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Entry
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- *601757 - PEROXISOME BIOGENESIS FACTOR 7; PEX7
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*601757</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<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="#geneFamily">Gene Family</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601757">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000112357;t=ENST00000318471" 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=5191" 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=601757" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000112357;t=ENST00000318471" 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_000288,NM_001410945,XM_006715502,XM_047418874" 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_000288" 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=601757" 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=03454&isoform_id=03454_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/PEX7" 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/1907315,1947088,3122596,4505731,7157950,13623328,21595088,49457061,49457105,119568325,119568326,578812804,2217361728,2287780797,2462608829,2462608831" 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/O00628" 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=5191" 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=ENSG00000112357;t=ENST00000318471" 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=PEX7" 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=PEX7" 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+5191" 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/PEX7" 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:5191" 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/5191" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr6&hgg_gene=ENST00000318471.5&hgg_start=136822592&hgg_end=136913934&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8860" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:8860" 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://medlineplus.gov/genetics/gene/pex7" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601757[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=601757[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/ENSG00000112357" 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=PEX7" 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=PEX7" 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=PEX7" 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=PEX7&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/PA33202" 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:8860" 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/FBgn0035922.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:1321392" 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/PEX7#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:1321392" 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/5191/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=5191" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050320-105" 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:5191" 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=PEX7&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1003862001<br />
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">ICD+</a>
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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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601757
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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 7; PEX7
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</span>
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
PEROXIN 7<br />
|
|
PEROXISOMAL PTS2 RECEPTOR
|
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</span>
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PEX7" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PEX7</a></em></strong>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/6/889?start=-3&limit=10&highlight=889">6q23.3</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:136822592-136913934&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">6:136,822,592-136,913,934</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>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614879,215100" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/889?start=-3&limit=10&highlight=889">
|
|
6q23.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Peroxisome biogenesis disorder 9B
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614879"> 614879 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Rhizomelic chondrodysplasia punctata, type 1
|
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|
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/215100"> 215100 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
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<p>The peroxisome biogenesis disorders (PBDs; see <a href="/entry/214100">214100</a>) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. <a href="#4" class="mim-tip-reference" title="Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D. <strong>Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.</strong> Nature Genet. 15: 369-376, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090381</a>] [<a href="https://doi.org/10.1038/ng0497-369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090381">Braverman et al. (1997)</a> stated that at least 11 complementation groups (CGs) had been defined by somatic cell hybridization studies in patients with PBD phenotypes. Complementation groups 1 through 10 are not predictive of phenotype and contain patients with overlapping clinical features, including Zellweger syndrome (ZS; see <a href="/entry/214100">214100</a>) as the most severe phenotype, neonatal adrenoleukodystrophy (NALD; see <a href="/entry/601539">601539</a>), and infantile Refsum disease (IRD; see <a href="/entry/601539">601539</a>) as the least severe. Zellweger syndrome patients have developmental abnormalities as well as progressive dysfunction of the liver and central nervous system, leading to death before the end of the first year. Patients with NALD and IRD have similar but milder features. The entire collection of phenotypes was referred to by <a href="#4" class="mim-tip-reference" title="Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D. <strong>Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.</strong> Nature Genet. 15: 369-376, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090381</a>] [<a href="https://doi.org/10.1038/ng0497-369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090381">Braverman et al. (1997)</a> as the 'Zellweger syndrome spectrum.' Metabolic abnormalities characteristic of these patients include deficiency of plasmalogens and accumulation of phytanic acid and very long chain fatty acid (VLCFA). At the cellular level, these patients exhibit deficiency of multiple peroxisomal enzymes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9090381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><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>The concerted action of a set of peroxisomal assembly proteins (called peroxins) encoded by PEX genes (<a href="#7" class="mim-tip-reference" title="Distel, B., Erdmann, R., Gould, S. J., Blobel, G., Crane, D. I., Cregg, J. M., Dodt, G., Fujiki, Y., Goodman, J. M., Just, W. W., Kiel, J. A. K. W., Kunau, W.-H., and 13 others. <strong>A unified nomenclature for peroxisome biogenesis factors.</strong> J. Cell Biol. 135: 1-3, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858157</a>] [<a href="https://doi.org/10.1083/jcb.135.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8858157">Distel et al., 1996</a>) is required for import of matrix proteins into peroxisomes. Matrix proteins are translated on free polyribosomes and directed to the peroxisomes by cis-acting peroxisome targeting signals (PTSs). Most use a C-terminal ser-lys-leu (SKL), or variant thereof, termed PTS1 (<a href="#21" class="mim-tip-reference" title="Subramani, S. <strong>Protein import into peroxisomes and biogenesis of the organelle.</strong> Annu. Rev. Cell Biol. 9: 445-478, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8280468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8280468</a>] [<a href="https://doi.org/10.1146/annurev.cb.09.110193.002305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8280468">Subramani, 1993</a>). A few matrix proteins utilize PTS2, an N-terminal R/KLX(5)Q/HL (<a href="#23" class="mim-tip-reference" title="Swinkels, B. W., Gould, S. J., Bodnar, A. G., Rachubinski, R. A., Subramani, S. <strong>A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase.</strong> EMBO J. 10: 3255-3262, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1680677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1680677</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1991.tb04889.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1680677">Swinkels et al., 1991</a>). In mammals, peroxisomal thiolase (<a href="/entry/604054">604054</a>) is the only known PTS2-targeted protein. At least 15 PEX genes were identified in yeast, and the human orthologs of 3 of these were shown to be responsible for peroxisome biogenesis disorder complementation groups: PEX2 (<a href="/entry/170993">170993</a>), which corresponds to complementation group 10 (CG10) and which encodes a zinc finger-containing 35-kD integral peroxisomal membrane protein (IPMP); PEX5 (<a href="/entry/600414">600414</a>), corresponding to CG2, which encodes the cytosolic PTS1 receptor; and PEX6 (<a href="/entry/601498">601498</a>), corresponding to CG4, which encodes a cytosolic AAA ATPase. Additionally, the human ortholog of PEX13, which encodes an IPMP with an SH3 domain projecting into the cytosol, was described by <a href="#10" 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="#8" 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 the Saccharomyces cerevisiae peroxisomal membrane protein Pex13p functions as a docking site for Pex5p, a mobile receptor for the import 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>, and <a href="#9" 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>. The protein encoded by this gene binds the PTS1 receptor (PEX5) in a 2-hybrid assay and may function as a docking protein. Similarly, the human ortholog of PEX14 (<a href="#14" class="mim-tip-reference" title="Komori, M., Rasmussen, S. W., Kiel, J. A. K .W., Baerends, J. S., Cregg, J. M., van der Klei, I. J., Veenhuis, M. <strong>The Hansenula polymorpha PEX14 gene encodes a novel peroxisomal membrane protein essential for peroxisome biogenesis.</strong> EMBO J. 16: 44-53, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9009266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9009266</a>] [<a href="https://doi.org/10.1093/emboj/16.1.44" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9009266">Komori et al., 1997</a>) has been identified and encodes another peroxisomal integral membrane protein able to bind both the PTS1 receptor and the PTS2 receptor (<a href="#1" class="mim-tip-reference" title="Albertini, M., Rehling, P., Erdmann, R., Girzalsky, W., Kiel, J. A. K. W., Veenhuis, M., Hunau, W.-H. <strong>Pex14p, a peroxisomal membrane protein binding both receptors of the two PTS-dependent import pathways.</strong> Cell 89: 83-92, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9094717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9094717</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80185-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9094717">Albertini et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8858165+1680677+8858166+9009266+8858157+8280468+9094717+8858167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The yeast PEX7 gene (or PAS7), encoding the PTS2 receptor, was cloned in S. cerevisiae by <a href="#15" class="mim-tip-reference" title="Marzioch, M., Erdmann, R., Veenhuis, M., Kunau, W. H. <strong>PAS7 encodes a novel yeast member of the WD-40 protein family essential for import of 3-oxoacyl-CoA thiolase, a PTS2-containing protein, into peroxisomes.</strong> EMBO J. 13: 4908-4918, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7957058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7957058</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1994.tb06818.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7957058">Marzioch et al. (1994)</a> and <a href="#25" class="mim-tip-reference" title="Zhang, J. W., Lazarow, P. B. <strong>PEB1 (PAS7) in Saccharomyces cerevisiae encodes a hydrophilic, intra-peroxisomal protein that is a member of the WD repeat family and is essential for the import of thiolase into peroxisomes.