3845 lines
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Entry
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- *170993 - PEROXISOME BIOGENESIS FACTOR 2; PEX2
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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">*170993</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<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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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/170993">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=ENSG00000164751;t=ENST00000357039" 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=5828" 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=170993" 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=ENSG00000164751;t=ENST00000357039" 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_000318,NM_001079867,NM_001172086,NM_001172087" 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_000318" 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=170993" 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=01367&isoform_id=01367_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/PEX2" 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/189849,190190,9719228,12653751,13529227,62203081,119607458,189066583,281185478,1519244213,1890264282,1890266997,1890267068" 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/P28328" 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=5828" 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=ENSG00000164751;t=ENST00000357039" 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=PEX2" 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=PEX2" 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+5828" 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/PEX2" 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:5828" 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/5828" 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=chr8&hgg_gene=ENST00000357039.9&hgg_start=76980258&hgg_end=77001044&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/genes/HGNC:9717" 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=170993[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=170993[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/ENSG00000164751" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=PEX2" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=PEX2" 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=PEX2" 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=PEX2&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/PA34060" 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:9717" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0035876.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:107486" 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/PEX2#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:107486" 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/5828/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=5828" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00004192;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070530-2" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5828" 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=PEX2&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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170993
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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 2; PEX2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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PEROXISOMAL MEMBRANE PROTEIN 3; PXMP3<br />
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PEROXISOMAL MEMBRANE PROTEIN, 35-KD; PMP35<br />
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PEROXISOMAL ASSEMBLY FACTOR 1; PAF1<br />
|
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PEROXIN 2
|
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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=PEX2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PEX2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/8/356?start=-3&limit=10&highlight=356">8q21.13</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr8:76980258-77001044&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'})">8:76,980,258-77,001,044</a> </span>
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614866,614867" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
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</th>
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<th>
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|
Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
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</thead>
|
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<tbody>
|
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|
|
<tr>
|
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<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/8/356?start=-3&limit=10&highlight=356">
|
|
8q21.13
|
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</a>
|
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</span>
|
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</td>
|
|
|
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|
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<td>
|
|
<span class="mim-font">
|
|
Peroxisome biogenesis disorder 5A (Zellweger)
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/614866"> 614866 </a>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
Peroxisome biogenesis disorder 5B
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/614867"> 614867 </a>
|
|
|
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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="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
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<p>Using rat PAF1 cDNA to probe a human liver cDNA library, <a href="#18" class="mim-tip-reference" title="Shimozawa, N., Tsukamoto, T., Suzuki, Y., Orii, T., Shirayoshi, Y., Mori, T., Fujiki, Y. <strong>A human gene responsible for Zellweger syndrome that affects peroxisome assembly.</strong> Science 255: 1132-1134, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1546315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1546315</a>] [<a href="https://doi.org/10.1126/science.1546315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1546315">Shimozawa et al. (1992)</a> isolated a cDNA with a 915-bp open reading frame that shares 86% nucleotide identity and 88% deduced amino acid identity with the rat gene. Both sequences encode a protein with 2 highly conserved, putative membrane spanning sequences and 7 cysteine residues in the C-terminal region. Transfection of human PAF1 cDNA corrected the peroxisome assembly defect in the cells of a Japanese girl (M.M.) with Zellweger syndrome (see <a href="/entry/214100">214100</a>) but not in cells of other complementation types (<a href="#7" class="mim-tip-reference" title="Gartner, J., Moser, H., Valle, D. <strong>Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.</strong> Nature Genet. 1: 16-23, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301993</a>] [<a href="https://doi.org/10.1038/ng0492-16" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1301993">Gartner et al., 1992</a>). As predicted by these results, fusion of the patient's fibroblasts with peroxisome-deficient Chinese hamster ovary mutant Z65 cells failed to restore peroxisomes. Fusion of Z65 cells with fibroblasts of other peroxisome biogenesis disorder (PBD; <a href="/entry/601539">601539</a>) complementation groups did result in restoration of peroxisomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1301993+1546315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Berteaux-Lecellier, V., Picard, M., Thompson-Coffe, C., Zickler, D., Panvier-Adoutte, A., Simonet, J.-M. <strong>A nonmammalian homolog of the PAF1 gene (Zellweger syndrome) discovered as a gene involved in caryogamy in the fungus podospora anserina.</strong> Cell 81: 1043-1051, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7600573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7600573</a>] [<a href="https://doi.org/10.1016/s0092-8674(05)80009-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7600573">Berteaux-Lecellier et al. (1995)</a> identified a nonmammalian homolog of the PAF1 gene. The discovery was serendipitous, as one would not expect that caryogamy (nuclear fusion) in the filamentous fungus Podospora anserina requires peroxisomes. In filamentous ascomycetes, caryogamy occurs as part of the process leading to meiosis and sexual sporulation. The original car1 mutants were identified in a systematic search for sporulation-deficient mutants (<a href="#19" class="mim-tip-reference" title="Simonet, J. M., Zickler, D. <strong>Mutations affecting meiosis in Podospora anserina. I. Cytological studies.</strong> Chromosoma 37: 327-351, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4340133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4340133</a>] [<a href="https://doi.org/10.1007/BF00319874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4340133">Simonet and Zickler, 1972</a>; <a href="#20" class="mim-tip-reference" title="Simonet, J. M., Zickler, D. <strong>Genes involved in caryogamy and meiosis in Podospora anserina.</strong> Mol. Gen. Genet. 162: 237-242, 1978."None>Simonet and Zickler, 1978</a>). <a href="#1" class="mim-tip-reference" title="Berteaux-Lecellier, V., Picard, M., Thompson-Coffe, C., Zickler, D., Panvier-Adoutte, A., Simonet, J.-M. <strong>A nonmammalian homolog of the PAF1 gene (Zellweger syndrome) discovered as a gene involved in caryogamy in the fungus podospora anserina.</strong> Cell 81: 1043-1051, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7600573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7600573</a>] [<a href="https://doi.org/10.1016/s0092-8674(05)80009-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7600573">Berteaux-Lecellier et al. (1995)</a> cloned the car1 gene by complementation. The polypeptide deduced from its sequence showed similarity to the mammalian PAF1 genes: the fungal and the human polypeptides displayed 27% identity over 340 residues; car1 contains the same kind of zinc finger motif as PAF1; and finally, 1 of the 2 putative transmembrane domains of PAF1 is strikingly conserved in the car1 protein. A combination of molecular, physiologic, genetic, and ultrastructural approaches provided evidence that the P. anserina car1 protein is, in fact, a peroxisomal protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4340133+7600573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using phage and PAC genomic libraries, <a href="#2" class="mim-tip-reference" title="Biermanns, M., Gartner, J. <strong>Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein.