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Entry
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- *603360 - PEROXISOME BIOGENESIS FACTOR 16; PEX16
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- OMIM
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<p>
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<span class="h4">*603360</span>
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<br />
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<strong>Table of Contents</strong>
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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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<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="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603360">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=9409" 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=603360" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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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=ENSG00000121680;t=ENST00000378750" 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_004813,NM_057174,XM_047427886,XM_047427887,XM_047427888" 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_004813" 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=603360" 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 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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<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=04526&isoform_id=04526_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/PEX16" 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/4545264,6681658,12653395,13279320,119588428,119588429,119588430,332278135,1812229404,1844084129,2217285597,2217285599,2217285601,2462528833,2462528835" 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/Q9Y5Y5" 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 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=9409" 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=ENSG00000121680;t=ENST00000378750" 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=PEX16" 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=PEX16" 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+9409" 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/PEX16" 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:9409" 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/9409" 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=chr11&hgg_gene=ENST00000378750.10&hgg_start=45909663&hgg_end=45918822&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</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:8857" 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:8857" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603360[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=603360[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/ENSG00000121680" 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=PEX16" 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=PEX16" 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=PEX16" 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=PEX16&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/PA33199" 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:8857" 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/FBgn0037019.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:1338829" 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/PEX16#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:1338829" 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/9409/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=9409" 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-050626-49" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
|
<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:603360" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9409" 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=PEX16&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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603360
|
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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 16; PEX16
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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 16
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PEX16" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PEX16</a></em></strong>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/11/339?start=-3&limit=10&highlight=339">11p11.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:45909663-45918822&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'})">11:45,909,663-45,918,822</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
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|
|
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</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614876,614877" 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/11/339?start=-3&limit=10&highlight=339">
|
|
11p11.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Peroxisome biogenesis disorder 8A (Zellweger)
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614876"> 614876 </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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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Peroxisome biogenesis disorder 8B