</strong> J. Cell Biol. 129: 65-80, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7535304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7535304</a>] [<a href="https://doi.org/10.1083/jcb.129.1.65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7535304">Zhang and Lazarow (1995)</a>. These investigators predicted the human ortholog to be the site of the mutation causing classic rhizomelic chondrodysplasia punctata (RCDP1; <a href="/entry/215100">215100</a>) which is the peroxisome biogenesis disorder that belongs to CG11. In yeast, the PEX7 protein is a member of the WD40 family of proteins and interacts directly with the PTS2 sequence of peroxisomal thiolase or PTS2 reporter proteins. Mutant pex7 yeast has morphologically normal peroxisomes and normal PTS1 import but fails to import PTS2-targeted proteins (<a href="#15" class="mim-tip-reference" title="Marzioch, M., Erdmann, R., Veenhuis, M., Kunau, W. H. <strong>PAS7 encodes a novel yeast member of the WD-40 protein family essential for import of 3-oxoacyl-CoA thiolase, a PTS2-containing protein, into peroxisomes.</strong> EMBO J. 13: 4908-4918, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7957058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7957058</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1994.tb06818.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7957058">Marzioch et al., 1994</a>; <a href="#25" class="mim-tip-reference" title="Zhang, J. W., Lazarow, P. B. <strong>PEB1 (PAS7) in Saccharomyces cerevisiae encodes a hydrophilic, intra-peroxisomal protein that is a member of the WD repeat family and is essential for the import of thiolase into peroxisomes.</strong> J. Cell Biol. 129: 65-80, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7535304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7535304</a>] [<a href="https://doi.org/10.1083/jcb.129.1.65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7535304">Zhang and Lazarow, 1995</a>). Fibroblasts from RCDP type 1 patients have a peroxisomal import defect virtually identical to that of pex7 mutant yeast (<a href="#16" class="mim-tip-reference" title="Motley, A., Hettema, E., Distel, B., Tabak, H. <strong>Differential protein import deficiencies in human peroxisome assembly disorders.</strong> J. Cell Biol. 125: 755-767, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7910611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7910611</a>] [<a href="https://doi.org/10.1083/jcb.125.4.755" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7910611">Motley et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7535304+7910611+7957058" 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>Peroxisomal biogenesis disorder CG11 (the second most numerous complementation group) includes patients with classic rhizomelic chondrodysplasia punctata. Compared to patients in the Zellweger syndrome spectrum, RCDP patients have a higher level of phytanic acid and a more profound deficiency of plasmalogens but normal levels of VLCFA. To identify the molecular defect of RCDP, <a href="#4" class="mim-tip-reference" title="Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D. <strong>Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.</strong> Nature Genet. 15: 369-376, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090381</a>] [<a href="https://doi.org/10.1038/ng0497-369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090381">Braverman et al. (1997)</a> used a 'homology probing' strategy to probe the EST database; with the yeast PEX7 protein sequence they could identify candidate cDNAs for the human and murine PEX7 genes. They cloned a human homolog encoding a 323-amino acid protein and a mouse homolog encoding a 318-amino acid protein. The human polypeptide shares 91% and 33% amino acid identity with its murine and S. cerevisiae orthologs, respectively. <a href="#4" class="mim-tip-reference" title="Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D. <strong>Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.</strong> Nature Genet. 15: 369-376, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090381</a>] [<a href="https://doi.org/10.1038/ng0497-369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090381">Braverman et al. (1997)</a> showed that expression of full-length human and murine PEX7 cDNAs restored PTS2-mediated import to RCDP fibroblasts and they identified functionally significant mutations in the PEX7 genes of RCDP patients, 1 of which (leu292 to ter; <a href="#0001">601757.0001</a>) accounts for about half of all RCDP mutant genes. As expected for a gene involved in the biogenesis of a ubiquitous organelle, they detected a 1.7-kb human PEX7 transcript in all tissues examined. In tissues with highest PEX7 expression (pancreas, skeletal muscle, and heart), a second transcript of approximately 1.5 kb was present in low abundance. The significance of this shorter transcript is unclear. <a href="#18" class="mim-tip-reference" title="Motley, A. M., Hettema, E. H., Hogenhout, E. M., Brites, P., ten Asbroek, A. L. M. A., Wijburg, F. A., Baas, F., Heijmans, H. S., Tabak, H. F., Wanders, R. J. A., Distel, B. <strong>Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.</strong> Nature Genet. 15: 377-380, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090382</a>] [<a href="https://doi.org/10.1038/ng0497-377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090382">Motley et al. (1997)</a> cloned PEX7 based on its similarity to its yeast ortholog and stated that all RCDP patients in CG11 were found to contain mutations in PEX7. A PEX7 mutation (leu292 to ter) cosegregated with the disease, and expression of PEX7 in RCDP fibroblasts from CG11 corrected the PTS2 protein import deficiency. <a href="#19" class="mim-tip-reference" title="Purdue, P. E., Zhang, J. W., Skoneczny, M., Lararow, P. B. <strong>Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.</strong> Nature Genet. 15: 381-384, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090383</a>] [<a href="https://doi.org/10.1038/ng0497-381" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090383">Purdue et al. (1997)</a> likewise cloned the human ortholog of yeast PEX7 and demonstrated that the gene is defective in RCDP. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9090382+9090383+9090381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Braverman, N., Steel, G., Lin, P., Moser, A., Moser, H., Valle, D. <strong>PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.</strong> Genomics 63: 181-192, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10673331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10673331</a>] [<a href="https://doi.org/10.1006/geno.1999.6080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10673331">Braverman et al. (2000)</a> demonstrated that the transcribed portion of the PEX7 gene is 102 kb and contains 10 exons varying from 57 to 482 bp. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10673331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D. <strong>Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.</strong> Nature Genet. 15: 369-376, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090381</a>] [<a href="https://doi.org/10.1038/ng0497-369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090381">Braverman et al. (1997)</a> mapped the PEX7 gene to 6q22-q24 by probing a rodent/human hybrid mapping panel with a cDNA probe followed by regionalization with a radiation hybrid panel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9090381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><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="#11" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 3/19/2014."None>Gross (2014)</a> mapped the PEX7 gene to chromosome 6q23.3 based on an alignment of the PEX7 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC006268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC006268</a>) with the genomic sequence (GRCh37).</p>
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<p><strong><em>Rhizomelic Chondrodysplasia Punctata Type 1</em></strong></p><p>
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<a href="#17" class="mim-tip-reference" title="Motley, A. M., Brites, P., Gerez, L., Hogenhout, E., Haasjes, J., Benne, R., Tabak, H. F., Wanders, R. J. A., Waterham, H. R. <strong>Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.</strong> Am. J. Hum. Genet. 70: 612-624, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11781871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11781871</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11781871[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/338998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11781871">Motley et al. (2002)</a> reported the mutational spectrum in the PEX7 gene of 78 patients (including 5 pairs of sibs) clinically and biochemically diagnosed with RCDP type 1 (RCDP1; <a href="/entry/215100">215100</a>). They found 22 different mutations, including 18 novel ones. Furthermore, they showed by functional analysis that disease severity correlated with PEX7 allele activity: expression of 8 different alleles from patients with severe RCDP failed to restore the targeting defect in RCDP fibroblasts, whereas 2 alleles found only in patients with mild disease complemented the targeting defect upon overexpression. Surprisingly, one of the mild alleles comprises a duplication of nucleotides 45-52 (<a href="#0005">601757.0005</a>), which was predicted to lead to a frameshift at codon 17 and an absence of functional peroxin-7. The ability of this allele to complement the targeting defect in RCDP cells suggested that frame restoration occurs, resulting in full-length functional peroxin-7, which leads to amelioration of the predicted severe phenotype. This was confirmed in vitro by expression of the 8-nucleotide duplication-containing sequence fused in different reading frames to the coding sequence of firefly luciferase in COS cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11781871" 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="Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., Moser, H., Valle, D. <strong>Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.</strong> Hum. Mutat. 20: 284-297, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12325024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12325024</a>] [<a href="https://doi.org/10.1002/humu.10124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12325024">Braverman et al. (2002)</a> analyzed 60 probands with RCDP and identified 24 PEX7 alleles, accounting for 95% of the mutant PEX7 genes in their sample. Of these, 50% were L292X (<a href="#0001">601757.0001</a>), 13% were IVS9+1G-C (<a href="#0006">601757.0006</a>), and the remainder were mostly private mutations. IVS9+1G-C occurred on at least 3 different haplotypes and thus appeared to result from recurrent mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12325024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Peroxisome Biogenesis Disorder 9B</em></strong></p><p>