</strong> Biochem. Biophys. Res. Commun. 273: 985-990, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10891359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10891359</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10891359">Biermanns and Gartner (2000)</a> obtained clones containing the full-length PEX2 gene. Northern blot analysis detected ubiquitous expression of a predominant 1.5-kb transcript as well as a 2.4-kb transcript, suggesting that there might be different isoforms; highest expression was detected in skeletal muscle, heart, and pancreas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10891359" 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="#2" class="mim-tip-reference" title="Biermanns, M., Gartner, J. <strong>Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein.</strong> Biochem. Biophys. Res. Commun. 273: 985-990, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10891359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10891359</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10891359">Biermanns and Gartner (2000)</a> determined that the PEX2 gene contains 4 exons and spans approximately 17.5 kb. The first 3 exons range from 32 to 110 bp in length, and the entire coding sequence is in the 1,275-bp exon 4. Promoter analysis revealed tissue-specific transcription start sites and features characteristic of a housekeeping gene, but no peroxisomal proliferator response elements were identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10891359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization, <a href="#16" class="mim-tip-reference" title="Shimozawa, N., Masuno, M., Suzuki, Y., Orii, T., Imaizumi, K., Kuroki, T., Tsukamoto, T., Osumi, T., Fujiki, Y. <strong>A human gene of Zellweger syndrome is mapped to chromosome 8q21.1. (Abstract)</strong> Am. J. Hum. Genet. 53 (suppl.): A947, 1993."None>Shimozawa et al. (1993)</a> mapped the PAF1 gene to chromosome 8q21.1; in the full publication, <a href="#10" class="mim-tip-reference" title="Masuno, M., Shimozawa, N., Suzuki, Y., Kondo, N., Orii, T., Tsukamoto, T., Osumi, T., Fujiki, Y., Imaizumi, K., Kuroki, Y. <strong>Assignment of the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization.</strong> Genomics 20: 141-142, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8020947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8020947</a>] [<a href="https://doi.org/10.1006/geno.1994.1144" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8020947">Masuno et al. (1994)</a> used the symbol PXMP3. <a href="#2" class="mim-tip-reference" title="Biermanns, M., Gartner, J. <strong>Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein.</strong> Biochem. Biophys. Res. Commun. 273: 985-990, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10891359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10891359</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10891359">Biermanns and Gartner (2000)</a> mapped the PEX2 gene to chromosome 8q13-q21 by FISH and localized the mouse Pex2 gene to the proximal region of chromosome 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8020947+10891359" 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="#18" class="mim-tip-reference" title="Shimozawa, N., Tsukamoto, T., Suzuki, Y., Orii, T., Shirayoshi, Y., Mori, T., Fujiki, Y. <strong>A human gene responsible for Zellweger syndrome that affects peroxisome assembly.</strong> Science 255: 1132-1134, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1546315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1546315</a>] [<a href="https://doi.org/10.1126/science.1546315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1546315">Shimozawa et al. (1992)</a> demonstrated a point mutation (<a href="#0001">170993.0001</a>) in peroxisome assembly factor-1 (PAF1), a 35-kD peroxisomal membrane protein (PMP35) for which the cDNA had been cloned by <a href="#22" class="mim-tip-reference" title="Tsukamoto, T., Miura, S., Fujiki, Y. <strong>Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant.</strong> Nature 350: 77-81, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1750930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1750930</a>] [<a href="https://doi.org/10.1038/350077a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1750930">Tsukamoto et al. (1991)</a>. They had previously shown that this protein corrected the Zellweger-like defect in peroxisome assembly in a peroxisome-deficient Chinese hamster ovary mutant cell line (Z65). From among the 10 or more complementation groups among the peroxisome biogenesis disorders (PBDs; see <a href="/entry/214100">214100</a>), they sought one that contained patients with mutations in PAF1. They studied a Japanese girl (M.M.), aged 8 months, with typical clinical findings of Zellweger syndrome (PBD5A; <a href="/entry/614866">614866</a>) as well as accumulation of very long chain fatty acids in serum, absence of liver homogenates in all 3 peroxisomal beta-oxidation enzymes, absent peroxisomes in skin fibroblasts, and, at autopsy, macrogyria and polymicrogyria in the brain, hepatosplenomegaly, and many small cysts in the renal cortices bilaterally. Using a mammalian expression vector, <a href="#18" class="mim-tip-reference" title="Shimozawa, N., Tsukamoto, T., Suzuki, Y., Orii, T., Shirayoshi, Y., Mori, T., Fujiki, Y. <strong>A human gene responsible for Zellweger syndrome that affects peroxisome assembly.</strong> Science 255: 1132-1134, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1546315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1546315</a>] [<a href="https://doi.org/10.1126/science.1546315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1546315">Shimozawa et al. (1992)</a> transfected rat PAF1 into patient's cells and found development of peroxisomes, suggesting that the primary defect in patient was in the human ortholog of PAF1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1750930+1546315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using somatic cell fusion for demonstration of complementation, <a href="#13" class="mim-tip-reference" title="Roscher, A. A., Hoefler, S., Hoefler, G., Paschke, E., Paltauf, F., Moser, A., Moser, H. <strong>Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients.</strong> Pediat. Res. 26: 67-72, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2475849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2475849</a>] [<a href="https://doi.org/10.1203/00006450-198907000-00019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2475849">Roscher et al. (1989)</a>, <a href="#23" class="mim-tip-reference" title="Yajima, S., Suzuki, Y., Shimozawa, N., Yamaguchi, S., Orii, T., Fujiki, Y., Osumi, T., Hashimoto, T., Moser, H. W. <strong>Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells.</strong> Hum. Genet. 88: 491-499, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372585</a>] [<a href="https://doi.org/10.1007/BF00219334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1372585">Yajima et al. (1992)</a>, and <a href="#12" class="mim-tip-reference" title="Moser, A., Rasmussen, M., Naidu, S., Watkins, P., McGuinness, M., Hajra, A., Chen, G., Raymond, G., Walton, D., Skjeldal, O., Guggenheim, M, Jackson, L., Elias, E., Moser, H. <strong>Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.</strong> J. Pediat. 127: 13-22, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7541833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7541833</a>] [<a href="https://doi.org/10.1016/s0022-3476(95)70250-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7541833">Moser et al. (1995)</a> identified more than 10 complementation groups of peroxisome biogenesis disorders indicating that more than 10 genes are required for formation of this organelle. <a href="#16" class="mim-tip-reference" title="Shimozawa, N., Masuno, M., Suzuki, Y., Orii, T., Imaizumi, K., Kuroki, T., Tsukamoto, T., Osumi, T., Fujiki, Y. <strong>A human gene of Zellweger syndrome is mapped to chromosome 8q21.1. (Abstract)</strong> Am. J. Hum. Genet. 53 (suppl.): A947, 1993."None>Shimozawa et al. (1993)</a> found that their complementation groups C, E, and F corresponded to groups 3, 2, and 5, respectively, of <a href="#3" class="mim-tip-reference" title="Brul, S., Westerveld, A., Strijland, A., Wanders, R. J. A., Schram, A. W., Heymans, H. S. A., Schutgens, R. B. H., van den Bosch, H., Tager, J. M. <strong>Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions: a study using complementation analysis.</strong> J. Clin. Invest. 81: 1710-1715, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2454948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2454948</a>] [<a href="https://doi.org/10.1172/JCI113510" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2454948">Brul et al. (1988)</a>. Furthermore, complementation group 8 proved to be the same as Japanese group A. <a href="#17" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Orii, T., Moser, A., Moser, H. W., Wanders, R. J. A. <strong>Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. (Letter)</strong> Am. J. Hum. Genet. 52: 843-844, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7681622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7681622</a>]" pmid="7681622">Shimozawa et al. (1993)</a> provided a table comparing the complementation groups defined at Gifu University in Japan, Kennedy-Krieger Institute in Baltimore, and Amsterdam University. They pointed out that no obvious relationship between genotype and phenotype was found; the clinical phenotype in a single complementation group could be Zellweger syndrome, neonatal adrenoleukodystrophy, or infantile Refsum disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2475849+1372585+7681622+7541833+2454948" 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="#12" class="mim-tip-reference" title="Moser, A., Rasmussen, M., Naidu, S., Watkins, P., McGuinness, M., Hajra, A., Chen, G., Raymond, G., Walton, D., Skjeldal, O., Guggenheim, M, Jackson, L., Elias, E., Moser, H. <strong>Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.</strong> J. Pediat. 127: 13-22, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7541833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7541833</a>] [<a href="https://doi.org/10.1016/s0022-3476(95)70250-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7541833">Moser et al. (1995)</a> described a total of 16 complementation groups. Patient M.M. (<a href="#0001">170993.0001</a>) was found to be in complementation group 10, referred to as group F (<a href="#18" class="mim-tip-reference" title="Shimozawa, N., Tsukamoto, T., Suzuki, Y., Orii, T., Shirayoshi, Y., Mori, T., Fujiki, Y. <strong>A human gene responsible for Zellweger syndrome that affects peroxisome assembly.</strong> Science 255: 1132-1134, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1546315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1546315</a>] [<a href="https://doi.org/10.1126/science.1546315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1546315">Shimozawa et al., 1992</a>), indicating that PAF1 (PEX2) is the gene responsible for this complementation group. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1546315+7541833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Peroxisome Biogenesis Disorder 5B</em></strong></p><p>