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614877"> 614877 </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><a href="#3" class="mim-tip-reference" title="Honsho, M., Tamura, S., Shimozawa, N., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.</strong> Am. J. Hum. Genet. 63: 1622-1630, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837814</a>] [<a href="https://doi.org/10.1086/302161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9837814">Honsho et al. (1998)</a> isolated a human PEX16 cDNA by performing an expressed sequence tag (EST) homology search on a human DNA database and by using yeast PEX16 from Yarrowia lipolytica to screen a human liver cDNA library. This cDNA was found to encode a peroxisomal protein, peroxin 16, that contains 336 amino acids. Among 13 peroxisome-deficiency complementation groups, PEX16 expression morphologically and biochemically restored peroxisome biogenesis only in fibroblasts from a case of Zellweger syndrome of the complementation group referred to as CGD in Japan and CG9 in the United States. PEX16 was localized to peroxisomes through expression study of epitope-labeled PEX16 protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9837814" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="South, S. T., Gould, S. J. <strong>Peroxisome synthesis in the absence of preexisting peroxisomes.</strong> J. Cell. Biol. 144: 255-266, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9922452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9922452</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9922452[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/10.1083/jcb.144.2.255" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9922452">South and Gould (1999)</a> characterized wildtype PEX16 and found that it has an apparent molecular mass of about 38 kD by SDS/PAGE. Sequence analysis revealed 2 transmembrane domains, 1 spanning amino acids 110-144 and another spanning amino acids 222-243. Protease protection experiments revealed a membrane orientation where the N- and C-termini extend into the cytoplasm and the intermembrane loop is protected within the peroxisome lumen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9922452" 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="South, S. T., Gould, S. J. <strong>Peroxisome synthesis in the absence of preexisting peroxisomes.</strong> J. Cell. Biol. 144: 255-266, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9922452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9922452</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9922452[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/10.1083/jcb.144.2.255" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9922452">South and Gould (1999)</a> found that fibroblasts from the patient carrying the R176X mutation (<a href="#0001">603360.0001</a>) were unable to import PMP70 (<a href="/entry/170995">170995</a>) into peroxisomes. Transfection and overexpression of wildtype PEX16 did not induce peroxisome proliferation, but restored PMP70 import. The authors concluded that PEX16-mediated formation of peroxisomes does not require the division of preexisting peroxisomes. By characterizing various truncation mutants, <a href="#2" class="mim-tip-reference" title="Honsho, M., Hiroshige, T., Fujiki, Y. <strong>The membrane biogenesis peroxin Pex16p: topogenesis and functional roles in peroxisomal membrane assembly.</strong> J. Biol. Chem. 277: 44513-44524, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12223482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12223482</a>] [<a href="https://doi.org/10.1074/jbc.M206139200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12223482">Honsho et al. (2002)</a> determined that a positively charged region (amino acids 66-81) and the first transmembrane domain are required for peroxisome targeting of PEX16. The C-terminal cytoplasmically exposed region of PEX16 functioned in peroxisome formation. Transfection and overexpression of the R176X mutation interfered with membrane protein transport. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9922452+12223482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Sugiura, A., Mattie, S., Prudent, J., McBride, H. M. <strong>Newly born peroxisomes are a hybrid of mitochondrial and ER-derived pre-peroxisomes.</strong> Nature 542: 251-254, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28146471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28146471</a>] [<a href="https://doi.org/10.1038/nature21375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28146471">Sugiura et al. (2017)</a> followed the generation of new peroxisomes within human patient fibroblasts lacking peroxisomes and showed that the essential import receptors Pex3 (<a href="/entry/603164">603164</a>) and Pex14 (<a href="/entry/601791">601791</a>) target mitochondria, where they are selectively released into vesicular pre-peroxisomal structures. Maturation of pre-peroxisomes containing Pex3 and Pex14 requires fusion with endoplasmic reticulum-derived vesicles carrying Pex16, thereby providing full import competence. <a href="#6" class="mim-tip-reference" title="Sugiura, A., Mattie, S., Prudent, J., McBride, H. M. <strong>Newly born peroxisomes are a hybrid of mitochondrial and ER-derived pre-peroxisomes.</strong> Nature 542: 251-254, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28146471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28146471</a>] [<a href="https://doi.org/10.1038/nature21375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28146471">Sugiura et al. (2017)</a> concluded that their findings demonstrated the hybrid nature of newly born peroxisomes, expanding their functional links to mitochondria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28146471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the study by <a href="#3" class="mim-tip-reference" title="Honsho, M., Tamura, S., Shimozawa, N., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.</strong> Am. J. Hum. Genet. 63: 1622-1630, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837814</a>] [<a href="https://doi.org/10.1086/302161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9837814">Honsho et al. (1998)</a>, one patient with a peroxisomal biogenesis disorder was found to have a homozygous nonsense mutation (<a href="#0001">603360.0001</a>) in the PEX16 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9837814" 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 6 patients, including 2 sibs, with a relatively mild form of Zellweger syndrome characterized by early-childhood onset of progressive spastic paraparesis and ataxia with progressive leukodystrophy and brain atrophy on brain MRI, <a href="#1" class="mim-tip-reference" title="Ebberink, M. S., Csanyi, B., Chong, W. K., Denis, S., Sharp, P., Mooijer, P. A. W., Dekker, C. J. M., Spooner, C., Ngu, L. H., De Sousa, C., Wanders, R. J. A., Fietz, M. J., Clayton, P. T., Waterham, H. R., Ferdinandusse, S. <strong>Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.</strong> J. Med. Genet. 