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Entry
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- *601758 - PEROXISOME BIOGENESIS FACTOR 12; PEX12
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- OMIM
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<p>
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<span class="h4">*601758</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</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/601758">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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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=ENSG00000108733;t=ENST00000225873" 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=5193" 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=601758" 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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<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=ENSG00000108733;t=ENST00000225873" 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_000286" 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_000286" 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=601758" 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=03455&isoform_id=03455_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/PEX12" 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/1938367,1938369,3024371,3308973,4505721,22658425,118142838,119600549,189069181" 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/O00623" 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=5193" 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=ENSG00000108733;t=ENST00000225873" 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=PEX12" 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=PEX12" 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+5193" 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/PEX12" 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:5193" 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/5193" 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=chr17&hgg_gene=ENST00000225873.9&hgg_start=35574795&hgg_end=35578571&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:8854" 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=601758[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=601758[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/ENSG00000108733" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=PEX12" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=PEX12" 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=PEX12" 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=PEX12&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/PA33196" 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:8854" 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/FBgn0031282.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:2144177" 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/PEX12#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:2144177" 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/5193/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=5193" 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=WBGene00004197;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-929" 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:5193" 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=PEX12&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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601758
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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 12; PEX12
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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">
|
|
PEROXIN 12
|
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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=PEX12" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PEX12</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/17/424?start=-3&limit=10&highlight=424">17q12</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:35574795-35578571&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'})">17:35,574,795-35,578,571</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
|
|
Phenotype
|
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|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614859,266510" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
|
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</th>
|
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
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|
<tr>
|
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<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/424?start=-3&limit=10&highlight=424">
|
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17q12
|
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</a>
|
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</span>
|
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</td>
|
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|
|
|
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<td>
|
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<span class="mim-font">
|
|
Peroxisome biogenesis disorder 3A (Zellweger)
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614859"> 614859 </a>
|
|
|
|
</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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<tr>
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<td>
|
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<span class="mim-font">
|
|
Peroxisome biogenesis disorder 3B
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/266510"> 266510 </a>
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/601758" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601758" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</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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<p><a href="#2" class="mim-tip-reference" title="Chang, C.-C., Lee, W.-H., Moser, H., Valle, D., Gould, S. J. <strong>Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.</strong> Nature Genet. 15: 385-388, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090384</a>] [<a href="https://doi.org/10.1038/ng0497-385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090384">Chang et al. (1997)</a> identified a human ortholog of yeast PEX12 by screening the public database of expressed sequence tags (ESTs) for cDNAs encoding a protein similar to the yeast PEX12 protein. The human gene encodes a predicted 359-amino acid protein with a molecular mass of approximately 40 kD. Although its sequence similarity to yeast PEX12 is limited, the human PEX12 protein is also an integral peroxisomal membrane protein. Like the yeast protein, human peroxin-12 has 2 membrane-spanning domains and a C3HC4 zinc-binding motif extending out into the cytosol. This ring-finger domain is essential for the function of PEX12 (<a href="#7" class="mim-tip-reference" title="Kalish, J. E., Keller, G. A., Morrell, J. C., Mihalik, S. J., Smith, B., Cregg, J. M., Gould, S. J. <strong>Characterization of a novel component of the peroxisomal protein import apparatus using fluorescent peroxisomal proteins.</strong> EMBO J. 15: 3275-3285, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8670828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8670828</a>]" pmid="8670828">Kalish et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8670828+9090384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Okumoto, K., Fujiki, Y. <strong>PEX12 encodes an integral membrane protein of peroxisomes. (Letter)</strong> Nature Genet. 