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Entry
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- *603164 - PEROXISOME BIOGENESIS FACTOR 3; PEX3
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- OMIM
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<p>
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<span class="h4">*603164</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603164">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<h4 class="panel-title">
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<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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<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 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=ENSG00000034693;t=ENST00000367591" 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=8504" 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=603164" 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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<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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<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=ENSG00000034693;t=ENST00000367591" 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_003630" 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_003630" 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=603164" 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=04407&isoform_id=04407_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/PEX3" 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/3336882,3914303,4092648,4218426,4505727,8926849,15778945,15930134,33415063,49457077,119568251,194374857" 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/P56589" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=8504" 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=ENSG00000034693;t=ENST00000367591" 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=PEX3" 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=PEX3" 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+8504" 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/PEX3" 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:8504" 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/8504" 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=chr6&hgg_gene=ENST00000367591.5&hgg_start=143450805&hgg_end=143490616&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 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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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8858" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:8858" 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=603164[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=603164[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/ENSG00000034693" 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=PEX3" 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=PEX3" 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=PEX3" 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=PEX3&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/PA33200" 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:8858" 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/FBgn0036484.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:1929646" 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/PEX3#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:1929646" 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/8504/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=8504" 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=WBGene00004193;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-040426-979" 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">
|
|
<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:8504" 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=PEX3&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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603164
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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 3; PEX3
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</span>
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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PEROXIN 3
|
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PEX3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PEX3</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/6/916?start=-3&limit=10&highlight=916">6q24.2</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:143450805-143490616&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'})">6:143,450,805-143,490,616</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>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
|
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</th>
|
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<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=617370,614882" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/916?start=-3&limit=10&highlight=916">
|
|
6q24.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Peroxisome biogenesis disorder 10B
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/617370"> 617370 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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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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|
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|
|
</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Peroxisome biogenesis disorder 10A (Zellweger)
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614882"> 614882 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
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</tbody>
|
|
</table>
|
|