47: 608-615, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20647552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20647552</a>] [<a href="https://doi.org/10.1136/jmg.2009.074302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20647552">Ebberink et al. (2010)</a> identified 5 different homozygous mutations in the PEX16 gene (see, e.g., <a href="#0003">603360.0003</a>-<a href="#0005">603360.0005</a>). Studies of skin fibroblasts showed that peroxisomes were markedly enlarged in size and reduced in number compared to controls. However, biochemical studies showed only mild abnormalities, such as increased very-long-chain fatty acids, and increased bile acid intermediates or increased branched chain fatty acids in some. Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen were normal. Peroxisomal enzymes were normal, and the peroxisomes were import-competent. Expression of wildtype PEX16 restored the number and size of peroxisomes in patient fibroblasts to normal. Expression of mutant PEX16 in PEX16-null cells resulted in enlarged peroxisomes in about 30% of cells, indicating some residual activity. <a href="#1" class="mim-tip-reference" title="Ebberink, M. S., Csanyi, B., Chong, W. K., Denis, S., Sharp, P., Mooijer, P. A. W., Dekker, C. J. M., Spooner, C., Ngu, L. H., De Sousa, C., Wanders, R. J. A., Fietz, M. J., Clayton, P. T., Waterham, H. R., Ferdinandusse, S. <strong>Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.</strong> J. Med. Genet. 47: 608-615, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20647552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20647552</a>] [<a href="https://doi.org/10.1136/jmg.2009.074302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20647552">Ebberink et al. (2010)</a> emphasized that even though PEX16 is involved in peroxisomal membrane assembly, PEX16 defects can present with a relatively mild phenotype showing import-competent peroxisomes in fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20647552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In fibroblasts from a patient with Zellweger syndrome of complementation group D (PBD8A; <a href="/entry/614876">614876</a>), purchased from the NIGMS Human Genetic Mutant Cell Repository (<a href="https://catalog.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM06231&Product=CC" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'CCR\', \'domain\': \'ccr.coriell.org\'})">GM06231</a>), <a href="#3" class="mim-tip-reference" title="Honsho, M., Tamura, S., Shimozawa, N., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.</strong> Am. J. Hum. Genet. 63: 1622-1630, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837814</a>] [<a href="https://doi.org/10.1086/302161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9837814">Honsho et al. (1998)</a> demonstrated deficiency of peroxin-16 and a nonsense mutation in the PEX16 gene: a C-to-T transition at nucleotide 526, resulting in a change of codon 176 from CGA (arg) to TGA (stop). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9837814" 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> rs267608185 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267608185;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/rs267608185?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=rs267608185" 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=rs267608185" 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=RCV000006839" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006839" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006839</a>
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<p><a href="#4" class="mim-tip-reference" title="Shimozawa, N., Nagase, T., Takemoto, Y., Suzuki, Y., Fujiki, Y., Wanders, R. J. A., Kondo, N. <strong>A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome.</strong> Biochem. Biophys. Res. Commun. 292: 109-112, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11890679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11890679</a>] [<a href="https://doi.org/10.1006/bbrc.2002.6642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11890679">Shimozawa et al. (2002)</a> identified a homozygous splice site mutation (IVS10+2T-C) in 2 complementation group D patients (PBD8A; <a href="/entry/614876">614876</a>), causing exon 10 deletion and changing the amino acid sequence starting from codon 298, introducing a termination codon at position 336. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11890679" 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>.0003 PEROXISOME BIOGENESIS DISORDER 8B</strong>
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PEX16, 1-BP DEL, 984G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1590793006 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1590793006;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=rs1590793006" 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=rs1590793006" 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=RCV000023293" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023293" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023293</a>
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<p>In 2 sibs, born of consanguineous Turkish parents, with a peroxisomal biogenesis disorder (PBD8B; <a href="/entry/614877">614877</a>), <a href="#1" class="mim-tip-reference" title="Ebberink, M. S., Csanyi, B., Chong, W. K., Denis, S., Sharp, P., Mooijer, P. A. W., Dekker, C. J. M., Spooner, C., Ngu, L. H., De Sousa, C., Wanders, R. J. A., Fietz, M. J., Clayton, P. T., Waterham, H. R., Ferdinandusse, S. <strong>Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.</strong> J. Med. Genet. 