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A clinical phenotype indistinguishable from that of classic Refsum disease (<a href="/entry/266500">266500</a>), caused by mutation in the PHYH gene (<a href="/entry/602026">602026</a>), can be caused by mutation in the PEX7 gene; see PBD9B (<a href="/entry/614879">614879</a>) for a complete phenotypic description.</p><p><a href="#2" class="mim-tip-reference" title="Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., Moser, H., Valle, D. <strong>Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.</strong> Hum. Mutat. 20: 284-297, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12325024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12325024</a>] [<a href="https://doi.org/10.1002/humu.10124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12325024">Braverman et al. (2002)</a> and <a href="#24" class="mim-tip-reference" title="van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G. A., Waterham, H. R., Wanders, R. J. A. <strong>Identification of PEX7 as the second gene involved in Refsum disease.</strong> Am. J. Hum. Genet. 72: 471-477, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522768</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12522768[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/346093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522768">van den Brink et al. (2003)</a> demonstrated mutations in the PEX7 gene (see, e.g., <a href="#0007">601757.0007</a>-<a href="#0011">601757.0011</a>) in patients diagnosed with Refsum disease, an autosomal recessive disorder characterized by progressive adult retinitis pigmentosa, peripheral neuropathy, anosmia, and cerebellar ataxia, among other features. The onset of clinical symptoms in adolescence is due to gradual accumulation of phytanic acid. The peroxisomal enzyme phytanoyl-CoA hydroxylase (PHYH) catalyzes the first step of alpha-oxidation of phytanic acid. Biochemical analyses in Refsum patients reported by <a href="#24" class="mim-tip-reference" title="van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G. A., Waterham, H. R., Wanders, R. J. A. <strong>Identification of PEX7 as the second gene involved in Refsum disease.</strong> Am. J. Hum. Genet. 72: 471-477, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522768</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12522768[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/346093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522768">van den Brink et al. (2003)</a> showed defects not only in phytanic acid alpha-oxidation, but also in plasmalogen synthesis and peroxisomal thiolase. These findings indicated that mutations in PEX7 may result in a broad clinical spectrum ranging from severe rhizomelic chondrodysplasia punctata to relatively mild Refsum disease, and that clinical diagnosis of conditions involving retinitis pigmentosa, ataxia, and polyneuropathy may require a full screen of peroxisomal functions. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12522768+12325024" 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="#13" class="mim-tip-reference" title="Jansen, G. A., Waterham, H. R., Wanders, R. J. A. <strong>Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).</strong> Hum. Mutat. 23: 209-218, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14974078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14974078</a>] [<a href="https://doi.org/10.1002/humu.10315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14974078">Jansen et al. (2004)</a> reviewed 5 sequence variants in the PEX7 gene causing a Refsum disease phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14974078" 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="Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., Moser, H., Valle, D. <strong>Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.</strong> Hum. Mutat. 20: 284-297, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12325024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12325024</a>] [<a href="https://doi.org/10.1002/humu.10124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12325024">Braverman et al. (2002)</a> found the phenotypic spectrum of RCDP to be broader than previously recognized, as it includes minimally affected individuals at the mild end of the spectrum. To relate PEX7 genotype and phenotype, they evaluated the consequence of the disease mutation on PEX7 RNA by Northern analysis and RT-PCR. They evaluated the function of the encoded PEX7 protein by expressing selected alleles in fibroblasts from RCDP patients and assaying their ability to restore import of a PTS2 marker protein. Residual activity of the mutant protein and reduced amounts of normal PEX7 protein were associated with milder and variant phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12325024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Brites, P., Motley, A. M., Gressens, P., Mooyer, P. A. W., Ploegaert, I., Everts, V., Evrard, P., Carmeliet, P., Dewerchin, M., Schoonjans, L., Duran, M., Waterham, H. R., Wanders, R. J. A., Baes, M. <strong>Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.</strong> Hum. Molec. Genet. 12: 2255-2267, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915479</a>] [<a href="https://doi.org/10.1093/hmg/ddg236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12915479">Brites et al. (2003)</a> generated Pex7-knockout mice (Pex7 -/-), which were severely hypotonic at birth and exhibited growth impairment. Mortality was highest in the perinatal period, although some Pex7 -/- mice survived beyond 18 months. Biochemically, Pex7 -/- mice displayed a severe depletion of plasmalogens, impaired alpha-oxidation of phytanic acid, and impaired beta-oxidation of very long chain fatty acids. Pex7 -/- mice displayed increased neuronal density in parts of the cerebral cortex and had a delay in neuronal migration. Analysis of bone ossification in newborn Pex7 -/- mice revealed a defect in ossification of distal bone elements of the limbs as well as parts of the skull and vertebrae. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12915479" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0001 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008222 OR RCV000339271 OR RCV000352824 OR RCV000380952 OR RCV000477898" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008222, RCV000339271, RCV000352824, RCV000380952, RCV000477898" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008222...</a>
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<p>In 26 of 36 probands with rhizomelic chondrodysplasia punctata (RCDP1; <a href="/entry/215100">215100</a>), <a href="#4" class="mim-tip-reference" title="Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D. <strong>Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.</strong> Nature Genet. 15: 369-376, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090381</a>] [<a href="https://doi.org/10.1038/ng0497-369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090381">Braverman et al. (1997)</a> found a nonsense mutation, leu292 to ter (L292X). All these probands had a severe phenotype. The same mutation, resulting from an A-to-T transversion at nucleotide 875, was identified by <a href="#19" class="mim-tip-reference" title="Purdue, P. E., Zhang, J. W., Skoneczny, M., Lararow, P. B. <strong>Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.</strong> Nature Genet. 15: 381-384, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090383</a>] [<a href="https://doi.org/10.1038/ng0497-381" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090383">Purdue et al. (1997)</a> and <a href="#18" class="mim-tip-reference" title="Motley, A. M., Hettema, E. H., Hogenhout, E. M., Brites, P., ten Asbroek, A. L. M. A., Wijburg, F. A., Baas, F., Heijmans, H. S., Tabak, H. F., Wanders, R. J. A., Distel, B. <strong>Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.</strong> Nature Genet. 15: 377-380, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090382</a>] [<a href="https://doi.org/10.1038/ng0497-377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090382">Motley et al. (1997)</a>. <a href="#4" class="mim-tip-reference" title="Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D. <strong>Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.</strong> Nature Genet. 15: 369-376, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090381</a>] [<a href="https://doi.org/10.1038/ng0497-369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090381">Braverman et al. (1997)</a> suggested that founder effect may account for the high frequency of L292X in northern Europeans; none of the 26 patients either heterozygous or homozygous for L292X were of African or Asian descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9090382+9090383+9090381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Chilean boy with a typical RCDP phenotype and an inversion of chromosome 8 reported by <a href="#6" class="mim-tip-reference" title="Castillo-Taucher, S., Beca, J. P., Saez, R., Geldres, V. <strong>Balanced pericentric inversion 8 (p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother. (Letter)</strong> Clin. Genet. 40: 247-248, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1773541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1773541</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1991.tb03086.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1773541">Castillo-Taucher et al. (1991)</a>, <a href="#20" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Zhang, Z., Miura, K., Matsumoto, A., Nagaya, M., Castillo-Taucher, S., Kondo, N. <strong>A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.</strong> J. Hum. Genet. 44: 123-125, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10083738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10083738</a>] [<a href="https://doi.org/10.1007/s100380050123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10083738">Shimozawa et al. (1999)</a> found the L292X mutation in compound heterozygous state with A218V (<a href="#0002">601757.0002</a>). The inversion was also present in the child's unaffected mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10083738+1773541" 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="#17" class="mim-tip-reference" title="Motley, A. M., Brites, P., Gerez, L., Hogenhout, E., Haasjes, J., Benne, R., Tabak, H. F., Wanders, R. J. A., Waterham, H. R. <strong>Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.</strong> Am. J. Hum. Genet. 70: 612-624, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11781871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11781871</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11781871[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/338998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11781871">Motley et al. (2002)</a> found the L292X mutation to be by far the most common mutation causing RCDP type 1, followed by the A218V missense mutation (<a href="#0002">601757.0002</a>). In their large series, these 2 mutations were approximately 52% and 12%, respectively, which is similar to the frequencies of 49% and 6% reported by <a href="#3" class="mim-tip-reference" title="Braverman, N., Steel, G., Lin, P., Moser, A., Moser, H., Valle, D. <strong>PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.</strong> Genomics 63: 181-192, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10673331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10673331</a>] [<a href="https://doi.org/10.1006/geno.1999.6080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10673331">Braverman et al. (2000)</a>, who analyzed 36 patients with RCDP type 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11781871+10673331" 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> rs121909151 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909151;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/rs121909151?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=rs121909151" 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=rs121909151" 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=RCV000008223 OR RCV000032925 OR RCV000656252 OR RCV001831555 OR RCV002504768 OR RCV004732537" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008223, RCV000032925, RCV000656252, RCV001831555, RCV002504768, RCV004732537" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008223...</a>
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<p><a href="#4" class="mim-tip-reference" title="Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D. <strong>Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.</strong> Nature Genet. 15: 369-376, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090381</a>] [<a href="https://doi.org/10.1038/ng0497-369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090381">Braverman et al. (1997)</a> found an ala218-to-val (A218V) amino acid substitution in PEX7 in 3 probands with rhizomelic chondrodysplasia punctata (RCDP1; <a href="/entry/215100">215100</a>), including 2 with a milder phenotype (PBD9B; <a href="/entry/614879">614879</a>) than that in probands with the L292X mutation (<a href="#0001">601757.0001</a>). The substitution resulted from a 653C-T transition. <a href="#18" class="mim-tip-reference" title="Motley, A. M., Hettema, E. H., Hogenhout, E. M., Brites, P., ten Asbroek, A. L. M. A., Wijburg, F. A., Baas, F., Heijmans, H. S., Tabak, H. F., Wanders, R. J. A., Distel, B. <strong>Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.</strong> Nature Genet. 15: 377-380, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090382</a>] [<a href="https://doi.org/10.1038/ng0497-377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090382">Motley et al. (1997)</a> also detected this mutation in RCDP patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9090382+9090381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<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> rs121909152 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909152;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/rs121909152?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=rs121909152" 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=rs121909152" 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=RCV000008224 OR RCV000454287 OR RCV001509294 OR RCV001831556 OR RCV002512897 OR RCV005031421" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008224, RCV000454287, RCV001509294, RCV001831556, RCV002512897, RCV005031421" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008224...</a>