17: 265-266, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354782</a>] [<a href="https://doi.org/10.1038/ng1197-265" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354782">Okumoto and Fujiki (1997)</a> independently cloned a human PEX12 cDNA. <a href="#10" class="mim-tip-reference" title="Okumoto, K., Shimozawa, N., Kawai, A., Tamura, S., Tsukamoto, T., Osumi, T., Moser, H., Wanders, R. J. A., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>PEX12, the pathogenic gene of group III Zellweger syndrome: DNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of Pex12p.</strong> Molec. Cell. Biol. 18: 4324-4336, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9632816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9632816</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9632816[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.18.7.4324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9632816">Okumoto et al. (1998)</a> determined that the PEX12 protein exposes both N- and C-terminal regions to the cytosol. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9632816+9354782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Chang, C.-C., Lee, W.-H., Moser, H., Valle, D., Gould, S. J. <strong>Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.</strong> Nature Genet. 15: 385-388, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090384</a>] [<a href="https://doi.org/10.1038/ng0497-385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090384">Chang et al. (1997)</a> found that PEX12 expression restored peroxisomal protein import in fibroblasts from PBD patients of complementation group 3 (CG3), and they identified frameshift mutations in PEX12 in 2 unrelated CG3 patients (e.g., <a href="#0001">601758.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9090384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Okumoto, K., Fujiki, Y. <strong>PEX12 encodes an integral membrane protein of peroxisomes. (Letter)</strong> Nature Genet. 17: 265-266, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354782</a>] [<a href="https://doi.org/10.1038/ng1197-265" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354782">Okumoto and Fujiki (1997)</a> identified a homozygous nonsense mutation in the PEX12 gene (<a href="#0004">601758.0004</a>) resulting in PEX12 deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354782" 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="#1" class="mim-tip-reference" title="Chang, C.-C., Gould, S. J. <strong>Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.</strong> Am. J. Hum. Genet. 63: 1294-1306, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792857</a>] [<a href="https://doi.org/10.1086/302103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792857">Chang and Gould (1998)</a> demonstrated that all patients from complementation group 3 of the peroxisome biogenesis disorder carry mutations in PEX12. A comparison between PEX12 genotypes and the clinical and cellular phenotypes of the corresponding PBD patients suggested a relatively straightforward relationship between genotype and phenotype in this group of the PBDs, such that the loss of PEX12 function leads to more severe cellular and clinical phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792857" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Gootjes, J., Schmohl, F., Waterham, H. R., Wanders, R. J. A. <strong>Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.</strong> Europ. J. Hum. Genet. 12: 115-120, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14571262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14571262</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14571262">Gootjes et al. (2004)</a> reported 5 PBD patients with mutations in the PEX12 gene. Four patients with a severe phenotype had mutations that disrupted the protein and eliminated at least the last zinc-binding domain. One patient with a milder phenotype had an allele that was capable of producing a protein with the zinc-binding domain (see <a href="#0009">601758.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14571262" 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="Gootjes, J., Schmohl, F., Mooijer, P. A. W., Dekker, C., Mandel, H., Topcu, M., Huemer, M., von Schutz, M., Marquardt, T., Smeitink, J. A., Waterham, H. R., Wanders, R. J. A. <strong>Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.</strong> Hum. Mutat. 24: 130-139, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15241794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15241794</a>] [<a href="https://doi.org/10.1002/humu.20062" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15241794">Gootjes et al. (2004)</a> reported the biochemical characteristics and molecular basis of a subset of atypical PBD patients. These patients were characterized by abnormal peroxisomal plasma metabolites, but otherwise normal to very mildly abnormal peroxisomal parameters in cultured skin fibroblasts, including a mosaic catalase immunofluorescence pattern in fibroblasts. Since the latter feature made standard complementation analysis impossible, the authors used a novel complementation technique in which fibroblasts were cultured at 40 degrees Celsius, which exacerbates the defect in peroxisome biogenesis. Using this method, they assigned 8 patients to complementation group 3, followed by identification of a single homozygous mutation in the PEX12 gene (<a href="#0006">601758.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15241794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=601758[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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<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> rs61752107 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752107;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/rs61752107?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=rs61752107" 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=rs61752107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000409475 OR RCV000410995 OR RCV000728570 OR RCV000781710 OR RCV003335311" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000409475, RCV000410995, RCV000728570, RCV000781710, RCV003335311" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000409475...</a>
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<p>In fibroblasts from a patient (PBD097) with peroxisome biogenesis disorder of complementation group 3 (PBD3A; <a href="/entry/614859">614859</a>), <a href="#2" class="mim-tip-reference" title="Chang, C.-C., Lee, W.-H., Moser, H., Valle, D., Gould, S. J. <strong>Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.</strong> Nature Genet. 15: 385-388, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090384</a>] [<a href="https://doi.org/10.1038/ng0497-385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090384">Chang et al. (1997)</a> identified compound heterozygosity for a 4-bp insertion after nucleotide 733 of the PEX12 gene and a single T insertion after nucleotide 744 (<a href="#0002">601758.0002</a>). The 4-bp insertion creates a new Cac8I restriction site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9090384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs61752108 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752108;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/rs61752108?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=rs61752108" 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=rs61752108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000669254 OR RCV001008292 OR RCV001174916 OR RCV001333351" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000669254, RCV001008292, RCV001174916, RCV001333351" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000669254...</a>