47: 608-615, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20647552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20647552</a>] [<a href="https://doi.org/10.1136/jmg.2009.074302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20647552">Ebberink et al. (2010)</a> identified a homozygous 1-bp deletion (984delG) in exon 11a of the PEX16 gene, resulting in a frameshift and premature protein truncation. Exon 11b was unaffected. Both patients presented between age 1 and 2 years with delayed walking and frequent falls after normal initial development. The disorder was progressive, characterized by lower limb spasticity and ataxia resulting in wheelchair-dependence in the first decade. Studies of skin fibroblasts showed that peroxisomes were markedly enlarged in size and reduced in number compared to controls. However, biochemical studies showed only mild abnormalities, such as increased very-long-chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids (only found in 1 sib). Expression of wildtype PEX16 restored the number and size of peroxisomes in patient fibroblasts to normal. <a href="#1" class="mim-tip-reference" title="Ebberink, M. S., Csanyi, B., Chong, W. K., Denis, S., Sharp, P., Mooijer, P. A. W., Dekker, C. J. M., Spooner, C., Ngu, L. H., De Sousa, C., Wanders, R. J. A., Fietz, M. J., Clayton, P. T., Waterham, H. R., Ferdinandusse, S. <strong>Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.</strong> J. Med. Genet. 47: 608-615, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20647552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20647552</a>] [<a href="https://doi.org/10.1136/jmg.2009.074302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20647552">Ebberink et al. (2010)</a> emphasized that even though PEX16 is involved in peroxisomal membrane assembly, PEX16 defects can present with a relatively mild phenotype showing import-competent peroxisomes in fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20647552" 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">rs397514472 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514472;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=rs397514472" 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=rs397514472" 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=RCV000023295" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023295" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023295</a>
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<p>In a girl with a relatively mild type of peroxisomal biogenesis disorder (PBD8B; <a href="/entry/614877">614877</a>), <a href="#1" class="mim-tip-reference" title="Ebberink, M. S., Csanyi, B., Chong, W. K., Denis, S., Sharp, P., Mooijer, P. A. W., Dekker, C. J. M., Spooner, C., Ngu, L. H., De Sousa, C., Wanders, R. J. A., Fietz, M. J., Clayton, P. T., Waterham, H. R., Ferdinandusse, S. <strong>Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.</strong> J. Med. Genet. 47: 608-615, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20647552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20647552</a>] [<a href="https://doi.org/10.1136/jmg.2009.074302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20647552">Ebberink et al. (2010)</a> identified a homozygous 992A-G transition in exon 11a of the PEX16 gene, resulting in a tyr331-to-cys (Y331C) substitution. She developed an ataxic gait at age 2 years, after normal initial development except for delayed walking. At age 6 years, she had mild cognitive impairment, moderate dysarthria, and abnormal eye saccades. Brain MRI showed widespread white matter changes on a background pattern of global delay in myelin maturation, and reduced cerebellar volume. Similar MRI findings were observed in her younger sister. Studies of skin fibroblasts showed that peroxisomes were markedly enlarged in size and reduced in number compared to controls. However, biochemical studies showed only mild abnormalities, such as increased VLCFA, but most other peroxisomal functions appeared normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20647552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 PEROXISOME BIOGENESIS DISORDER 8B</strong>
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PEX16, DEL, EX11
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023297" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023297" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023297</a>
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<p>In an Indian girl, born of consanguineous parents, with a relatively mild type of peroxisomal biogenesis disorder (PBD8B; <a href="/entry/614877">614877</a>), <a href="#1" class="mim-tip-reference" title="Ebberink, M. S., Csanyi, B., Chong, W. K., Denis, S., Sharp, P., Mooijer, P. A. W., Dekker, C. J. M., Spooner, C., Ngu, L. H., De Sousa, C., Wanders, R. J. A., Fietz, M. J., Clayton, P. T., Waterham, H. R., Ferdinandusse, S. <strong>Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.</strong> J. Med. Genet. 47: 608-615, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20647552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20647552</a>] [<a href="https://doi.org/10.1136/jmg.2009.074302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20647552">Ebberink et al. (2010)</a> identified a homozygous large intragenic deletion of intron 10 and exon 11 of the PEX16 gene. In transcript variant 1, the deletion affected the last 468 base pairs of intron 10, the entire exon 11a, and the first 80 base pairs of the 3-prime flanking region of exon 11a. In transcript variant 2, the deletion affected the last 603 base pairs of intron 10, and the first 4 base pairs of exon 11b. The deletion resulted in 3 alternative splice products. She showed normal development for the first year of life, but then stopped acquiring new skills, and lost her ability to walk independently at age 24 months due to spasticity and mild ataxia. Her speech and other cognitive functions also deteriorated slowly over time. At the age of 5 years, she had nystagmus, cataracts, hyperreflexia, clonus, and extensor plantar responses. Brain imaging showed diffuse white matter abnormalities and focal atrophy of the cerebellum and corpus callosum. Peripheral nerve velocity studies of the lower limbs suggested demyelination. Studies of skin fibroblasts showed that the peroxisomes were markedly enlarged in size and reduced in number compared to controls. However, biochemical studies showed only mild abnormalities, such as increased VLCFA, but most other peroxisomal functions appeared normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20647552" 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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Ebberink, M. S., Csanyi, B., Chong, W. K., Denis, S., Sharp, P., Mooijer, P. A. W., Dekker, C. J. M., Spooner, C., Ngu, L. H., De Sousa, C., Wanders, R. J. A., Fietz, M. J., Clayton, P. T., Waterham, H. R., Ferdinandusse, S.