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<p>In 5 probands with rhizomelic chondrodysplasia punctata (RCDP1; <a href="/entry/215100">215100</a>), <a href="#4" class="mim-tip-reference" title="Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D. <strong>Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.</strong> Nature Genet. 15: 369-376, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090381</a>] [<a href="https://doi.org/10.1038/ng0497-369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090381">Braverman et al. (1997)</a> found a gly217-to-arg (G217R) mutation resulting from a 649G-A transition in exon 7 of the PEX7 gene in compound heterozygosity with L292X (<a href="#0001">601757.0001</a>). They also found 1 patient who was homozygous for the G217R mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9090381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><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 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008225 OR RCV000255604 OR RCV001064035 OR RCV001826452" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008225, RCV000255604, RCV001064035, RCV001826452" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008225...</a>
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<p>In a 7-year-old girl, the first Japanese individual to be diagnosed biochemically with rhizomelic chondrodysplasia punctata (RCDP1; <a href="/entry/215100">215100</a>), <a href="#20" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Zhang, Z., Miura, K., Matsumoto, A., Nagaya, M., Castillo-Taucher, S., Kondo, N. <strong>A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.</strong> J. Hum. Genet. 44: 123-125, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10083738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10083738</a>] [<a href="https://doi.org/10.1007/s100380050123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10083738">Shimozawa et al. (1999)</a> identified an arg232-to-ter (R232X) mutation in the PEX7 gene, which had been inherited from her consanguineous parents. This patient was previously reported by <a href="#22" class="mim-tip-reference" title="Suzuki, Y., Shimozawa, N., Izai, K., Uchida, Y., Miura, K., Akatsuka, H., Nagaya, M., Yamaguchi, S., Orii, T. <strong>Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata.</strong> J. Inherit. Metab. Dis. 16: 868-871, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8295403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8295403</a>] [<a href="https://doi.org/10.1007/BF00714280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8295403">Suzuki et al. (1993)</a> and had severe psychomotor retardation. The nonsense mutation deleted all of the last 2 WD40 repeats in the PEX7 gene and was sufficient to inactivate functions of the PEX7 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10083738+8295403" 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">rs63535662 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs63535662;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=rs63535662" 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=rs63535662" 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=RCV000008226 OR RCV000032589" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008226, RCV000032589" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008226...</a>
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<p>In 2 patients with a mild chondrodysplasia punctata phenotype with no rhizomelia (PBD9B; <a href="/entry/614879">614879</a>), one from a Swiss family and the other from a French, <a href="#17" class="mim-tip-reference" title="Motley, A. M., Brites, P., Gerez, L., Hogenhout, E., Haasjes, J., Benne, R., Tabak, H. F., Wanders, R. J. A., Waterham, H. R. <strong>Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.</strong> Am. J. Hum. Genet. 70: 612-624, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11781871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11781871</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11781871[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/338998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11781871">Motley et al. (2002)</a> detected homozygosity for an 8-nucleotide duplication of nucleotides 45-52 in the PEX7 cDNA (52dupGGGACGCC), predicted to result in frameshift at codon 17 in exon 1 of the PEX7 gene. Coexpression of the 8-bp dup allele with PTS2-tagged GFP in skin fibroblasts from a patient homozygous for a PEX7 null mutation resulted in partial restoration of PTS2-mediated peroxisomal protein import. Although the mutation was predicted to lead to absence of functional peroxin-7, the in vitro results suggested that frame restoration occurs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11781871" 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> rs148591292 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs148591292;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/rs148591292?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=rs148591292" 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=rs148591292" 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=RCV000008227 OR RCV000309699 OR RCV000388756 OR RCV000579182 OR RCV001027954 OR RCV005003344" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008227, RCV000309699, RCV000388756, RCV000579182, RCV001027954, RCV005003344" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008227...</a>
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<p>In a study of 60 probands with rhizomelic chondrodysplasia punctata (RCDP1; <a href="/entry/215100">215100</a>), <a href="#2" class="mim-tip-reference" title="Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., Moser, H., Valle, D. <strong>Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.</strong> Hum. Mutat. 20: 284-297, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12325024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12325024</a>] [<a href="https://doi.org/10.1002/humu.10124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12325024">Braverman et al. (2002)</a> found 16 cases of the IVS9+1G-C splice site mutation, which occurred on at least 3 different haplotypes and thus appeared to result from recurrent mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12325024" 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> rs121909154 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909154;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/rs121909154?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=rs121909154" 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=rs121909154" 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=RCV000008228 OR RCV000411170 OR RCV001826453" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008228, RCV000411170, RCV001826453" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008228...</a>
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<p>In a 58-year-old patient with a mild peroxisome biogenesis disorder (PBD9B; <a href="/entry/614879">614879</a>), <a href="#2" class="mim-tip-reference" title="Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., Moser, H., Valle, D. <strong>Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.</strong> Hum. Mutat. 20: 284-297, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12325024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12325024</a>] [<a href="https://doi.org/10.1002/humu.10124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12325024">Braverman et al. (2002)</a> found compound heterozygosity for 2 truncating mutations in the PEX7 gene: tyr115 to ter and IVS3-10A-G (<a href="#0008">601757.0008</a>). This patient had been diagnosed with Refsum disease (<a href="/entry/266500">266500</a>) by Sigvald Refsum in 1948 (<a href="#12" class="mim-tip-reference" title="Horn, M. A., van den Brink, D. M., Wanders, R. J. A., Duran, M., Poll-The, B. T., Tallaksen, C. M. E., Stokke, O. H., Moser, H., Skjeldal, O. H. <strong>Phenotype of adult Refsum disease due to a defect in peroxin 7.</strong> Neurology 68: 698-700, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17325280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17325280</a>] [<a href="https://doi.org/10.1212/01.wnl.0000255960.01644.39" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17325280">Horn et al., 2007</a>). As mutations in the peroxisomal enzyme PAHX (<a href="/entry/602026">602026</a>) result in classic Refsum disease, <a href="#2" class="mim-tip-reference" title="Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., Moser, H., Valle, D. <strong>Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.</strong> Hum. Mutat. 20: 284-297, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12325024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12325024</a>] [<a href="https://doi.org/10.1002/humu.10124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12325024">Braverman et al. (2002)</a> hypothesized that mutations in the other peroxisomal enzyme, PEX7, result in the accumulation of phytanic acid over time to produce the Refsum disease-like phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12325024+17325280" 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> rs267608255 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267608255;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/rs267608255?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=rs267608255" 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=rs267608255" 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=RCV000008229 OR RCV000032116 OR RCV000393497 OR RCV000731239 OR RCV004814859 OR RCV005042014" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008229, RCV000032116, RCV000393497, RCV000731239, RCV004814859, RCV005042014" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008229...</a>
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<p>For discussion of the splice site mutation in the PEX7 gene (IVS3-10A-G) that was found in compound heterozygous state in a patient with a mild peroxisome biogenesis disorder (PBD9B; <a href="/entry/614879">614879</a>) by <a href="#2" class="mim-tip-reference" title="Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., Moser, H., Valle, D. <strong>Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.</strong> Hum. Mutat. 20: 284-297, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12325024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12325024</a>] [<a href="https://doi.org/10.1002/humu.10124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12325024">Braverman et al. (2002)</a>, see <a href="#0007">601757.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12325024" 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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RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, INCLUDED
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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> rs61753238 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61753238;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/rs61753238?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=rs61753238" 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=rs61753238" 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=RCV000008230 OR RCV000147254 OR RCV000324320 OR RCV000763558 OR RCV001826454 OR RCV002512898 OR RCV003137500 OR RCV005031422" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008230, RCV000147254, RCV000324320, RCV000763558, RCV001826454, RCV002512898, RCV003137500, RCV005031422" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008230...</a>
