3347 lines
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Entry
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- *601789 - PEROXISOME BIOGENESIS FACTOR 13; PEX13
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- OMIM
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<p>
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<span class="h4">*601789</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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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</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="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601789">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<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 id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000162928;t=ENST00000295030" 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=5194" 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=601789" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000162928;t=ENST00000295030" 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_002618" 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_002618" 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=601789" 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=03475&isoform_id=03475_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/PEX13" 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/3252882,3738270,3914319,4505723,6682847,45595571,119620422,119620423,119620424,119620425,119620426,189054833" 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/Q92968" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=5194" 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=ENSG00000162928;t=ENST00000295030" 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=PEX13" 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=PEX13" 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+5194" 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/PEX13" 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:5194" 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/5194" 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=chr2&hgg_gene=ENST00000295030.6&hgg_start=61017720&hgg_end=61051990&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:8855" 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=601789[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=601789[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/ENSG00000162928" 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=PEX13" 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=PEX13" 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=PEX13" 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=PEX13&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/PA33197" 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:8855" 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/FBgn0033812.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:1919379" 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/PEX13#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:1919379" 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/5194/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=5194" 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=WBGene00004198;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-040426-1544" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5194" 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=PEX13&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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601789
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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 13; PEX13
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</span>
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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PEROXIN 13
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PEX13" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PEX13</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/2/279?start=-3&limit=10&highlight=279">2p15</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:61017720-61051990&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'})">2:61,017,720-61,051,990</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614883,614885" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
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</th>
|
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/279?start=-3&limit=10&highlight=279">
|
|
2p15
|
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</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Peroxisome biogenesis disorder 11A (Zellweger)
|
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|
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614883"> 614883 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
Peroxisome biogenesis disorder 11B
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614885"> 614885 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
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</span>
|
|
</td>
|
|
</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/601789" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>The PEX13 gene encodes peroxisome biogenesis factor-13, a peroxisomal membrane protein that acts as an essential docking factor for the import of peroxisomal matrix proteins containing the C-terminal peroxisomal uptake-targeting signal PTS1 (<a href="#6" class="mim-tip-reference" title="Gould, S. J., Kalish, J. E., Morrell, J. C., Bjorkman, J., Urquhart, A. J., Crane, D. I. <strong>Pex13p is an SH3 protein of the peroxisome membrane and a docking factor for the predominantly cytoplasmic PTS1 receptor.</strong> J. Cell Biol. 135: 85-95, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858165</a>] [<a href="https://doi.org/10.1083/jcb.135.1.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8858165">Gould et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8858165" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By studying yeast mutants deficient in import of peroxisomal proteins, <a href="#6" class="mim-tip-reference" title="Gould, S. J., Kalish, J. E., Morrell, J. C., Bjorkman, J., Urquhart, A. J., Crane, D. I. <strong>Pex13p is an SH3 protein of the peroxisome membrane and a docking factor for the predominantly cytoplasmic PTS1 receptor.</strong> J. Cell Biol. 135: 85-95, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858165</a>] [<a href="https://doi.org/10.1083/jcb.135.1.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8858165">Gould et al. (1996)</a> identified a novel integral peroxisomal membrane protein in both yeast and humans that binds the PTS1 receptor via a cytoplasmically oriented SH3 domain. They designated the protein Pex13p (PEX13). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8858165" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Elgersma, Y., Kwast, L., Klein, A., Voorn-Brouwer, T., van den Berg, M., Metzig, B., America, T., Tabak, H. F., Distel, B. <strong>The SH3 domain of Saccharomyces cerevisiae peroxisomal membrane protein Pex13p functions as a docking site for Pex5p, a mobile receptor for the import of PTS1-containing proteins.</strong> J. Cell Biol. 135: 97-109, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858166</a>] [<a href="https://doi.org/10.1083/jcb.135.1.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8858166">Elgersma et al. (1996)</a> identified the same protein in S. cerevisiae. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8858166" 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="#2" class="mim-tip-reference" title="Bjorkman, J., Stetten, G., Moore, C. S., Gould, S. J., Crane, D. I. <strong>Genomic structure of PEX13, a candidate peroxisome biogenesis disorder gene.</strong> Genomics 54: 521-528, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9878256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9878256</a>] [<a href="https://doi.org/10.1006/geno.1998.5520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9878256">Bjorkman et al. (1998)</a> determined that human PEX13 cDNA encodes a deduced 403-residue protein product with a calculated molecular mass of 44.3 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9878256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By EST database searching, <a href="#5" class="mim-tip-reference" title="Fransen, M., Terlecky, S. R., Subramani, S. <strong>Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import.</strong> Proc. Nat. Acad. Sci. 95: 8087-8092, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9653144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9653144</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9653144[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.95.14.8087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9653144">Fransen et al. (1998)</a> identified a second isoform of PEX13 containing an additional 39 proline-rich amino acids at the N terminus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9653144" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Bjorkman, J., Stetten, G., Moore, C. S., Gould, S. J., Crane, D. I. <strong>Genomic structure of PEX13, a candidate peroxisome biogenesis disorder gene.</strong> Genomics 54: 521-528, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9878256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9878256</a>] [<a href="https://doi.org/10.1006/geno.1998.5520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9878256">Bjorkman et al. (1998)</a> reported that the PEX13 gene spans approximately 11 kb and contains 4 exons, 1 more than previously thought. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9878256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization, <a href="#2" class="mim-tip-reference" title="Bjorkman, J., Stetten, G., Moore, C. S., Gould, S. J., Crane, D. I. <strong>Genomic structure of PEX13, a candidate peroxisome biogenesis disorder gene.</strong> Genomics 54: 521-528, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9878256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9878256</a>] [<a href="https://doi.org/10.1006/geno.1998.5520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9878256">Bjorkman et al. (1998)</a> mapped the PEX13 gene to chromosome 2p15. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9878256" 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="#6" class="mim-tip-reference" title="Gould, S. J., Kalish, J. E., Morrell, J. C., Bjorkman, J., Urquhart, A. J., Crane, D. I. <strong>Pex13p is an SH3 protein of the peroxisome membrane and a docking factor for the predominantly cytoplasmic PTS1 receptor.</strong> J. Cell Biol. 135: 85-95, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858165</a>] [<a href="https://doi.org/10.1083/jcb.135.1.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8858165">Gould et al. (1996)</a> concluded that PEX13 functions as a docking factor for the predominantly cytoplasmic PTS1 receptor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8858165" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Elgersma, Y., Kwast, L., Klein, A., Voorn-Brouwer, T., van den Berg, M., Metzig, B., America, T., Tabak, H. F., Distel, B. <strong>The SH3 domain of Saccharomyces cerevisiae peroxisomal membrane protein Pex13p functions as a docking site for Pex5p, a mobile receptor for the import of PTS1-containing proteins.</strong> J. Cell Biol. 135: 97-109, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858166</a>] [<a href="https://doi.org/10.1083/jcb.135.1.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8858166">Elgersma et al. (1996)</a> showed that a point mutation in the C-terminal SH3 domain of the Pex13p protein inactivated the protein but did not affect its membrane targeting. A 2-hybrid screen with the SH3 domain of Pex13p identified Pex5p (<a href="/entry/600414">600414</a>), a receptor for proteins with a PTS1 signal as its ligands. Pex13p SH3 interacted specifically with Pex5p in vitro. They found that Pex5p was present mainly in the cytosol and only a small fraction was associated with peroxisomes. Therefore, <a href="#3" class="mim-tip-reference" title="Elgersma, Y., Kwast, L., Klein, A., Voorn-Brouwer, T., van den Berg, M., Metzig, B., America, T., Tabak, H. F., Distel, B. <strong>The SH3 domain of Saccharomyces cerevisiae peroxisomal membrane protein Pex13p functions as a docking site for Pex5p, a mobile receptor for the import of PTS1-containing proteins.</strong> J. Cell Biol. 135: 97-109, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858166</a>] [<a href="https://doi.org/10.1083/jcb.135.1.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8858166">Elgersma et al. (1996)</a> proposed that Pex13p is a component of the peroxisomal protein import machinery onto which the mobile pex5p receptor docks for the delivery of the selected PTS1 protein. <a href="#4" class="mim-tip-reference" title="Erdmann, R., Blobel, G. <strong>Identification of Pex13p, a peroxisomal membrane receptor for the PTS1 recognition factor.</strong> J. Cell Biol. 135: 111-121, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858167</a>] [<a href="https://doi.org/10.1083/jcb.135.1.111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8858167">Erdmann and Blobel (1996)</a> showed that cells deficient in Pex13p are unable to import peroxisomal matrix proteins containing PTS1 and, surprisingly, also those containing PTS2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8858167+8858166" 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="#10" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Zhang, Z., Imamura, A., Toyama, R., Mukai, S., Fujiki, Y., Tsukamoto, T., Osumi, T., Orii, T., Wanders, R. J. A., Kondo, N. <strong>Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.</strong> Hum. Molec. Genet. 8: 1077-1083, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10332040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10332040</a>] [<a href="https://doi.org/10.1093/hmg/8.6.1077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10332040">Shimozawa et al. (1999)</a> reported that the complete human cDNA encoding PEX13 rescued peroxisomal matrix protein import and its assembly in fibroblasts from peroxisome biogenesis disorder patients of complementation group H. They detected mutations in the human PEX13 cDNA in 2 patients of group H (see, e.g., <a href="#0001">601789.0001</a> and <a href="#0002">601789.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10332040" 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="#8" class="mim-tip-reference" title="Liu, Y., Bjorkman, J., Urquhart, A., Wanders, R. J. A., Crane, D. I., Gould, S. J. <strong>PEX13 is mutated in complementation group 13 of the peroxisome- biogenesis disorders.</strong> Am. J. Hum. Genet. 