-spanning hydrophobic region, a coiled-coil region, and a charged, acidic C terminus; it has no class II SH3-binding motif. Western blot analysis showed expression of a 57-kD protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9653144" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By searching an EST database using S. cerevisiae Pex14 as query, <a href="#7" class="mim-tip-reference" title="Will, G. K., Soukupova, M., Hong, X., Erdmann, K. S., Kiel, J. A. K. W., Dodt, G., Kunau, W.-H., Erdmann, R. <strong>Identification and characterization of the human orthologue of yeast Pex14p.</strong> Molec. Cell. Biol. 19: 2265-2277, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10022913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10022913</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10022913[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.19.3.2265" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10022913">Will et al. (1999)</a> identified a cDNA encoding PEX14 in a breast cell library. The deduced protein contains 2 conserved coiled-coil region and has a calculated molecular mass of about 41 kD. The human and yeast proteins share 26% identity. Northern blot analysis revealed expression of a 2.1-kb transcript in all tissues examined. Western blot analysis of human fibroblast and in vitro translated protein revealed an apparent molecular mass of about 55 kD, which may reflect its high content of acidic amino acids. Immunofluorescence microscopy revealed colocalization with peroxisomal catalase. PEX14 was found in the particulate fraction of fractionated cells and resisted salt or alkali extraction, suggesting that it is an integral membrane protein. Protease protection assays indicated that the C terminus is cytosolic and that the N terminus likely protrudes into the peroxisomal lumen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10022913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Gavva, N. R., Wen, S.-C., Daftari, P., Moniwa, M., Yang, W.-M., Yang-Feng, L.-P. T., Seto, E., Davie, J. R., Shen, C.-K. J. <strong>NAPP2, a peroxisomal membrane protein, is also a transcriptional corepressor.</strong> Genomics 79: 423-431, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11863372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11863372</a>] [<a href="https://doi.org/10.1006/geno.2002.6714" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11863372">Gavva et al. (2002)</a> identified PEX14, which they called NAPP2, as a protein in an erythroleukemia expression library that interacted with nuclear factor erythroid-2 (NFE2; <a href="/entry/601490">601490</a>). Northern blot analysis revealed a transcript of about 2 kb expressed in all cell lines tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11863372" 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>Ligand blot analysis by <a href="#2" class="mim-tip-reference" title="Fransen, M., Terlecky, S. R., Subramani, S. <strong>Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import.</strong> Proc. Nat. Acad. Sci. 95: 8087-8092, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9653144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9653144</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9653144[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.95.14.8087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9653144">Fransen et al. (1998)</a> determined that PEX14 binds to both the PTS1 receptor (PEX5) and weakly with the SH3 domain of PEX13. Biochemical analysis indicated that PEX14 is required for the import of PTS1-containing proteins into peroxisomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9653144" 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="Will, G. K., Soukupova, M., Hong, X., Erdmann, K. S., Kiel, J. A. K. W., Dodt, G., Kunau, W.-H., Erdmann, R. <strong>Identification and characterization of the human orthologue of yeast Pex14p.</strong> Molec. Cell. Biol. 19: 2265-2277, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10022913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10022913</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10022913[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.19.3.2265" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10022913">Will et al. (1999)</a> found that Pex14 deficiency in S. cerevisiae could not be rescued by expression of human PEX14, indicating that the proteins are not functionally interchangeable. Overexpression of PEX14 in normal skin fibroblasts led to the decoration of tubular structures and mislocalization of peroxisomal catalase to the cytosol. Unlike the findings in yeast, PEX14 did not form homooligomers or interact with PTS2 receptor or PEX13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10022913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By in vitro binding assays of truncated recombinant proteins, <a href="#3" class="mim-tip-reference" title="Gavva, N. R., Wen, S.-C., Daftari, P., Moniwa, M., Yang, W.-M., Yang-Feng, L.-P. T., Seto, E., Davie, J. R., Shen, C.-K. J. <strong>NAPP2, a peroxisomal membrane protein, is also a transcriptional corepressor.</strong> Genomics 79: 423-431, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11863372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11863372</a>] [<a href="https://doi.org/10.1006/geno.2002.6714" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11863372">Gavva et al. (2002)</a> found that interaction between PEX14 and NFE2 occurs through the N-terminal 203 amino acids of PEX14 and the N-terminal 114 amino acids of NFE2. Expression of PEX14 inhibited NFE2-directed transcriptional activation. PEX14 also functioned as a corepressor and interacted specifically with HDAC1 (<a href="/entry/601241">601241</a>), but not with HDAC2 (<a href="/entry/605164">605164</a>) or HDAC3 (<a href="/entry/605166">605166</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11863372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Sugiura, A., Mattie, S., Prudent, J., McBride, H. M. <strong>Newly born peroxisomes are a hybrid of mitochondrial and ER-derived pre-peroxisomes.