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In a patient with infantile Refsum disease (IRD; see PBD5B, <a href="/entry/614867">614867</a>) from peroxisome biogenesis disorder complementation group 10 (group F), <a href="#15" class="mim-tip-reference" title="Shimozawa, N., Imamura, A., Zhang, Z., Suzuki, Y., Orii, T., Tsukamoto, T., Osumi, T., Fujiki, Y., Wanders, R. J. A., Besley, G., Kondo, N. <strong>Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.</strong> J. Med. Genet. 36: 779-781, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528859</a>] [<a href="https://doi.org/10.1136/jmg.36.10.779" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10528859">Shimozawa et al. (1999)</a> identified compound heterozygous mutations in the PEX2 gene (R118X, <a href="#0001">170993.0001</a> and E55K, <a href="#0002">170993.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10528859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 brothers, born of unrelated parents, with PBD5B manifest as isolated cerebellar ataxia, <a href="#14" class="mim-tip-reference" title="Sevin, C., Ferdinandusse, S., Waterham, H. R., Wanders, R. J., Aubourg, P. <strong>Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.</strong> Orphanet J. Rare Dis. 6: 8, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21392394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21392394</a>] [<a href="https://doi.org/10.1186/1750-1172-6-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21392394">Sevin et al. (2011)</a> identified a homozygous truncating mutation in the PEX2 gene (<a href="#0006">170993.0006</a>). Patient fibroblasts showed normal peroxisomes and contained catalase, suggesting that the mutant protein is localized correctly in the peroxisomal membrane and retains some activity. Further functional studies were not performed. The report expanded the phenotypic spectrum associated with PEX2 mutations to include mild and isolated autosomal recessive cerebellar ataxia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21392394" 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="#5" class="mim-tip-reference" title="Distel, B., Erdmann, R., Gould, S. J., Blobel, G., Crane, D. I., Cregg, J. M., Dodt, G., Fujiki, Y., Goodman, J. M., Just, W. W., Kiel, J. A. K. W., Kunau, W.-H., Lazarow, P. B., Mannaerts, G. P., Moser, H. W., Osumi, T., Rachubinski, R. A., Roscher, A., Subramani, S., Tabak, H. F., Tsukamoto, T., Valle, D., van der Klei, I., van Veldhoven, P. P., Veenhuis, M. <strong>A unified nomenclature for peroxisome biogenesis factors.</strong> J. Cell Biol. 135: 1-3, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858157</a>] [<a href="https://doi.org/10.1083/jcb.135.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8858157">Distel et al. (1996)</a> provided a unified nomenclature for peroxisome biogenesis. By the use of genetic approaches in a wide variety of experimental organisms, 13 proteins required for peroxisome biogenesis had been identified in the previous 10 years. Five of these have been shown to be defective in lethal PBDs. However, the diversity of experimental systems had led to a profusion of names for peroxisome assembly genes and proteins. <a href="#5" class="mim-tip-reference" title="Distel, B., Erdmann, R., Gould, S. J., Blobel, G., Crane, D. I., Cregg, J. M., Dodt, G., Fujiki, Y., Goodman, J. M., Just, W. W., Kiel, J. A. K. W., Kunau, W.-H., Lazarow, P. B., Mannaerts, G. P., Moser, H. W., Osumi, T., Rachubinski, R. A., Roscher, A., Subramani, S., Tabak, H. F., Tsukamoto, T., Valle, D., van der Klei, I., van Veldhoven, P. P., Veenhuis, M. <strong>A unified nomenclature for peroxisome biogenesis factors.</strong> J. Cell Biol. 135: 1-3, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858157</a>] [<a href="https://doi.org/10.1083/jcb.135.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8858157">Distel et al. (1996)</a> suggested that proteins involved in peroxisome biogenesis should be designated 'peroxins,' with PEX representing the gene acronym. Even though defects in peroxisomal metabolic enzymes or transcription factors may affect peroxisome proliferation and/or morphology, such proteins should not, they recommended, be included in this group. The proteins and genes were to be numbered by date of published characterization, both for known factors and those identified in the future. In this system, PAF1 becomes PEX2. When necessary, species of origin could be specified by 1-letter abbreviations for genus and species (e.g., hsPEX2). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8858157" 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="Chen, H., Liu, Z., Huang, X. <strong>Drosophila models of peroxisomal biogenesis disorder: peroxins are required for spermatogenesis and very-long-chain fatty acid metabolism.</strong> Hum. Molec. Genet. 19: 494-505, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19933170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19933170</a>] [<a href="https://doi.org/10.1093/hmg/ddp518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19933170">Chen et al. (2010)</a> reported that Drosophila pex mutants, including Pex2, Pex10 (<a href="/entry/602859">602859</a>), and Pex12 (<a href="/entry/601758">601758</a>), faithfully recapitulated several key features of human PBD, including impaired peroxisomal protein import, elevated very long chain fatty acid (VLCFA) levels, and growth retardation. Moreover, disruption of pex function resulted in spermatogenesis defects, including spermatocyte cytokinesis failure in Drosophila. Increased VLCFA levels enhanced these spermatogenesis defects, whereas reduced VLCFA levels alleviated them. <a href="#4" class="mim-tip-reference" title="Chen, H., Liu, Z., Huang, X. <strong>Drosophila models of peroxisomal biogenesis disorder: peroxins are required for spermatogenesis and very-long-chain fatty acid metabolism.</strong> Hum. Molec. Genet. 19: 494-505, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19933170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19933170</a>] [<a href="https://doi.org/10.1093/hmg/ddp518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19933170">Chen et al. (2010)</a> concluded that regulation of proper VLCFA levels by pex genes is crucial for spermatogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19933170" 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="#21" class="mim-tip-reference" title="Takashima, S., Takemoto, S., Toyoshi, K., Ohba, A., Shimozawa, N. <strong>Zebrafish model of human Zellweger syndrome reveals organ-specific accumulation of distinct fatty acid species and widespread gene expression changes.</strong> Molec. Genet. Metab. 133: 307-323, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34016526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34016526</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.05.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34016526">Takashima et al. (2021)</a> used TALEN-mediated gene editing to generate a zebrafish pex2 knockout. Only 50% of the fish survived to 2 weeks postfertilization, and only 14% survived to the end of the second month of life. The dying fish had little food in their digestive tracts, indicating abnormal eating. Immunostaining with antibodies against Pmp70 and catalase showed no detectable signal in livers of the mutant fish, indicating complete loss of peroxisomal structures. The mutant fish also developed liver steatosis as embryos. The mutant fish failed to mature sexually; the female fish demonstrated inhibited oogenesis, whereas male fish had mature testes and normal-appearing sperm, but likely failed to develop sexually mature behaviors. Fatty acid analysis demonstrated a distinct fatty acid profile in different tissues from the mutant fish, including brain, liver, and eyes. The livers accumulated saturated very long chain fatty acids and mono- and di-unsaturated fatty acids, whereas brains accumulated ultra very long chain polyunsaturated fatty acids. Transcriptome analysis revealed downregulation of genes involved in gamete development, cellular chemotaxis, muscle contraction, and inflammatory responses in the mutant fish. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34016526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs61752123 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752123;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/rs61752123?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=rs61752123" 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=rs61752123" 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=RCV000014703 OR RCV000032924 OR RCV000589554 OR RCV001275872 OR RCV002223176 OR RCV002496363 OR RCV004748521" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014703, RCV000032924, RCV000589554, RCV001275872, RCV002223176, RCV002496363, RCV004748521" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014703...</a>
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<p><strong><em>Peroxisome Biogenesis Disorder 5A (Zellweger)</em></strong></p><p>