</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/603164" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The S. cerevisiae Pex3 protein is a peroxisomal integral membrane protein required for peroxisome biogenesis and integrity. By searching an EST database for sequences similar to the yeast Pichia pastoris Pex3 gene, <a href="#2" class="mim-tip-reference" title="Kammerer, S., Holzinger, A., Welsch, U., Roscher, A. A. <strong>Cloning and characterization of the gene encoding the human peroxisomal assembly protein Pex3p.</strong> FEBS Lett. 429: 53-60, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9657383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9657383</a>] [<a href="https://doi.org/10.1016/s0014-5793(98)00557-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9657383">Kammerer et al. (1998)</a> identified human PEX3 cDNAs. Two of the cDNAs represent alternatively polyadenylated transcripts. The deduced 373-amino acid protein shares 23% and 20% sequence identity with P. pastoris and S. cerevisiae Pex3, respectively. The yeast and human proteins have 2 predicted transmembrane regions in their N-terminal halves. Using immunofluorescence, the authors localized epitope-tagged PEX3 to the peroxisome. Overexpression of PEX3 in mammalian cells led to proliferation of endoplasmic reticulum (ER) membranes, suggesting that the early steps of peroxisome formation may be directed via the ER. Northern blot analysis revealed that PEX3 was expressed as a predominant 2.3-kb mRNA and a 1.6-kb mRNA in all human tissues tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9657383" 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="Muntau, A. C., Holzinger, A., Mayerhofer, P. U., Gartner, J., Roscher, A. A., Kammerer, S. <strong>The human PEX3 gene encoding a peroxisomal assembly protein: genomic organization, positional mapping, and mutation analysis in candidate phenotypes.</strong> Biochem. Biophys. Res. Commun. 268: 704-710, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10679269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10679269</a>] [<a href="https://doi.org/10.1006/bbrc.2000.2193" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10679269">Muntau et al. (2000)</a> reported the genomic organization of PEX3, sequencing of the putative promoter region, chromosomal localization, and physical mapping. The gene contains 12 exons and spans approximately 40 kb. They assigned the gene to chromosome 6q23-q24 by fluorescence in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10679269" 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="#8" class="mim-tip-reference" title="Sugiura, A., Mattie, S., Prudent, J., McBride, H. M. <strong>Newly born peroxisomes are a hybrid of mitochondrial and ER-derived pre-peroxisomes.</strong> Nature 542: 251-254, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28146471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28146471</a>] [<a href="https://doi.org/10.1038/nature21375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28146471">Sugiura et al. (2017)</a> followed the generation of new peroxisomes within human patient fibroblasts lacking peroxisomes and showed that the essential import receptors Pex3 and Pex14 (<a href="/entry/601791">601791</a>) target mitochondria, where they are selectively released into vesicular pre-peroxisomal structures. Maturation of pre-peroxisomes containing Pex3 and Pex14 requires fusion with endoplasmic reticulum-derived vesicles carrying Pex16 (<a href="/entry/603360">603360</a>), thereby providing full import competence. <a href="#8" class="mim-tip-reference" title="Sugiura, A., Mattie, S., Prudent, J., McBride, H. M. <strong>Newly born peroxisomes are a hybrid of mitochondrial and ER-derived pre-peroxisomes.</strong> Nature 542: 251-254, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28146471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28146471</a>] [<a href="https://doi.org/10.1038/nature21375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28146471">Sugiura et al. (2017)</a> concluded that their findings demonstrated the hybrid nature of newly born peroxisomes, expanding their functional links to mitochondria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28146471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Peroxisome biogenesis disorders, of which several complementation groups have been identified, are subdivided with regard to 2 major dysfunctions: peroxisomal matrix protein import and peroxisomal membrane synthesis. Detectable remnant membrane structures are evident only in the former. <a href="#7" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Zhang, Z., Imamura, A., Ghaedi, K., Fujiki, Y., Kondo, N. <strong>Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures.</strong> Hum. Molec. Genet. 9: 1995-1999, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942428</a>] [<a href="https://doi.org/10.1093/hmg/9.13.1995" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10942428">Shimozawa et al. (2000)</a> stated that molecular defects had been defined in 10 PEX genes, including 8 related to protein import and 2 related to membrane synthesis. <a href="#7" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Zhang, Z., Imamura, A., Ghaedi, K., Fujiki, Y., Kondo, N. <strong>Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures.</strong> Hum. Molec. Genet. 9: 1995-1999, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942428</a>] [<a href="https://doi.org/10.1093/hmg/9.13.1995" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10942428">Shimozawa et al. (2000)</a> determined that the human cDNA encoding peroxin-3 rescued the import of both peroxin-3 and the matrix protein in fibroblasts from a Zellweger syndrome patient of complementation group G (<a href="/entry/614882">614882</a>). The patient was homozygous for a mutation in the PEX3 gene (<a href="#0001">603164.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10942428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Muntau, A. C., Mayerhofer, P. U., Paton, B. C., Kammerer, S., Roscher, A. A. <strong>Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.</strong> Am. J. Hum. Genet. 67: 967-975, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10958759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10958759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10958759[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/303071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10958759">Muntau et al. (2000)</a> studied 2 patients assigned to complementation group G of Zellweger syndrome who had been found to display a cellular phenotype characterized by a lack of even residual peroxisomal membrane structures. They identified homozygous PEX3 mutations, each leading to C-terminal truncation of PEX3, in the 2 patients, both of whom suffered from a severe Zellweger syndrome phenotype; see <a href="#0001">603164.0001</a> and <a href="#0002">603164.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10958759" 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="Ghaedi, K., Honsho, M., Shimozawa, N., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.</strong> Am. J. Hum. Genet. 67: 976-981, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10968777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10968777</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10968777[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/303086" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10968777">Ghaedi et al. (2000)</a> studied a patient with Zellweger syndrome of complementation group G and demonstrated a homozygous inactivating mutation in PEX3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10968777" 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 9-year-old boy with peroxisome biogenesis disorder-10B (PBD10B; <a href="/entry/617370">617370</a>), <a href="#3" class="mim-tip-reference" title="Maxit, C., Denzler, I., Marchione, D., Agosta, G., Koster, J., Wanders, R. J. A., Ferdinandusse, S., Waterham, H. R. <strong>Novel PEX3 gene mutations resulting in a moderate Zellweger spectrum disorder.