2736 lines
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Entry
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- *600279 - PEROXISOME BIOGENESIS FACTOR 19; PEX19
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- OMIM
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<p>
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<span class="h4">*600279</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<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/600279">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000162735;t=ENST00000368072" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=5824" 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=600279" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000162735;t=ENST00000368072" 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_001193644,NM_002857,NR_036492,NR_036493" 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_002857" 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=600279" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=02610&isoform_id=02610_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/PEX19" 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/551250,729723,2570023,4506339,4521235,12653449,21104398,30582597,119573112,119573113,119573114,221043188,221044444,302370946,957950074,957950077" 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/P40855" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=5824" 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=ENSG00000162735;t=ENST00000368072" 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=PEX19" 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=PEX19" 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+5824" 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/PEX19" 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:5824" 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/5824" 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=chr1&hgg_gene=ENST00000485079.1&hgg_start=160276807&hgg_end=160285151&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:9713" 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=600279[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=600279[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/ENSG00000162735" 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.gwascentral.org/search?q=PEX19" 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=PEX19" 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=PEX19&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/PA34058" 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:9713" 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/FBgn0032407.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:1334458" 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/PEX19#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:1334458" 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/5824/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=5824" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00004201;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050417-424" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5824" 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=PEX19&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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600279
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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 19; PEX19
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
PEROXISOMAL FARNESYLATED PROTEIN; PXF<br />
|
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HOUSEKEEPING GENE, 33-KD; HK33<br />
|
|
HOUSEKEEPING GENE 33<br />
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PEROXIN 19<br />
|
|
D1S2223E
|
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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=PEX19" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PEX19</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/1/1315?start=-3&limit=10&highlight=1315">1q23.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:160276807-160285151&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'})">1:160,276,807-160,285,151</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
<a href="/geneMap/1/1315?start=-3&limit=10&highlight=1315">
|
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1q23.2
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Peroxisome biogenesis disorder 12A (Zellweger)
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614886"> 614886 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600279" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600279" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></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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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
|
</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<p>The PEX19 gene encodes peroxisomal farnesylated protein, which plays a role in peroxisomal membrane synthesis (<a href="#2" class="mim-tip-reference" title="Gotte, K., Girzalsky, W., Linkert, M., Baumgart, E., Kammerer, S., Kunau, W.-H., Erdmann, R. <strong>Pex19p, a farnesylated protein essential for peroxisome biogenesis.</strong> Molec. Cell. Biol. 18: 616-628, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9418908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9418908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9418908[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.18.1.616" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9418908">Gotte et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9418908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="James, G. L., Goldstein, J. L., Pathak, R. K., Anderson, R. G. W., Brown, M. S. <strong>PxF, a prenylated protein of peroxisomes</strong> J. Biol. Chem. 269: 14182-14190, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188701</a>]" pmid="8188701">James et al. (1994)</a> identified in hamster a farnesylated protein, called peroxisomal farnesylated protein or PxF, that localized to the outer surface of peroxisomes. <a href="#4" class="mim-tip-reference" title="Kammerer, S., Arnold, N., Gutensohn, W., Mewes, H.