</strong> Nature 542: 251-254, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28146471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28146471</a>] [<a href="https://doi.org/10.1038/nature21375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28146471">Sugiura et al. (2017)</a> followed the generation of new peroxisomes within human patient fibroblasts lacking peroxisomes and showed that the essential import receptors Pex3 (<a href="/entry/603164">603164</a>) and Pex14 target mitochondria, where they are selectively released into vesicular pre-peroxisomal structures. Maturation of pre-peroxisomes containing Pex3 and Pex14 requires fusion with endoplasmic reticulum-derived vesicles carrying Pex16 (<a href="/entry/603360">603360</a>), thereby providing full import competence. <a href="#6" class="mim-tip-reference" title="Sugiura, A., Mattie, S., Prudent, J., McBride, H. M. <strong>Newly born peroxisomes are a hybrid of mitochondrial and ER-derived pre-peroxisomes.</strong> Nature 542: 251-254, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28146471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28146471</a>] [<a href="https://doi.org/10.1038/nature21375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28146471">Sugiura et al. (2017)</a> concluded that their findings demonstrated the hybrid nature of newly born peroxisomes, expanding their functional links to mitochondria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28146471" 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 FISH, <a href="#3" class="mim-tip-reference" title="Gavva, N. R., Wen, S.-C., Daftari, P., Moniwa, M., Yang, W.-M., Yang-Feng, L.-P. T., Seto, E., Davie, J. R., Shen, C.-K. J. <strong>NAPP2, a peroxisomal membrane protein, is also a transcriptional corepressor.</strong> Genomics 79: 423-431, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11863372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11863372</a>] [<a href="https://doi.org/10.1006/geno.2002.6714" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11863372">Gavva et al. (2002)</a> mapped the PEX14 gene to chromosome 1p36. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11863372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with Zellweger syndrome (PBD13A; <a href="/entry/614887">614887</a>), <a href="#5" class="mim-tip-reference" title="Shimozawa, N., Tsukamoto, T., Nagase, T., Takemoto, Y., Koyama, N., Suzuki, Y., Komori, M., Osumi, T., Jeannette, G., Wanders, R. J. A., Kondo, N. <strong>Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.</strong> Hum. Mutat. 23: 552-558, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15146459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15146459</a>] [<a href="https://doi.org/10.1002/humu.20032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15146459">Shimozawa et al. (2004)</a> identified a gln185-to-ter mutation in the PEX14 gene (Q185X; <a href="#0001">601791.0001</a>). Although PEX14 mutants had been identified in yeast and in Chinese hamster ovary (CHO) cells, this was said to be the first reported case of human PEX14 deficiency. <a href="#5" class="mim-tip-reference" title="Shimozawa, N., Tsukamoto, T., Nagase, T., Takemoto, Y., Koyama, N., Suzuki, Y., Komori, M., Osumi, T., Jeannette, G., Wanders, R. J. A., Kondo, N. <strong>Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.</strong> Hum. Mutat. 23: 552-558, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15146459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15146459</a>] [<a href="https://doi.org/10.1002/humu.20032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15146459">Shimozawa et al. (2004)</a> stated that PEX14 is a member of the complementation group of peroxisome biogenesis disorders, and designated it complementation group K. PEX14 rescued the import of a PTS1-dependent as well as a PTS2-dependent protein into the peroxisomes in fibroblasts from the patient. The patient's fibroblasts lacked PEX14, as determined by immunocytochemical analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15146459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0001 PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)</strong>
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PEX14, GLN185TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs61752116 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752116;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=rs61752116" 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=rs61752116" 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=RCV000008140" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008140" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008140</a>