</strong> JIMD Rep. 34: 71-75, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27557811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27557811</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27557811[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/8904_2016_10" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27557811">Maxit et al. (2017)</a> identified compound heterozygous mutations in the PEX3 gene (R300X, <a href="#0003">603164.0003</a> and G331R, <a href="#0004">603164.0004</a>). Functional studies of the variants were not performed. Patient cells showed a mosaic pattern of catalase-positive particles and peroxisomal membrane structures, consistent with the milder clinical phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27557811" 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="#9" class="mim-tip-reference" title="Takashima, S., Fujita, H., Toyoshi, K., Ohba, A., Hirata, Y., Shimozawa, N., Oh-Hashi, K. <strong>Hypomorphic mutation of PEX3 with peroxisomal mosaicism reveals the oscillating nature of peroxisome biogenesis coupled with differential metabolic activities.</strong> Molec. Genet. Metab. 137: 68-80, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35932552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35932552</a>] [<a href="https://doi.org/10.1016/j.ymgme.2022.07.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35932552">Takashima et al. (2022)</a> generated an HEK293 cell model with a biallelic hypomorphic mutation in the PEX3 gene, a 15-bp deletion resulting in deletion of 5 well-conserved amino acids. The cell line showed peroxisomal mosaicism, and analysis of individual cell subclones demonstrated that each subclone could give rise to peroxisomal mosaicism. From a functional standpoint, cells with no or few peroxisomes had a higher amount of very long chain fatty acids compared to cells with a higher number of peroxisomes. In fibroblasts from a patient with infantile Refsum disease and biallelic PEX3 hypomorphic mutations, <a href="#9" class="mim-tip-reference" title="Takashima, S., Fujita, H., Toyoshi, K., Ohba, A., Hirata, Y., Shimozawa, N., Oh-Hashi, K. <strong>Hypomorphic mutation of PEX3 with peroxisomal mosaicism reveals the oscillating nature of peroxisome biogenesis coupled with differential metabolic activities.</strong> Molec. Genet. Metab. 137: 68-80, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35932552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35932552</a>] [<a href="https://doi.org/10.1016/j.ymgme.2022.07.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35932552">Takashima et al. (2022)</a> also observed changes in peroxisome content. <a href="#9" class="mim-tip-reference" title="Takashima, S., Fujita, H., Toyoshi, K., Ohba, A., Hirata, Y., Shimozawa, N., Oh-Hashi, K. <strong>Hypomorphic mutation of PEX3 with peroxisomal mosaicism reveals the oscillating nature of peroxisome biogenesis coupled with differential metabolic activities.</strong> Molec. Genet. Metab. 137: 68-80, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35932552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35932552</a>] [<a href="https://doi.org/10.1016/j.ymgme.2022.07.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35932552">Takashima et al. (2022)</a> concluded that the number of peroxisomes fluctuates in a cell population with peroxisomal mosaicism and that metabolic function correlates to peroxisome content. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35932552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient (patient 1, PBDG-01) with Zellweger syndrome of complementation group G (PBD10A; <a href="/entry/614882">614882</a>), <a href="#5" class="mim-tip-reference" title="Muntau, A. C., Mayerhofer, P. U., Paton, B. C., Kammerer, S., Roscher, A. A. <strong>Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.</strong> Am. J. Hum. Genet. 67: 967-975, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10958759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10958759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10958759[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/303071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10958759">Muntau et al. (2000)</a> found homozygosity for a 1-bp insertion, a thymine in exon 7, at nucleotide 543 of the coding region. This frameshift mutation was predicted to result in a truncation of the C-terminal 190 amino acids of the protein. <a href="#5" class="mim-tip-reference" title="Muntau, A. C., Mayerhofer, P. U., Paton, B. C., Kammerer, S., Roscher, A. A. <strong>Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.</strong> Am. J. Hum. Genet. 67: 967-975, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10958759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10958759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10958759[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/303071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10958759">Muntau et al. (2000)</a> noted that the patient showed marked muscular hypotonia at birth. Dysmorphic features included hypertelorism, prominent epicanthic folds, and a high, broad forehead with round face. Seizures developed on day 1 but were controlled with treatment. His condition deteriorated rapidly, with death at age 4 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10958759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Zhang, Z., Imamura, A., Ghaedi, K., Fujiki, Y., Kondo, N. <strong>Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures.</strong> Hum. Molec. Genet. 9: 1995-1999, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942428</a>] [<a href="https://doi.org/10.1093/hmg/9.13.1995" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10942428">Shimozawa et al. (2000)</a> studied the same patient (G-01) and described the mutation as a homozygous 1-bp insertion at nucleotide 544 at the first position of codon val182, resulting in a change of codon (182-183) and introduction of a termination in codon 184. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10942428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Poulos, A., Christodoulou, J., Chow, C. W., Goldblatt, J., Paton, B. C., Orii, T., Suzuki, Y., Shimozawa, N. <strong>Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.</strong> J. Pediat. 127: 596-599, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7562283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7562283</a>] [<a href="https://doi.org/10.1016/s0022-3476(95)70121-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7562283">Poulos et al. (1995)</a> originally studied this patient (patient 1) and described clinical, pathologic, and biochemical findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7562283" 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">rs267608193 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267608193;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=rs267608193" 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=rs267608193" 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=RCV000006998 OR RCV000778169" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006998, RCV000778169" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006998...</a>