-W., Kunau, W.-H., Hofler, G., Roscher, A. A., Braun, A. <strong>Genomic organization and molecular characterization of a gene encoding HsPXF, a human peroxisomal farnesylated protein.</strong> Genomics 45: 200-210, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9339377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9339377</a>] [<a href="https://doi.org/10.1006/geno.1997.4914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9339377">Kammerer et al. (1997)</a> found that the protein sequence of PxF is 93% identical to that of HK33, a human protein identified by <a href="#1" class="mim-tip-reference" title="Braun, A., Kammerer, S., Weissenhorn, W., Weiss, E. H., Cleve, H. <strong>Sequence of a putative human housekeeping gene (HK33) localized on chromosome 1.</strong> Gene 146: 291-295, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8076834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8076834</a>] [<a href="https://doi.org/10.1016/0378-1119(94)90308-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8076834">Braun et al. (1994)</a>. <a href="#1" class="mim-tip-reference" title="Braun, A., Kammerer, S., Weissenhorn, W., Weiss, E. H., Cleve, H. <strong>Sequence of a putative human housekeeping gene (HK33) localized on chromosome 1.</strong> Gene 146: 291-295, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8076834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8076834</a>] [<a href="https://doi.org/10.1016/0378-1119(94)90308-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8076834">Braun et al. (1994)</a> reported that HK33 is a predicted 299-amino acid protein with a mass of 33 kD by SDS-PAGE. Northern blot analysis and RT-PCR revealed that HK33 is expressed ubiquitously as 2.2 to 2.5-kb and 4-kb mRNAs. The fact that the gene was transcribed in all cells and tissues tested indicated its status as a housekeeping gene. <a href="#1" class="mim-tip-reference" title="Braun, A., Kammerer, S., Weissenhorn, W., Weiss, E. H., Cleve, H. <strong>Sequence of a putative human housekeeping gene (HK33) localized on chromosome 1.</strong> Gene 146: 291-295, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8076834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8076834</a>] [<a href="https://doi.org/10.1016/0378-1119(94)90308-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8076834">Braun et al. (1994)</a> demonstrated that at least 2 different HK33 transcripts result from the use of alternative polyadenylation sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9339377+8188701+8076834" 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="#4" class="mim-tip-reference" title="Kammerer, S., Arnold, N., Gutensohn, W., Mewes, H.-W., Kunau, W.-H., Hofler, G., Roscher, A. A., Braun, A. <strong>Genomic organization and molecular characterization of a gene encoding HsPXF, a human peroxisomal farnesylated protein.</strong> Genomics 45: 200-210, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9339377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9339377</a>] [<a href="https://doi.org/10.1006/geno.1997.4914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9339377">Kammerer et al. (1997)</a> isolated 4 variant HK33, or PEX19, mRNAs produced by alternative splicing. They found that the proteins encoded by 2 of the splice variants were farnesylated in vitro. Using immunoelectron microscopy, <a href="#4" class="mim-tip-reference" title="Kammerer, S., Arnold, N., Gutensohn, W., Mewes, H.-W., Kunau, W.-H., Hofler, G., Roscher, A. A., Braun, A. <strong>Genomic organization and molecular characterization of a gene encoding HsPXF, a human peroxisomal farnesylated protein.</strong> Genomics 45: 200-210, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9339377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9339377</a>] [<a href="https://doi.org/10.1006/geno.1997.4914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9339377">Kammerer et al. (1997)</a> showed that PEX19 is localized to the cytoplasmic surface of peroxisomes in liver cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9339377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Gotte, K., Girzalsky, W., Linkert, M., Baumgart, E., Kammerer, S., Kunau, W.-H., Erdmann, R. <strong>Pex19p, a farnesylated protein essential for peroxisome biogenesis.</strong> Molec. Cell. Biol. 18: 616-628, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9418908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9418908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9418908[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.18.1.616" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9418908">Gotte et al. (1998)</a> identified HK33 as the putative human ortholog of a S. cerevisiae gene, Pex19p. Pex19p encodes an oleic acid-inducible, farnesylated protein of 39.7 kD that is essential for peroxisome biogenesis. They showed that the essential C-terminal region of Pex19p could be replaced by the corresponding region of HK33. <a href="#4" class="mim-tip-reference" title="Kammerer, S., Arnold, N., Gutensohn, W., Mewes, H.-W., Kunau, W.-H., Hofler, G., Roscher, A. A., Braun, A. <strong>Genomic organization and molecular characterization of a gene encoding HsPXF, a human peroxisomal farnesylated protein.</strong> Genomics 45: 200-210, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9339377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9339377</a>] [<a href="https://doi.org/10.1006/geno.1997.4914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9339377">Kammerer et al. (1997)</a> stated that the peroxisomal localization of PEX19 and its similarity to Pex19p suggest that PEX19 is involved in the process of peroxisomal biogenesis or assembly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9339377+9418908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By functional complementation of peroxisome deficiency of a mutant hamster ovary cell line, ZP119, defective in import of both matrix and membrane proteins, <a href="#6" class="mim-tip-reference" title="Matsuzono, Y., Kinoshita, N., Tamura, S., Shimozawa, N., Hamasaki, M., Ghaedi, K., Wanders, R. J. A., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.