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<p>In an infant with Zellweger syndrome (PBD13A; <a href="/entry/614887">614887</a>), <a href="#5" class="mim-tip-reference" title="Shimozawa, N., Tsukamoto, T., Nagase, T., Takemoto, Y., Koyama, N., Suzuki, Y., Komori, M., Osumi, T., Jeannette, G., Wanders, R. J. A., Kondo, N. <strong>Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.</strong> Hum. Mutat. 23: 552-558, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15146459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15146459</a>] [<a href="https://doi.org/10.1002/humu.20032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15146459">Shimozawa et al. (2004)</a> identified a homozygous 553C-T transition in the PEX14 gene, resulting in a gln185-to-ter (Q185X) substitution in a putative coiled-coil region of the protein. At birth the patient showed typical craniofacial dysmorphia of Zellweger syndrome, including large open fontanels, high forehead, flat occiput, low/broad nasal bridge, and micrognathia, as well as neurologic abnormalities including hypotonia. Plasma analysis showed elevated very long chain fatty acids (VLCFA) and di- and trihydroxycholestanoic acid, and a normal phytanic acid level. Erythrocyte plasmalogens were undetectable. The patient died at 10 days of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15146459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)</strong>
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PEX14, 41-KB DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008141" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008141" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008141</a>
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<p>In a Pakistani patient with Zellweger syndrome (PBD13A; <a href="/entry/614887">614887</a>), born of related parents, <a href="#4" class="mim-tip-reference" title="Huybrechts, S. J., Van Veldhoven, P. P., Hoffman, I., Zeevaert, R., de Vos, R., Demaerel, P., Brams, M., Jaeken, J., Fransen, M., Cassiman, D. <strong>Identification of a novel PEX14 mutation in Zellweger syndrome. (Letter)</strong> J. Med. Genet. 45: 376-383, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18285423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18285423</a>] [<a href="https://doi.org/10.1136/jmg.2007.056697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18285423">Huybrechts et al. (2008)</a> identified a homozygous 41-kb deletion in the PEX14 gene, resulting in the deletion of exon 3, frameshift, and premature protein truncation. Cultured skin fibroblasts from the patient showed absence of PEX14 protein and absence of normal peroxisomes. The patient had severe cholestasis and hepatomegaly, neuronal migration defect, and progressive hypotonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18285423" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Albertini1997" class="mim-anchor"></a>
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Albertini, M., Rehling, P., Erdmann, R., Girzalsky, W., Kiel, J. A. K.. W., Veenhuis, M., Kunau, W.-H.
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<strong>Pex14p, a peroxisomal membrane protein binding both receptors of the two PTS-dependent import pathways.</strong>
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Cell 89: 83-92, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9094717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9094717</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9094717" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(00)80185-3" target="_blank">Full Text</a>]
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<a id="Fransen1998" class="mim-anchor"></a>
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Fransen, M., Terlecky, S. R., Subramani, S.
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<strong>Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import.</strong>
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Proc. Nat. Acad. Sci. 95: 8087-8092, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9653144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9653144</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9653144[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=9653144" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.95.14.8087" target="_blank">Full Text</a>]
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<a id="Gavva2002" class="mim-anchor"></a>
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Gavva, N. R., Wen, S.-C., Daftari, P., Moniwa, M., Yang, W.-M., Yang-Feng, L.-P. T., Seto, E., Davie, J. R., Shen, C.-K. J.
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<strong>NAPP2, a peroxisomal membrane protein, is also a transcriptional corepressor.</strong>
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Genomics 79: 423-431, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11863372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11863372</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11863372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.2002.6714" target="_blank">Full Text</a>]
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<a id="Huybrechts2008" class="mim-anchor"></a>
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Huybrechts, S. J., Van Veldhoven, P. P., Hoffman, I., Zeevaert, R., de Vos, R., Demaerel, P., Brams, M., Jaeken, J., Fransen, M., Cassiman, D.
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<strong>Identification of a novel PEX14 mutation in Zellweger syndrome. (Letter)</strong>
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J. Med. Genet. 45: 376-383, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18285423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18285423</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18285423" 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/10.1136/jmg.2007.056697" target="_blank">Full Text</a>]
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<a id="Shimozawa2004" class="mim-anchor"></a>
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Shimozawa, N., Tsukamoto, T., Nagase, T., Takemoto, Y., Koyama, N., Suzuki, Y., Komori, M., Osumi, T., Jeannette, G., Wanders, R. J. A., Kondo, N.