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<p>In 2 probands with a mild peroxisome biogenesis disorder (PBD9B; <a href="/entry/614879">614879</a>), <a href="#24" class="mim-tip-reference" title="van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G. A., Waterham, H. R., Wanders, R. J. A. <strong>Identification of PEX7 as the second gene involved in Refsum disease.</strong> Am. J. Hum. Genet. 72: 471-477, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522768</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12522768[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/346093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522768">van den Brink et al. (2003)</a> found compound heterozygosity for a 120C-G transversion in the PEX7 gene, resulting in a tyr40-to-ter (Y40X) mutation. Both probands had received a clinical diagnosis of Refsum disease (<a href="/entry/266500">266500</a>). The Y40X mutation had previously been observed in patients with classic rhizomelic chondrodysplasia punctata type 1 (RCDP1; <a href="/entry/215100">215100</a>) with a severe clinical presentation (<a href="#17" class="mim-tip-reference" title="Motley, A. M., Brites, P., Gerez, L., Hogenhout, E., Haasjes, J., Benne, R., Tabak, H. F., Wanders, R. J. A., Waterham, H. R. <strong>Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.</strong> Am. J. Hum. Genet. 70: 612-624, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11781871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11781871</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11781871[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/338998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11781871">Motley et al., 2002</a>). The comparatively mild phenotype in the 2 probands reported by <a href="#24" class="mim-tip-reference" title="van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G. A., Waterham, H. R., Wanders, R. J. A. <strong>Identification of PEX7 as the second gene involved in Refsum disease.</strong> Am. J. Hum. Genet. 72: 471-477, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522768</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12522768[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/346093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522768">van den Brink et al. (2003)</a> seemed attributable to the presence of a second mutation associated with residual activity of the gene product. This was a 7-bp duplication of nucleotides 12-18, predicted to cause a frameshift leading to a premature termination codon at amino acid position 57 (<a href="#0010">601757.0010</a>) in the first patient, and a thr14-to-pro amino acid substitution (T14P; <a href="#0011">601757.0011</a>) in the other. In the first family, clinical features included onset in the first and second decades of retinitis pigmentosa, anosmia, short fifth metacarpal and palmar ichthyosis, pes cavus, musculature weakness, and nerve hypertrophy. One patient was mildly affected. The proband of the second family was born with bilateral cataracts, but presented to a neurology clinic at age 20 years with polyneuritis and onset of ataxia at age 19 years. She had bilateral short fifth metacarpals and metatarsals, and mild retinitis pigmentosa. Her brother presented at age 34 years with mild ataxia and mild retinitis pigmentosa but no night blindness, obvious anosmia, or deafness. Neither patient had any episodes of ichthyosis or signs of deafness. One other male sib died of supposed poliomyelitis with symptoms of weakness and ataxia at age 12 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11781871+12522768" 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">rs62636519 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs62636519;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=rs62636519" 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=rs62636519" 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=RCV000008232 OR RCV000411594 OR RCV001828372" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008232, RCV000411594, RCV001828372" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008232...</a>
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<p>For discussion of the 7-bp duplication in the PEX7 gene that was found in compound heterozygous state in a patient with a mild peroxisome biogenesis disorder (PBD9B; <a href="/entry/614879">614879</a>) by <a href="#24" class="mim-tip-reference" title="van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G. A., Waterham, H. R., Wanders, R. J. A. <strong>Identification of PEX7 as the second gene involved in Refsum disease.</strong> Am. J. Hum. Genet. 72: 471-477, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522768</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12522768[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/346093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522768">van den Brink et al. (2003)</a>, see <a href="#0009">601757.0009</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12522768" 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">rs61753233 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61753233;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=rs61753233" 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=rs61753233" 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=RCV000008233 OR RCV000032117 OR RCV005031423" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008233, RCV000032117, RCV005031423" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008233...</a>
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<p>For discussion of the thr14-to-pro (T14P) mutation in the PEX7 gene that was found in compound heterozygous state in a patient with a mild peroxisome biogenesis disorder (PBD9B; <a href="/entry/614879">614879</a>) by <a href="#24" class="mim-tip-reference" title="van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G. A., Waterham, H. R., Wanders, R. J. A. <strong>Identification of PEX7 as the second gene involved in Refsum disease.</strong> Am. J. Hum. Genet. 72: 471-477, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522768</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12522768[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/346093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522768">van den Brink et al. (2003)</a>, see <a href="#0009">601757.0009</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12522768" 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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Albertini, M., Rehling, P., Erdmann, R., Girzalsky, W., Kiel, J. A. K. W., Veenhuis, M., Hunau, W.-H.
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<strong>Pex14p, a peroxisomal membrane protein binding both receptors of the two PTS-dependent import pathways.</strong>
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Cell 89: 83-92, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9094717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9094717</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9094717" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(00)80185-3" target="_blank">Full Text</a>]
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Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., Moser, H., Valle, D.
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<strong>Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.</strong>
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Hum. Mutat. 20: 284-297, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12325024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12325024</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12325024" 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.10124" target="_blank">Full Text</a>]
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Braverman, N., Steel, G., Lin, P., Moser, A., Moser, H., Valle, D.
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<strong>PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.</strong>
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Genomics 63: 181-192, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10673331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10673331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10673331" 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.1999.6080" target="_blank">Full Text</a>]
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Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D.
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<strong>Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.</strong>
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Nature Genet. 15: 369-376, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090381</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9090381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0497-369" target="_blank">Full Text</a>]
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Brites, P., Motley, A. M., Gressens, P., Mooyer, P. A. W., Ploegaert, I., Everts, V., Evrard, P., Carmeliet, P., Dewerchin, M., Schoonjans, L., Duran, M., Waterham, H. R., Wanders, R. J. A., Baes, M.
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<strong>Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8295403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8295403</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8295403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00714280" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
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<a id="Swinkels1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Swinkels, B. W., Gould, S. J., Bodnar, A. G., Rachubinski, R. A., Subramani, S.
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<strong>A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase.</strong>
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EMBO J. 10: 3255-3262, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1680677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1680677</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1680677" 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/j.1460-2075.1991.tb04889.x" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
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<a id="van den Brink2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G. A., Waterham, H. R., Wanders, R. J. A.
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<strong>Identification of PEX7 as the second gene involved in Refsum disease.</strong>
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Am. J. Hum. Genet. 72: 471-477, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522768</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12522768[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=12522768" 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/10.1086/346093" target="_blank">Full Text</a>]
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</p>
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<a id="25" class="mim-anchor"></a>
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<a id="Zhang1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, J. W., Lazarow, P. B.
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<strong>PEB1 (PAS7) in Saccharomyces cerevisiae encodes a hydrophilic, intra-peroxisomal protein that is a member of the WD repeat family and is essential for the import of thiolase into peroxisomes.</strong>
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J. Cell Biol. 129: 65-80, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7535304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7535304</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7535304" 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.129.1.65" target="_blank">Full Text</a>]
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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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Matthew B. Gross - updated : 3/19/2014
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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George E. Tiller - updated : 9/9/2005<br>Victor A. McKusick - updated : 4/7/2004<br>Victor A. McKusick - updated : 2/27/2003<br>Victor A. McKusick - updated : 11/21/2002<br>Anne M. Stumpf - updated : 11/6/2002<br>Victor A. McKusick - updated : 11/1/2002<br>Victor A. McKusick - updated : 3/21/2002<br>Victor A. McKusick - updated : 4/12/1999<br>David Valle - updated : 5/5/1997
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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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<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 : 4/15/1997
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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 : 07/18/2019
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<span class="mim-text-font">
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alopez : 10/17/2016<br>carol : 07/21/2015<br>mcolton : 7/7/2015<br>mgross : 3/19/2014<br>alopez : 10/25/2012<br>alopez : 10/25/2012<br>alopez : 10/25/2012<br>alopez : 10/24/2012<br>carol : 11/25/2009<br>ckniffin : 11/19/2009<br>carol : 7/16/2008<br>alopez : 9/30/2005<br>terry : 9/9/2005<br>tkritzer : 7/20/2004<br>tkritzer : 4/12/2004<br>terry : 4/7/2004<br>tkritzer : 4/8/2003<br>carol : 3/4/2003<br>tkritzer : 3/3/2003<br>tkritzer : 3/3/2003<br>terry : 2/27/2003<br>cwells : 11/21/2002<br>terry : 11/20/2002<br>alopez : 11/6/2002<br>alopez : 11/6/2002<br>tkritzer : 11/4/2002<br>terry : 11/1/2002<br>terry : 6/27/2002<br>alopez : 6/17/2002<br>alopez : 4/2/2002<br>alopez : 3/27/2002<br>terry : 3/21/2002<br>terry : 6/9/1999<br>carol : 4/13/1999<br>terry : 4/12/1999<br>carol : 6/23/1998<br>terry : 6/4/1998<br>carol : 3/21/1998<br>terry : 11/5/1997<br>terry : 9/29/1997<br>alopez : 7/30/1997<br>terry : 7/28/1997<br>terry : 7/8/1997<br>mark : 6/23/1997<br>joanna : 6/23/1997<br>mark : 5/5/1997<br>mark : 5/5/1997<br>mark : 4/21/1997<br>mark : 4/21/1997
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<span class="mim-font">
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<strong>*</strong> 601757
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<h3>