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<p>In a patient (patient 2, PBDG-02) with Zellweger syndrome of complementation group G (PBD10A; <a href="/entry/614882">614882</a>), <a href="#5" class="mim-tip-reference" title="Muntau, A. C., Mayerhofer, P. U., Paton, B. C., Kammerer, S., Roscher, A. A. <strong>Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.</strong> Am. J. Hum. Genet. 67: 967-975, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10958759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10958759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10958759[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/303071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10958759">Muntau et al. (2000)</a> found a T-to-G transversion at position -8 of the 3-prime acceptor splice site of intron 10 of the PEX3 gene. This mutation led to deletion of exon 11 and a frameshift, with a premature termination after 3 amino acids, predicting a 56-amino acid C-terminal truncation of the protein. The male infant was cyanotic and markedly hypotonic at birth with absent deep tendon reflexes. He had a prominent midface and downslanting palpebral fissures, ocular hypertelorism, small low-set ears, a prominent nose, and a high-arched palate. The patient died at age 19 days. A brother had been similarly affected and died at age 15 days. <a href="#1" class="mim-tip-reference" title="Ghaedi, K., Honsho, M., Shimozawa, N., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.</strong> Am. J. Hum. Genet. 67: 976-981, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10968777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10968777</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10968777[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/303086" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10968777">Ghaedi et al. (2000)</a> demonstrated the same mutation in a study of material from the same patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10958759+10968777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Poulos, A., Christodoulou, J., Chow, C. W., Goldblatt, J., Paton, B. C., Orii, T., Suzuki, Y., Shimozawa, N. <strong>Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.</strong> J. Pediat. 127: 596-599, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7562283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7562283</a>] [<a href="https://doi.org/10.1016/s0022-3476(95)70121-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7562283">Poulos et al. (1995)</a> originally studied this patient (patient 2) and described clinical, pathologic, and biochemical findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7562283" 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> rs201179294 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201179294;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/rs201179294?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=rs201179294" 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=rs201179294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 9-year-old boy with peroxisome biogenesis disorder-10B (PBD10B; <a href="/entry/617370">617370</a>), <a href="#3" class="mim-tip-reference" title="Maxit, C., Denzler, I., Marchione, D., Agosta, G., Koster, J., Wanders, R. J. A., Ferdinandusse, S., Waterham, H. R. <strong>Novel PEX3 gene mutations resulting in a moderate Zellweger spectrum disorder.</strong> JIMD Rep. 34: 71-75, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27557811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27557811</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27557811[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/8904_2016_10" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27557811">Maxit et al. (2017)</a> identified compound heterozygous mutations in the PEX3 gene: a c.898C-T transition (c.898C-T, NM_003630.2), resulting in an arg300-to-ter (R300X) substitution, and a c.991G-A transition, resulting in a gly331-to-arg (G331R; <a href="#0004">603164.0004</a>) substitution at a highly conserved residue. Each unaffected parent was heterozygous for 1 of the mutations. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27557811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000433323 OR RCV001851064" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000433323, RCV001851064" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000433323...</a>
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<p>For discussion of the c.991G-A transition (c.991G-A, NM_003630.2) in the PEX3 gene, resulting in a gly331-to-arg (G331R) substitution, that was found in compound heterozygous state in a patient with peroxisome biogenesis disorder-10B (PBD10B; <a href="/entry/617370">617370</a>) by <a href="#3" class="mim-tip-reference" title="Maxit, C., Denzler, I., Marchione, D., Agosta, G., Koster, J., Wanders, R. J. A., Ferdinandusse, S., Waterham, H. R. <strong>Novel PEX3 gene mutations resulting in a moderate Zellweger spectrum disorder.</strong> JIMD Rep. 34: 71-75, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27557811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27557811</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27557811[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/8904_2016_10" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27557811">Maxit et al. (2017)</a>, see <a href="#0003">603164.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27557811" 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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Am. J. Hum. Genet. 67: 976-981, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10968777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10968777</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10968777[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10968777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/303086" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Kammerer1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Kammerer, S., Holzinger, A., Welsch, U., Roscher, A. A.