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<strong>Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.</strong>
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J. Med. Genet. 47: 608-615, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20647552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20647552</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20647552" 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/10.1136/jmg.2009.074302" target="_blank">Full Text</a>]
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Honsho, M., Hiroshige, T., Fujiki, Y.
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<strong>The membrane biogenesis peroxin Pex16p: topogenesis and functional roles in peroxisomal membrane assembly.</strong>
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J. Biol. Chem. 277: 44513-44524, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12223482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12223482</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12223482" 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/10.1074/jbc.M206139200" target="_blank">Full Text</a>]
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Honsho, M., Tamura, S., Shimozawa, N., Suzuki, Y., Kondo, N., Fujiki, Y.
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<strong>Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.</strong>
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Am. J. Hum. Genet. 63: 1622-1630, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837814</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9837814" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Shimozawa2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shimozawa, N., Nagase, T., Takemoto, Y., Suzuki, Y., Fujiki, Y., Wanders, R. J. A., Kondo, N.
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<strong>A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome.</strong>
|
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Biochem. Biophys. Res. Commun. 292: 109-112, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11890679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11890679</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11890679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.2002.6642" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="South1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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South, S. T., Gould, S. J.
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<strong>Peroxisome synthesis in the absence of preexisting peroxisomes.</strong>
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J. Cell. Biol. 144: 255-266, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9922452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9922452</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9922452[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=9922452" 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.144.2.255" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Sugiura2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sugiura, A., Mattie, S., Prudent, J., McBride, H. M.
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<strong>Newly born peroxisomes are a hybrid of mitochondrial and ER-derived pre-peroxisomes.</strong>
|
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Nature 542: 251-254, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28146471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28146471</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28146471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature21375" target="_blank">Full Text</a>]
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</p>
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<a id="contributors" class="mim-anchor"></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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Ada Hamosh - updated : 09/10/2019
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 12/21/2010<br>Patricia A. Hartz - updated : 1/16/2003
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 12/15/1998
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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 09/10/2019
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 10/25/2012<br>alopez : 10/24/2012<br>wwang : 1/4/2011<br>ckniffin : 12/21/2010<br>tkritzer : 7/20/2004<br>carol : 3/17/2004<br>carol : 11/11/2003<br>cwells : 1/21/2003<br>terry : 1/16/2003<br>mgross : 4/12/1999<br>mgross : 4/7/1999<br>mgross : 3/16/1999<br>carol : 12/15/1998
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</span>
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<div class="container visible-print-block">
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<span class="mim-font">
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<strong>*</strong> 603360
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<div>
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<h3>
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PEROXISOME BIOGENESIS FACTOR 16; PEX16
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</h3>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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PEROXIN 16
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PEX16</em></strong>
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</span>
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<strong>
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<em>
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Cytogenetic location: 11p11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:45,909,663-45,918,822 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<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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<thead>
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Location
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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<td rowspan="2">
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<span class="mim-font">