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PEROXISOME BIOGENESIS FACTOR 7; PEX7
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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PEROXIN 7<br />
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PEROXISOMAL PTS2 RECEPTOR
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<strong><em>HGNC Approved Gene Symbol: PEX7</em></strong>
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<strong>SNOMEDCT:</strong> 1003862001;
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<strong>
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<em>
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Cytogenetic location: 6q23.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:136,822,592-136,913,934 </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 class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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Inheritance
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<th>
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Phenotype <br /> mapping key
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<span class="mim-font">
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6q23.3
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Peroxisome biogenesis disorder 9B
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<span class="mim-font">
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614879
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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Rhizomelic chondrodysplasia punctata, type 1
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<span class="mim-font">
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215100
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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<div>
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<h4>
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<strong>Gene Family</strong>
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<span class="mim-text-font">
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<p>The peroxisome biogenesis disorders (PBDs; see 214100) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. Braverman et al. (1997) stated that at least 11 complementation groups (CGs) had been defined by somatic cell hybridization studies in patients with PBD phenotypes. Complementation groups 1 through 10 are not predictive of phenotype and contain patients with overlapping clinical features, including Zellweger syndrome (ZS; see 214100) as the most severe phenotype, neonatal adrenoleukodystrophy (NALD; see 601539), and infantile Refsum disease (IRD; see 601539) as the least severe. Zellweger syndrome patients have developmental abnormalities as well as progressive dysfunction of the liver and central nervous system, leading to death before the end of the first year. Patients with NALD and IRD have similar but milder features. The entire collection of phenotypes was referred to by Braverman et al. (1997) as the 'Zellweger syndrome spectrum.' Metabolic abnormalities characteristic of these patients include deficiency of plasmalogens and accumulation of phytanic acid and very long chain fatty acid (VLCFA). At the cellular level, these patients exhibit deficiency of multiple peroxisomal enzymes. </p><p>The concerted action of a set of peroxisomal assembly proteins (called peroxins) encoded by PEX genes (Distel et al., 1996) is required for import of matrix proteins into peroxisomes. Matrix proteins are translated on free polyribosomes and directed to the peroxisomes by cis-acting peroxisome targeting signals (PTSs). Most use a C-terminal ser-lys-leu (SKL), or variant thereof, termed PTS1 (Subramani, 1993). A few matrix proteins utilize PTS2, an N-terminal R/KLX(5)Q/HL (Swinkels et al., 1991). In mammals, peroxisomal thiolase (604054) is the only known PTS2-targeted protein. At least 15 PEX genes were identified in yeast, and the human orthologs of 3 of these were shown to be responsible for peroxisome biogenesis disorder complementation groups: PEX2 (170993), which corresponds to complementation group 10 (CG10) and which encodes a zinc finger-containing 35-kD integral peroxisomal membrane protein (IPMP); PEX5 (600414), corresponding to CG2, which encodes the cytosolic PTS1 receptor; and PEX6 (601498), corresponding to CG4, which encodes a cytosolic AAA ATPase. Additionally, the human ortholog of PEX13, which encodes an IPMP with an SH3 domain projecting into the cytosol, was described by Gould et al. (1996), Elgersma et al. (1996), and Erdmann and Blobel (1996). The protein encoded by this gene binds the PTS1 receptor (PEX5) in a 2-hybrid assay and may function as a docking protein. Similarly, the human ortholog of PEX14 (Komori et al., 1997) has been identified and encodes another peroxisomal integral membrane protein able to bind both the PTS1 receptor and the PTS2 receptor (Albertini et al., 1997). </p>
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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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<span class="mim-text-font">
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<p>The yeast PEX7 gene (or PAS7), encoding the PTS2 receptor, was cloned in S. cerevisiae by Marzioch et al. (1994) and Zhang and Lazarow (1995). These investigators predicted the human ortholog to be the site of the mutation causing classic rhizomelic chondrodysplasia punctata (RCDP1; 215100) which is the peroxisome biogenesis disorder that belongs to CG11. In yeast, the PEX7 protein is a member of the WD40 family of proteins and interacts directly with the PTS2 sequence of peroxisomal thiolase or PTS2 reporter proteins. Mutant pex7 yeast has morphologically normal peroxisomes and normal PTS1 import but fails to import PTS2-targeted proteins (Marzioch et al., 1994; Zhang and Lazarow, 1995). Fibroblasts from RCDP type 1 patients have a peroxisomal import defect virtually identical to that of pex7 mutant yeast (Motley et al., 1994). </p><p>Peroxisomal biogenesis disorder CG11 (the second most numerous complementation group) includes patients with classic rhizomelic chondrodysplasia punctata. Compared to patients in the Zellweger syndrome spectrum, RCDP patients have a higher level of phytanic acid and a more profound deficiency of plasmalogens but normal levels of VLCFA. To identify the molecular defect of RCDP, Braverman et al. (1997) used a 'homology probing' strategy to probe the EST database; with the yeast PEX7 protein sequence they could identify candidate cDNAs for the human and murine PEX7 genes. They cloned a human homolog encoding a 323-amino acid protein and a mouse homolog encoding a 318-amino acid protein. The human polypeptide shares 91% and 33% amino acid identity with its murine and S. cerevisiae orthologs, respectively. Braverman et al. (1997) showed that expression of full-length human and murine PEX7 cDNAs restored PTS2-mediated import to RCDP fibroblasts and they identified functionally significant mutations in the PEX7 genes of RCDP patients, 1 of which (leu292 to ter; 601757.0001) accounts for about half of all RCDP mutant genes. As expected for a gene involved in the biogenesis of a ubiquitous organelle, they detected a 1.7-kb human PEX7 transcript in all tissues examined. In tissues with highest PEX7 expression (pancreas, skeletal muscle, and heart), a second transcript of approximately 1.5 kb was present in low abundance. The significance of this shorter transcript is unclear. Motley et al. (1997) cloned PEX7 based on its similarity to its yeast ortholog and stated that all RCDP patients in CG11 were found to contain mutations in PEX7. A PEX7 mutation (leu292 to ter) cosegregated with the disease, and expression of PEX7 in RCDP fibroblasts from CG11 corrected the PTS2 protein import deficiency. Purdue et al. (1997) likewise cloned the human ortholog of yeast PEX7 and demonstrated that the gene is defective in RCDP. </p>
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<div>
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<h4>
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<span class="mim-font">
|
|
<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>Braverman et al. (2000) demonstrated that the transcribed portion of the PEX7 gene is 102 kb and contains 10 exons varying from 57 to 482 bp. </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>Braverman et al. (1997) mapped the PEX7 gene to 6q22-q24 by probing a rodent/human hybrid mapping panel with a cDNA probe followed by regionalization with a radiation hybrid panel. </p><p>Gross (2014) mapped the PEX7 gene to chromosome 6q23.3 based on an alignment of the PEX7 sequence (GenBank BC006268) with the genomic sequence (GRCh37).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Rhizomelic Chondrodysplasia Punctata Type 1</em></strong></p><p>
|
|
Motley et al. (2002) reported the mutational spectrum in the PEX7 gene of 78 patients (including 5 pairs of sibs) clinically and biochemically diagnosed with RCDP type 1 (RCDP1; 215100). They found 22 different mutations, including 18 novel ones. Furthermore, they showed by functional analysis that disease severity correlated with PEX7 allele activity: expression of 8 different alleles from patients with severe RCDP failed to restore the targeting defect in RCDP fibroblasts, whereas 2 alleles found only in patients with mild disease complemented the targeting defect upon overexpression. Surprisingly, one of the mild alleles comprises a duplication of nucleotides 45-52 (601757.0005), which was predicted to lead to a frameshift at codon 17 and an absence of functional peroxin-7. The ability of this allele to complement the targeting defect in RCDP cells suggested that frame restoration occurs, resulting in full-length functional peroxin-7, which leads to amelioration of the predicted severe phenotype. This was confirmed in vitro by expression of the 8-nucleotide duplication-containing sequence fused in different reading frames to the coding sequence of firefly luciferase in COS cells. </p><p>Braverman et al. (2002) analyzed 60 probands with RCDP and identified 24 PEX7 alleles, accounting for 95% of the mutant PEX7 genes in their sample. Of these, 50% were L292X (601757.0001), 13% were IVS9+1G-C (601757.0006), and the remainder were mostly private mutations. IVS9+1G-C occurred on at least 3 different haplotypes and thus appeared to result from recurrent mutation. </p><p><strong><em>Peroxisome Biogenesis Disorder 9B</em></strong></p><p>
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|
A clinical phenotype indistinguishable from that of classic Refsum disease (266500), caused by mutation in the PHYH gene (602026), can be caused by mutation in the PEX7 gene; see PBD9B (614879) for a complete phenotypic description.</p><p>Braverman et al. (2002) and van den Brink et al. (2003) demonstrated mutations in the PEX7 gene (see, e.g., 601757.0007-601757.0011) in patients diagnosed with Refsum disease, an autosomal recessive disorder characterized by progressive adult retinitis pigmentosa, peripheral neuropathy, anosmia, and cerebellar ataxia, among other features. The onset of clinical symptoms in adolescence is due to gradual accumulation of phytanic acid. The peroxisomal enzyme phytanoyl-CoA hydroxylase (PHYH) catalyzes the first step of alpha-oxidation of phytanic acid. Biochemical analyses in Refsum patients reported by van den Brink et al. (2003) showed defects not only in phytanic acid alpha-oxidation, but also in plasmalogen synthesis and peroxisomal thiolase. These findings indicated that mutations in PEX7 may result in a broad clinical spectrum ranging from severe rhizomelic chondrodysplasia punctata to relatively mild Refsum disease, and that clinical diagnosis of conditions involving retinitis pigmentosa, ataxia, and polyneuropathy may require a full screen of peroxisomal functions. </p><p>Jansen et al. (2004) reviewed 5 sequence variants in the PEX7 gene causing a Refsum disease phenotype. </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>
|
|
<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
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</h4>
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|
</div>
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<span class="mim-text-font">
|
|
<p>Braverman et al. (2002) found the phenotypic spectrum of RCDP to be broader than previously recognized, as it includes minimally affected individuals at the mild end of the spectrum. To relate PEX7 genotype and phenotype, they evaluated the consequence of the disease mutation on PEX7 RNA by Northern analysis and RT-PCR. They evaluated the function of the encoded PEX7 protein by expressing selected alleles in fibroblasts from RCDP patients and assaying their ability to restore import of a PTS2 marker protein. Residual activity of the mutant protein and reduced amounts of normal PEX7 protein were associated with milder and variant phenotypes. </p>