|
|
<strong>Cloning and characterization of the gene encoding the human peroxisomal assembly protein Pex3p.</strong>
|
|
FEBS Lett. 429: 53-60, 1998.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9657383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9657383</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9657383" 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/s0014-5793(98)00557-2" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Maxit2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Maxit, C., Denzler, I., Marchione, D., Agosta, G., Koster, J., Wanders, R. J. A., Ferdinandusse, S., Waterham, H. R.
|
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<strong>Novel PEX3 gene mutations resulting in a moderate Zellweger spectrum disorder.</strong>
|
|
JIMD Rep. 34: 71-75, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27557811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27557811</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27557811[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27557811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/8904_2016_10" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Muntau2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Muntau, A. C., Holzinger, A., Mayerhofer, P. U., Gartner, J., Roscher, A. A., Kammerer, S.
|
|
<strong>The human PEX3 gene encoding a peroxisomal assembly protein: genomic organization, positional mapping, and mutation analysis in candidate phenotypes.</strong>
|
|
Biochem. Biophys. Res. Commun. 268: 704-710, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10679269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10679269</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10679269" 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.2000.2193" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Muntau2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Muntau, A. C., Mayerhofer, P. U., Paton, B. C., Kammerer, S., Roscher, A. A.
|
|
<strong>Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.</strong>
|
|
Am. J. Hum. Genet. 67: 967-975, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10958759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10958759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10958759[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10958759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/303071" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Poulos1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Poulos, A., Christodoulou, J., Chow, C. W., Goldblatt, J., Paton, B. C., Orii, T., Suzuki, Y., Shimozawa, N.
|
|
<strong>Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.</strong>
|
|
J. Pediat. 127: 596-599, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7562283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7562283</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7562283" 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/s0022-3476(95)70121-4" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Shimozawa2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shimozawa, N., Suzuki, Y., Zhang, Z., Imamura, A., Ghaedi, K., Fujiki, Y., Kondo, N.
|
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<strong>Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures.</strong>
|
|
Hum. Molec. Genet. 9: 1995-1999, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942428</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10942428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/9.13.1995" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Sugiura2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sugiura, A., Mattie, S., Prudent, J., McBride, H. M.
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<strong>Newly born peroxisomes are a hybrid of mitochondrial and ER-derived pre-peroxisomes.</strong>
|
|
Nature 542: 251-254, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28146471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28146471</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28146471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature21375" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Takashima2022" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Takashima, S., Fujita, H., Toyoshi, K., Ohba, A., Hirata, Y., Shimozawa, N., Oh-Hashi, K.