65: 621-634, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10441568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10441568</a>] [<a href="https://doi.org/10.1086/302534" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10441568">Liu et al. (1999)</a> characterized the sole representative of complementation group 13 of the PBDs to that time, a patient with neonatal adrenoleukodystrophy (NALD; see <a href="/entry/614885">614885</a>). The fibroblasts of this patient (designated PBD222) displayed defects in the import of multiple peroxisomal matrix proteins. However, residual matrix protein import could be detected in the cells from the patient, consistent with the relatively mild phenotype. PEX13 encodes a peroxisomal membrane protein with a cytoplasmically exposed SH3 domain, and <a href="#8" class="mim-tip-reference" title="Liu, Y., Bjorkman, J., Urquhart, A., Wanders, R. J. A., Crane, D. I., Gould, S. J. <strong>PEX13 is mutated in complementation group 13 of the peroxisome- biogenesis disorders.</strong> Am. J. Hum. Genet. 65: 621-634, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10441568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10441568</a>] [<a href="https://doi.org/10.1086/302534" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10441568">Liu et al. (1999)</a> found that expression of human PEX13 restored peroxisomal matrix protein import in cells from patient PBD222. Furthermore, these cells were found to be homozygous for an I326T mutation (<a href="#0002">601789.0002</a>), which <a href="#10" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Zhang, Z., Imamura, A., Toyama, R., Mukai, S., Fujiki, Y., Tsukamoto, T., Osumi, T., Orii, T., Wanders, R. J. A., Kondo, N. <strong>Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.</strong> Hum. Molec. Genet. 8: 1077-1083, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10332040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10332040</a>] [<a href="https://doi.org/10.1093/hmg/8.6.1077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10332040">Shimozawa et al. (1999)</a> had independently and simultaneously demonstrated. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10332040+10441568" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated Saudi patients with Zellweger syndrome (PBD11A; <a href="/entry/614883">614883</a>), <a href="#1" class="mim-tip-reference" title="Al-Dirbashi, O. Y., Shaheen, R., Al-Sayed, M., Al-Dosari, M., Makhseed, N., Abu Safieh, L., Santa, T., Meyer, B. F., Shimozawa, N., Alkuraya, F. S. <strong>Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.</strong> Am. J. Med. Genet. 149A: 1219-1223, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19449432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19449432</a>] [<a href="https://doi.org/10.1002/ajmg.a.32874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19449432">Al-Dirbashi et al. (2009)</a> identified different homozygous deletions involving the PEX13 gene (<a href="#0003">601789.0003</a>, <a href="#0004">601789.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19449432" 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 Turkish girl with a peroxisome biogenesis disorder who died at 31 months of age, <a href="#7" class="mim-tip-reference" title="Krause, C., Rosewich, H., Thanos, M., Gartner, J. <strong>Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.</strong> Hum. Mutat. 27: 1157, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17041890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17041890</a>] [<a href="https://doi.org/10.1002/humu.9462" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17041890">Krause et al. (2006)</a> identified homozygosity for a T-to-G transversion (c.937T-G) resulting in a substitution of glycine for tryptophan at position 313 (<a href="#0005">601789.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17041890" 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="#9" class="mim-tip-reference" title="Maxwell, M., Bjorkman, J., Nguyen, T., Sharp, P., Finnie, J., Paterson, C., Tonks, I., Paton, B. C., Kay, G. F., Crane, D. I. <strong>Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype.</strong> Molec. Cell. Biol. 23: 5947-5957, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12897163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12897163</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12897163[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.23.16.5947-5957.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12897163">Maxwell et al. (2003)</a> found that Pex13 null mouse pups exhibited many of the clinical features of Zellweger syndrome, including intrauterine growth retardation, severe hypotonia, failure to feed, and neonatal death. These mice lacked morphologically intact peroxisomes and showed deficient import of matrix proteins containing either type-1 or type-2 peroxisome targeting signals. Biochemical analysis of tissue and cultured skin fibroblasts from these animals indicated severe impairment of peroxisomal fatty acid oxidation and plasmalogen synthesis. The brains of these mice showed disordered lamination in the cerebral cortex, consistent with a neuronal migration defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12897163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with a severe Zellweger syndrome phenotype (PBD11A; <a href="/entry/614883">614883</a>), <a href="#10" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Zhang, Z., Imamura, A., Toyama, R., Mukai, S., Fujiki, Y., Tsukamoto, T., Osumi, T., Orii, T., Wanders, R. J. A., Kondo, N. <strong>Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.</strong> Hum. Molec. Genet. 8: 1077-1083, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10332040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10332040</a>] [<a href="https://doi.org/10.1093/hmg/8.6.1077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10332040">Shimozawa et al. (1999)</a> found homozygosity for a nonsense mutation, trp234-to-ter (W234X), which resulted in the loss of not only the SH3 domain but also the putative transmembrane domain of the PEX13 protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10332040" 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> rs61752115 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752115;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/rs61752115?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=rs61752115" 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=rs61752115" 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=RCV000008143 OR RCV001851730 OR RCV002269257 OR RCV004782013" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008143, RCV001851730, RCV002269257, RCV004782013" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008143...</a>