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11p11.2
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</td>
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<td>
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<span class="mim-font">
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Peroxisome biogenesis disorder 8A (Zellweger)
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<td>
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<span class="mim-font">
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614876
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<td>
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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Peroxisome biogenesis disorder 8B
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</td>
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<span class="mim-font">
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614877
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<td>
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<span class="mim-font">
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Autosomal recessive
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</td>
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<td>
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<span class="mim-font">
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3
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Honsho et al. (1998) isolated a human PEX16 cDNA by performing an expressed sequence tag (EST) homology search on a human DNA database and by using yeast PEX16 from Yarrowia lipolytica to screen a human liver cDNA library. This cDNA was found to encode a peroxisomal protein, peroxin 16, that contains 336 amino acids. Among 13 peroxisome-deficiency complementation groups, PEX16 expression morphologically and biochemically restored peroxisome biogenesis only in fibroblasts from a case of Zellweger syndrome of the complementation group referred to as CGD in Japan and CG9 in the United States. PEX16 was localized to peroxisomes through expression study of epitope-labeled PEX16 protein. </p><p>South and Gould (1999) characterized wildtype PEX16 and found that it has an apparent molecular mass of about 38 kD by SDS/PAGE. Sequence analysis revealed 2 transmembrane domains, 1 spanning amino acids 110-144 and another spanning amino acids 222-243. Protease protection experiments revealed a membrane orientation where the N- and C-termini extend into the cytoplasm and the intermembrane loop is protected within the peroxisome lumen. </p>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>South and Gould (1999) found that fibroblasts from the patient carrying the R176X mutation (603360.0001) were unable to import PMP70 (170995) into peroxisomes. Transfection and overexpression of wildtype PEX16 did not induce peroxisome proliferation, but restored PMP70 import. The authors concluded that PEX16-mediated formation of peroxisomes does not require the division of preexisting peroxisomes. By characterizing various truncation mutants, Honsho et al. (2002) determined that a positively charged region (amino acids 66-81) and the first transmembrane domain are required for peroxisome targeting of PEX16. The C-terminal cytoplasmically exposed region of PEX16 functioned in peroxisome formation. Transfection and overexpression of the R176X mutation interfered with membrane protein transport. </p><p>Sugiura et al. (2017) followed the generation of new peroxisomes within human patient fibroblasts lacking peroxisomes and showed that the essential import receptors Pex3 (603164) and Pex14 (601791) target mitochondria, where they are selectively released into vesicular pre-peroxisomal structures. Maturation of pre-peroxisomes containing Pex3 and Pex14 requires fusion with endoplasmic reticulum-derived vesicles carrying Pex16, thereby providing full import competence. Sugiura et al. (2017) concluded that their findings demonstrated the hybrid nature of newly born peroxisomes, expanding their functional links to mitochondria. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In the study by Honsho et al. (1998), one patient with a peroxisomal biogenesis disorder was found to have a homozygous nonsense mutation (603360.0001) in the PEX16 gene. </p><p>In 6 patients, including 2 sibs, with a relatively mild form of Zellweger syndrome characterized by early-childhood onset of progressive spastic paraparesis and ataxia with progressive leukodystrophy and brain atrophy on brain MRI, Ebberink et al. (2010) identified 5 different homozygous mutations in the PEX16 gene (see, e.g., 603360.0003-603360.0005). Studies of skin fibroblasts showed that peroxisomes were markedly enlarged in size and reduced in number compared to controls. However, biochemical studies showed only mild abnormalities, such as increased very-long-chain fatty acids, and increased bile acid intermediates or increased branched chain fatty acids in some. Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen were normal. Peroxisomal enzymes were normal, and the peroxisomes were import-competent. Expression of wildtype PEX16 restored the number and size of peroxisomes in patient fibroblasts to normal. Expression of mutant PEX16 in PEX16-null cells resulted in enlarged peroxisomes in about 30% of cells, indicating some residual activity. Ebberink et al. (2010) emphasized that even though PEX16 is involved in peroxisomal membrane assembly, PEX16 defects can present with a relatively mild phenotype showing import-competent peroxisomes in fibroblasts. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
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<strong>5 Selected Examples):</strong>
|
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</span>
|
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</h4>
|
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0001 PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PEX16, ARG176TER
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<br />