|
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<strong>Hypomorphic mutation of PEX3 with peroxisomal mosaicism reveals the oscillating nature of peroxisome biogenesis coupled with differential metabolic activities.</strong>
|
|
Molec. Genet. Metab. 137: 68-80, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35932552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35932552</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35932552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2022.07.008" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 12/09/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 09/10/2019<br>Cassandra L. Kniffin - updated : 03/02/2017<br>Anne M. Stumpf - updated : 02/13/2017<br>Victor A. McKusick - updated : 12/4/2000<br>George E. Tiller - updated : 10/26/2000<br>Victor A. McKusick - updated : 10/20/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Rebekah S. Rasooly : 10/20/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/09/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 09/10/2019<br>alopez : 07/20/2017<br>carol : 03/03/2017<br>ckniffin : 03/02/2017<br>alopez : 02/14/2017<br>alopez : 02/13/2017<br>carol : 06/24/2016<br>alopez : 10/25/2012<br>alopez : 10/24/2012<br>tkritzer : 7/20/2004<br>joanna : 3/17/2004<br>alopez : 11/3/2003<br>mcapotos : 12/19/2000<br>mcapotos : 12/14/2000<br>terry : 12/4/2000<br>carol : 11/2/2000<br>mcapotos : 10/26/2000<br>carol : 10/24/2000<br>terry : 10/20/2000<br>psherman : 10/21/1998<br>psherman : 10/20/1998
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603164
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PEROXISOME BIOGENESIS FACTOR 3; PEX3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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PEROXIN 3
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PEX3</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
|
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Cytogenetic location: 6q24.2
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 6:143,450,805-143,490,616 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
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<tr>
|
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<td rowspan="2">
|
|
<span class="mim-font">
|
|
6q24.2
|
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</span>
|
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</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Peroxisome biogenesis disorder 10B
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
617370
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Peroxisome biogenesis disorder 10A (Zellweger)
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
614882
|
|
</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</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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<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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<span class="mim-text-font">
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<p>Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The S. cerevisiae Pex3 protein is a peroxisomal integral membrane protein required for peroxisome biogenesis and integrity. By searching an EST database for sequences similar to the yeast Pichia pastoris Pex3 gene, Kammerer et al. (1998) identified human PEX3 cDNAs. Two of the cDNAs represent alternatively polyadenylated transcripts. The deduced 373-amino acid protein shares 23% and 20% sequence identity with P. pastoris and S. cerevisiae Pex3, respectively. The yeast and human proteins have 2 predicted transmembrane regions in their N-terminal halves. Using immunofluorescence, the authors localized epitope-tagged PEX3 to the peroxisome. Overexpression of PEX3 in mammalian cells led to proliferation of endoplasmic reticulum (ER) membranes, suggesting that the early steps of peroxisome formation may be directed via the ER. Northern blot analysis revealed that PEX3 was expressed as a predominant 2.3-kb mRNA and a 1.6-kb mRNA in all human tissues tested. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Muntau et al. (2000) reported the genomic organization of PEX3, sequencing of the putative promoter region, chromosomal localization, and physical mapping. The gene contains 12 exons and spans approximately 40 kb. They assigned the gene to chromosome 6q23-q24 by fluorescence in situ hybridization. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sugiura et al. (2017) followed the generation of new peroxisomes within human patient fibroblasts lacking peroxisomes and showed that the essential import receptors Pex3 and Pex14 (601791) target mitochondria, where they are selectively released into vesicular pre-peroxisomal structures. Maturation of pre-peroxisomes containing Pex3 and Pex14 requires fusion with endoplasmic reticulum-derived vesicles carrying Pex16 (603360), thereby providing full import competence. Sugiura et al. (2017) concluded that their findings demonstrated the hybrid nature of newly born peroxisomes, expanding their functional links to mitochondria. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Peroxisome biogenesis disorders, of which several complementation groups have been identified, are subdivided with regard to 2 major dysfunctions: peroxisomal matrix protein import and peroxisomal membrane synthesis. Detectable remnant membrane structures are evident only in the former. Shimozawa et al. (2000) stated that molecular defects had been defined in 10 PEX genes, including 8 related to protein import and 2 related to membrane synthesis. Shimozawa et al. (2000) determined that the human cDNA encoding peroxin-3 rescued the import of both peroxin-3 and the matrix protein in fibroblasts from a Zellweger syndrome patient of complementation group G (614882). The patient was homozygous for a mutation in the PEX3 gene (603164.0001). </p><p>Muntau et al. (2000) studied 2 patients assigned to complementation group G of Zellweger syndrome who had been found to display a cellular phenotype characterized by a lack of even residual peroxisomal membrane structures. They identified homozygous PEX3 mutations, each leading to C-terminal truncation of PEX3, in the 2 patients, both of whom suffered from a severe Zellweger syndrome phenotype; see 603164.0001 and 603164.0002. </p><p>Ghaedi et al. (2000) studied a patient with Zellweger syndrome of complementation group G and demonstrated a homozygous inactivating mutation in PEX3. </p><p>In a 9-year-old boy with peroxisome biogenesis disorder-10B (PBD10B; 617370), Maxit et al. (2017) identified compound heterozygous