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<p>In the patient originally described by <a href="#11" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Zhang, Z., Imamura, A., Tsukamoto, T., Osumi, T., Tateishi, K., Okumoto, K., Fujiki, Y., Orii, T., Barth, P. G., Wanders, R. J. A., Kondo, N. <strong>Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13.</strong> Biochem. Biophys. Res. Commun. 243: 368-371, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9480815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9480815</a>] [<a href="https://doi.org/10.1006/bbrc.1997.8067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9480815">Shimozawa et al. (1998)</a> with neonatal adrenoleukodystrophy (NALD; see PBD11B, <a href="/entry/614885">614885</a>), whose fibroblasts showed the temperature-sensitive phenotype, <a href="#10" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Zhang, Z., Imamura, A., Toyama, R., Mukai, S., Fujiki, Y., Tsukamoto, T., Osumi, T., Orii, T., Wanders, R. J. A., Kondo, N. <strong>Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.</strong> Hum. Molec. Genet. 8: 1077-1083, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10332040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10332040</a>] [<a href="https://doi.org/10.1093/hmg/8.6.1077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10332040">Shimozawa et al. (1999)</a> found homozygosity for a missense mutation, ile326 to thr (I326T), in the SH3 domain of the PEX13 protein. Expression studies of this mutant PEX13 cDNA in a PEX13-defective CHO mutant showed I326T to be a temperature-sensitive mutation and thus suggested that the PEX13 protein with the I326T mutation in the SH3 domain is stable at 30 degrees C but is somewhat unstable at 37 degrees C. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9480815+10332040" 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="#8" class="mim-tip-reference" title="Liu, Y., Bjorkman, J., Urquhart, A., Wanders, R. J. A., Crane, D. I., Gould, S. J. <strong>PEX13 is mutated in complementation group 13 of the peroxisome- biogenesis disorders.</strong> Am. J. Hum. Genet. 65: 621-634, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10441568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10441568</a>] [<a href="https://doi.org/10.1086/302534" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10441568">Liu et al. (1999)</a> independently identified homozygosity for the I326T mutation in the cells of patient PBD222, originally described by <a href="#11" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Zhang, Z., Imamura, A., Tsukamoto, T., Osumi, T., Tateishi, K., Okumoto, K., Fujiki, Y., Orii, T., Barth, P. G., Wanders, R. J. A., Kondo, N. <strong>Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13.</strong> Biochem. Biophys. Res. Commun. 243: 368-371, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9480815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9480815</a>] [<a href="https://doi.org/10.1006/bbrc.1997.8067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9480815">Shimozawa et al. (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9480815+10441568" 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 Saudi boy, born of consanguineous parents, with Zellweger syndrome (PBD11A; <a href="/entry/614883">614883</a>), <a href="#1" class="mim-tip-reference" title="Al-Dirbashi, O. Y., Shaheen, R., Al-Sayed, M., Al-Dosari, M., Makhseed, N., Abu Safieh, L., Santa, T., Meyer, B. F., Shimozawa, N., Alkuraya, F. S. <strong>Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.</strong> Am. J. Med. Genet. 149A: 1219-1223, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19449432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19449432</a>] [<a href="https://doi.org/10.1002/ajmg.a.32874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19449432">Al-Dirbashi et al. (2009)</a> identified a homozygous 147-kb deletion that included the PEX13 gene in addition to 70-kb upstream and 45.7-kb downstream regions, predicted to disrupt the hypothetical genes FLJ32312 and KIAA1841. Both deletion breakpoints occurred within Alu repeats. The patient was admitted to the neonatal intensive care unit after birth with severe hypotonia. He had a large anterior fontanel and high forehead. Brain MRI showed polymicrogyria, lissencephaly, and poor myelination, and EEG showed cortical dysfunction and seizure activity. He died at 6 weeks of age of cardiopulmonary arrest. Fibroblast peroxisomes showed a classic 'ghost' appearance due to abnormal protein import, and complementation studies indicated complementation group H (group 13). The deletion was predicted to result in complete loss of PEX13 function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19449432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2104803129 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2104803129;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=rs2104803129" 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=rs2104803129" 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=RCV001782601 OR RCV002293256" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001782601, RCV002293256" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001782601...</a>
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<p>In a Saudi boy, born of consanguineous parents, with Zellweger syndrome (PBD11A; <a href="/entry/614883">614883</a>), <a href="#1" class="mim-tip-reference" title="Al-Dirbashi, O. Y., Shaheen, R., Al-Sayed, M., Al-Dosari, M., Makhseed, N., Abu Safieh, L., Santa, T., Meyer, B. F., Shimozawa, N., Alkuraya, F. S. <strong>Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.</strong> Am. J. Med. Genet. 149A: 1219-1223, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19449432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19449432</a>] [<a href="https://doi.org/10.1002/ajmg.a.32874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19449432">Al-Dirbashi et al. (2009)</a> identified a homozygous 14-bp deletion in exon 2 of the PEX13 gene, resulting in a frameshift and premature termination. The patient was admitted to the neonatal intensive care unit shortly after birth because of severe hypotonia, where he showed recurrent apnea, seizures, and elevated liver enzymes. Renal ultrasound showed multiple cysts. He had dysmorphic facies with anteverted nostrils, a depressed nasal bridge, and a large, triangular face. At age 6 months, he showed severe failure to thrive, progressive hepatic dysfunction, and global developmental delay. Fibroblast peroxisomes showed a classic 'ghost' appearance due to abnormal protein import, and complementation studies indicated complementation group H (group 13). The deletion was predicted to result in complete loss of PEX13 function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19449432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 PEROXISOME BIOGENESIS DISORDER 11B</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs61752113 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752113;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=rs61752113" 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=rs61752113" 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=RCV000416325" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000416325" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000416325</a>
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<p>In a Turkish patient with a peroxisome biogenesis disorder (PBD11B; <a href="/entry/614885">614885</a>) who died at 31 months of age, <a href="#7" class="mim-tip-reference" title="Krause, C., Rosewich, H., Thanos, M., Gartner, J. <strong>Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.</strong> Hum. Mutat. 27: 1157, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17041890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17041890</a>] [<a href="https://doi.org/10.1002/humu.9462" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17041890">Krause et al. (2006)</a> identified a homozygous T-to-G transversion at position 937 of the PEX13 cDNA (c.937T-G, NM_002618.2), resulting in a tryptophan-to-glycine substitution at codon 313. The girl exhibited progressive hypotonia and cataracts, but had no dysmorphic features generally observed in classic ZWS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17041890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Al-Dirbashi, O. Y., Shaheen, R., Al-Sayed, M., Al-Dosari, M., Makhseed, N., Abu Safieh, L., Santa, T., Meyer, B. F., Shimozawa, N., Alkuraya, F. S.