</strong> Proc. Nat. Acad. Sci. 96: 2116-2121, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10051604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10051604</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10051604[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.5.2116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10051604">Matsuzono et al. (1999)</a> isolated a human PEX19 cDNA. A stable transformant of ZP119 with human PEX19 was morphologically and biochemically restored for peroxisome biogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10051604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Kammerer, S., Arnold, N., Gutensohn, W., Mewes, H.-W., Kunau, W.-H., Hofler, G., Roscher, A. A., Braun, A. <strong>Genomic organization and molecular characterization of a gene encoding HsPXF, a human peroxisomal farnesylated protein.</strong> Genomics 45: 200-210, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9339377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9339377</a>] [<a href="https://doi.org/10.1006/geno.1997.4914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9339377">Kammerer et al. (1997)</a> determined that the PEX19 gene contains 8 exons and spans approximately 9 kb. The basal promoter is located within the first 239 bp upstream of the coding region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9339377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By analysis of a somatic cell hybrid panel, <a href="#1" class="mim-tip-reference" title="Braun, A., Kammerer, S., Weissenhorn, W., Weiss, E. H., Cleve, H. <strong>Sequence of a putative human housekeeping gene (HK33) localized on chromosome 1.</strong> Gene 146: 291-295, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8076834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8076834</a>] [<a href="https://doi.org/10.1016/0378-1119(94)90308-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8076834">Braun et al. (1994)</a> mapped the PEX19 gene to chromosome 1. Using fluorescence in situ hybridization, <a href="#4" class="mim-tip-reference" title="Kammerer, S., Arnold, N., Gutensohn, W., Mewes, H.-W., Kunau, W.-H., Hofler, G., Roscher, A. A., Braun, A. <strong>Genomic organization and molecular characterization of a gene encoding HsPXF, a human peroxisomal farnesylated protein.</strong> Genomics 45: 200-210, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9339377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9339377</a>] [<a href="https://doi.org/10.1006/geno.1997.4914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9339377">Kammerer et al. (1997)</a> refined the map position to chromosome 1q22. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9339377+8076834" 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="Kinoshita, N., Ghaedi, K., Shimozawa, N., Wanders, R. J. A., Matsuzono, Y., Imanaka, T., Okumoto, K., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Newly identified Chinese hamster ovary cell mutants are defective in biogenesis of peroxisomal membrane vesicles (peroxisomal ghosts), representing a novel complementation group in mammals</strong> J. Biol. Chem. 273: 24122-24130, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9727033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9727033</a>] [<a href="https://doi.org/10.1074/jbc.273.37.24122" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9727033">Kinoshita et al. (1998)</a> identified complementation group J (CGJ) from patients with a peroxisome biogenesis disorder (PBD), such as Zellweger syndrome (PBD12A; <a href="/entry/614886">614886</a>). Two Chinese hamster ovary cell mutants were also found to belong to this group. In no CGJ mutant cell were peroxisomal ghosts found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9727033" 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="Matsuzono, Y., Kinoshita, N., Tamura, S., Shimozawa, N., Hamasaki, M., Ghaedi, K., Wanders, R. J. A., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.</strong> Proc. Nat. Acad. Sci. 96: 2116-2121, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10051604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10051604</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10051604[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.5.2116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10051604">Matsuzono et al. (1999)</a> found that human PEX19 expression restored peroxisomal protein import in fibroblasts from a patient with Zellweger syndrome of CGJ. This patient was found to be homozygous for an inactivating mutation, a 1-bp insertion (<a href="#0001">600279.0001</a>). These results demonstrated that PEX19 is the causative gene for CGJ PBD and suggested that the C-terminal part of the PEX19 protein, including the CAAX homology box, is required for its biologic function. Moreover, the PEX19 protein is apparently involved in the initial stage of peroxisome membrane assembly, before the import of matrix protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10051604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Mohamed, S., El-Meleagy, E., Nasr, A., Ebberink, M. S., Wanders, R. J. A., Waterham, H. R. <strong>A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder.</strong> Am. J. Med. Genet. 152A: 2318-2321, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20683989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20683989</a>] [<a href="https://doi.org/10.1002/ajmg.a.33560" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20683989">Mohamed et al. (2010)</a> identified a homozygous frameshift mutation in the PEX19 gene (<a href="#0002">600279.0002</a>) in an infant girl, born of consanguineous Saudi parents, with Zellweger syndrome of complementation group J. She had neonatal hypotonia, global developmental delay, and multisystem involvement, resulting in death at age 16 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20683989" 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>2 Selected Examples</a>):</strong>
