3632 lines
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Entry
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- *608666 - PEROXISOME BIOGENESIS FACTOR 26; PEX26
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*608666</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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="#animalModel">Animal Model</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/608666">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000215193;t=ENST00000399744" 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=55670" 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=608666" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000215193;t=ENST00000399744" 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_001127649,NM_001199319,NM_017929" 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_001127649" 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=608666" 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=10559&isoform_id=10559_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/PEX26" 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/7019909,7020955,8923625,16740833,28704110,29420789,32400631,32400633,32400635,32400637,32400639,32400641,32400643,47606028,47678255,84570615,84570617,84570619,84570621,84570623,119578186,119578187,119578188,189083737,313482834,957951342,957951345" 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/Q7Z412" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=55670" 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=ENSG00000215193;t=ENST00000399744" 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=PEX26" 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=PEX26" 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+55670" 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/PEX26" 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:55670" 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/55670" 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=chr22&hgg_gene=ENST00000399744.8&hgg_start=18077990&hgg_end=18105396&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:22965" 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:22965" 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=608666[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=608666[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/ENSG00000215193" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=PEX26" 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=PEX26" 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=PEX26&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/PA134983458" 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:22965" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1921293" 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/PEX26#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:1921293" 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/55670/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=55670" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-6584" 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="mimCellLines">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:608666" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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:55670" 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=PEX26&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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608666
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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 26; PEX26
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</span>
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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PEROXIN 26
|
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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=PEX26" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PEX26</a></em></strong>
|
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/22/26?start=-3&limit=10&highlight=26">22q11.21</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr22:18077990-18105396&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'})">22:18,077,990-18,105,396</a> </span>
|
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<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>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614872,614873" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/22/26?start=-3&limit=10&highlight=26">
|
|
22q11.21
|
|
</a>
|
|
</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Peroxisome biogenesis disorder 7A (Zellweger)
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614872"> 614872 </a>
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<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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<tr>
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<td>
|
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<span class="mim-font">
|
|
Peroxisome biogenesis disorder 7B
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614873"> 614873 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
|
|
<span class="mim-font">
|
|
|
|
<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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<p><a href="#4" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Fujiki, Y. <strong>The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.</strong> Nature Cell Biol. 5: 454-460, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12717447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12717447</a>] [<a href="https://doi.org/10.1038/ncb982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12717447">Matsumoto et al. (2003)</a> cloned PEX26 from a kidney cDNA library based on its ability to complement a peroxisome biogenesis defect in a mutant Chinese hamster ovary (CHO) cell line. The deduced 305-amino acid protein has a calculated molecular mass of about 34 kD. PEX26 has a C-terminal hydrophobic segment. Epitope-tagged PEX26 was expressed in a punctate pattern that overlapped catalase (<a href="/entry/115500">115500</a>) staining in transfected CHO cells. Detergent extractions and protease digestion experiments indicated that the N terminus of PEX26 is exposed to the cytosol and the C terminus is exposed to the peroxisome matrix. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12717447" 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 Northern blot analysis, <a href="#5" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Furuki, S., Miyata, N., Moser, A., Shimozawa, N., Moser, H. W., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 73: 233-246, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12851857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12851857</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12851857[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/10.1086/377004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12851857">Matsumoto et al. (2003)</a> detected a 4.4-kb PEX26 mRNA transcript in all human tissues examined, with highest expression in the kidney. A smaller 1.8-kb transcript was also detected in several tissues, including kidney and liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12851857" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Fujiki, Y. <strong>The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.</strong> Nature Cell Biol. 5: 454-460, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12717447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12717447</a>] [<a href="https://doi.org/10.1038/ncb982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12717447">Matsumoto et al. (2003)</a> found that stable transfection of PEX26 in mutant CHO cells defective in peroxisome biogenesis restored peroxisome biogenesis and catalase activity. By in vitro protein binding assays and coimmunoprecipitation experiments, <a href="#4" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Fujiki, Y. <strong>The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.</strong> Nature Cell Biol. 5: 454-460, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12717447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12717447</a>] [<a href="https://doi.org/10.1038/ncb982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12717447">Matsumoto et al. (2003)</a> determined that PEX26 interacts directly with PEX6 (<a href="/entry/601498">601498</a>) and indirectly with PEX1 (<a href="/entry/602136">602136</a>) through PEX6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12717447" 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>The International Radiation Hybrid Mapping Consortium mapped the PEX26 gene to chromosome 22q11.21 (<a href="https://www.ncbi.nlm.nih.gov/mapview/map_search.cgi?taxid=9606&query=SHGC-32781" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'TMAP\', \'domain\': \'ncbi.nlm.nih.gov\'})">SHGC-32781</a>).</p>