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<strong>Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.</strong>
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Am. J. Med. Genet. 149A: 1219-1223, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19449432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19449432</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19449432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32874" target="_blank">Full Text</a>]
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Bjorkman, J., Stetten, G., Moore, C. S., Gould, S. J., Crane, D. I.
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<strong>Genomic structure of PEX13, a candidate peroxisome biogenesis disorder gene.</strong>
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Genomics 54: 521-528, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9878256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9878256</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9878256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1998.5520" target="_blank">Full Text</a>]
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Elgersma, Y., Kwast, L., Klein, A., Voorn-Brouwer, T., van den Berg, M., Metzig, B., America, T., Tabak, H. F., Distel, B.
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<strong>The SH3 domain of Saccharomyces cerevisiae peroxisomal membrane protein Pex13p functions as a docking site for Pex5p, a mobile receptor for the import of PTS1-containing proteins.</strong>
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J. Cell Biol. 135: 97-109, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8858166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Erdmann, R., Blobel, G.
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<strong>Identification of Pex13p, a peroxisomal membrane receptor for the PTS1 recognition factor.</strong>
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J. Cell Biol. 135: 111-121, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858167</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8858167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fransen, M., Terlecky, S. R., Subramani, S.
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<strong>Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import.</strong>
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Proc. Nat. Acad. Sci. 95: 8087-8092, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9653144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9653144</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9653144[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9653144" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.95.14.8087" target="_blank">Full Text</a>]
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Gould, S. J., Kalish, J. E., Morrell, J. C., Bjorkman, J., Urquhart, A. J., Crane, D. I.
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<strong>Pex13p is an SH3 protein of the peroxisome membrane and a docking factor for the predominantly cytoplasmic PTS1 receptor.</strong>
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J. Cell Biol. 135: 85-95, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858165</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8858165" 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/10.1083/jcb.135.1.85" target="_blank">Full Text</a>]
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<a id="Krause2006" class="mim-anchor"></a>
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Krause, C., Rosewich, H., Thanos, M., Gartner, J.
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<strong>Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.</strong>
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Hum. Mutat. 27: 1157, 2006. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17041890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17041890</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17041890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.9462" target="_blank">Full Text</a>]
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<a id="Liu1999" class="mim-anchor"></a>
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Liu, Y., Bjorkman, J., Urquhart, A., Wanders, R. J. A., Crane, D. I., Gould, S. J.
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<strong>PEX13 is mutated in complementation group 13 of the peroxisome- biogenesis disorders.</strong>
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Am. J. Hum. Genet. 65: 621-634, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10441568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10441568</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10441568" 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/10.1086/302534" target="_blank">Full Text</a>]
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Maxwell, M., Bjorkman, J., Nguyen, T., Sharp, P., Finnie, J., Paterson, C., Tonks, I., Paton, B. C., Kay, G. F., Crane, D. I.
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<strong>Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype.</strong>
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Molec. Cell. Biol. 23: 5947-5957, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12897163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12897163</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12897163[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=12897163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/MCB.23.16.5947-5957.2003" 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="10" class="mim-anchor"></a>
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<a id="Shimozawa1999" 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., Toyama, R., Mukai, S., Fujiki, Y., Tsukamoto, T., Osumi, T., Orii, T., Wanders, R. J. A., Kondo, N.
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<strong>Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.</strong>
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Hum. Molec. Genet. 8: 1077-1083, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10332040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10332040</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10332040" 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/8.6.1077" 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="11" class="mim-anchor"></a>
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<a id="Shimozawa1998" 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., Tsukamoto, T., Osumi, T., Tateishi, K., Okumoto, K., Fujiki, Y., Orii, T., Barth, P. G., Wanders, R. J. A., Kondo, N.