mutations in the PEX3 gene (R300X, 603164.0003 and G331R, 603164.0004). Functional studies of the variants were not performed. Patient cells showed a mosaic pattern of catalase-positive particles and peroxisomal membrane structures, consistent with the milder clinical phenotype. </p><p>Takashima et al. (2022) generated an HEK293 cell model with a biallelic hypomorphic mutation in the PEX3 gene, a 15-bp deletion resulting in deletion of 5 well-conserved amino acids. The cell line showed peroxisomal mosaicism, and analysis of individual cell subclones demonstrated that each subclone could give rise to peroxisomal mosaicism. From a functional standpoint, cells with no or few peroxisomes had a higher amount of very long chain fatty acids compared to cells with a higher number of peroxisomes. In fibroblasts from a patient with infantile Refsum disease and biallelic PEX3 hypomorphic mutations, Takashima et al. (2022) also observed changes in peroxisome content. Takashima et al. (2022) concluded that the number of peroxisomes fluctuates in a cell population with peroxisomal mosaicism and that metabolic function correlates to peroxisome content. </p>
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</span>
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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>ALLELIC VARIANTS</strong>
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</span>
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<strong>4 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 PEROXISOME BIOGENESIS DISORDER 10A (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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PEX3, 1-BP INS, 543T
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<br />
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ClinVar: RCV000006997
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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 (patient 1, PBDG-01) with Zellweger syndrome of complementation group G (PBD10A; 614882), Muntau et al. (2000) found homozygosity for a 1-bp insertion, a thymine in exon 7, at nucleotide 543 of the coding region. This frameshift mutation was predicted to result in a truncation of the C-terminal 190 amino acids of the protein. Muntau et al. (2000) noted that the patient showed marked muscular hypotonia at birth. Dysmorphic features included hypertelorism, prominent epicanthic folds, and a high, broad forehead with round face. Seizures developed on day 1 but were controlled with treatment. His condition deteriorated rapidly, with death at age 4 months. </p><p>Shimozawa et al. (2000) studied the same patient (G-01) and described the mutation as a homozygous 1-bp insertion at nucleotide 544 at the first position of codon val182, resulting in a change of codon (182-183) and introduction of a termination in codon 184. </p><p>Poulos et al. (1995) originally studied this patient (patient 1) and described clinical, pathologic, and biochemical findings. </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 10A (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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PEX3, IVS10AS, T-G, -8
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<br />
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SNP: rs267608193,
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ClinVar: RCV000006998, RCV000778169
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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 (patient 2, PBDG-02) with Zellweger syndrome of complementation group G (PBD10A; 614882), Muntau et al. (2000) found a T-to-G transversion at position -8 of the 3-prime acceptor splice site of intron 10 of the PEX3 gene. This mutation led to deletion of exon 11 and a frameshift, with a premature termination after 3 amino acids, predicting a 56-amino acid C-terminal truncation of the protein. The male infant was cyanotic and markedly hypotonic at birth with absent deep tendon reflexes. He had a prominent midface and downslanting palpebral fissures, ocular hypertelorism, small low-set ears, a prominent nose, and a high-arched palate. The patient died at age 19 days. A brother had been similarly affected and died at age 15 days. Ghaedi et al. (2000) demonstrated the same mutation in a study of material from the same patient. </p><p>Poulos et al. (1995) originally studied this patient (patient 2) and described clinical, pathologic, and biochemical findings. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0003 PEROXISOME BIOGENESIS DISORDER 10B (1 patient)</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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PEX3, ARG300TER
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<br />
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SNP: rs201179294,
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gnomAD: rs201179294,
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ClinVar: RCV000444777
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 9-year-old boy with peroxisome biogenesis disorder-10B (PBD10B; 617370), Maxit et al. (2017) identified compound heterozygous mutations in the PEX3 gene: a c.898C-T transition (c.898C-T, NM_003630.2), resulting in an arg300-to-ter (R300X) substitution, and a c.991G-A transition, resulting in a gly331-to-arg (G331R; 603164.0004) substitution at a highly conserved residue. Each unaffected parent was heterozygous for 1 of the mutations. Functional studies of the variants 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>
|
|
<span class="mim-font">
|
|
<strong>.0004 PEROXISOME BIOGENESIS DISORDER 10B (1 patient)</strong>
|
|
</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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PEX3, GLY331ARG
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<br />
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SNP: rs1057523689,
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gnomAD: rs1057523689,
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ClinVar: RCV000433323, RCV001851064
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the c.991G-A transition (c.991G-A, NM_003630.2) in the PEX3 gene, resulting in a gly331-to-arg (G331R) substitution, that was found in compound heterozygous state in a patient with peroxisome biogenesis disorder-10B (PBD10B; 617370) by Maxit et al. (2017), see 603164.0003. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Ghaedi, K., Honsho, M., Shimozawa, N., Suzuki, Y., Kondo, N., Fujiki, Y.
|
|
<strong>PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.</strong>
|
|
Am. J. Hum. Genet. 67: 976-981, 2000.