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<p><a href="#4" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Fujiki, Y. <strong>The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.</strong> Nature Cell Biol. 5: 454-460, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12717447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12717447</a>] [<a href="https://doi.org/10.1038/ncb982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12717447">Matsumoto et al. (2003)</a> identified an arg98-to-trp mutation (R98W; <a href="#0001">608666.0001</a>) in the PEX26 gene in fibroblasts from a patient with peroxisome biogenesis disorder of complementation group 8 (CG8), resulting in neonatal adrenoleukodystrophy (NALD; see <a href="/entry/614873">614873</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12717447" 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="#5" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Furuki, S., Miyata, N., Moser, A., Shimozawa, N., Moser, H. W., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 73: 233-246, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12851857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12851857</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12851857[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/10.1086/377004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12851857">Matsumoto et al. (2003)</a> identified mutations in the PEX26 gene in patients with Zellweger syndrome (ZS; see <a href="/entry/614872">614872</a>), NALD, and infantile Refsum disease (see <a href="/entry/614873">614873</a>) (see <a href="#0001">608666.0001</a>-<a href="#0007">608666.0007</a>). Temperature-sensitive (30 degrees C) functional expression studies of the mutant proteins showed that catalase import was restored in cell lines from the patients with NALD and IRD, but to a much lesser extent in those with Zellweger syndrome, indicating that temperature sensitivity varied inversely with the severity of the clinical phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12851857" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Fujiki, Y. <strong>The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.</strong> Nature Cell Biol. 5: 454-460, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12717447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12717447</a>] [<a href="https://doi.org/10.1038/ncb982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12717447">Matsumoto et al. (2003)</a> proposed that PEX26 functions as the peroxisomal docking factor for the PEX1/PEX6 heterodimer. <a href="#7" class="mim-tip-reference" title="Weller, S., Cajigas, I., Morrell, J., Obie, C., Steel, G., Gould, S. J., Valle, D. <strong>Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.</strong> Am. J. Hum. Genet. 76: 987-1007, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15858711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15858711</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15858711[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/10.1086/430637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15858711">Weller et al. (2005)</a> identified previously undescribed PEX26 disease alleles (<a href="#0008">608666.0008</a>, <a href="#0009">608666.0009</a>), localized the PEX6-binding domain to the N-terminal half of the PEX26 protein (amino acids 29-174), and showed that at the cellular level, PEX26 deficiency impairs peroxisomal import of both PTS1- and PTS2-targeted matrix proteins. <a href="#7" class="mim-tip-reference" title="Weller, S., Cajigas, I., Morrell, J., Obie, C., Steel, G., Gould, S. J., Valle, D. <strong>Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.</strong> Am. J. Hum. Genet. 76: 987-1007, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15858711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15858711</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15858711[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/10.1086/430637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15858711">Weller et al. (2005)</a> also found that PEX26 undergoes alternative splicing to produce several splice forms, including 1 with deletion of exon 5 that maintains frame and encodes an isoform lacking the transmembrane domain of full-length PEX26. Despite its cytosolic location, PEX26 with deleted exon 5 rescues peroxisome biogenesis in PEX26-deficient cells as efficiently as does full-length PEX26. To test their observation that a peroxisomal location is not required for PEX26 function, <a href="#7" class="mim-tip-reference" title="Weller, S., Cajigas, I., Morrell, J., Obie, C., Steel, G., Gould, S. J., Valle, D. <strong>Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.</strong> Am. J. Hum. Genet. 76: 987-1007, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15858711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15858711</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15858711[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/10.1086/430637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15858711">Weller et al. (2005)</a> made a chimeric protein with PEX26 as its N terminus and the targeting segment of a mitochondrial outer membrane protein (OMP25) at its C terminus. This chimeric protein localized to the mitochondria and directed all detectable PEX6 and a fraction of PEX1 to this extraperoxisomal location; however, the chimeric protein retained the full ability to rescue peroxisome biogenesis in PEX26-deficient cells. On the basis of these observations, <a href="#7" class="mim-tip-reference" title="Weller, S., Cajigas, I., Morrell, J., Obie, C., Steel, G., Gould, S. J., Valle, D. <strong>Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.</strong> Am. J. Hum. Genet. 76: 987-1007, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15858711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15858711</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15858711[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/10.1086/430637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15858711">Weller et al. (2005)</a> suggested that a peroxisomal localization of PEX26 and PEX6 is not required for their function and that the interaction of PEX6 with PEX1 is dynamic. This model predicted that, once activated in an extraperoxisomal location, PEX1 moves to the peroxisome and completes the function of the PEX1/6 heterodimer. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15858711+12717447" 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 study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), <a href="#3" class="mim-tip-reference" title="Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. <strong>High-throughput discovery of novel developmental phenotypes.</strong> Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>] [<a href="https://doi.org/10.1038/nature19356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27626380">Dickinson et al. (2016)</a> found that knockout of the mouse homolog of human PEX26 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608666[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In a patient (cell line GM11335) with neonatal adrenoleukodystrophy (NALD; see PBD7B, <a href="/entry/614873">614873</a>), <a href="#4" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Fujiki, Y. <strong>The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.