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<strong>Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13.</strong>
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Biochem. Biophys. Res. Commun. 243: 368-371, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9480815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9480815</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9480815" 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.1997.8067" target="_blank">Full Text</a>]
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</p>
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</ol>
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Joanna S. Amberger - updated : 01/25/2017
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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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Cassandra L. Kniffin - updated : 4/13/2011<br>Patricia A. Hartz - updated : 9/11/2003<br>Paul J. Converse - updated : 4/11/2002<br>Victor A. McKusick - updated : 9/20/1999<br>Victor A. McKusick - updated : 6/25/1999<br>Victor A. McKusick - updated : 6/1/1999<br>David Valle - reviewed : 6/23/1997
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 5/5/1997
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</span>
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</div>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/13/2018
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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 : 01/25/2017<br>joanna : 01/25/2017<br>alopez : 01/25/2017<br>carol : 09/16/2013<br>alopez : 10/25/2012<br>alopez : 10/24/2012<br>carol : 4/14/2011<br>ckniffin : 4/13/2011<br>terry : 2/2/2005<br>tkritzer : 7/20/2004<br>joanna : 3/17/2004<br>alopez : 11/3/2003<br>mgross : 9/11/2003<br>mgross : 4/11/2002<br>alopez : 11/15/1999<br>jlewis : 9/29/1999<br>terry : 9/20/1999<br>carol : 8/26/1999<br>joanna : 8/25/1999<br>carol : 7/9/1999<br>jlewis : 7/7/1999<br>terry : 6/25/1999<br>carol : 6/2/1999<br>terry : 6/1/1999<br>carol : 3/21/1998<br>mark : 6/24/1997<br>mark : 6/23/1997<br>mark : 5/5/1997
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</span>
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</div>
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<div class="container visible-print-block">
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<span class="mim-font">
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<strong>*</strong> 601789
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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PEROXISOME BIOGENESIS FACTOR 13; PEX13
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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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<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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<h4>
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<span class="mim-font">
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PEROXIN 13
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</span>
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</h4>
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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: PEX13</em></strong>
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<strong>
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<em>
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Cytogenetic location: 2p15
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:61,017,720-61,051,990 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<th>
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Location
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Phenotype
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</th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<td rowspan="2">
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<span class="mim-font">
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2p15
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<td>
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<span class="mim-font">
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Peroxisome biogenesis disorder 11A (Zellweger)
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</span>
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</td>
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<td>
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<span class="mim-font">
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614883
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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Peroxisome biogenesis disorder 11B
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<span class="mim-font">
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614885
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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<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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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</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>The PEX13 gene encodes peroxisome biogenesis factor-13, a peroxisomal membrane protein that acts as an essential docking factor for the import of peroxisomal matrix proteins containing the C-terminal peroxisomal uptake-targeting signal PTS1 (Gould et al., 1996). </p>
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<div>
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<br />
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</div>
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<h4>
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<span class="mim-font">
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<strong>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>By studying yeast mutants deficient in import of peroxisomal proteins, Gould et al. (1996) identified a novel integral peroxisomal membrane protein in both yeast and humans that binds the PTS1 receptor via a cytoplasmically oriented SH3 domain. They designated the protein Pex13p (PEX13). </p><p>Elgersma et al. (1996) identified the same protein in S. cerevisiae. </p><p>Bjorkman et al. (1998) determined that human PEX13 cDNA encodes a deduced 403-residue protein product with a calculated molecular mass of 44.3 kD. </p><p>By EST database searching, Fransen et al. (1998) identified a second isoform of PEX13 containing an additional 39 proline-rich amino acids at the N terminus. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bjorkman et al. (1998) reported that the PEX13 gene spans approximately 11 kb and contains 4 exons, 1 more than previously thought. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By fluorescence in situ hybridization, Bjorkman et al. (1998) mapped the PEX13 gene to chromosome 2p15. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gould et al. (1996) concluded that PEX13 functions as a docking factor for the predominantly cytoplasmic PTS1 receptor. </p><p>Elgersma et al. (1996) showed that a point mutation in the C-terminal SH3 domain of the Pex13p protein inactivated the protein but did not affect its membrane targeting. A 2-hybrid screen with the SH3 domain of Pex13p identified Pex5p (600414), a receptor for proteins with a PTS1 signal as its ligands. Pex13p SH3 interacted specifically with Pex5p in vitro. They found that Pex5p was present mainly in the cytosol and only a small fraction was associated with peroxisomes. Therefore, Elgersma et al. (1996) proposed that Pex13p is a component of the peroxisomal protein import machinery onto which the mobile pex5p receptor docks for the delivery of the selected PTS1 protein. Erdmann and Blobel (1996) showed that cells deficient in Pex13p are unable to import peroxisomal matrix proteins containing PTS1 and, surprisingly, also those containing PTS2. </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>Shimozawa et al. (1999) reported that the complete human cDNA encoding PEX13 rescued peroxisomal matrix protein import and its assembly in fibroblasts from peroxisome biogenesis disorder patients of complementation group H. They detected mutations in the human PEX13 cDNA in 2 patients of group H (see, e.g., 601789.0001 and 601789.0002). </p><p>Liu et al. (1999) characterized the sole representative of complementation group 13 of the PBDs to that time, a patient with neonatal adrenoleukodystrophy (NALD; see 614885). The fibroblasts of this patient (designated PBD222) displayed defects in the import of multiple peroxisomal matrix proteins. However, residual matrix protein import could be detected in the cells from the patient, consistent with the relatively mild phenotype. PEX13 encodes a peroxisomal membrane protein with a cytoplasmically exposed SH3 domain, and Liu et al. (1999) found that expression of human PEX13 restored peroxisomal matrix protein import in cells from patient PBD222. Furthermore, these cells were found to be homozygous for an I326T mutation (601789.0002), which Shimozawa et al. (1999) had independently and simultaneously demonstrated. </p><p>In 2 unrelated Saudi patients with Zellweger syndrome (PBD11A; 614883), Al-Dirbashi et al. (2009) identified different homozygous deletions involving the PEX13 gene (601789.0003, 601789.0004). </p><p>In a Turkish girl with a peroxisome biogenesis disorder who died at 31 months of age, Krause et al. (2006) identified homozygosity for a T-to-G transversion (c.937T-G) resulting in a substitution of glycine for tryptophan at position 313 (601789.0005). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Maxwell et al. (2003) found that Pex13 null mouse pups exhibited many of the clinical features of Zellweger syndrome, including intrauterine growth retardation, severe hypotonia, failure to feed, and neonatal death. These mice lacked morphologically intact peroxisomes and showed deficient import of matrix proteins containing either type-1 or type-2 peroxisome targeting signals. Biochemical analysis of tissue and cultured skin fibroblasts from these animals indicated severe impairment of peroxisomal fatty acid oxidation and plasmalogen synthesis. The brains of these mice showed disordered lamination in the cerebral cortex, consistent with a neuronal migration defect. </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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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 Selected Examples):</strong>
|
|
</span>
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<p />
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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 11A (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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PEX13, TRP234TER
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<br />
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SNP: rs104893661,
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ClinVar: RCV000008142
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with a severe Zellweger syndrome phenotype (PBD11A; 614883), Shimozawa et al. (1999) found homozygosity for a nonsense mutation, trp234-to-ter (W234X), which resulted in the loss of not only the SH3 domain but also the putative transmembrane domain of the PEX13 protein. </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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<strong>.0002 PEROXISOME BIOGENESIS DISORDER 11B</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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PEX13, ILE326THR
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<br />
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SNP: rs61752115,
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gnomAD: rs61752115,
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ClinVar: RCV000008143, RCV001851730, RCV002269257, RCV004782013
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</span>
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</div>
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<span class="mim-text-font">
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<p>In the patient originally described by Shimozawa et al. (1998) with neonatal adrenoleukodystrophy (NALD; see PBD11B, 614885), whose fibroblasts showed the temperature-sensitive phenotype, Shimozawa et al. (1999) found homozygosity for a missense mutation, ile326 to thr (I326T), in the SH3 domain of the PEX13 protein. Expression studies of this mutant PEX13 cDNA in a PEX13-defective CHO mutant showed I326T to be a temperature-sensitive mutation and thus suggested that the PEX13 protein with the I326T mutation in the SH3 domain is stable at 30 degrees C but is somewhat unstable at 37 degrees C. </p><p>Liu et al. (1999) independently identified homozygosity for the I326T mutation in the cells of patient PBD222, originally described by Shimozawa et al. (1998). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 PEROXISOME BIOGENESIS DISORDER 11A (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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PEX13, 147-KB DEL
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<br />
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ClinVar: RCV000023150
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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 Saudi boy, born of consanguineous parents, with Zellweger syndrome (PBD11A; 614883), Al-Dirbashi et al. (2009) identified a homozygous 147-kb deletion that included the PEX13 gene in addition to 70-kb upstream and 45.7-kb downstream regions, predicted to disrupt the hypothetical genes FLJ32312 and KIAA1841. Both deletion breakpoints occurred within Alu repeats. The patient was admitted to the neonatal intensive care unit after birth with severe hypotonia. He had a large anterior fontanel and high forehead. Brain MRI showed polymicrogyria, lissencephaly, and poor myelination, and EEG showed cortical dysfunction and seizure activity. He died at 6 weeks of age of cardiopulmonary arrest. Fibroblast peroxisomes showed a classic 'ghost' appearance due to abnormal protein import, and complementation studies indicated complementation group H (group 13). The deletion was predicted to result in complete loss of PEX13 function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 PEROXISOME BIOGENESIS DISORDER 11A (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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PEX13, 14-BP DEL, EXON 2
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<br />
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SNP: rs2104803129,
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ClinVar: RCV001782601, RCV002293256
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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 Saudi boy, born of consanguineous parents, with Zellweger syndrome (PBD11A; 614883), Al-Dirbashi et al. (2009) identified a homozygous 14-bp deletion in exon 2 of the PEX13 gene, resulting in a frameshift and premature termination. The patient was admitted to the neonatal intensive care unit shortly after birth because of severe hypotonia, where he showed recurrent apnea, seizures, and elevated liver enzymes. Renal ultrasound showed multiple cysts. He had dysmorphic facies with anteverted nostrils, a depressed nasal bridge, and a large, triangular face. At age 6 months, he showed severe failure to thrive, progressive hepatic dysfunction, and global developmental delay. Fibroblast peroxisomes showed a classic 'ghost' appearance due to abnormal protein import, and complementation studies indicated complementation group H (group 13). The deletion was predicted to result in complete loss of PEX13 function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 PEROXISOME BIOGENESIS DISORDER 11B</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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PEX13, TRP313GLY
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<br />
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SNP: rs61752113,
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ClinVar: RCV000416325
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Turkish patient with a peroxisome biogenesis disorder (PBD11B; 614885) who died at 31 months of age, Krause et al. (2006) identified a homozygous T-to-G transversion at position 937 of the PEX13 cDNA (c.937T-G, NM_002618.2), resulting in a tryptophan-to-glycine substitution at codon 313. The girl exhibited progressive hypotonia and cataracts, but had no dysmorphic features generally observed in classic ZWS. </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>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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Al-Dirbashi, O. Y., Shaheen, R., Al-Sayed, M., Al-Dosari, M., Makhseed, N., Abu Safieh, L., Santa, T., Meyer, B. F., Shimozawa, N., Alkuraya, F. S.
|
|
<strong>Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.</strong>
|
|
Am. J. Med. Genet. 149A: 1219-1223, 2009.
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[PubMed: 19449432]
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[Full Text: https://doi.org/10.1002/ajmg.a.32874]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bjorkman, J., Stetten, G., Moore, C. S., Gould, S. J., Crane, D. I.
|
|
<strong>Genomic structure of PEX13, a candidate peroxisome biogenesis disorder gene.</strong>
|
|
Genomics 54: 521-528, 1998.