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<strong>Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.</strong>
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Hum. Mutat. 23: 552-558, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15146459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15146459</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15146459" 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/10.1002/humu.20032" target="_blank">Full Text</a>]
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<a id="Sugiura2017" class="mim-anchor"></a>
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Sugiura, A., Mattie, S., Prudent, J., McBride, H. M.
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<strong>Newly born peroxisomes are a hybrid of mitochondrial and ER-derived pre-peroxisomes.</strong>
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Nature 542: 251-254, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28146471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28146471</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28146471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature21375" target="_blank">Full Text</a>]
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<a id="Will1999" class="mim-anchor"></a>
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Will, G. K., Soukupova, M., Hong, X., Erdmann, K. S., Kiel, J. A. K. W., Dodt, G., Kunau, W.-H., Erdmann, R.
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<strong>Identification and characterization of the human orthologue of yeast Pex14p.</strong>
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Molec. Cell. Biol. 19: 2265-2277, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10022913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10022913</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10022913[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=10022913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/MCB.19.3.2265" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 09/10/2019
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Cassandra L. Kniffin - updated : 10/2/2008<br>Victor A. McKusick - updated : 6/15/2004<br>Patricia A. Hartz - updated : 12/16/2002<br>Paul J. Converse - updated : 4/11/2002<br>David Valle - edited : 6/23/1997
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Victor A. McKusick : 5/5/1997
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alopez : 10/25/2012<br>alopez : 10/24/2012<br>wwang : 10/8/2008<br>ckniffin : 10/2/2008<br>carol : 7/16/2008<br>tkritzer : 1/20/2005<br>tkritzer : 7/28/2004<br>terry : 6/15/2004<br>mgross : 1/3/2003<br>terry : 12/16/2002<br>carol : 10/25/2002<br>mgross : 4/11/2002<br>psherman : 10/21/1998<br>psherman : 10/20/1998<br>dkim : 7/2/1998<br>mark : 6/23/1997<br>joanna : 6/23/1997<br>mark : 5/5/1997
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 601791
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PEROXISOME BIOGENESIS FACTOR 14; PEX14
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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PEROXIN 14<br />
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NFE2-ASSOCIATED POLYPEPTIDE 2; NAPP2
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PEX14</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 1p36.22
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:10,474,950-10,630,758 </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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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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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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1p36.22
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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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Peroxisome biogenesis disorder 13A (Zellweger)
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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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614887
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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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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Working with Saccharomyces cerevisiae, Albertini et al. (1997) described peroxin-14 (PEX14), the first membrane-bound peroxisomal protein that binds to the peroxisomal type-2 targeting signal (PTS2) receptor, PEX7 (601757). Thus, the PEX14 protein may represent the functional docking site for PTS2-dependent protein import to the peroxisome. In addition to the interaction with the PTS2 receptor, PEX14 protein was found to interact with PEX5 protein (600414), the PTS1 receptor. This observation suggested the overlapping of 2 import pathways, with PEX14 being the point of convergence. Moreover, PEX14 also interacted with 2 other membrane-bound peroxins, including the SH3 domain protein PEX13 (601789), the putative docking protein for PTS1-dependent protein import. Albertini et al. (1997) proposed that these 3 peroxins are components of a common translocation machinery. </p><p>Using yeast Pex14 sequences to probe EST databases, Fransen et al. (1998) identified a cDNA encoding PEX14. The deduced 377-amino acid protein contains a nonmembrane-spanning hydrophobic region, a coiled-coil region, and a charged, acidic C terminus; it has no class II SH3-binding motif. Western blot analysis showed expression of a 57-kD protein. </p><p>By searching an EST database using S. cerevisiae Pex14 as query, Will et al. (1999) identified a cDNA encoding PEX14 in a breast cell library. The deduced protein contains 2 conserved coiled-coil region and has a