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By sequencing PAF1 from patient M.M. with Zellweger syndrome (PBD5A; <a href="/entry/614866">614866</a>), <a href="#18" class="mim-tip-reference" title="Shimozawa, N., Tsukamoto, T., Suzuki, Y., Orii, T., Shirayoshi, Y., Mori, T., Fujiki, Y. <strong>A human gene responsible for Zellweger syndrome that affects peroxisome assembly.</strong> Science 255: 1132-1134, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1546315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1546315</a>] [<a href="https://doi.org/10.1126/science.1546315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1546315">Shimozawa et al. (1992)</a> found a C-to-T mutation at nucleotide 355 (counting from the first nucleotide of the initiator methionine codon). This resulted in change of codon 118 from CGA (arg) to TGA (stop). When PAF1 cDNA from M.M. was transfected back into her own fibroblasts, correction did not result. Both parents, who were not known to be related but came from the same village, were heterozygous for the mutation. By complementation studies, <a href="#16" class="mim-tip-reference" title="Shimozawa, N., Masuno, M., Suzuki, Y., Orii, T., Imaizumi, K., Kuroki, T., Tsukamoto, T., Osumi, T., Fujiki, Y. <strong>A human gene of Zellweger syndrome is mapped to chromosome 8q21.1. (Abstract)</strong> Am. J. Hum. Genet. 53 (suppl.): A947, 1993."None>Shimozawa et al. (1993)</a> demonstrated their group F is the same as complementation group 10 of <a href="#12" class="mim-tip-reference" title="Moser, A., Rasmussen, M., Naidu, S., Watkins, P., McGuinness, M., Hajra, A., Chen, G., Raymond, G., Walton, D., Skjeldal, O., Guggenheim, M, Jackson, L., Elias, E., Moser, H. <strong>Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.</strong> J. Pediat. 127: 13-22, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7541833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7541833</a>] [<a href="https://doi.org/10.1016/s0022-3476(95)70250-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7541833">Moser et al. (1995)</a>. They demonstrated, furthermore, that PAF1 transfected into fibroblasts of the Dutch patient reported by <a href="#3" class="mim-tip-reference" title="Brul, S., Westerveld, A., Strijland, A., Wanders, R. J. A., Schram, A. W., Heymans, H. S. A., Schutgens, R. B. H., van den Bosch, H., Tager, J. M. <strong>Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions: a study using complementation analysis.</strong> J. Clin. Invest. 81: 1710-1715, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2454948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2454948</a>] [<a href="https://doi.org/10.1172/JCI113510" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2454948">Brul et al. (1988)</a> resulted in the formation of normal peroxisomes. Furthermore, they showed that the cells of the Dutch patient were homozygous for the same 355C-T mutation as in the Japanese patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1546315+7541833+2454948" 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 female infant, born to nonconsanguineous Ashkenazi Jewish parents, with Zellweger syndrome, <a href="#8" class="mim-tip-reference" title="Gootjes, J., Elpeleg, O., Eyskens, F., Mandel, H., Mitanchez, D., Shimozawa, N., Suzuki, Y., Waterham, H. R., Wanders, R. J. A. <strong>Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.</strong> Pediat. Res. 55: 431-436, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14630978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14630978</a>] [<a href="https://doi.org/10.1203/01.PDR.0000106862.83469.8D" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14630978">Gootjes et al. (2004)</a> identified homozygosity for the R119X mutation. Her sister also had Zellweger syndrome. Both sibs died in early infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14630978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Peroxisome Biogenesis Disorder 5B</em></strong></p><p>
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<a href="#15" class="mim-tip-reference" title="Shimozawa, N., Imamura, A., Zhang, Z., Suzuki, Y., Orii, T., Tsukamoto, T., Osumi, T., Fujiki, Y., Wanders, R. J. A., Besley, G., Kondo, N. <strong>Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.</strong> J. Med. Genet. 36: 779-781, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528859</a>] [<a href="https://doi.org/10.1136/jmg.36.10.779" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10528859">Shimozawa et al. (1999)</a> identified the R119X mutation in compound heterozygosity with a missense mutation (<a href="#0002">170993.0002</a>) in a patient with infantile Refsum disease (see <a href="/entry/614867">614867</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10528859" 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 51-year-old Italian man, born of unrelated parents, with PBD5B manifest as childhood-onset cerebellar ataxia and an axonal sensorimotor polyneuropathy, <a href="#11" class="mim-tip-reference" title="Mignarri, A., Vinciguerra, C., Giorgio, A., Ferdinandusse, S., Waterham, H., Wanders, R., Bertini, E., Dotti, M. T., Federico, A. <strong>Zellweger spectrum disorder with mild phenotype caused by PEX2 gene mutations.</strong> JIMD Rep. 6: 43-46, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23430938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23430938</a>] [<a href="https://doi.org/10.1007/8904_2011_102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23430938">Mignarri et al. (2012)</a> identified compound heterozygosity for the R119X mutation and a 1-bp insertion (c.865_866insA; <a href="#0006">170993.0006</a>) in the PEX2 gene. Patient fibroblasts showed mosaicism for a peroxisomal defect, but further functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23430938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Variant Population Genetics</em></strong></p><p>
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By screening 2,093 individuals of Ashkenazi Jewish descent from an ultra-Orthodox community through the use of TaqMan genotyping assays, real-time PCR, and allelic discrimination, <a href="#6" class="mim-tip-reference" title="Fedick, A., Jalas, C., Treff, N. R. <strong>A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent.</strong> Clin. Genet. 85: 343-346, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23590336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23590336</a>] [<a href="https://doi.org/10.1111/cge.12170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23590336">Fedick et al. (2014)</a> found a carrier frequency of 0.813% (+/-0.3.85%) for the c.355C-T mutation (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752123;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs61752123</a>) in the PEX2 gene. They suggested that this mutation be used in screening panels for this population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23590336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs61752119 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752119;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=rs61752119" 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=rs61752119" 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=RCV000014704 OR RCV003323360" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014704, RCV003323360" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014704...</a>
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<p>In a patient with infantile Refsum disease (IRD; see PBD5B, <a href="/entry/614867">614867</a>) from peroxisome biogenesis disorder complementation group 10 (group F), <a href="#15" class="mim-tip-reference" title="Shimozawa, N., Imamura, A., Zhang, Z., Suzuki, Y., Orii, T., Tsukamoto, T., Osumi, T., Fujiki, Y., Wanders, R. J. A., Besley, G., Kondo, N. <strong>Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.</strong> J. Med. Genet. 36: 779-781, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528859</a>] [<a href="https://doi.org/10.1136/jmg.36.10.779" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10528859">Shimozawa et al. (1999)</a> identified a missense mutation leading to the substitution of lysine in place of glutamic acid at position 55 of the PEX2 gene product (E55K). This mutation was found in compound heterozygosity with R119X (<a href="#0001">170993.0001</a>). Transfection experiments demonstrated that cells containing the E55K mutation had mosaic activities of peroxisomal function, while those with the nonsense mutation did not. <a href="#15" class="mim-tip-reference" title="Shimozawa, N., Imamura, A., Zhang, Z., Suzuki, Y., Orii, T., Tsukamoto, T., Osumi, T., Fujiki, Y., Wanders, R. J. A., Besley, G., Kondo, N. <strong>Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.</strong> J. Med. Genet. 36: 779-781, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528859</a>] [<a href="https://doi.org/10.1136/jmg.36.10.779" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10528859">Shimozawa et al. (1999)</a> concluded that allelic heterogeneity affects peroxisomal protein import and functions and regulates the clinical severity in peroxisome biogenesis disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10528859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs61752122 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752122;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/rs61752122?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=rs61752122" 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=rs61752122" 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=RCV000128529 OR RCV000781714 OR RCV001275875 OR RCV005049426" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000128529, RCV000781714, RCV001275875, RCV005049426" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000128529...</a>
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<p>In a male newborn with Zellweger syndrome (PBD5A; <a href="/entry/614866">614866</a>), <a href="#8" class="mim-tip-reference" title="Gootjes, J., Elpeleg, O., Eyskens, F., Mandel, H., Mitanchez, D., Shimozawa, N., Suzuki, Y., Waterham, H. R., Wanders, R. J. A. <strong>Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.</strong> Pediat. Res. 55: 431-436, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14630978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14630978</a>] [<a href="https://doi.org/10.1203/01.PDR.0000106862.83469.8D" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14630978">Gootjes et al. (2004)</a> identified a homozygous deletion of 5 basepairs (c.279_283delGAGAT), resulting in a frameshift (Arg94fs98Ter) and termination of the protein before the first transmembrane domain. The patient was the fourth child of a first-cousin union and presented with severe respiratory distress, seizures, and severe hypotonia after delivery. He had polycystic kidneys bilaterally, and visual evoked potentials were absent. Levels of very long chain fatty acids and pipecolic acid were elevated. The boy died at the age of 2 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14630978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs61752128 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752128;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=rs61752128" 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=rs61752128" 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=RCV000128530" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000128530" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000128530</a>