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<a href="/allelicVariants/600279" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=600279[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<strong>.0001 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)</strong>
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PEX19, 1-BP INS, 764A
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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> rs267608186 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267608186;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/rs267608186?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=rs267608186" 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=rs267608186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000009797" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009797" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009797</a>
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<span class="mim-text-font">
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<p>In a patient with Zellweger syndrome of complementation group J (PBD12A; <a href="/entry/614886">614886</a>), <a href="#6" class="mim-tip-reference" title="Matsuzono, Y., Kinoshita, N., Tamura, S., Shimozawa, N., Hamasaki, M., Ghaedi, K., Wanders, R. J. A., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.</strong> Proc. Nat. Acad. Sci. 96: 2116-2121, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10051604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10051604</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10051604[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.5.2116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10051604">Matsuzono et al. (1999)</a> identified homozygosity for a 1-bp insertion (764insA) in the codon for met255 of the PEX19 gene. The mutation resulted in a frameshift, inducing a 24-amino acid sequence entirely distinct from that of normal protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10051604" 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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<span class="mim-font">
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<strong>.0002 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)</strong>
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PEX19, 1-BP DEL, 320A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1571138735 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1571138735;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=rs1571138735" 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=rs1571138735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000022964" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022964" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022964</a>
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</span>
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<span class="mim-text-font">
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<p>In an infant girl, born of consanguineous Saudi parents, with Zellweger syndrome of complementation group J (PBD12A; <a href="/entry/614886">614886</a>), <a href="#7" class="mim-tip-reference" title="Mohamed, S., El-Meleagy, E., Nasr, A., Ebberink, M. S., Wanders, R. J. A., Waterham, H. R. <strong>A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder.</strong> Am. J. Med. Genet. 152A: 2318-2321, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20683989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20683989</a>] [<a href="https://doi.org/10.1002/ajmg.a.33560" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20683989">Mohamed et al. (2010)</a> identified a homozygous 1-bp deletion (320delA) in the PEX19 gene, resulting in a frameshift. The patient had neonatal hypotonia, poor growth, and subtle dysmorphic features, including cranial asymmetry, triangular face, low hairline, open fontanels, and broad nasal bridge. Laboratory studies showed elevated liver enzymes, hyperbilirubinemia, and a very long chain fatty acid (VLCFA) profile consistent with a PBD. Brain imaging showed cerebral atrophy, cortical changes, and diffuse demyelination. There was a complete absence of peroxisomes in patient fibroblasts. The patient had a severe clinical course, complicated by global developmental delay, refractory seizures, renal tubular defect, multiple gallstones, and recurrent hospitalizations. She died of sepsis at age 16 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20683989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<a id="1" class="mim-anchor"></a>
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<a id="Braun1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Braun, A., Kammerer, S., Weissenhorn, W., Weiss, E. H., Cleve, H.
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<strong>Sequence of a putative human housekeeping gene (HK33) localized on chromosome 1.</strong>
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Gene 146: 291-295, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8076834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8076834</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8076834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0378-1119(94)90308-5" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Gotte1998" class="mim-anchor"></a>
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Gotte, K., Girzalsky, W., Linkert, M., Baumgart, E., Kammerer, S., Kunau, W.-H., Erdmann, R.
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<strong>Pex19p, a farnesylated protein essential for peroxisome biogenesis.</strong>
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Molec. Cell. Biol. 18: 616-628, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9418908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9418908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9418908[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=9418908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/MCB.18.1.616" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="James1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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James, G. L., Goldstein, J. L., Pathak, R. K., Anderson, R. G. W., Brown, M. S.