</strong> Nature Cell Biol. 5: 454-460, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12717447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12717447</a>] [<a href="https://doi.org/10.1038/ncb982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12717447">Matsumoto et al. (2003)</a> identified a homozygous C-to-T transition at nucleotide 292 of the PEX26 gene, resulting in an arg98-to-trp (R98W) substitution. The mutation rendered PEX26 unstable and less able to participate in PEX6 (<a href="/entry/601498">601498</a>)-mediated interaction with PEX1 (<a href="/entry/602136">602136</a>). Transfection of wildtype PEX26 restored peroxisome biogenesis in fibroblasts from this patient. <a href="#5" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Furuki, S., Miyata, N., Moser, A., Shimozawa, N., Moser, H. W., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 73: 233-246, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12851857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12851857</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12851857[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/10.1086/377004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12851857">Matsumoto et al. (2003)</a> identified this mutation in homozygosity in a second patient with NALD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12851857+12717447" 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="#5" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Furuki, S., Miyata, N., Moser, A., Shimozawa, N., Moser, H. W., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 73: 233-246, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12851857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12851857</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12851857[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/10.1086/377004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12851857">Matsumoto et al. (2003)</a> performed functional expression studies of the R98W mutation, which showed temperature-sensitive (30 degree C) import of catalase and thiolase. They noted that the findings correlated with the milder phenotype in the patient described by <a href="#4" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Fujiki, Y. <strong>The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.</strong> Nature Cell Biol. 5: 454-460, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12717447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12717447</a>] [<a href="https://doi.org/10.1038/ncb982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12717447">Matsumoto et al. (2003)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12851857+12717447" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient (cell line GM16865) with infantile Refsum disease (see <a href="/entry/614873">614873</a>), <a href="#5" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Furuki, S., Miyata, N., Moser, A., Shimozawa, N., Moser, H. W., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 73: 233-246, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12851857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12851857</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12851857[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/10.1086/377004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12851857">Matsumoto et al. (2003)</a> identified compound heterozygosity for 2 mutations in the PEX26 gene: R98W and a 1-bp insertion, 255insT (<a href="#0007">608666.0007</a>), resulting in a frameshift introducing a distinct 28-amino acid sequence. Functional coexpression studies of the 2 mutations showed temperature-sensitive (30 degrees C) import of catalase and thiolase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12851857" 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="Weller, S., Cajigas, I., Morrell, J., Obie, C., Steel, G., Gould, S. J., Valle, D. <strong>Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.</strong> Am. J. Hum. Genet. 76: 987-1007, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15858711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15858711</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15858711[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/10.1086/430637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15858711">Weller et al. (2005)</a> pointed out that in the 18 genotyped probands with peroxisome biogenesis disorder of complementation group 8 reported to that time, the R98W mutation accounted for 14 (39%) of the mutant PEX26 genes (10 patients in their study, 4 of whom overlapped with the 7 reported by <a href="#4" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Fujiki, Y. <strong>The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.</strong> Nature Cell Biol. 5: 454-460, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12717447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12717447</a>] [<a href="https://doi.org/10.1038/ncb982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12717447">Matsumoto et al. (2003)</a>, and 5 in the report of <a href="#6" class="mim-tip-reference" title="Steinberg, S., Chen, L., Wei, L., Moser, A., Moser, H., Cutting, G., Braverman, N. <strong>The PEX gene screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.</strong> Molec. Genet. Metab. 83: 252-263, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15542397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15542397</a>] [<a href="https://doi.org/10.1016/j.ymgme.2004.08.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15542397">Steinberg et al. (2004)</a>). The high frequency of R98W may represent a founder effect, as has been described for certain alleles in other peroxisome biogenesis disorder complementation groups (<a href="#2" class="mim-tip-reference" title="Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D. <strong>Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.</strong> Nature Genet. 15: 369-376, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090381</a>] [<a href="https://doi.org/10.1038/ng0497-369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090381">Braverman et al., 1997</a>), or recurrent mutations at a CpG dinucleotide in codon 98 (CGG to TGG). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15858711+15542397+12717447+9090381" 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 2 unrelated patients (cell lines A-02 and A-06) with Zellweger syndrome (PBD7A; <a href="/entry/614872">614872</a>), <a href="#5" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Furuki, S., Miyata, N., Moser, A., Shimozawa, N., Moser, H. W., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 73: 233-246, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12851857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12851857</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12851857[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/10.1086/377004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12851857">Matsumoto et al. (2003)</a> identified a homozygous 265G-A transition in the PEX26 gene, resulting in a gly89-to-arg (G89R) substitution. In vitro functional analysis showed that the G89R mutation inactivated the function of PEX26, resulting in weak temperature-sensitive (30 degrees C) import of catalase and thiolase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12851857" 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 (cell line GM07371) with Zellweger syndrome (PBD7A; <a href="/entry/614872">614872</a>), <a href="#5" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Furuki, S., Miyata, N., Moser, A., Shimozawa, N., Moser, H. W., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 73: 233-246, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12851857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12851857</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12851857[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/10.1086/377004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12851857">Matsumoto et al. (2003)</a> identified compound heterozygosity for mutations in the PEX26 gene: one allele carried a homozygous 1-bp insertion, T35insC, that resulted in a frameshift introducing a 102-amino acid sequence distinct from normal PEX26, and the other allele carried the T35insC mutation as well as a 147-bp deletion of nucleotides 668-814 resulting in deletion of amino acids 223-271 (del223-271). Functional expression studies of the 35insC mutation showed almost normal catalase and thiolase import. Coexpression studies of the complex allele showed weak temperature-sensitive (30 degree C) import of catalase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12851857" 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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PEX26, 1-BP INS, 35C AND 147-BP DEL, NT668