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[PubMed: 9878256]
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[Full Text: https://doi.org/10.1006/geno.1998.5520]
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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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Elgersma, Y., Kwast, L., Klein, A., Voorn-Brouwer, T., van den Berg, M., Metzig, B., America, T., Tabak, H. F., Distel, B.
|
|
<strong>The SH3 domain of Saccharomyces cerevisiae peroxisomal membrane protein Pex13p functions as a docking site for Pex5p, a mobile receptor for the import of PTS1-containing proteins.</strong>
|
|
J. Cell Biol. 135: 97-109, 1996.
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[PubMed: 8858166]
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[Full Text: https://doi.org/10.1083/jcb.135.1.97]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Erdmann, R., Blobel, G.
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|
<strong>Identification of Pex13p, a peroxisomal membrane receptor for the PTS1 recognition factor.</strong>
|
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J. Cell Biol. 135: 111-121, 1996.
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[PubMed: 8858167]
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[Full Text: https://doi.org/10.1083/jcb.135.1.111]
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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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Fransen, M., Terlecky, S. R., Subramani, S.
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<strong>Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import.</strong>
|
|
Proc. Nat. Acad. Sci. 95: 8087-8092, 1998.
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[PubMed: 9653144]
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[Full Text: https://doi.org/10.1073/pnas.95.14.8087]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Gould, S. J., Kalish, J. E., Morrell, J. C., Bjorkman, J., Urquhart, A. J., Crane, D. I.
|
|
<strong>Pex13p is an SH3 protein of the peroxisome membrane and a docking factor for the predominantly cytoplasmic PTS1 receptor.</strong>
|
|
J. Cell Biol. 135: 85-95, 1996.
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[PubMed: 8858165]
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[Full Text: https://doi.org/10.1083/jcb.135.1.85]
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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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Krause, C., Rosewich, H., Thanos, M., Gartner, J.
|
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<strong>Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.</strong>
|
|
Hum. Mutat. 27: 1157, 2006. Note: Electronic Article.
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[PubMed: 17041890]
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[Full Text: https://doi.org/10.1002/humu.9462]
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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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Liu, Y., Bjorkman, J., Urquhart, A., Wanders, R. J. A., Crane, D. I., Gould, S. J.
|
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<strong>PEX13 is mutated in complementation group 13 of the peroxisome- biogenesis disorders.</strong>
|
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Am. J. Hum. Genet. 65: 621-634, 1999.
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[PubMed: 10441568]
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[Full Text: https://doi.org/10.1086/302534]
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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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Maxwell, M., Bjorkman, J., Nguyen, T., Sharp, P., Finnie, J., Paterson, C., Tonks, I., Paton, B. C., Kay, G. F., Crane, D. I.
|
|
<strong>Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype.</strong>
|
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Molec. Cell. Biol. 23: 5947-5957, 2003.
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[PubMed: 12897163]
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[Full Text: https://doi.org/10.1128/MCB.23.16.5947-5957.2003]
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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., Toyama, R., Mukai, S., Fujiki, Y., Tsukamoto, T., Osumi, T., Orii, T., Wanders, R. J. A., Kondo, N.
|
|
<strong>Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.</strong>
|
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Hum. Molec. Genet. 8: 1077-1083, 1999.
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[PubMed: 10332040]
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[Full Text: https://doi.org/10.1093/hmg/8.6.1077]
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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., Tsukamoto, T., Osumi, T., Tateishi, K., Okumoto, K., Fujiki, Y., Orii, T., Barth, P. G., Wanders, R. J. A., Kondo, N.
|
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<strong>Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13.</strong>
|
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Biochem. Biophys. Res. Commun. 243: 368-371, 1998.
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[PubMed: 9480815]
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[Full Text: https://doi.org/10.1006/bbrc.1997.8067]
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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 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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<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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Joanna S. Amberger - updated : 01/25/2017<br>Cassandra L. Kniffin - updated : 4/13/2011<br>Patricia A. Hartz - updated : 9/11/2003<br>Paul J. Converse - updated : 4/11/2002<br>Victor A. McKusick - updated : 9/20/1999<br>Victor A. McKusick - updated : 6/25/1999<br>Victor A. McKusick - updated : 6/1/1999<br>David Valle - reviewed : 6/23/1997
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</span>
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<span class="mim-text-font">
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Victor A. McKusick : 5/5/1997
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carol : 08/13/2018<br>alopez : 01/25/2017<br>joanna : 01/25/2017<br>alopez : 01/25/2017<br>carol : 09/16/2013<br>alopez : 10/25/2012<br>alopez : 10/24/2012<br>carol : 4/14/2011<br>ckniffin : 4/13/2011<br>terry : 2/2/2005<br>tkritzer : 7/20/2004<br>joanna : 3/17/2004<br>alopez : 11/3/2003<br>mgross : 9/11/2003<br>mgross : 4/11/2002<br>alopez : 11/15/1999<br>jlewis : 9/29/1999<br>terry : 9/20/1999<br>carol : 8/26/1999<br>joanna : 8/25/1999<br>carol : 7/9/1999<br>jlewis : 7/7/1999<br>terry : 6/25/1999<br>carol : 6/2/1999<br>terry : 6/1/1999<br>carol : 3/21/1998<br>mark : 6/24/1997<br>mark : 6/23/1997<br>mark : 5/5/1997
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