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SNP: rs61752117,
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gnomAD: rs61752117,
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ClinVar: RCV000006837, RCV000431832, RCV001851705
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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 fibroblasts from a patient with Zellweger syndrome of complementation group D (PBD8A; 614876), purchased from the NIGMS Human Genetic Mutant Cell Repository (GM06231), Honsho et al. (1998) demonstrated deficiency of peroxin-16 and a nonsense mutation in the PEX16 gene: a C-to-T transition at nucleotide 526, resulting in a change of codon 176 from CGA (arg) to TGA (stop). </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)</strong>
|
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</span>
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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PEX16, IVSDS10, T-C, +2
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<br />
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SNP: rs267608185,
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gnomAD: rs267608185,
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ClinVar: RCV000006839
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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>Shimozawa et al. (2002) identified a homozygous splice site mutation (IVS10+2T-C) in 2 complementation group D patients (PBD8A; 614876), causing exon 10 deletion and changing the amino acid sequence starting from codon 298, introducing a termination codon at position 336. </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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<span class="mim-font">
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<strong>.0003 PEROXISOME BIOGENESIS DISORDER 8B</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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PEX16, 1-BP DEL, 984G
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<br />
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SNP: rs1590793006,
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ClinVar: RCV000023293
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<p>In 2 sibs, born of consanguineous Turkish parents, with a peroxisomal biogenesis disorder (PBD8B; 614877), Ebberink et al. (2010) identified a homozygous 1-bp deletion (984delG) in exon 11a of the PEX16 gene, resulting in a frameshift and premature protein truncation. Exon 11b was unaffected. Both patients presented between age 1 and 2 years with delayed walking and frequent falls after normal initial development. The disorder was progressive, characterized by lower limb spasticity and ataxia resulting in wheelchair-dependence in the first decade. Studies of skin fibroblasts showed that peroxisomes were markedly enlarged in size and reduced in number compared to controls. However, biochemical studies showed only mild abnormalities, such as increased very-long-chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids (only found in 1 sib). Expression of wildtype PEX16 restored the number and size of peroxisomes in patient fibroblasts to normal. Ebberink et al. (2010) emphasized that even though PEX16 is involved in peroxisomal membrane assembly, PEX16 defects can present with a relatively mild phenotype showing import-competent peroxisomes in fibroblasts. </p>
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</span>
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<br />
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<h4>
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<span class="mim-font">
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<strong>.0004 PEROXISOME BIOGENESIS DISORDER 8B</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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PEX16, TYR331CYS
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<br />
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SNP: rs397514472,
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ClinVar: RCV000023295
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<span class="mim-text-font">
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<p>In a girl with a relatively mild type of peroxisomal biogenesis disorder (PBD8B; 614877), Ebberink et al. (2010) identified a homozygous 992A-G transition in exon 11a of the PEX16 gene, resulting in a tyr331-to-cys (Y331C) substitution. She developed an ataxic gait at age 2 years, after normal initial development except for delayed walking. At age 6 years, she had mild cognitive impairment, moderate dysarthria, and abnormal eye saccades. Brain MRI showed widespread white matter changes on a background pattern of global delay in myelin maturation, and reduced cerebellar volume. Similar MRI findings were observed in her younger sister. Studies of skin fibroblasts showed that peroxisomes were markedly enlarged in size and reduced in number compared to controls. However, biochemical studies showed only mild abnormalities, such as increased VLCFA, but most other peroxisomal functions appeared normal. </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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<h4>
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<span class="mim-font">
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<strong>.0005 PEROXISOME BIOGENESIS DISORDER 8B</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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PEX16, DEL, EX11
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<br />
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ClinVar: RCV000023297
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</span>
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</div>
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<span class="mim-text-font">