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<p>For discussion of the 1-bp insertion after nucleotide 744 in the PEX12 gene that was found in compound heterozygous state in fibroblasts from a patient (PBD097) with peroxisome biogenesis disorder of complementation group 3 (PBD3A; <a href="/entry/614859">614859</a>) by <a href="#2" class="mim-tip-reference" title="Chang, C.-C., Lee, W.-H., Moser, H., Valle, D., Gould, S. J. <strong>Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.</strong> Nature Genet. 15: 385-388, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090384</a>] [<a href="https://doi.org/10.1038/ng0497-385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090384">Chang et al. (1997)</a>, see <a href="#0001">601758.0001</a>. This insertion eliminates an AccI restriction site in the PEX12 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9090384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs62642859 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs62642859;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/rs62642859?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=rs62642859" 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=rs62642859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000410147 OR RCV000412130" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000410147, RCV000412130" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000410147...</a>
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<p>In a patient (PBD040) with peroxisome biogenesis disorder of complementation group 3 (PBD3A; <a href="/entry/614859">614859</a>), <a href="#2" class="mim-tip-reference" title="Chang, C.-C., Lee, W.-H., Moser, H., Valle, D., Gould, S. J. <strong>Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.</strong> Nature Genet. 15: 385-388, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090384</a>] [<a href="https://doi.org/10.1038/ng0497-385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090384">Chang et al. (1997)</a> identified a 4-bp frameshift mutation in the PEX12 gene. No other PEX12 allele was identified in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9090384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894616 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894616;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=rs104894616" 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=rs104894616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008215" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008215" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008215</a>
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<p>In a patient (PBD3-02) with peroxisome biogenesis disorder of complementation group 3 (PBD3A; <a href="/entry/614859">614859</a>), <a href="#9" class="mim-tip-reference" title="Okumoto, K., Fujiki, Y. <strong>PEX12 encodes an integral membrane protein of peroxisomes. (Letter)</strong> Nature Genet. 17: 265-266, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354782</a>] [<a href="https://doi.org/10.1038/ng1197-265" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354782">Okumoto and Fujiki (1997)</a> identified homozygosity for an A-to-T transversion in the PEX12 gene, resulting in a termination codon being substituted for lysine at codon 231. Transfection of the patient's PEX12 into a PEX12-deficient cell line did not restore peroxisomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs61752103 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752103;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/rs61752103?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=rs61752103" 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=rs61752103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008216 OR RCV000032926 OR RCV000666018 OR RCV001193474" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008216, RCV000032926, RCV000666018, RCV001193474" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008216...</a>
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<p>In a patient (PBD3-03) with peroxisome biogenesis disorder of complementation group 3 (PBD3A; <a href="/entry/614859">614859</a>), <a href="#10" class="mim-tip-reference" title="Okumoto, K., Shimozawa, N., Kawai, A., Tamura, S., Tsukamoto, T., Osumi, T., Moser, H., Wanders, R. J. A., Suzuki, Y., Kondo, N., Fujiki, Y. <strong>PEX12, the pathogenic gene of group III Zellweger syndrome: DNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of Pex12p.</strong> Molec. Cell. Biol. 18: 4324-4336, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9632816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9632816</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9632816[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.18.7.4324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9632816">Okumoto et al. (1998)</a> identified homozygosity for a 538C-T transition in the PEX12 gene, changing arginine at 180 to a termination codon (R180X). This mutation was incorrectly identified as arg180-to-thr in the abstract. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9632816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Chang, C.-C., Gould, S. J. <strong>Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.</strong> Am. J. Hum. Genet. 63: 1294-1306, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792857</a>] [<a href="https://doi.org/10.1086/302103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792857">Chang and Gould (1998)</a> found the R180X mutation in compound heterozygosity in 2 patients with Zellweger syndrome (PBD006, PBD098). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792857" 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="Gootjes, J., Skovby, F., Christensen, E., Wanders, R. J. A., Ferdinandusse, S. <strong>Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder.</strong> Neurology 62: 2077-2081, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15184617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15184617</a>] [<a href="https://doi.org/10.1212/01.wnl.0000127576.26352.d1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15184617">Gootjes et al. (2004)</a> found this mutation in compound heterozygosity with a missense mutation (L317F; <a href="#0010">601758.0010</a>) in a patient with a mild form of peroxisome biogenesis disorder of complementation group 3 (PBD3B; <a href="/entry/266510">266510</a>). This patient was alive at the age of 22 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15184617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28936697 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28936697;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/rs28936697?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=rs28936697" 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=rs28936697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008217 OR RCV000415755 OR RCV000625796 OR RCV002281700" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008217, RCV000415755, RCV000625796, RCV002281700" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008217...</a>