calculated molecular mass of about 41 kD. The human and yeast proteins share 26% identity. Northern blot analysis revealed expression of a 2.1-kb transcript in all tissues examined. Western blot analysis of human fibroblast and in vitro translated protein revealed an apparent molecular mass of about 55 kD, which may reflect its high content of acidic amino acids. Immunofluorescence microscopy revealed colocalization with peroxisomal catalase. PEX14 was found in the particulate fraction of fractionated cells and resisted salt or alkali extraction, suggesting that it is an integral membrane protein. Protease protection assays indicated that the C terminus is cytosolic and that the N terminus likely protrudes into the peroxisomal lumen. </p><p>Gavva et al. (2002) identified PEX14, which they called NAPP2, as a protein in an erythroleukemia expression library that interacted with nuclear factor erythroid-2 (NFE2; 601490). Northern blot analysis revealed a transcript of about 2 kb expressed in all cell lines tested. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ligand blot analysis by Fransen et al. (1998) determined that PEX14 binds to both the PTS1 receptor (PEX5) and weakly with the SH3 domain of PEX13. Biochemical analysis indicated that PEX14 is required for the import of PTS1-containing proteins into peroxisomes. </p><p>Will et al. (1999) found that Pex14 deficiency in S. cerevisiae could not be rescued by expression of human PEX14, indicating that the proteins are not functionally interchangeable. Overexpression of PEX14 in normal skin fibroblasts led to the decoration of tubular structures and mislocalization of peroxisomal catalase to the cytosol. Unlike the findings in yeast, PEX14 did not form homooligomers or interact with PTS2 receptor or PEX13. </p><p>By in vitro binding assays of truncated recombinant proteins, Gavva et al. (2002) found that interaction between PEX14 and NFE2 occurs through the N-terminal 203 amino acids of PEX14 and the N-terminal 114 amino acids of NFE2. Expression of PEX14 inhibited NFE2-directed transcriptional activation. PEX14 also functioned as a corepressor and interacted specifically with HDAC1 (601241), but not with HDAC2 (605164) or HDAC3 (605166). </p><p>Sugiura et al. (2017) followed the generation of new peroxisomes within human patient fibroblasts lacking peroxisomes and showed that the essential import receptors Pex3 (603164) and Pex14 target mitochondria, where they are selectively released into vesicular pre-peroxisomal structures. Maturation of pre-peroxisomes containing Pex3 and Pex14 requires fusion with endoplasmic reticulum-derived vesicles carrying Pex16 (603360), thereby providing full import competence. Sugiura et al. (2017) concluded that their findings demonstrated the hybrid nature of newly born peroxisomes, expanding their functional links to mitochondria. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By FISH, Gavva et al. (2002) mapped the PEX14 gene to chromosome 1p36. </p>
|
|
</span>
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>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">
|
|
<p>In a patient with Zellweger syndrome (PBD13A; 614887), Shimozawa et al. (2004) identified a gln185-to-ter mutation in the PEX14 gene (Q185X; 601791.0001). Although PEX14 mutants had been identified in yeast and in Chinese hamster ovary (CHO) cells, this was said to be the first reported case of human PEX14 deficiency. Shimozawa et al. (2004) stated that PEX14 is a member of the complementation group of peroxisome biogenesis disorders, and designated it complementation group K. PEX14 rescued the import of a PTS1-dependent as well as a PTS2-dependent protein into the peroxisomes in fibroblasts from the patient. The patient's fibroblasts lacked PEX14, as determined by immunocytochemical analysis. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>2 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
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|
|
PEX14, GLN185TER
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|
|
|
|
<br />
|
|
|
|
SNP: rs61752116,
|
|
|
|
|
|
|
|
ClinVar: RCV000008140
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an infant with Zellweger syndrome (PBD13A; 614887), Shimozawa et al. (2004) identified a homozygous 553C-T transition in the PEX14 gene, resulting in a gln185-to-ter (Q185X) substitution in a putative coiled-coil region of the protein. At birth the patient showed typical craniofacial dysmorphia of Zellweger syndrome, including large open fontanels, high forehead, flat occiput, low/broad nasal bridge, and micrognathia, as well as neurologic abnormalities including hypotonia. Plasma analysis showed elevated very long chain fatty acids (VLCFA) and di- and trihydroxycholestanoic acid, and a normal phytanic acid level. Erythrocyte plasmalogens were undetectable. The patient died at 10 days of age. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX14, 41-KB DEL
|
|
|
|
|
|
<br />
|
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|
|
|
|
ClinVar: RCV000008141
|
|
|
|
|
|
</span>
|
|
</div>
|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Pakistani patient with Zellweger syndrome (PBD13A; 614887), born of related parents, Huybrechts et al. (2008) identified a homozygous 41-kb deletion in the PEX14 gene, resulting in the deletion of exon 3, frameshift, and premature protein truncation. Cultured skin fibroblasts from the patient showed absence of PEX14 protein and absence of normal peroxisomes. The patient had severe cholestasis and hepatomegaly, neuronal migration defect, and progressive hypotonia. </p>
|
|
</span>
|
|
</div>
|
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Albertini, M., Rehling, P., Erdmann, R., Girzalsky, W., Kiel, J. A. K.. W., Veenhuis, M., Kunau, W.-H.