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2123657325 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2123657325;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=rs2123657325" 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=rs2123657325" 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=RCV000002237 OR RCV000002238 OR RCV000662021 OR RCV000727235 OR RCV000780590 OR RCV000821185" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002237, RCV000002238, RCV000662021, RCV000727235, RCV000780590, RCV000821185" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002237...</a>
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<p>For discussion of an allele containing a 1-bp insertion in the PEX26 gene (T35insC) in cis with a 147-bp deletion in the PEX26 gene that was found in compound heterozygous state in a patient (cell line GM07371) with Zellweger syndrome (PBD7A; <a href="/entry/614872">614872</a>) by <a href="#5" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Furuki, S., Miyata, N., Moser, A., Shimozawa, N., Moser, H. W., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 73: 233-246, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12851857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12851857</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12851857[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/10.1086/377004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12851857">Matsumoto et al. (2003)</a>, see <a href="#0003">608666.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12851857" 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>.0005 PEROXISOME BIOGENESIS DISORDER 7B</strong>
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PEX26, MET1THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs74315506 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315506;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs74315506?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs74315506" 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=rs74315506" 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=RCV000002239 OR RCV000779366 OR RCV002269256 OR RCV005024990" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002239, RCV000779366, RCV002269256, RCV005024990" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002239...</a>
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<p>In a patient (cell line GM08771) with infantile Refsum disease (see PBD7B, <a href="/entry/614873">614873</a>), <a href="#5" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Furuki, S., Miyata, N., Moser, A., Shimozawa, N., Moser, H. W., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 73: 233-246, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12851857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12851857</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12851857[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/10.1086/377004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12851857">Matsumoto et al. (2003)</a> identified compound heterozygosity for 2 mutations in the PEX26 gene: a 2T-C transition, resulting in a met1-to-thr (M1T) substitution in the initiator met residue, and a 134T-C transition, resulting in a leu45-to-pro (L45P; <a href="#0006">608666.0006</a>) substitution. Functional expression studies showed that the M1T mutation allowed some catalase and thiolase import, whereas the L45P mutation had virtually no temperature-sensitive (30 degrees C) import. Coexpression of the 2 mutations resulted in temperature-sensitive import, corresponding to the milder phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12851857" 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>.0006 PEROXISOME BIOGENESIS DISORDER 7B</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs61752132 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752132;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs61752132?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs61752132" 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=rs61752132" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002240 OR RCV000351940 OR RCV001298874 OR RCV004700179" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002240, RCV000351940, RCV001298874, RCV004700179" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002240...</a>
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<p>For discussion of leu45-to-pro (L45P) mutation in the PEX26 gene that was found in compound heterozygous state in a patient (cell line GM08771) with infantile Refsum disease (see PBD7B, <a href="/entry/614873">614873</a>) by <a href="#5" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Furuki, S., Miyata, N., Moser, A., Shimozawa, N., Moser, H. W., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 73: 233-246, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12851857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12851857</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12851857[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/10.1086/377004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12851857">Matsumoto et al. (2003)</a>, see <a href="#0005">608666.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12851857" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0007 PEROXISOME BIOGENESIS DISORDER 7B</strong>
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PEX26, 1-BP INS, 255T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs61752133 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752133;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=rs61752133" 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=rs61752133" 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=RCV000002241 OR RCV000002243 OR RCV002512674" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002241, RCV000002243, RCV002512674" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002241...</a>
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<p>For discussion of a 1-bp insertion in the PEX26 gene that was found in compound heterozygous state in a patient (cell line GM16865) with infantile Refsum disease (see PBD7B, <a href="/entry/614873">614873</a>) by <a href="#5" class="mim-tip-reference" title="Matsumoto, N., Tamura, S., Furuki, S., Miyata, N., Moser, A., Shimozawa, N., Moser, H. W., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 73: 233-246, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12851857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12851857</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12851857[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/10.1086/377004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12851857">Matsumoto et al. (2003)</a>, see <a href="#0001">608666.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12851857" 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>.0008 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267608190 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267608190;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=rs267608190" 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=rs267608190" 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=RCV000002242 OR RCV001851574 OR RCV002509142" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002242, RCV001851574, RCV002509142" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002242...</a>