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<p>In an Indian girl, born of consanguineous parents, with a relatively mild type of peroxisomal biogenesis disorder (PBD8B; 614877), Ebberink et al. (2010) identified a homozygous large intragenic deletion of intron 10 and exon 11 of the PEX16 gene. In transcript variant 1, the deletion affected the last 468 base pairs of intron 10, the entire exon 11a, and the first 80 base pairs of the 3-prime flanking region of exon 11a. In transcript variant 2, the deletion affected the last 603 base pairs of intron 10, and the first 4 base pairs of exon 11b. The deletion resulted in 3 alternative splice products. She showed normal development for the first year of life, but then stopped acquiring new skills, and lost her ability to walk independently at age 24 months due to spasticity and mild ataxia. Her speech and other cognitive functions also deteriorated slowly over time. At the age of 5 years, she had nystagmus, cataracts, hyperreflexia, clonus, and extensor plantar responses. Brain imaging showed diffuse white matter abnormalities and focal atrophy of the cerebellum and corpus callosum. Peripheral nerve velocity studies of the lower limbs suggested demyelination. Studies of skin fibroblasts showed that the peroxisomes were markedly enlarged in size and reduced in number compared to controls. However, biochemical studies showed only mild abnormalities, such as increased VLCFA, but most other peroxisomal functions appeared normal. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Ebberink, M. S., Csanyi, B., Chong, W. K., Denis, S., Sharp, P., Mooijer, P. A. W., Dekker, C. J. M., Spooner, C., Ngu, L. H., De Sousa, C., Wanders, R. J. A., Fietz, M. J., Clayton, P. T., Waterham, H. R., Ferdinandusse, S.
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<strong>Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.</strong>
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J. Med. Genet. 47: 608-615, 2010.
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[PubMed: 20647552]
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[Full Text: https://doi.org/10.1136/jmg.2009.074302]
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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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Honsho, M., Hiroshige, T., Fujiki, Y.
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<strong>The membrane biogenesis peroxin Pex16p: topogenesis and functional roles in peroxisomal membrane assembly.</strong>
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J. Biol. Chem. 277: 44513-44524, 2002.
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[PubMed: 12223482]
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[Full Text: https://doi.org/10.1074/jbc.M206139200]
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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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Honsho, M., Tamura, S., Shimozawa, N., Suzuki, Y., Kondo, N., Fujiki, Y.
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<strong>Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.</strong>
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Am. J. Hum. Genet. 63: 1622-1630, 1998.
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[PubMed: 9837814]
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[Full Text: https://doi.org/10.1086/302161]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Shimozawa, N., Nagase, T., Takemoto, Y., Suzuki, Y., Fujiki, Y., Wanders, R. J. A., Kondo, N.
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<strong>A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome.</strong>
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Biochem. Biophys. Res. Commun. 292: 109-112, 2002.
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[PubMed: 11890679]
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[Full Text: https://doi.org/10.1006/bbrc.2002.6642]
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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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South, S. T., Gould, S. J.
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<strong>Peroxisome synthesis in the absence of preexisting peroxisomes.</strong>
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J. Cell. Biol. 144: 255-266, 1999.
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[PubMed: 9922452]
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[Full Text: https://doi.org/10.1083/jcb.144.2.255]
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</p>
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</li>
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<p class="mim-text-font">
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Sugiura, A., Mattie, S., Prudent, J., McBride, H. M.
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<strong>Newly born peroxisomes are a hybrid of mitochondrial and ER-derived pre-peroxisomes.</strong>
|
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Nature 542: 251-254, 2017.
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[PubMed: 28146471]
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[Full Text: https://doi.org/10.1038/nature21375]
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</p>
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</ol>
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<br />
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<span class="mim-text-font">
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Ada Hamosh - updated : 09/10/2019<br>Cassandra L. Kniffin - updated : 12/21/2010<br>Patricia A. Hartz - updated : 1/16/2003
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<span class="mim-text-font">
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Victor A. McKusick : 12/15/1998
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alopez : 09/10/2019<br>alopez : 10/25/2012<br>alopez : 10/24/2012<br>wwang : 1/4/2011<br>ckniffin : 12/21/2010<br>tkritzer : 7/20/2004<br>carol : 3/17/2004<br>carol : 11/11/2003<br>cwells : 1/21/2003<br>terry : 1/16/2003<br>mgross : 4/12/1999<br>mgross : 4/7/1999<br>mgross : 3/16/1999<br>carol : 12/15/1998
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