|
|
<strong>Pex14p, a peroxisomal membrane protein binding both receptors of the two PTS-dependent import pathways.</strong>
|
|
Cell 89: 83-92, 1997.
|
|
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|
|
[PubMed: 9094717]
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|
|
[Full Text: https://doi.org/10.1016/s0092-8674(00)80185-3]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fransen, M., Terlecky, S. R., Subramani, S.
|
|
<strong>Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import.</strong>
|
|
Proc. Nat. Acad. Sci. 95: 8087-8092, 1998.
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|
|
[PubMed: 9653144]
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[Full Text: https://doi.org/10.1073/pnas.95.14.8087]
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</p>
|
|
</li>
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gavva, N. R., Wen, S.-C., Daftari, P., Moniwa, M., Yang, W.-M., Yang-Feng, L.-P. T., Seto, E., Davie, J. R., Shen, C.-K. J.
|
|
<strong>NAPP2, a peroxisomal membrane protein, is also a transcriptional corepressor.</strong>
|
|
Genomics 79: 423-431, 2002.
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|
|
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|
|
[PubMed: 11863372]
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[Full Text: https://doi.org/10.1006/geno.2002.6714]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Huybrechts, S. J., Van Veldhoven, P. P., Hoffman, I., Zeevaert, R., de Vos, R., Demaerel, P., Brams, M., Jaeken, J., Fransen, M., Cassiman, D.
|
|
<strong>Identification of a novel PEX14 mutation in Zellweger syndrome. (Letter)</strong>
|
|
J. Med. Genet. 45: 376-383, 2008.
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|
|
[PubMed: 18285423]
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|
|
[Full Text: https://doi.org/10.1136/jmg.2007.056697]
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|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shimozawa, N., Tsukamoto, T., Nagase, T., Takemoto, Y., Koyama, N., Suzuki, Y., Komori, M., Osumi, T., Jeannette, G., Wanders, R. J. A., Kondo, N.
|
|
<strong>Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.</strong>
|
|
Hum. Mutat. 23: 552-558, 2004.
|
|
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|
|
[PubMed: 15146459]
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|
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[Full Text: https://doi.org/10.1002/humu.20032]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Sugiura, A., Mattie, S., Prudent, J., McBride, H. M.
|
|
<strong>Newly born peroxisomes are a hybrid of mitochondrial and ER-derived pre-peroxisomes.</strong>
|
|
Nature 542: 251-254, 2017.
|
|
|
|
|
|
[PubMed: 28146471]
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|
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|
|
[Full Text: https://doi.org/10.1038/nature21375]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Will, G. K., Soukupova, M., Hong, X., Erdmann, K. S., Kiel, J. A. K. W., Dodt, G., Kunau, W.-H., Erdmann, R.
|
|
<strong>Identification and characterization of the human orthologue of yeast Pex14p.</strong>
|
|
Molec. Cell. Biol. 19: 2265-2277, 1999.
|
|
|
|
|
|
[PubMed: 10022913]
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|
|
[Full Text: https://doi.org/10.1128/MCB.19.3.2265]
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</p>
|
|
</li>
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</ol>
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<div>
|
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<br />
|
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</div>
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</div>
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</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Ada Hamosh - updated : 09/10/2019<br>Cassandra L. Kniffin - updated : 10/2/2008<br>Victor A. McKusick - updated : 6/15/2004<br>Patricia A. Hartz - updated : 12/16/2002<br>Paul J. Converse - updated : 4/11/2002<br>David Valle - edited : 6/23/1997
|
|
</span>
|
|
</div>
|
|
</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>
|
|
<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 5/5/1997
|
|
</span>
|
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</div>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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