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<p>In a proband with a Zellweger syndrome phenotype (PBD7A; <a href="/entry/614872">614872</a>), <a href="#7" class="mim-tip-reference" title="Weller, S., Cajigas, I., Morrell, J., Obie, C., Steel, G., Gould, S. J., Valle, D. <strong>Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.</strong> Am. J. Hum. Genet. 76: 987-1007, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15858711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15858711</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15858711[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/10.1086/430637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15858711">Weller et al. (2005)</a> identified a G-to-T transversion at position 1 of the splice donor site of intron 2 of the PEX26 gene, 230+1G-T, resulting in a frameshift at codon 77 and premature termination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15858711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<h4>
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<strong>.0009 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)</strong>
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PEX26, 1-BP INS, 254T
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002241 OR RCV000002243 OR RCV002512674" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002241, RCV000002243, RCV002512674" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002241...</a>
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<p>In a patient with a Zellweger syndrome phenotype (PBD7A; <a href="/entry/614872">614872</a>), <a href="#7" class="mim-tip-reference" title="Weller, S., Cajigas, I., Morrell, J., Obie, C., Steel, G., Gould, S. J., Valle, D. <strong>Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.</strong> Am. J. Hum. Genet. 76: 987-1007, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15858711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15858711</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15858711[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/10.1086/430637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15858711">Weller et al. (2005)</a> identified compound heterozygosity for mutations in the PEX26 gene: arg98 to trp (R98W; <a href="#0001">608666.0001</a>) and a 1-bp insertion, 254insT, which resulted in a frameshift and premature termination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15858711" 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>.0010 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)</strong>
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PEX26, TRP99TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs62641229 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs62641229;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs62641229?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs62641229" 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=rs62641229" 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=RCV000416954" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000416954" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000416954</a>
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<p>In an infant boy with Zellweger syndrome (PBD7A; <a href="/entry/614872">614872</a>), the child of healthy first-cousin Saudi parents, <a href="#1" class="mim-tip-reference" title="Al-Sayed, M., Al-Hassan, S., Rashed, M., Qeba, M., Coskun, S. <strong>Preimplantation genetic diagnosis for Zellweger syndrome.</strong> Fertil. Steril. 87: 1468: e1-e3, 2007. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17336976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17336976</a>] [<a href="https://doi.org/10.1016/j.fertnstert.2006.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17336976">Al-Sayed et al. (2007)</a> detected homozygosity for a c.296G-A transition in the PEX26 cDNA that resulted in a trp99-to-ter amino acid substitution (W99X). The patient had typical features of Zellweger syndrome and was one of 4 affected sibs, all of whom died around the age of 4 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17336976" 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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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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Al-Sayed, M., Al-Hassan, S., Rashed, M., Qeba, M., Coskun, S.
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<strong>Preimplantation genetic diagnosis for Zellweger syndrome.</strong>
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Fertil. Steril. 87: 1468: e1-e3, 2007. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17336976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17336976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17336976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.fertnstert.2006.09.014" target="_blank">Full Text</a>]
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<a id="Braverman1997" class="mim-anchor"></a>
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Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D.
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<strong>Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.</strong>
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Nature Genet. 15: 369-376, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090381</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9090381" 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/ng0497-369" target="_blank">Full Text</a>]
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
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Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" 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/nature19356" target="_blank">Full Text</a>]
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Matsumoto, N., Tamura, S., Fujiki, Y.
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<strong>The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.</strong>
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Nature Cell Biol. 5: 454-460, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12717447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12717447</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12717447" 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/ncb982" target="_blank">Full Text</a>]
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Matsumoto, N., Tamura, S., Furuki, S., Miyata, N., Moser, A., Shimozawa, N., Moser, H. W., Suzuki, Y., Kondo, N., Fujiki, Y.
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<strong>Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.</strong>
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Am. J. Hum. Genet. 73: 233-246, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12851857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12851857</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12851857[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=12851857" 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/10.1086/377004" target="_blank">Full Text</a>]
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Steinberg, S., Chen, L., Wei, L., Moser, A., Moser, H., Cutting, G., Braverman, N.
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<strong>The PEX gene screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.</strong>
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Molec. Genet. Metab. 83: 252-263, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15542397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15542397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15542397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Weller, S., Cajigas, I., Morrell, J., Obie, C., Steel, G., Gould, S. J., Valle, D.