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<strong>PxF, a prenylated protein of peroxisomes</strong>
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J. Biol. Chem. 269: 14182-14190, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188701</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8188701" 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="4" class="mim-anchor"></a>
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<a id="Kammerer1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kammerer, S., Arnold, N., Gutensohn, W., Mewes, H.-W., Kunau, W.-H., Hofler, G., Roscher, A. A., Braun, A.
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<strong>Genomic organization and molecular characterization of a gene encoding HsPXF, a human peroxisomal farnesylated protein.</strong>
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Genomics 45: 200-210, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9339377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9339377</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9339377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1997.4914" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Kinoshita1998" class="mim-anchor"></a>
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Kinoshita, N., Ghaedi, K., Shimozawa, N., Wanders, R. J. A., Matsuzono, Y., Imanaka, T., Okumoto, K., Suzuki, Y., Kondo, N., Fujiki, Y.
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<strong>Newly identified Chinese hamster ovary cell mutants are defective in biogenesis of peroxisomal membrane vesicles (peroxisomal ghosts), representing a novel complementation group in mammals</strong>
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J. Biol. Chem. 273: 24122-24130, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9727033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9727033</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9727033" 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.273.37.24122" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Matsuzono1999" class="mim-anchor"></a>
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Matsuzono, Y., Kinoshita, N., Tamura, S., Shimozawa, N., Hamasaki, M., Ghaedi, K., Wanders, R. J. A., Suzuki, Y., Kondo, N., Fujiki, Y.
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<strong>Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.</strong>
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Proc. Nat. Acad. Sci. 96: 2116-2121, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10051604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10051604</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10051604[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=10051604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.96.5.2116" target="_blank">Full Text</a>]
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Mohamed2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mohamed, S., El-Meleagy, E., Nasr, A., Ebberink, M. S., Wanders, R. J. A., Waterham, H. R.
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<strong>A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder.</strong>
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Am. J. Med. Genet. 152A: 2318-2321, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20683989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20683989</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20683989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33560" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/15/2011
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<span class="mim-text-font">
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Victor A. McKusick - updated : 4/6/1999
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Creation Date:
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Victor A. McKusick : 1/5/1995
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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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alopez : 10/25/2012
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<span class="mim-text-font">
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alopez : 10/24/2012<br>wwang : 7/1/2011<br>ckniffin : 6/15/2011<br>tkritzer : 7/20/2004<br>alopez : 3/17/2004<br>mgross : 4/7/1999<br>mgross : 4/6/1999<br>alopez : 2/5/1999<br>joanna : 5/7/1997<br>mark : 5/9/1995<br>carol : 1/5/1995
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<h3>
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<span class="mim-font">
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<strong>*</strong> 600279
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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PEROXISOME BIOGENESIS FACTOR 19; PEX19
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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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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PEROXISOMAL FARNESYLATED PROTEIN; PXF<br />
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HOUSEKEEPING GENE, 33-KD; HK33<br />
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HOUSEKEEPING GENE 33<br />
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PEROXIN 19<br />
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D1S2223E
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</span>
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</h4>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PEX19</em></strong>
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</span>
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</p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 1q23.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:160,276,807-160,285,151 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<table class="table table-bordered table-condensed small mim-table-padding">
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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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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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1q23.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Peroxisome biogenesis disorder 12A (Zellweger)
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</span>
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</td>
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<td>
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<span class="mim-font">
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614886