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<p>In a male infant, born of consanguineous Moroccan parents, with Zellweger syndrome (PBD5A; <a href="/entry/614866">614866</a>), <a href="#8" class="mim-tip-reference" title="Gootjes, J., Elpeleg, O., Eyskens, F., Mandel, H., Mitanchez, D., Shimozawa, N., Suzuki, Y., Waterham, H. R., Wanders, R. J. A. <strong>Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.</strong> Pediat. Res. 55: 431-436, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14630978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14630978</a>] [<a href="https://doi.org/10.1203/01.PDR.0000106862.83469.8D" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14630978">Gootjes et al. (2004)</a> identified a homozygous c.739T-C transition in the PEX2 gene, predicted to result in a cys247-to-arg (C247R) substitution. The newborn had low birth weight for gestational age, severe hypotonia, dysmorphic features, seizures, absent corpus callosum, severe icterus, as well as other features of the disorder. Electron microscopy showed absence of peroxisomes. The boy died at 3 months of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14630978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs61752127 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752127;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=rs61752127" 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=rs61752127" 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=RCV000128531" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000128531" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000128531</a>
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<p>In a patient with infantile Refsum disease (PBD5B; <a href="/entry/614867">614867</a>), originally reported by <a href="#9" class="mim-tip-reference" title="Mandel, H., Espeel, M., Roels, F., Sofer, N., Luder, A., Iancu, T. C., Aizin, A., Berant, M., Wanders, R. J. A., Schutgens, R. B. H. <strong>A new type of peroxisomal disorder with variable expression in liver and fibroblasts.</strong> J. Pediat. 125: 549-555, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7931872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7931872</a>] [<a href="https://doi.org/10.1016/s0022-3476(94)70006-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7931872">Mandel et al. (1994)</a>, <a href="#8" class="mim-tip-reference" title="Gootjes, J., Elpeleg, O., Eyskens, F., Mandel, H., Mitanchez, D., Shimozawa, N., Suzuki, Y., Waterham, H. R., Wanders, R. J. A. <strong>Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.</strong> Pediat. Res. 55: 431-436, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14630978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14630978</a>] [<a href="https://doi.org/10.1203/01.PDR.0000106862.83469.8D" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14630978">Gootjes et al. (2004)</a> identified a homozygous c.669G-A transition in the PEX2 gene, resulting in a trp223-to-ter (W223X) substitution between the second transmembrane domain and the zinc finger binding domain. The boy was born to consanguineous Israeli Arab parents. His development was described as normal in infancy, but by the age of 22 months, he had hypotonia, could not walk unassisted, and had cerebellar and vermian atrophy on MRI. The patient continued to deteriorate and died from pneumonia at age 13. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7931872+14630978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs724160029 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs724160029;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/rs724160029?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=rs724160029" 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=rs724160029" 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=RCV000149879" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149879" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149879</a>
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<p>In 2 brothers, born of unrelated parents, with PBD5B (<a href="/entry/614867">614867</a>) manifest as isolated cerebellar ataxia beginning in the first or second decade, <a href="#14" class="mim-tip-reference" title="Sevin, C., Ferdinandusse, S., Waterham, H. R., Wanders, R. J., Aubourg, P. <strong>Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.</strong> Orphanet J. Rare Dis. 6: 8, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21392394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21392394</a>] [<a href="https://doi.org/10.1186/1750-1172-6-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21392394">Sevin et al. (2011)</a> identified a homozygous 1-bp insertion (c.865_866insA) in the PEX2 gene, resulting in a frameshift and premature termination (Ser289LysfsTer36). The patient's unaffected mother was heterozygous for the mutation and 2 unaffected sisters did not carry the mutation; paternal DNA was not available. The mutation was not present in a control database. Patient fibroblasts showed normal peroxisomes and contained catalase, suggesting that the mutant protein is localized correctly in the peroxisomal membrane and retains some activity. Further functional studies were not performed. The report expanded the phenotypic spectrum associated with PEX2 mutations to include mild and isolated autosomal recessive cerebellar ataxia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21392394" 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 51-year-old Italian man, born of unrelated parents, with PBD5B manifest as childhood-onset cerebellar ataxia and an axonal sensorimotor polyneuropathy, <a href="#11" class="mim-tip-reference" title="Mignarri, A., Vinciguerra, C., Giorgio, A., Ferdinandusse, S., Waterham, H., Wanders, R., Bertini, E., Dotti, M. T., Federico, A. <strong>Zellweger spectrum disorder with mild phenotype caused by PEX2 gene mutations.</strong> JIMD Rep. 6: 43-46, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23430938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23430938</a>] [<a href="https://doi.org/10.1007/8904_2011_102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23430938">Mignarri et al. (2012)</a> identified compound heterozygosity for the c.865_866insA mutation and an R119X mutation (<a href="#0001">170993.0001</a>) in the PEX2 gene. Patient fibroblasts showed mosaicism for a peroxisomal defect, but further functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23430938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Berteaux-Lecellier1995" class="mim-anchor"></a>
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Berteaux-Lecellier, V., Picard, M., Thompson-Coffe, C., Zickler, D., Panvier-Adoutte, A., Simonet, J.-M.
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<strong>A nonmammalian homolog of the PAF1 gene (Zellweger syndrome) discovered as a gene involved in caryogamy in the fungus podospora anserina.</strong>
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Cell 81: 1043-1051, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7600573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7600573</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7600573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(05)80009-1" target="_blank">Full Text</a>]
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Biermanns, M., Gartner, J.
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<strong>Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10891359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10891359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10891359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.2000.3039" target="_blank">Full Text</a>]
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Brul, S., Westerveld, A., Strijland, A., Wanders, R. J. A., Schram, A. W., Heymans, H. S. A., Schutgens, R. B. H., van den Bosch, H., Tager, J. M.
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<strong>Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions: a study using complementation analysis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2454948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2454948</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2454948" 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/10.1172/JCI113510" target="_blank">Full Text</a>]
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Chen, H., Liu, Z., Huang, X.
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<strong>Drosophila models of peroxisomal biogenesis disorder: peroxins are required for spermatogenesis and very-long-chain fatty acid metabolism.</strong>
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Hum. Molec. Genet. 19: 494-505, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19933170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19933170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19933170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Distel, B., Erdmann, R., Gould, S. J., Blobel, G., Crane, D. I., Cregg, J. M., Dodt, G., Fujiki, Y., Goodman, J. M., Just, W. W., Kiel, J. A. K. W., Kunau, W.-H., Lazarow, P. B., Mannaerts, G. P., Moser, H. W., Osumi, T., Rachubinski, R. A., Roscher, A., Subramani, S., Tabak, H. F., Tsukamoto, T., Valle, D., van der Klei, I., van Veldhoven, P. P., Veenhuis, M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858157</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8858157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fedick, A., Jalas, C., Treff, N. R.
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<strong>A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent.</strong>
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Clin. Genet. 85: 343-346, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23590336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23590336</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23590336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gartner, J., Moser, H., Valle, D.
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<strong>Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.</strong>
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Nature Genet. 1: 16-23, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301993</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1301993" 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/ng0492-16" target="_blank">Full Text</a>]
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Gootjes, J., Elpeleg, O., Eyskens, F., Mandel, H., Mitanchez, D., Shimozawa, N., Suzuki, Y., Waterham, H. R., Wanders, R. J. A.