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<strong>Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.</strong>
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Am. J. Hum. Genet. 76: 987-1007, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15858711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15858711</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15858711[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=15858711" 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/10.1086/430637" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 02/17/2017
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Anne M. Stumpf - updated : 02/07/2017<br>Victor A. McKusick - updated : 5/27/2005<br>Cassandra L. Kniffin - updated : 6/16/2004
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Patricia A. Hartz : 5/18/2004
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carol : 02/05/2018<br>alopez : 02/17/2017<br>alopez : 02/07/2017<br>alopez : 02/06/2017<br>alopez : 10/25/2012<br>alopez : 10/24/2012<br>tkritzer : 6/2/2005<br>terry : 5/27/2005<br>tkritzer : 6/30/2004<br>ckniffin : 6/16/2004<br>mgross : 5/18/2004
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PEROXISOME BIOGENESIS FACTOR 26; PEX26
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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 26
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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: PEX26</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: 22q11.21
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Genomic coordinates <span class="small">(GRCh38)</span> : 22:18,077,990-18,105,396 </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="2">
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<span class="mim-font">
|
|
22q11.21
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Peroxisome biogenesis disorder 7A (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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614872
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</span>
|
|
</td>
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<td>
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<span class="mim-font">
|
|
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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<tr>
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<td>
|
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<span class="mim-font">
|
|
Peroxisome biogenesis disorder 7B
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
614873
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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">
|
|
<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">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p>Matsumoto et al. (2003) cloned PEX26 from a kidney cDNA library based on its ability to complement a peroxisome biogenesis defect in a mutant Chinese hamster ovary (CHO) cell line. The deduced 305-amino acid protein has a calculated molecular mass of about 34 kD. PEX26 has a C-terminal hydrophobic segment. Epitope-tagged PEX26 was expressed in a punctate pattern that overlapped catalase (115500) staining in transfected CHO cells. Detergent extractions and protease digestion experiments indicated that the N terminus of PEX26 is exposed to the cytosol and the C terminus is exposed to the peroxisome matrix. </p><p>By Northern blot analysis, Matsumoto et al. (2003) detected a 4.4-kb PEX26 mRNA transcript in all human tissues examined, with highest expression in the kidney. A smaller 1.8-kb transcript was also detected in several tissues, including kidney and liver. </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">
|
|
<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">
|
|
<p>Matsumoto et al. (2003) found that stable transfection of PEX26 in mutant CHO cells defective in peroxisome biogenesis restored peroxisome biogenesis and catalase activity. By in vitro protein binding assays and coimmunoprecipitation experiments, Matsumoto et al. (2003) determined that PEX26 interacts directly with PEX6 (601498) and indirectly with PEX1 (602136) through PEX6. </p>
|
|
</span>
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<div>
|
|
<br />
|
|
</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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|
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<span class="mim-text-font">
|
|
<p>The International Radiation Hybrid Mapping Consortium mapped the PEX26 gene to chromosome 22q11.21 (SHGC-32781).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<span class="mim-text-font">
|
|
<p>Matsumoto et al. (2003) identified an arg98-to-trp mutation (R98W; 608666.0001) in the PEX26 gene in fibroblasts from a patient with peroxisome biogenesis disorder of complementation group 8 (CG8), resulting in neonatal adrenoleukodystrophy (NALD; see 614873). </p><p>Matsumoto et al. (2003) identified mutations in the PEX26 gene in patients with Zellweger syndrome (ZS; see 614872), NALD, and infantile Refsum disease (see 614873) (see 608666.0001-608666.0007). Temperature-sensitive (30 degrees C) functional expression studies of the mutant proteins showed that catalase import was restored in cell lines from the patients with NALD and IRD, but to a much lesser extent in those with Zellweger syndrome, indicating that temperature sensitivity varied inversely with the severity of the clinical phenotype. </p><p>Matsumoto et al. (2003) proposed that PEX26 functions as the peroxisomal docking factor for the PEX1/PEX6 heterodimer. Weller et al. (2005) identified previously undescribed PEX26 disease alleles (608666.0008, 608666.0009), localized the PEX6-binding domain to the N-terminal half of the PEX26 protein (amino acids 29-174), and showed that at the cellular level, PEX26 deficiency impairs peroxisomal import of both PTS1- and PTS2-targeted matrix proteins. Weller et al. (2005) also found that PEX26 undergoes alternative splicing to produce several splice forms, including 1 with deletion of exon 5 that maintains frame and encodes an isoform lacking the transmembrane domain of full-length PEX26. Despite its cytosolic location, PEX26 with deleted exon 5 rescues peroxisome biogenesis in PEX26-deficient cells as efficiently as does full-length PEX26. To test their observation that a peroxisomal location is not required for PEX26 function, Weller et al. (2005) made a chimeric protein with PEX26 as its N terminus and the targeting segment of a mitochondrial outer membrane protein (OMP25) at its C terminus. This chimeric protein localized to the mitochondria and directed all detectable PEX6 and a fraction of PEX1 to this extraperoxisomal location; however, the chimeric protein retained the full ability to rescue peroxisome biogenesis in PEX26-deficient cells. On the basis of these observations, Weller et al. (2005) suggested that a peroxisomal localization of PEX26 and PEX6 is not required for their function and that the interaction of PEX6 with PEX1 is dynamic. This model predicted that, once activated in an extraperoxisomal location, PEX1 moves to the peroxisome and completes the function of the PEX1/6 heterodimer. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human PEX26 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>10 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 PEROXISOME BIOGENESIS DISORDER 7B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX26, ARG98TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs62641228,