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The PEX19 gene encodes peroxisomal farnesylated protein, which plays a role in peroxisomal membrane synthesis (Gotte et al., 1998). </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>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>James et al. (1994) identified in hamster a farnesylated protein, called peroxisomal farnesylated protein or PxF, that localized to the outer surface of peroxisomes. Kammerer et al. (1997) found that the protein sequence of PxF is 93% identical to that of HK33, a human protein identified by Braun et al. (1994). Braun et al. (1994) reported that HK33 is a predicted 299-amino acid protein with a mass of 33 kD by SDS-PAGE. Northern blot analysis and RT-PCR revealed that HK33 is expressed ubiquitously as 2.2 to 2.5-kb and 4-kb mRNAs. The fact that the gene was transcribed in all cells and tissues tested indicated its status as a housekeeping gene. Braun et al. (1994) demonstrated that at least 2 different HK33 transcripts result from the use of alternative polyadenylation sites. </p><p>Kammerer et al. (1997) isolated 4 variant HK33, or PEX19, mRNAs produced by alternative splicing. They found that the proteins encoded by 2 of the splice variants were farnesylated in vitro. Using immunoelectron microscopy, Kammerer et al. (1997) showed that PEX19 is localized to the cytoplasmic surface of peroxisomes in liver cells. </p><p>Gotte et al. (1998) identified HK33 as the putative human ortholog of a S. cerevisiae gene, Pex19p. Pex19p encodes an oleic acid-inducible, farnesylated protein of 39.7 kD that is essential for peroxisome biogenesis. They showed that the essential C-terminal region of Pex19p could be replaced by the corresponding region of HK33. Kammerer et al. (1997) stated that the peroxisomal localization of PEX19 and its similarity to Pex19p suggest that PEX19 is involved in the process of peroxisomal biogenesis or assembly. </p><p>By functional complementation of peroxisome deficiency of a mutant hamster ovary cell line, ZP119, defective in import of both matrix and membrane proteins, Matsuzono et al. (1999) isolated a human PEX19 cDNA. A stable transformant of ZP119 with human PEX19 was morphologically and biochemically restored for peroxisome biogenesis. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kammerer et al. (1997) determined that the PEX19 gene contains 8 exons and spans approximately 9 kb. The basal promoter is located within the first 239 bp upstream of the coding region. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By analysis of a somatic cell hybrid panel, Braun et al. (1994) mapped the PEX19 gene to chromosome 1. Using fluorescence in situ hybridization, Kammerer et al. (1997) refined the map position to chromosome 1q22. </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>Kinoshita et al. (1998) identified complementation group J (CGJ) from patients with a peroxisome biogenesis disorder (PBD), such as Zellweger syndrome (PBD12A; 614886). Two Chinese hamster ovary cell mutants were also found to belong to this group. In no CGJ mutant cell were peroxisomal ghosts found. </p><p>Matsuzono et al. (1999) found that human PEX19 expression restored peroxisomal protein import in fibroblasts from a patient with Zellweger syndrome of CGJ. This patient was found to be homozygous for an inactivating mutation, a 1-bp insertion (600279.0001). These results demonstrated that PEX19 is the causative gene for CGJ PBD and suggested that the C-terminal part of the PEX19 protein, including the CAAX homology box, is required for its biologic function. Moreover, the PEX19 protein is apparently involved in the initial stage of peroxisome membrane assembly, before the import of matrix protein. </p><p>Mohamed et al. (2010) identified a homozygous frameshift mutation in the PEX19 gene (600279.0002) in an infant girl, born of consanguineous Saudi parents, with Zellweger syndrome of complementation group J. She had neonatal hypotonia, global developmental delay, and multisystem involvement, resulting in death at age 16 months. </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>2 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 12A (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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PEX19, 1-BP INS, 764A
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<br />
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|
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SNP: rs267608186,
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|
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gnomAD: rs267608186,
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ClinVar: RCV000009797
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a patient with Zellweger syndrome of complementation group J (PBD12A; 614886), Matsuzono et al. (1999) identified homozygosity for a 1-bp insertion (764insA) in the codon for met255 of the PEX19 gene. The mutation resulted in a frameshift, inducing a 24-amino acid sequence entirely distinct from that of normal protein. </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 12A (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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PEX19, 1-BP DEL, 320A
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<br />
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SNP: rs1571138735,
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ClinVar: RCV000022964
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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 an infant girl, born of consanguineous Saudi parents, with Zellweger syndrome of complementation group J (PBD12A; 614886), Mohamed et al. (2010) identified a homozygous 1-bp deletion (320delA) in the PEX19 gene, resulting in a frameshift. The patient had neonatal hypotonia, poor growth, and subtle dysmorphic features, including cranial asymmetry, triangular face, low hairline, open fontanels, and broad nasal bridge. Laboratory studies showed elevated liver enzymes, hyperbilirubinemia, and a very long chain fatty acid (VLCFA) profile consistent with a PBD. Brain imaging showed cerebral atrophy, cortical changes, and diffuse demyelination. There was a complete absence of peroxisomes in patient fibroblasts. The patient had a severe clinical course, complicated by global developmental delay, refractory seizures, renal tubular defect, multiple gallstones, and recurrent hospitalizations. She died of sepsis at age 16 months. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Braun, A., Kammerer, S., Weissenhorn, W., Weiss, E. H., Cleve, H.