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<strong>Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.</strong>
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Pediat. Res. 55: 431-436, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14630978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14630978</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14630978" 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/10.1203/01.PDR.0000106862.83469.8D" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(94)70006-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1994.1144" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/8904_2011_102" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(95)70250-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1203/00006450-198907000-00019" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/350077a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00219334" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 09/09/2021
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Cassandra L. Kniffin - updated : 1/2/2015<br>Ingrid M. Wentzensen - updated : 7/7/2014<br>Ingrid M. Wentzensen - updated : 4/25/2014<br>George E. Tiller - updated : 1/5/2011<br>Victor A. McKusick - updated : 6/15/2004<br>Paul J. Converse - updated : 12/4/2000<br>Michael J. Wright - updated : 2/4/2000<br>David Valle - edited : 6/24/1997
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Victor A. McKusick : 12/31/1992
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carol : 07/18/2019<br>alopez : 03/06/2017<br>carol : 06/29/2015<br>carol : 1/16/2015<br>joanna : 1/16/2015<br>mcolton : 1/7/2015<br>ckniffin : 1/2/2015<br>carol : 10/10/2014<br>carol : 7/9/2014<br>carol : 7/8/2014<br>carol : 7/7/2014<br>carol : 5/23/2014<br>mcolton : 4/25/2014<br>carol : 4/25/2014<br>alopez : 10/25/2012<br>alopez : 10/24/2012<br>alopez : 10/8/2012<br>wwang : 1/18/2011<br>terry : 1/5/2011<br>carol : 11/30/2005<br>tkritzer : 7/28/2004<br>tkritzer : 7/20/2004<br>terry : 6/15/2004<br>carol : 3/17/2004<br>alopez : 6/17/2002<br>mgross : 12/5/2000<br>mgross : 12/5/2000<br>terry : 12/4/2000<br>alopez : 2/4/2000<br>alopez : 10/27/1998<br>carol : 9/4/1998<br>terry : 7/24/1998<br>terry : 7/24/1998<br>carol : 3/21/1998<br>alopez : 7/30/1997<br>alopez : 7/7/1997<br>joanna : 6/24/1997<br>mark : 5/5/1997<br>jenny : 12/12/1996<br>terry : 12/9/1996<br>terry : 11/27/1996<br>terry : 11/26/1996<br>terry : 11/26/1996<br>carol : 10/2/1996<br>mark : 2/26/1996<br>mark : 7/31/1995<br>mimadm : 1/14/1995<br>carol : 5/31/1994<br>warfield : 4/12/1994<br>carol : 11/30/1993<br>carol : 6/7/1993
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</span>
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<span class="mim-font">
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<strong>*</strong> 170993
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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PEROXISOME BIOGENESIS FACTOR 2; PEX2
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</span>
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</h3>
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</div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<h4>
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<span class="mim-font">
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PEROXISOMAL MEMBRANE PROTEIN 3; PXMP3<br />
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PEROXISOMAL MEMBRANE PROTEIN, 35-KD; PMP35<br />
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PEROXISOMAL ASSEMBLY FACTOR 1; PAF1<br />
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PEROXIN 2
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</span>
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</h4>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PEX2</em></strong>
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</span>
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</p>
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<strong>
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<em>
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Cytogenetic location: 8q21.13
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Genomic coordinates <span class="small">(GRCh38)</span> : 8:76,980,258-77,001,044 </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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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<th>
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Location
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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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Inheritance
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<th>
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="2">
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<span class="mim-font">
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8q21.13
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<td>
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<span class="mim-font">
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Peroxisome biogenesis disorder 5A (Zellweger)
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</td>
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<td>
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<span class="mim-font">
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614866
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<td>
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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Peroxisome biogenesis disorder 5B
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<td>
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<span class="mim-font">
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614867
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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</tbody>
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</table>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using rat PAF1 cDNA to probe a human liver cDNA library, Shimozawa et al. (1992) isolated a cDNA with a 915-bp open reading frame that shares 86% nucleotide identity and 88% deduced amino acid identity with the rat gene. Both sequences encode a protein with 2 highly conserved, putative membrane spanning sequences and 7 cysteine residues in the C-terminal region. Transfection of human PAF1 cDNA corrected the peroxisome assembly defect in the cells of a Japanese girl (M.M.) with Zellweger syndrome (see 214100) but not in cells of other complementation types (Gartner et al., 1992). As predicted by these results, fusion of the patient's fibroblasts with peroxisome-deficient Chinese hamster ovary mutant Z65 cells failed to restore peroxisomes. Fusion of Z65 cells with fibroblasts of other peroxisome biogenesis disorder (PBD; 601539) complementation groups did result in restoration of peroxisomes. </p><p>Berteaux-Lecellier et al. (1995) identified a nonmammalian homolog of the PAF1 gene. The discovery was serendipitous, as one would not expect that caryogamy (nuclear fusion) in the filamentous fungus Podospora anserina requires peroxisomes. In filamentous ascomycetes, caryogamy occurs as part of the process leading to meiosis and sexual sporulation. The original car1 mutants were identified in a systematic search for sporulation-deficient mutants (Simonet and Zickler, 1972; Simonet and Zickler, 1978). Berteaux-Lecellier et al. (1995) cloned the car1 gene by complementation. The polypeptide deduced from its sequence showed similarity to the mammalian PAF1 genes: the fungal and the human polypeptides displayed 27% identity over 340 residues; car1 contains the same kind of zinc finger motif as PAF1; and finally, 1 of the 2 putative transmembrane domains of PAF1 is strikingly conserved in the car1 protein. A combination of molecular, physiologic, genetic, and ultrastructural approaches provided evidence that the P. anserina car1 protein is, in fact, a peroxisomal protein. </p><p>Using phage and PAC genomic libraries, Biermanns and Gartner (2000) obtained clones containing the full-length PEX2 gene. Northern blot analysis detected ubiquitous expression of a predominant 1.5-kb transcript as well as a 2.4-kb transcript, suggesting that there might be different isoforms; highest expression was detected in skeletal muscle, heart, and pancreas. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Biermanns and Gartner (2000) determined that the PEX2 gene contains 4 exons and spans approximately 17.5 kb. The first 3 exons range from 32 to 110 bp in length, and the entire coding sequence is in the 1,275-bp exon 4. Promoter analysis revealed tissue-specific transcription start sites and features characteristic of a housekeeping gene, but no peroxisomal proliferator response elements were identified. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By fluorescence in situ hybridization, Shimozawa et al. (1993) mapped the PAF1 gene to chromosome 8q21.1; in the full publication, Masuno et al. (1994) used the symbol PXMP3. Biermanns and Gartner (2000) mapped the PEX2 gene to chromosome 8q13-q21 by FISH and localized the mouse Pex2 gene to the proximal region of chromosome 3. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Peroxisome Biogenesis Disorder 5A (Zellweger)</em></strong></p><p>
|
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Shimozawa et al. (1992) demonstrated a point mutation (170993.0001) in peroxisome assembly factor-1 (PAF1), a 35-kD peroxisomal membrane protein (PMP35) for which the cDNA had been cloned by Tsukamoto et al. (1991). They had previously shown that this protein corrected the Zellweger-like defect in peroxisome assembly in a peroxisome-deficient Chinese hamster ovary mutant cell line (Z65). From among the 10 or more complementation groups among the peroxisome biogenesis disorders (PBDs; see 214100), they sought one that contained patients with mutations in PAF1. They studied a Japanese girl (M.M.), aged 8 months, with typical clinical findings of Zellweger syndrome (PBD5A; 614866) as well as accumulation of very long chain fatty acids in serum, absence of liver homogenates in all 3 peroxisomal beta-oxidation enzymes, absent peroxisomes in skin fibroblasts, and, at autopsy, macrogyria and polymicrogyria in the brain, hepatosplenomegaly, and many small cysts in the renal cortices bilaterally. Using a mammalian expression vector, Shimozawa et al. (1992) transfected rat PAF1 into patient's cells and found development of peroxisomes, suggesting that the primary defect in patient was in the human ortholog of PAF1. </p><p>Using somatic cell fusion for demonstration of complementation, Roscher et al. (1989), Yajima et al. (1992), and Moser et al. (1995) identified more than 10 complementation groups of peroxisome biogenesis disorders indicating that more than 10 genes are required for formation of this organelle. Shimozawa et al. (1993) found that their complementation groups C, E, and F corresponded to groups 3, 2, and 5, respectively, of Brul et al. (1988). Furthermore, complementation group 8 proved to be the same as Japanese group A. Shimozawa et al. (1993) provided a table comparing the complementation groups defined at Gifu University in Japan, Kennedy-Krieger Institute in Baltimore, and Amsterdam University. They pointed out that no obvious relationship between genotype and phenotype was found; the clinical phenotype in a single complementation group could be Zellweger syndrome, neonatal adrenoleukodystrophy, or infantile Refsum disease. </p><p>Moser et al. (1995) described a total of 16 complementation groups. Patient M.M. (170993.0001) was found to be in complementation group 10, referred to as group F (Shimozawa et al., 1992), indicating that PAF1 (PEX2) is the gene responsible for this complementation group. </p><p><strong><em>Peroxisome Biogenesis Disorder 5B</em></strong></p><p>