|
|
|
|
|
|
gnomAD: rs62641228,
|
|
|
|
|
|
ClinVar: RCV000002234, RCV000402285, RCV000780589, RCV000812717, RCV003390634, RCV003472958
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (cell line GM11335) with neonatal adrenoleukodystrophy (NALD; see PBD7B, 614873), Matsumoto et al. (2003) identified a homozygous C-to-T transition at nucleotide 292 of the PEX26 gene, resulting in an arg98-to-trp (R98W) substitution. The mutation rendered PEX26 unstable and less able to participate in PEX6 (601498)-mediated interaction with PEX1 (602136). Transfection of wildtype PEX26 restored peroxisome biogenesis in fibroblasts from this patient. Matsumoto et al. (2003) identified this mutation in homozygosity in a second patient with NALD. </p><p>Matsumoto et al. (2003) performed functional expression studies of the R98W mutation, which showed temperature-sensitive (30 degree C) import of catalase and thiolase. They noted that the findings correlated with the milder phenotype in the patient described by Matsumoto et al. (2003). </p><p>In a patient (cell line GM16865) with infantile Refsum disease (see 614873), Matsumoto et al. (2003) identified compound heterozygosity for 2 mutations in the PEX26 gene: R98W and a 1-bp insertion, 255insT (608666.0007), resulting in a frameshift introducing a distinct 28-amino acid sequence. Functional coexpression studies of the 2 mutations showed temperature-sensitive (30 degrees C) import of catalase and thiolase. </p><p>Weller et al. (2005) pointed out that in the 18 genotyped probands with peroxisome biogenesis disorder of complementation group 8 reported to that time, the R98W mutation accounted for 14 (39%) of the mutant PEX26 genes (10 patients in their study, 4 of whom overlapped with the 7 reported by Matsumoto et al. (2003), and 5 in the report of Steinberg et al. (2004)). The high frequency of R98W may represent a founder effect, as has been described for certain alleles in other peroxisome biogenesis disorder complementation groups (Braverman et al., 1997), or recurrent mutations at a CpG dinucleotide in codon 98 (CGG to TGG). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX26, GLY89ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28940308,
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|
|
|
|
|
|
|
ClinVar: RCV000002236
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated patients (cell lines A-02 and A-06) with Zellweger syndrome (PBD7A; 614872), Matsumoto et al. (2003) identified a homozygous 265G-A transition in the PEX26 gene, resulting in a gly89-to-arg (G89R) substitution. In vitro functional analysis showed that the G89R mutation inactivated the function of PEX26, resulting in weak temperature-sensitive (30 degrees C) import of catalase and thiolase. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX26, 1-BP INS, 35C
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|
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|
|
<br />
|
|
|
|
SNP: rs61752129,
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|
|
|
|
|
|
|
ClinVar: RCV000002237, RCV000002238, RCV000662021, RCV000727235, RCV000780590, RCV000821185
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (cell line GM07371) with Zellweger syndrome (PBD7A; 614872), Matsumoto et al. (2003) identified compound heterozygosity for mutations in the PEX26 gene: one allele carried a homozygous 1-bp insertion, T35insC, that resulted in a frameshift introducing a 102-amino acid sequence distinct from normal PEX26, and the other allele carried the T35insC mutation as well as a 147-bp deletion of nucleotides 668-814 resulting in deletion of amino acids 223-271 (del223-271). Functional expression studies of the 35insC mutation showed almost normal catalase and thiolase import. Coexpression studies of the complex allele showed weak temperature-sensitive (30 degree C) import of catalase. </p>
|
|
</span>
|
|
</div>
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX26, 1-BP INS, 35C AND 147-BP DEL, NT668
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2123657325,
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|
|
|
|
|
|
|
ClinVar: RCV000002237, RCV000002238, RCV000662021, RCV000727235, RCV000780590, RCV000821185
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of an allele containing a 1-bp insertion in the PEX26 gene (T35insC) in cis with a 147-bp deletion in the PEX26 gene that was found in compound heterozygous state in a patient (cell line GM07371) with Zellweger syndrome (PBD7A; 614872) by Matsumoto et al. (2003), see 608666.0003. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 PEROXISOME BIOGENESIS DISORDER 7B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX26, MET1THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs74315506,
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|
|
|
|
gnomAD: rs74315506,
|
|
|
|
|
|
ClinVar: RCV000002239, RCV000779366, RCV002269256, RCV005024990
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (cell line GM08771) with infantile Refsum disease (see PBD7B, 614873), Matsumoto et al. (2003) identified compound heterozygosity for 2 mutations in the PEX26 gene: a 2T-C transition, resulting in a met1-to-thr (M1T) substitution in the initiator met residue, and a 134T-C transition, resulting in a leu45-to-pro (L45P; 608666.0006) substitution. Functional expression studies showed that the M1T mutation allowed some catalase and thiolase import, whereas the L45P mutation had virtually no temperature-sensitive (30 degrees C) import. Coexpression of the 2 mutations resulted in temperature-sensitive import, corresponding to the milder phenotype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 PEROXISOME BIOGENESIS DISORDER 7B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX26, LEU45PRO
|
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|
|
|
|
<br />
|
|
|
|
SNP: rs61752132,
|
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|
|
|
gnomAD: rs61752132,
|
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|
|
|
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ClinVar: RCV000002240, RCV000351940, RCV001298874, RCV004700179
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
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<p>For discussion of leu45-to-pro (L45P) mutation in the PEX26 gene that was found in compound heterozygous state in a patient (cell line GM08771) with infantile Refsum disease (see PBD7B, 614873) by Matsumoto et al. (2003), see 608666.0005. </p>
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<span class="mim-font">
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<strong>.0007 PEROXISOME BIOGENESIS DISORDER 7B</strong>
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<span class="mim-text-font">
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PEX26, 1-BP INS, 255T
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<br />