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<strong>Sequence of a putative human housekeeping gene (HK33) localized on chromosome 1.</strong>
|
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Gene 146: 291-295, 1994.
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[PubMed: 8076834]
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[Full Text: https://doi.org/10.1016/0378-1119(94)90308-5]
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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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Gotte, K., Girzalsky, W., Linkert, M., Baumgart, E., Kammerer, S., Kunau, W.-H., Erdmann, R.
|
|
<strong>Pex19p, a farnesylated protein essential for peroxisome biogenesis.</strong>
|
|
Molec. Cell. Biol. 18: 616-628, 1998.
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[PubMed: 9418908]
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[Full Text: https://doi.org/10.1128/MCB.18.1.616]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
James, G. L., Goldstein, J. L., Pathak, R. K., Anderson, R. G. W., Brown, M. S.
|
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<strong>PxF, a prenylated protein of peroxisomes</strong>
|
|
J. Biol. Chem. 269: 14182-14190, 1994.
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[PubMed: 8188701]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Kammerer, S., Arnold, N., Gutensohn, W., Mewes, H.-W., Kunau, W.-H., Hofler, G., Roscher, A. A., Braun, A.
|
|
<strong>Genomic organization and molecular characterization of a gene encoding HsPXF, a human peroxisomal farnesylated protein.</strong>
|
|
Genomics 45: 200-210, 1997.
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[PubMed: 9339377]
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[Full Text: https://doi.org/10.1006/geno.1997.4914]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kinoshita, N., Ghaedi, K., Shimozawa, N., Wanders, R. J. A., Matsuzono, Y., Imanaka, T., Okumoto, K., Suzuki, Y., Kondo, N., Fujiki, Y.
|
|
<strong>Newly identified Chinese hamster ovary cell mutants are defective in biogenesis of peroxisomal membrane vesicles (peroxisomal ghosts), representing a novel complementation group in mammals</strong>
|
|
J. Biol. Chem. 273: 24122-24130, 1998.
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[PubMed: 9727033]
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[Full Text: https://doi.org/10.1074/jbc.273.37.24122]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Matsuzono, Y., Kinoshita, N., Tamura, S., Shimozawa, N., Hamasaki, M., Ghaedi, K., Wanders, R. J. A., Suzuki, Y., Kondo, N., Fujiki, Y.
|
|
<strong>Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.</strong>
|
|
Proc. Nat. Acad. Sci. 96: 2116-2121, 1999.
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[PubMed: 10051604]
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[Full Text: https://doi.org/10.1073/pnas.96.5.2116]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Mohamed, S., El-Meleagy, E., Nasr, A., Ebberink, M. S., Wanders, R. J. A., Waterham, H. R.
|
|
<strong>A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder.</strong>
|
|
Am. J. Med. Genet. 152A: 2318-2321, 2010.
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[PubMed: 20683989]
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[Full Text: https://doi.org/10.1002/ajmg.a.33560]
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</p>
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</li>
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Cassandra L. Kniffin - updated : 6/15/2011<br>Victor A. McKusick - updated : 4/6/1999
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Victor A. McKusick : 1/5/1995
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alopez : 10/25/2012<br>alopez : 10/24/2012<br>wwang : 7/1/2011<br>ckniffin : 6/15/2011<br>tkritzer : 7/20/2004<br>alopez : 3/17/2004<br>mgross : 4/7/1999<br>mgross : 4/6/1999<br>alopez : 2/5/1999<br>joanna : 5/7/1997<br>mark : 5/9/1995<br>carol : 1/5/1995
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