|
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In a patient with infantile Refsum disease (IRD; see PBD5B, 614867) from peroxisome biogenesis disorder complementation group 10 (group F), Shimozawa et al. (1999) identified compound heterozygous mutations in the PEX2 gene (R118X, 170993.0001 and E55K, 170993.0002). </p><p>In 2 brothers, born of unrelated parents, with PBD5B manifest as isolated cerebellar ataxia, Sevin et al. (2011) identified a homozygous truncating mutation in the PEX2 gene (170993.0006). Patient fibroblasts showed normal peroxisomes and contained catalase, suggesting that the mutant protein is localized correctly in the peroxisomal membrane and retains some activity. Further functional studies were not performed. The report expanded the phenotypic spectrum associated with PEX2 mutations to include mild and isolated autosomal recessive cerebellar ataxia. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Distel et al. (1996) provided a unified nomenclature for peroxisome biogenesis. By the use of genetic approaches in a wide variety of experimental organisms, 13 proteins required for peroxisome biogenesis had been identified in the previous 10 years. Five of these have been shown to be defective in lethal PBDs. However, the diversity of experimental systems had led to a profusion of names for peroxisome assembly genes and proteins. Distel et al. (1996) suggested that proteins involved in peroxisome biogenesis should be designated 'peroxins,' with PEX representing the gene acronym. Even though defects in peroxisomal metabolic enzymes or transcription factors may affect peroxisome proliferation and/or morphology, such proteins should not, they recommended, be included in this group. The proteins and genes were to be numbered by date of published characterization, both for known factors and those identified in the future. In this system, PAF1 becomes PEX2. When necessary, species of origin could be specified by 1-letter abbreviations for genus and species (e.g., hsPEX2). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Chen et al. (2010) reported that Drosophila pex mutants, including Pex2, Pex10 (602859), and Pex12 (601758), faithfully recapitulated several key features of human PBD, including impaired peroxisomal protein import, elevated very long chain fatty acid (VLCFA) levels, and growth retardation. Moreover, disruption of pex function resulted in spermatogenesis defects, including spermatocyte cytokinesis failure in Drosophila. Increased VLCFA levels enhanced these spermatogenesis defects, whereas reduced VLCFA levels alleviated them. Chen et al. (2010) concluded that regulation of proper VLCFA levels by pex genes is crucial for spermatogenesis. </p><p>Takashima et al. (2021) used TALEN-mediated gene editing to generate a zebrafish pex2 knockout. Only 50% of the fish survived to 2 weeks postfertilization, and only 14% survived to the end of the second month of life. The dying fish had little food in their digestive tracts, indicating abnormal eating. Immunostaining with antibodies against Pmp70 and catalase showed no detectable signal in livers of the mutant fish, indicating complete loss of peroxisomal structures. The mutant fish also developed liver steatosis as embryos. The mutant fish failed to mature sexually; the female fish demonstrated inhibited oogenesis, whereas male fish had mature testes and normal-appearing sperm, but likely failed to develop sexually mature behaviors. Fatty acid analysis demonstrated a distinct fatty acid profile in different tissues from the mutant fish, including brain, liver, and eyes. The livers accumulated saturated very long chain fatty acids and mono- and di-unsaturated fatty acids, whereas brains accumulated ultra very long chain polyunsaturated fatty acids. Transcriptome analysis revealed downregulation of genes involved in gamete development, cellular chemotaxis, muscle contraction, and inflammatory responses in the mutant fish. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 PEROXISOME BIOGENESIS DISORDER 5A (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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PEROXISOME BIOGENESIS DISORDER 5B, INCLUDED
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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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PEX2, ARG118TER ({dbSNP rs61752123})
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<br />
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SNP: rs61752123,
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gnomAD: rs61752123,
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ClinVar: RCV000014703, RCV000032924, RCV000589554, RCV001275872, RCV002223176, RCV002496363, RCV004748521
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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 />
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<p><strong><em>Peroxisome Biogenesis Disorder 5A (Zellweger)</em></strong></p><p>
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By sequencing PAF1 from patient M.M. with Zellweger syndrome (PBD5A; 614866), Shimozawa et al. (1992) found a C-to-T mutation at nucleotide 355 (counting from the first nucleotide of the initiator methionine codon). This resulted in change of codon 118 from CGA (arg) to TGA (stop). When PAF1 cDNA from M.M. was transfected back into her own fibroblasts, correction did not result. Both parents, who were not known to be related but came from the same village, were heterozygous for the mutation. By complementation studies, Shimozawa et al. (1993) demonstrated their group F is the same as complementation group 10 of Moser et al. (1995). They demonstrated, furthermore, that PAF1 transfected into fibroblasts of the Dutch patient reported by Brul et al. (1988) resulted in the formation of normal peroxisomes. Furthermore, they showed that the cells of the Dutch patient were homozygous for the same 355C-T mutation as in the Japanese patient. </p><p>In a female infant, born to nonconsanguineous Ashkenazi Jewish parents, with Zellweger syndrome, Gootjes et al. (2004) identified homozygosity for the R119X mutation. Her sister also had Zellweger syndrome. Both sibs died in early infancy. </p><p><strong><em>Peroxisome Biogenesis Disorder 5B</em></strong></p><p>
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Shimozawa et al. (1999) identified the R119X mutation in compound heterozygosity with a missense mutation (170993.0002) in a patient with infantile Refsum disease (see 614867). </p><p>In a 51-year-old Italian man, born of unrelated parents, with PBD5B manifest as childhood-onset cerebellar ataxia and an axonal sensorimotor polyneuropathy, Mignarri et al. (2012) identified compound heterozygosity for the R119X mutation and a 1-bp insertion (c.865_866insA; 170993.0006) in the PEX2 gene. Patient fibroblasts showed mosaicism for a peroxisomal defect, but further functional studies were not performed. </p><p><strong><em>Variant Population Genetics</em></strong></p><p>
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By screening 2,093 individuals of Ashkenazi Jewish descent from an ultra-Orthodox community through the use of TaqMan genotyping assays, real-time PCR, and allelic discrimination, Fedick et al. (2014) found a carrier frequency of 0.813% (+/-0.3.85%) for the c.355C-T mutation (rs61752123) in the PEX2 gene. They suggested that this mutation be used in screening panels for this population. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 PEROXISOME BIOGENESIS DISORDER 5B</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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PEX2, GLU55LYS
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<br />
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SNP: rs61752119,
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ClinVar: RCV000014704, RCV003323360
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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 infantile Refsum disease (IRD; see PBD5B, 614867) from peroxisome biogenesis disorder complementation group 10 (group F), Shimozawa et al. (1999) identified a missense mutation leading to the substitution of lysine in place of glutamic acid at position 55 of the PEX2 gene product (E55K). This mutation was found in compound heterozygosity with R119X (170993.0001). Transfection experiments demonstrated that cells containing the E55K mutation had mosaic activities of peroxisomal function, while those with the nonsense mutation did not. Shimozawa et al. (1999) concluded that allelic heterogeneity affects peroxisomal protein import and functions and regulates the clinical severity in peroxisome biogenesis disorders. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 PEROXISOME BIOGENESIS DISORDER 5A (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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PEX2, 5-BP DEL, NT279
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<br />
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SNP: rs61752122,
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gnomAD: rs61752122,
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ClinVar: RCV000128529, RCV000781714, RCV001275875, RCV005049426
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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 male newborn with Zellweger syndrome (PBD5A; 614866), Gootjes et al. (2004) identified a homozygous deletion of 5 basepairs (c.279_283delGAGAT), resulting in a frameshift (Arg94fs98Ter) and termination of the protein before the first transmembrane domain. The patient was the fourth child of a first-cousin union and presented with severe respiratory distress, seizures, and severe hypotonia after delivery. He had polycystic kidneys bilaterally, and visual evoked potentials were absent. Levels of very long chain fatty acids and pipecolic acid were elevated. The boy died at the age of 2 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>.0004 PEROXISOME BIOGENESIS DISORDER 5A (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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PEX2, CYS247ARG
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<br />