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SNP: rs61752133,
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ClinVar: RCV000002241, RCV000002243, RCV002512674
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</span>
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<span class="mim-text-font">
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<p>For discussion of a 1-bp insertion in the PEX26 gene that was found in compound heterozygous state in a patient (cell line GM16865) with infantile Refsum disease (see PBD7B, 614873) by Matsumoto et al. (2003), see 608666.0001. </p>
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</span>
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<span class="mim-font">
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<strong>.0008 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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PEX26, IVS2DS, G-T, +1
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<br />
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SNP: rs267608190,
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ClinVar: RCV000002242, RCV001851574, RCV002509142
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</span>
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<span class="mim-text-font">
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<p>In a proband with a Zellweger syndrome phenotype (PBD7A; 614872), Weller et al. (2005) identified a G-to-T transversion at position 1 of the splice donor site of intron 2 of the PEX26 gene, 230+1G-T, resulting in a frameshift at codon 77 and premature termination. </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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<h4>
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<span class="mim-font">
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<strong>.0009 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PEX26, 1-BP INS, 254T
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<br />
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ClinVar: RCV000002241, RCV000002243, RCV002512674
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with a Zellweger syndrome phenotype (PBD7A; 614872), Weller et al. (2005) identified compound heterozygosity for mutations in the PEX26 gene: arg98 to trp (R98W; 608666.0001) and a 1-bp insertion, 254insT, which resulted in a frameshift and premature termination. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0010 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PEX26, TRP99TER
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<br />
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SNP: rs62641229,
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gnomAD: rs62641229,
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ClinVar: RCV000416954
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an infant boy with Zellweger syndrome (PBD7A; 614872), the child of healthy first-cousin Saudi parents, Al-Sayed et al. (2007) detected homozygosity for a c.296G-A transition in the PEX26 cDNA that resulted in a trp99-to-ter amino acid substitution (W99X). The patient had typical features of Zellweger syndrome and was one of 4 affected sibs, all of whom died around the age of 4 months. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Al-Sayed, M., Al-Hassan, S., Rashed, M., Qeba, M., Coskun, S.
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<strong>Preimplantation genetic diagnosis for Zellweger syndrome.</strong>
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Fertil. Steril. 87: 1468: e1-e3, 2007. Note: Electronic Article.
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[PubMed: 17336976]
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[Full Text: https://doi.org/10.1016/j.fertnstert.2006.09.014]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D.
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<strong>Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.</strong>
|
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Nature Genet. 15: 369-376, 1997.
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[PubMed: 9090381]
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[Full Text: https://doi.org/10.1038/ng0497-369]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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|
<strong>High-throughput discovery of novel developmental phenotypes.</strong>
|
|
Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: 27626380]
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[Full Text: https://doi.org/10.1038/nature19356]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Matsumoto, N., Tamura, S., Fujiki, Y.
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<strong>The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.</strong>
|
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Nature Cell Biol. 5: 454-460, 2003.
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[PubMed: 12717447]
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[Full Text: https://doi.org/10.1038/ncb982]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Matsumoto, N., Tamura, S., Furuki, S., Miyata, N., Moser, A., Shimozawa, N., Moser, H. W., Suzuki, Y., Kondo, N., Fujiki, Y.
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<strong>Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.</strong>
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Am. J. Hum. Genet. 73: 233-246, 2003.
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[PubMed: 12851857]
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[Full Text: https://doi.org/10.1086/377004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Steinberg, S., Chen, L., Wei, L., Moser, A., Moser, H., Cutting, G., Braverman, N.
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<strong>The PEX gene screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.</strong>
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Molec. Genet. Metab. 83: 252-263, 2004.
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[PubMed: 15542397]
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[Full Text: https://doi.org/10.1016/j.ymgme.2004.08.008]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Weller, S., Cajigas, I., Morrell, J., Obie, C., Steel, G., Gould, S. J., Valle, D.
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<strong>Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.</strong>
|
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Am. J. Hum. Genet. 76: 987-1007, 2005.
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[PubMed: 15858711]
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[Full Text: https://doi.org/10.1086/430637]
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</p>
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</li>
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</ol>
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<br />
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Ada Hamosh - updated : 02/17/2017<br>Anne M. Stumpf - updated : 02/07/2017<br>Victor A. McKusick - updated : 5/27/2005<br>Cassandra L. Kniffin - updated : 6/16/2004
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