|
|
</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<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>Brites et al. (2003) generated Pex7-knockout mice (Pex7 -/-), which were severely hypotonic at birth and exhibited growth impairment. Mortality was highest in the perinatal period, although some Pex7 -/- mice survived beyond 18 months. Biochemically, Pex7 -/- mice displayed a severe depletion of plasmalogens, impaired alpha-oxidation of phytanic acid, and impaired beta-oxidation of very long chain fatty acids. Pex7 -/- mice displayed increased neuronal density in parts of the cerebral cortex and had a delay in neuronal migration. Analysis of bone ossification in newborn Pex7 -/- mice revealed a defect in ossification of distal bone elements of the limbs as well as parts of the skull and vertebrae. </p>
|
|
</span>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>11 Selected Examples):</strong>
|
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</span>
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</h4>
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<div>
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<p />
|
|
</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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|
|
PEX7, LEU292TER
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<br />
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SNP: rs1805137,
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gnomAD: rs1805137,
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|
|
ClinVar: RCV000008222, RCV000339271, RCV000352824, RCV000380952, RCV000477898
|
|
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|
|
|
</span>
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|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 26 of 36 probands with rhizomelic chondrodysplasia punctata (RCDP1; 215100), Braverman et al. (1997) found a nonsense mutation, leu292 to ter (L292X). All these probands had a severe phenotype. The same mutation, resulting from an A-to-T transversion at nucleotide 875, was identified by Purdue et al. (1997) and Motley et al. (1997). Braverman et al. (1997) suggested that founder effect may account for the high frequency of L292X in northern Europeans; none of the 26 patients either heterozygous or homozygous for L292X were of African or Asian descent. </p><p>In a Chilean boy with a typical RCDP phenotype and an inversion of chromosome 8 reported by Castillo-Taucher et al. (1991), Shimozawa et al. (1999) found the L292X mutation in compound heterozygous state with A218V (601757.0002). The inversion was also present in the child's unaffected mother. </p><p>Motley et al. (2002) found the L292X mutation to be by far the most common mutation causing RCDP type 1, followed by the A218V missense mutation (601757.0002). In their large series, these 2 mutations were approximately 52% and 12%, respectively, which is similar to the frequencies of 49% and 6% reported by Braverman et al. (2000), who analyzed 36 patients with RCDP type 1. </p>
|
|
</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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
PEROXISOME BIOGENESIS DISORDER 9B, INCLUDED
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX7, ALA218VAL
|
|
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|
<br />
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|
|
SNP: rs121909151,
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|
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|
|
|
gnomAD: rs121909151,
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|
|
|
|
|
ClinVar: RCV000008223, RCV000032925, RCV000656252, RCV001831555, RCV002504768, RCV004732537
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Braverman et al. (1997) found an ala218-to-val (A218V) amino acid substitution in PEX7 in 3 probands with rhizomelic chondrodysplasia punctata (RCDP1; 215100), including 2 with a milder phenotype (PBD9B; 614879) than that in probands with the L292X mutation (601757.0001). The substitution resulted from a 653C-T transition. Motley et al. (1997) also detected this mutation in RCDP patients. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX7, GLY217ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909152,
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|
|
|
|
|
gnomAD: rs121909152,
|
|
|
|
|
|
ClinVar: RCV000008224, RCV000454287, RCV001509294, RCV001831556, RCV002512897, RCV005031421
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 probands with rhizomelic chondrodysplasia punctata (RCDP1; 215100), Braverman et al. (1997) found a gly217-to-arg (G217R) mutation resulting from a 649G-A transition in exon 7 of the PEX7 gene in compound heterozygosity with L292X (601757.0001). They also found 1 patient who was homozygous for the G217R mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX7, ARG232TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909153,
|
|
|
|
|
|
gnomAD: rs121909153,
|
|
|
|
|
|
ClinVar: RCV000008225, RCV000255604, RCV001064035, RCV001826452
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 7-year-old girl, the first Japanese individual to be diagnosed biochemically with rhizomelic chondrodysplasia punctata (RCDP1; 215100), Shimozawa et al. (1999) identified an arg232-to-ter (R232X) mutation in the PEX7 gene, which had been inherited from her consanguineous parents. This patient was previously reported by Suzuki et al. (1993) and had severe psychomotor retardation. The nonsense mutation deleted all of the last 2 WD40 repeats in the PEX7 gene and was sufficient to inactivate functions of the PEX7 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 PEROXISOME BIOGENESIS DISORDER 9B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX7, 8-BP DUP, NT45
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs63535662,
|
|
|
|
|
|
|
|
ClinVar: RCV000008226, RCV000032589
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 patients with a mild chondrodysplasia punctata phenotype with no rhizomelia (PBD9B; 614879), one from a Swiss family and the other from a French, Motley et al. (2002) detected homozygosity for an 8-nucleotide duplication of nucleotides 45-52 in the PEX7 cDNA (52dupGGGACGCC), predicted to result in frameshift at codon 17 in exon 1 of the PEX7 gene. Coexpression of the 8-bp dup allele with PTS2-tagged GFP in skin fibroblasts from a patient homozygous for a PEX7 null mutation resulted in partial restoration of PTS2-mediated peroxisomal protein import. Although the mutation was predicted to lead to absence of functional peroxin-7, the in vitro results suggested that frame restoration occurs. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX7, IVS9DS, G-C, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs148591292,
|
|
|
|
|
|
gnomAD: rs148591292,
|
|
|
|
|
|
ClinVar: RCV000008227, RCV000309699, RCV000388756, RCV000579182, RCV001027954, RCV005003344
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a study of 60 probands with rhizomelic chondrodysplasia punctata (RCDP1; 215100), Braverman et al. (2002) found 16 cases of the IVS9+1G-C splice site mutation, which occurred on at least 3 different haplotypes and thus appeared to result from recurrent mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 PEROXISOME BIOGENESIS DISORDER 9B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX7, TYR115TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909154,
|
|
|
|
|
|
gnomAD: rs121909154,
|
|
|
|
|
|
ClinVar: RCV000008228, RCV000411170, RCV001826453
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 58-year-old patient with a mild peroxisome biogenesis disorder (PBD9B; 614879), Braverman et al. (2002) found compound heterozygosity for 2 truncating mutations in the PEX7 gene: tyr115 to ter and IVS3-10A-G (601757.0008). This patient had been diagnosed with Refsum disease (266500) by Sigvald Refsum in 1948 (Horn et al., 2007). As mutations in the peroxisomal enzyme PAHX (602026) result in classic Refsum disease, Braverman et al. (2002) hypothesized that mutations in the other peroxisomal enzyme, PEX7, result in the accumulation of phytanic acid over time to produce the Refsum disease-like phenotype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 PEROXISOME BIOGENESIS DISORDER 9B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX7, IVS3, A-G, -10
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267608255,
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|
|
|
|
|
gnomAD: rs267608255,
|
|
|
|
|
|
ClinVar: RCV000008229, RCV000032116, RCV000393497, RCV000731239, RCV004814859, RCV005042014
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the PEX7 gene (IVS3-10A-G) that was found in compound heterozygous state in a patient with a mild peroxisome biogenesis disorder (PBD9B; 614879) by Braverman et al. (2002), see 601757.0007. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 PEROXISOME BIOGENESIS DISORDER 9B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX7, TYR40TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs61753238,
|
|
|
|
|
|
gnomAD: rs61753238,
|
|
|
|
|
|
ClinVar: RCV000008230, RCV000147254, RCV000324320, RCV000763558, RCV001826454, RCV002512898, RCV003137500, RCV005031422
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 probands with a mild peroxisome biogenesis disorder (PBD9B; 614879), van den Brink et al. (2003) found compound heterozygosity for a 120C-G transversion in the PEX7 gene, resulting in a tyr40-to-ter (Y40X) mutation. Both probands had received a clinical diagnosis of Refsum disease (266500). The Y40X mutation had previously been observed in patients with classic rhizomelic chondrodysplasia punctata type 1 (RCDP1; 215100) with a severe clinical presentation (Motley et al., 2002). The comparatively mild phenotype in the 2 probands reported by van den Brink et al. (2003) seemed attributable to the presence of a second mutation associated with residual activity of the gene product. This was a 7-bp duplication of nucleotides 12-18, predicted to cause a frameshift leading to a premature termination codon at amino acid position 57 (601757.0010) in the first patient, and a thr14-to-pro amino acid substitution (T14P; 601757.0011) in the other. In the first family, clinical features included onset in the first and second decades of retinitis pigmentosa, anosmia, short fifth metacarpal and palmar ichthyosis, pes cavus, musculature weakness, and nerve hypertrophy. One patient was mildly affected. The proband of the second family was born with bilateral cataracts, but presented to a neurology clinic at age 20 years with polyneuritis and onset of ataxia at age 19 years. She had bilateral short fifth metacarpals and metatarsals, and mild retinitis pigmentosa. Her brother presented at age 34 years with mild ataxia and mild retinitis pigmentosa but no night blindness, obvious anosmia, or deafness. Neither patient had any episodes of ichthyosis or signs of deafness. One other male sib died of supposed poliomyelitis with symptoms of weakness and ataxia at age 12 years. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0010 PEROXISOME BIOGENESIS DISORDER 9B</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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PEX7, 7-BP DUP, NT12
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<br />
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SNP: rs62636519,
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ClinVar: RCV000008232, RCV000411594, RCV001828372
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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>For discussion of the 7-bp duplication in the PEX7 gene that was found in compound heterozygous state in a patient with a mild peroxisome biogenesis disorder (PBD9B; 614879) by van den Brink et al. (2003), see 601757.0009. </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>.0011 PEROXISOME BIOGENESIS DISORDER 9B</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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PEX7, THR14PRO
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<br />
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SNP: rs61753233,
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ClinVar: RCV000008233, RCV000032117, RCV005031423
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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>For discussion of the thr14-to-pro (T14P) mutation in the PEX7 gene that was found in compound heterozygous state in a patient with a mild peroxisome biogenesis disorder (PBD9B; 614879) by van den Brink et al. (2003), see 601757.0009. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Albertini, M., Rehling, P., Erdmann, R., Girzalsky, W., Kiel, J. A. K. W., Veenhuis, M., Hunau, W.-H.