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SNP: rs61752128,
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ClinVar: RCV000128530
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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 male infant, born of consanguineous Moroccan parents, with Zellweger syndrome (PBD5A; 614866), Gootjes et al. (2004) identified a homozygous c.739T-C transition in the PEX2 gene, predicted to result in a cys247-to-arg (C247R) substitution. The newborn had low birth weight for gestational age, severe hypotonia, dysmorphic features, seizures, absent corpus callosum, severe icterus, as well as other features of the disorder. Electron microscopy showed absence of peroxisomes. The boy died at 3 months of age. </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>.0005 PEROXISOME BIOGENESIS DISORDER 5B</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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PEX2, TRP223TER
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<br />
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SNP: rs61752127,
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ClinVar: RCV000128531
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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 infantile Refsum disease (PBD5B; 614867), originally reported by Mandel et al. (1994), Gootjes et al. (2004) identified a homozygous c.669G-A transition in the PEX2 gene, resulting in a trp223-to-ter (W223X) substitution between the second transmembrane domain and the zinc finger binding domain. The boy was born to consanguineous Israeli Arab parents. His development was described as normal in infancy, but by the age of 22 months, he had hypotonia, could not walk unassisted, and had cerebellar and vermian atrophy on MRI. The patient continued to deteriorate and died from pneumonia at age 13. </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>.0006 PEROXISOME BIOGENESIS DISORDER 5B</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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PEX2, 1-BP INS, 865A
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<br />
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SNP: rs724160029,
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gnomAD: rs724160029,
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ClinVar: RCV000149879
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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 2 brothers, born of unrelated parents, with PBD5B (614867) manifest as isolated cerebellar ataxia beginning in the first or second decade, Sevin et al. (2011) identified a homozygous 1-bp insertion (c.865_866insA) in the PEX2 gene, resulting in a frameshift and premature termination (Ser289LysfsTer36). The patient's unaffected mother was heterozygous for the mutation and 2 unaffected sisters did not carry the mutation; paternal DNA was not available. The mutation was not present in a control database. Patient fibroblasts showed normal peroxisomes and contained catalase, suggesting that the mutant protein is localized correctly in the peroxisomal membrane and retains some activity. Further functional studies were not performed. The report expanded the phenotypic spectrum associated with PEX2 mutations to include mild and isolated autosomal recessive cerebellar ataxia. </p><p>In a 51-year-old Italian man, born of unrelated parents, with PBD5B manifest as childhood-onset cerebellar ataxia and an axonal sensorimotor polyneuropathy, Mignarri et al. (2012) identified compound heterozygosity for the c.865_866insA mutation and an R119X mutation (170993.0001) in the PEX2 gene. Patient fibroblasts showed mosaicism for a peroxisomal defect, but further functional studies were not performed. </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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<div>
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<ol>
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<li>
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Berteaux-Lecellier, V., Picard, M., Thompson-Coffe, C., Zickler, D., Panvier-Adoutte, A., Simonet, J.-M.
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<strong>A nonmammalian homolog of the PAF1 gene (Zellweger syndrome) discovered as a gene involved in caryogamy in the fungus podospora anserina.</strong>
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Cell 81: 1043-1051, 1995.
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Brul, S., Westerveld, A., Strijland, A., Wanders, R. J. A., Schram, A. W., Heymans, H. S. A., Schutgens, R. B. H., van den Bosch, H., Tager, J. M.
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Distel, B., Erdmann, R., Gould, S. J., Blobel, G., Crane, D. I., Cregg, J. M., Dodt, G., Fujiki, Y., Goodman, J. M., Just, W. W., Kiel, J. A. K. W., Kunau, W.-H., Lazarow, P. B., Mannaerts, G. P., Moser, H. W., Osumi, T., Rachubinski, R. A., Roscher, A., Subramani, S., Tabak, H. F., Tsukamoto, T., Valle, D., van der Klei, I., van Veldhoven, P. P., Veenhuis, M.
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Fedick, A., Jalas, C., Treff, N. R.
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<strong>A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent.</strong>
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Gartner, J., Moser, H., Valle, D.
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<strong>Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.</strong>
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Gootjes, J., Elpeleg, O., Eyskens, F., Mandel, H., Mitanchez, D., Shimozawa, N., Suzuki, Y., Waterham, H. R., Wanders, R. J. A.
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<strong>Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.</strong>
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Mandel, H., Espeel, M., Roels, F., Sofer, N., Luder, A., Iancu, T. C., Aizin, A., Berant, M., Wanders, R. J. A., Schutgens, R. B. H.
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Moser, A., Rasmussen, M., Naidu, S., Watkins, P., McGuinness, M., Hajra, A., Chen, G., Raymond, G., Walton, D., Skjeldal, O., Guggenheim, M, Jackson, L., Elias, E., Moser, H.
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Sevin, C., Ferdinandusse, S., Waterham, H. R., Wanders, R. J., Aubourg, P.
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<li>
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<p class="mim-text-font">
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Shimozawa, N., Imamura, A., Zhang, Z., Suzuki, Y., Orii, T., Tsukamoto, T., Osumi, T., Fujiki, Y., Wanders, R. J. A., Besley, G., Kondo, N.
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<strong>Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.</strong>
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[PubMed: 10528859]
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<li>
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<p class="mim-text-font">
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Shimozawa, N., Masuno, M., Suzuki, Y., Orii, T., Imaizumi, K., Kuroki, T., Tsukamoto, T., Osumi, T., Fujiki, Y.
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<strong>A human gene of Zellweger syndrome is mapped to chromosome 8q21.1. (Abstract)</strong>
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Am. J. Hum. Genet. 53 (suppl.): A947, 1993.
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</p>
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<li>
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<p class="mim-text-font">
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|
Shimozawa, N., Suzuki, Y., Orii, T., Moser, A., Moser, H. W., Wanders, R. J. A.
|
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<strong>Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. (Letter)</strong>
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Am. J. Hum. Genet. 52: 843-844, 1993.
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|
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[PubMed: 7681622]
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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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|
Shimozawa, N., Tsukamoto, T., Suzuki, Y., Orii, T., Shirayoshi, Y., Mori, T., Fujiki, Y.
|
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<strong>A human gene responsible for Zellweger syndrome that affects peroxisome assembly.</strong>
|
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Science 255: 1132-1134, 1992.
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[PubMed: 1546315]
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[Full Text: https://doi.org/10.1126/science.1546315]
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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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Simonet, J. M., Zickler, D.
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<strong>Mutations affecting meiosis in Podospora anserina. I. Cytological studies.</strong>
|
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Chromosoma 37: 327-351, 1972.
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[PubMed: 4340133]
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[Full Text: https://doi.org/10.1007/BF00319874]
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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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Simonet, J. M., Zickler, D.
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<strong>Genes involved in caryogamy and meiosis in Podospora anserina.</strong>
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Takashima, S., Takemoto, S., Toyoshi, K., Ohba, A., Shimozawa, N.
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<strong>Zebrafish model of human Zellweger syndrome reveals organ-specific accumulation of distinct fatty acid species and widespread gene expression changes.</strong>
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Tsukamoto, T., Miura, S., Fujiki, Y.
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<strong>Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant.</strong>
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Yajima, S., Suzuki, Y., Shimozawa, N., Yamaguchi, S., Orii, T., Fujiki, Y., Osumi, T., Hashimoto, T., Moser, H. W.
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[Full Text: https://doi.org/10.1007/BF00219334]
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Hilary J. Vernon - updated : 09/09/2021<br>Cassandra L. Kniffin - updated : 1/2/2015<br>Ingrid M. Wentzensen - updated : 7/7/2014<br>Ingrid M. Wentzensen - updated : 4/25/2014<br>George E. Tiller - updated : 1/5/2011<br>Victor A. McKusick - updated : 6/15/2004<br>Paul J. Converse - updated : 12/4/2000<br>Michael J. Wright - updated : 2/4/2000<br>David Valle - edited : 6/24/1997
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Victor A. McKusick : 12/31/1992
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