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[PubMed: 10968777]
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[Full Text: https://doi.org/10.1086/303086]
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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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Kammerer, S., Holzinger, A., Welsch, U., Roscher, A. A.
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<strong>Cloning and characterization of the gene encoding the human peroxisomal assembly protein Pex3p.</strong>
|
|
FEBS Lett. 429: 53-60, 1998.
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[PubMed: 9657383]
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[Full Text: https://doi.org/10.1016/s0014-5793(98)00557-2]
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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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Maxit, C., Denzler, I., Marchione, D., Agosta, G., Koster, J., Wanders, R. J. A., Ferdinandusse, S., Waterham, H. R.
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<strong>Novel PEX3 gene mutations resulting in a moderate Zellweger spectrum disorder.</strong>
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JIMD Rep. 34: 71-75, 2017.
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[PubMed: 27557811]
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[Full Text: https://doi.org/10.1007/8904_2016_10]
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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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Muntau, A. C., Holzinger, A., Mayerhofer, P. U., Gartner, J., Roscher, A. A., Kammerer, S.
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<strong>The human PEX3 gene encoding a peroxisomal assembly protein: genomic organization, positional mapping, and mutation analysis in candidate phenotypes.</strong>
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Biochem. Biophys. Res. Commun. 268: 704-710, 2000.
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[PubMed: 10679269]
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[Full Text: https://doi.org/10.1006/bbrc.2000.2193]
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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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Muntau, A. C., Mayerhofer, P. U., Paton, B. C., Kammerer, S., Roscher, A. A.
|
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<strong>Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.</strong>
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Am. J. Hum. Genet. 67: 967-975, 2000.
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[PubMed: 10958759]
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[Full Text: https://doi.org/10.1086/303071]
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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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Poulos, A., Christodoulou, J., Chow, C. W., Goldblatt, J., Paton, B. C., Orii, T., Suzuki, Y., Shimozawa, N.
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<strong>Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.</strong>
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J. Pediat. 127: 596-599, 1995.
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[PubMed: 7562283]
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[Full Text: https://doi.org/10.1016/s0022-3476(95)70121-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Shimozawa, N., Suzuki, Y., Zhang, Z., Imamura, A., Ghaedi, K., Fujiki, Y., Kondo, N.
|
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<strong>Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures.</strong>
|
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Hum. Molec. Genet. 9: 1995-1999, 2000.
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[PubMed: 10942428]
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[Full Text: https://doi.org/10.1093/hmg/9.13.1995]
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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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Sugiura, A., Mattie, S., Prudent, J., McBride, H. M.
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<strong>Newly born peroxisomes are a hybrid of mitochondrial and ER-derived pre-peroxisomes.</strong>
|
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Nature 542: 251-254, 2017.
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[PubMed: 28146471]
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[Full Text: https://doi.org/10.1038/nature21375]
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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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Takashima, S., Fujita, H., Toyoshi, K., Ohba, A., Hirata, Y., Shimozawa, N., Oh-Hashi, K.
|
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<strong>Hypomorphic mutation of PEX3 with peroxisomal mosaicism reveals the oscillating nature of peroxisome biogenesis coupled with differential metabolic activities.</strong>
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Molec. Genet. Metab. 137: 68-80, 2022.
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[PubMed: 35932552]
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[Full Text: https://doi.org/10.1016/j.ymgme.2022.07.008]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 12/09/2022<br>Ada Hamosh - updated : 09/10/2019<br>Cassandra L. Kniffin - updated : 03/02/2017<br>Anne M. Stumpf - updated : 02/13/2017<br>Victor A. McKusick - updated : 12/4/2000<br>George E. Tiller - updated : 10/26/2000<br>Victor A. McKusick - updated : 10/20/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Rebekah S. Rasooly : 10/20/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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