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<strong>Pex14p, a peroxisomal membrane protein binding both receptors of the two PTS-dependent import pathways.</strong>
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Cell 89: 83-92, 1997.
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[PubMed: 9094717]
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[Full Text: https://doi.org/10.1016/s0092-8674(00)80185-3]
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<p class="mim-text-font">
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Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., Moser, H., Valle, D.
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<strong>Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.</strong>
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Hum. Mutat. 20: 284-297, 2002.
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Braverman, N., Steel, G., Lin, P., Moser, A., Moser, H., Valle, D.
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<strong>PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.</strong>
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Genomics 63: 181-192, 2000.
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Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D.
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<strong>Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.</strong>
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Brites, P., Motley, A. M., Gressens, P., Mooyer, P. A. W., Ploegaert, I., Everts, V., Evrard, P., Carmeliet, P., Dewerchin, M., Schoonjans, L., Duran, M., Waterham, H. R., Wanders, R. J. A., Baes, M.
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<strong>Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.</strong>
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Castillo-Taucher, S., Beca, J. P., Saez, R., Geldres, V.
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<strong>Balanced pericentric inversion 8 (p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother. (Letter)</strong>
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Clin. Genet. 40: 247-248, 1991.
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[PubMed: 1773541]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1991.tb03086.x]
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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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Distel, B., Erdmann, R., Gould, S. J., Blobel, G., Crane, D. I., Cregg, J. M., Dodt, G., Fujiki, Y., Goodman, J. M., Just, W. W., Kiel, J. A. K. W., Kunau, W.-H., and 13 others.
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<strong>A unified nomenclature for peroxisome biogenesis factors.</strong>
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J. Cell Biol. 135: 1-3, 1996.
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[PubMed: 8858157]
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|
|
[Full Text: https://doi.org/10.1083/jcb.135.1.1]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
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 the Saccharomyces cerevisiae peroxisomal membrane protein Pex13p functions as a docking site for Pex5p, a mobile receptor for the import 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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<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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<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.
|
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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>
|
|
J. Cell Biol. 135: 85-95, 1996.
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|
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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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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 3/19/2014.
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</p>
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<p class="mim-text-font">
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Horn, M. A., van den Brink, D. M., Wanders, R. J. A., Duran, M., Poll-The, B. T., Tallaksen, C. M. E., Stokke, O. H., Moser, H., Skjeldal, O. H.
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<strong>Phenotype of adult Refsum disease due to a defect in peroxin 7.</strong>
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Neurology 68: 698-700, 2007.
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[PubMed: 17325280]
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[Full Text: https://doi.org/10.1212/01.wnl.0000255960.01644.39]
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</p>
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<p class="mim-text-font">
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Jansen, G. A., Waterham, H. R., Wanders, R. J. A.
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<strong>Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).</strong>
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Hum. Mutat. 23: 209-218, 2004.
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[PubMed: 14974078]
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[Full Text: https://doi.org/10.1002/humu.10315]
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<p class="mim-text-font">
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Komori, M., Rasmussen, S. W., Kiel, J. A. K .W., Baerends, J. S., Cregg, J. M., van der Klei, I. J., Veenhuis, M.
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<strong>The Hansenula polymorpha PEX14 gene encodes a novel peroxisomal membrane protein essential for peroxisome biogenesis.</strong>
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EMBO J. 16: 44-53, 1997.
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[PubMed: 9009266]
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<p class="mim-text-font">
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|
Marzioch, M., Erdmann, R., Veenhuis, M., Kunau, W. H.
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<strong>PAS7 encodes a novel yeast member of the WD-40 protein family essential for import of 3-oxoacyl-CoA thiolase, a PTS2-containing protein, into peroxisomes.</strong>
|
|
EMBO J. 13: 4908-4918, 1994.
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[PubMed: 7957058]
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<p class="mim-text-font">
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Motley, A., Hettema, E., Distel, B., Tabak, H.
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<strong>Differential protein import deficiencies in human peroxisome assembly disorders.</strong>
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[PubMed: 7910611]
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[Full Text: https://doi.org/10.1083/jcb.125.4.755]
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</p>
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<li>
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<p class="mim-text-font">
|
|
Motley, A. M., Brites, P., Gerez, L., Hogenhout, E., Haasjes, J., Benne, R., Tabak, H. F., Wanders, R. J. A., Waterham, H. R.
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<strong>Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.</strong>
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Am. J. Hum. Genet. 70: 612-624, 2002.
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[PubMed: 11781871]
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[Full Text: https://doi.org/10.1086/338998]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Motley, A. M., Hettema, E. H., Hogenhout, E. M., Brites, P., ten Asbroek, A. L. M. A., Wijburg, F. A., Baas, F., Heijmans, H. S., Tabak, H. F., Wanders, R. J. A., Distel, B.
|
|
<strong>Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.</strong>
|
|
Nature Genet. 15: 377-380, 1997.
|
|
|
|
|
|
[PubMed: 9090382]
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|
|
[Full Text: https://doi.org/10.1038/ng0497-377]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Purdue, P. E., Zhang, J. W., Skoneczny, M., Lararow, P. B.
|
|
<strong>Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.</strong>
|
|
Nature Genet. 15: 381-384, 1997.
|
|
|
|
|
|
[PubMed: 9090383]
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|
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|
|
[Full Text: https://doi.org/10.1038/ng0497-381]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Shimozawa, N., Suzuki, Y., Zhang, Z., Miura, K., Matsumoto, A., Nagaya, M., Castillo-Taucher, S., Kondo, N.
|
|
<strong>A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.</strong>
|
|
J. Hum. Genet. 44: 123-125, 1999.
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|
|
|
|
[PubMed: 10083738]
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|
[Full Text: https://doi.org/10.1007/s100380050123]
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|
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</p>
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|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Subramani, S.
|
|
<strong>Protein import into peroxisomes and biogenesis of the organelle.</strong>
|
|
Annu. Rev. Cell Biol. 9: 445-478, 1993.
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|
|
|
|
[PubMed: 8280468]
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|
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|
|
[Full Text: https://doi.org/10.1146/annurev.cb.09.110193.002305]
|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Suzuki, Y., Shimozawa, N., Izai, K., Uchida, Y., Miura, K., Akatsuka, H., Nagaya, M., Yamaguchi, S., Orii, T.
|
|
<strong>Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata.</strong>
|
|
J. Inherit. Metab. Dis. 16: 868-871, 1993.
|
|
|
|
|
|
[PubMed: 8295403]
|
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|
|
[Full Text: https://doi.org/10.1007/BF00714280]
|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Swinkels, B. W., Gould, S. J., Bodnar, A. G., Rachubinski, R. A., Subramani, S.
|
|
<strong>A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase.</strong>
|
|
EMBO J. 10: 3255-3262, 1991.
|
|
|
|
|
|
[PubMed: 1680677]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/j.1460-2075.1991.tb04889.x]
|
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|
|
</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G. A., Waterham, H. R., Wanders, R. J. A.
|
|
<strong>Identification of PEX7 as the second gene involved in Refsum disease.</strong>
|
|
Am. J. Hum. Genet. 72: 471-477, 2003.
|
|
|
|
|
|
[PubMed: 12522768]
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|
|
[Full Text: https://doi.org/10.1086/346093]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Zhang, J. W., Lazarow, P. B.
|
|
<strong>PEB1 (PAS7) in Saccharomyces cerevisiae encodes a hydrophilic, intra-peroxisomal protein that is a member of the WD repeat family and is essential for the import of thiolase into peroxisomes.</strong>
|
|
J. Cell Biol. 129: 65-80, 1995.
|
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|
|
|
|
[PubMed: 7535304]
|
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[Full Text: https://doi.org/10.1083/jcb.129.1.65]
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Matthew B. Gross - updated : 3/19/2014<br>George E. Tiller - updated : 9/9/2005<br>Victor A. McKusick - updated : 4/7/2004<br>Victor A. McKusick - updated : 2/27/2003<br>Victor A. McKusick - updated : 11/21/2002<br>Anne M. Stumpf - updated : 11/6/2002<br>Victor A. McKusick - updated : 11/1/2002<br>Victor A. McKusick - updated : 3/21/2002<br>Victor A. McKusick - updated : 4/12/1999<br>David Valle - updated : 5/5/1997
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Victor A. McKusick : 4/15/1997
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