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<p><a href="#4" class="mim-tip-reference" title="Gootjes, J., Schmohl, F., Mooijer, P. A. W., Dekker, C., Mandel, H., Topcu, M., Huemer, M., von Schutz, M., Marquardt, T., Smeitink, J. A., Waterham, H. R., Wanders, R. J. A. <strong>Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.</strong> Hum. Mutat. 24: 130-139, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15241794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15241794</a>] [<a href="https://doi.org/10.1002/humu.20062" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15241794">Gootjes et al. (2004)</a> identified a 959C-T transition in the PEX12 gene, resulting in a ser320-to-phe (S320F) substitution, in 8 PBD patients with atypical features (PBD3B; <a href="/entry/266510">266510</a>). The PEX12-S320F patients displayed a relatively mild phenotype compared with the whole PBD spectrum. When compared to mild PEX1-G843D patients (<a href="/entry/602136#0001">602136.0001</a>), as described by <a href="#11" class="mim-tip-reference" title="Preuss, N., Brosius, U., Biermanns, M., Muntau, A. C., Conzelmann, E., Gartner, J. <strong>PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.</strong> Pediat. Res. 51: 706-714, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12032265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12032265</a>] [<a href="https://doi.org/10.1203/00006450-200206000-00008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12032265">Preuss et al. (2002)</a>, they displayed fewer dysmorphic features and ocular abnormalities, although their cerebral and liver abnormalities were similar. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15241794+12032265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs61752097 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752097;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=rs61752097" 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=rs61752097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008218" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008218" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008218</a>
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<p>In a patient (PBD099) with a mild form of peroxisome biogenesis disorder of complementation group 3 (PBD3B; <a href="/entry/266510">266510</a>), <a href="#1" class="mim-tip-reference" title="Chang, C.-C., Gould, S. J. <strong>Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.</strong> Am. J. Hum. Genet. 63: 1294-1306, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792857</a>] [<a href="https://doi.org/10.1086/302103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792857">Chang and Gould (1998)</a> identified compound heterozygosity for 2 mutations in the PEX12 gene: a 2-bp deletion (26delCA) early in the coding region and a splice site mutation (<a href="#0008">601758.0008</a>). PEX12 mRNA present in the patient's cells was derived from only the allele with the 2-bp deletion. The deduced protein product of this mRNA would contain only the first 8 amino acids of the protein, but functional expression studies showed that the mutant PEX12 protein retained significant residual activity, approximately one-seventh that of the wildtype protein. Further analysis showed that the 2-bp mutation resulted in the synthesis of a 29-kD PEX12 protein in vitro, consistent with translation initiation at a downstream internal AUG codon. The authors noted that translation initiation at internal AUG codons may modulate disease phenotypes and should be considered when unexpectedly mild phenotypes result from predicated 'severe' mutations early in the coding region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792857" 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>.0008 PEROXISOMAL BIOGENESIS DISORDER 3B</strong>
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PEX12, IVS1DS, G-T, +1
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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> rs202143236 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs202143236;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/rs202143236?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=rs202143236" 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=rs202143236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008219" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008219" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008219</a>
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<p>For discussion of the splice site mutation in the PEX12 gene that was found in compound heterozygous state in a patient (PBD099) with a mild form of peroxisome biogenesis disorder of complementation group 3 (PBD3B; <a href="/entry/266510">266510</a>) by <a href="#1" class="mim-tip-reference" title="Chang, C.-C., Gould, S. J. <strong>Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.</strong> Am. J. Hum. Genet. 63: 1294-1306, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792857</a>] [<a href="https://doi.org/10.1086/302103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792857">Chang and Gould (1998)</a>, see <a href="#0007">601758.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792857" 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="0009" class="mim-anchor"></a>
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<strong>.0009 PEROXISOMAL BIOGENESIS DISORDER 3B</strong>
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PEX12, ARG91SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28936698 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28936698;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=rs28936698" 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=rs28936698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008220" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008220" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008220</a>
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<p>In a patient (PEX12-02) with a mild form of peroxisome biogenesis disorder of complementation group 3 (PBD3B; <a href="/entry/266510">266510</a>), <a href="#5" class="mim-tip-reference" title="Gootjes, J., Schmohl, F., Waterham, H. R., Wanders, R. J. A. <strong>Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.</strong> Europ. J. Hum. Genet. 12: 115-120, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14571262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14571262</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14571262">Gootjes et al. (2004)</a> identified a homozygous 273A-T transversion in the PEX12 gene, resulting in an arg91-to-ser (R91S) substitution in the N terminus. The levels of PEX12 mRNA were relatively normal. Biochemical studies showed that the patient's cells had normal levels of dihydroxyacetonephosphate acyltransferase (DHAPAT) activity. The missense mutation, compared to frameshift or nonsense mutations, is predicted to result in a full-length protein that retains the transmembrane domains and the zinc-binding domain. <a href="#5" class="mim-tip-reference" title="Gootjes, J., Schmohl, F., Waterham, H. R., Wanders, R. J. A. <strong>Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.</strong> Europ. J. Hum. Genet. 12: 115-120, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14571262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14571262</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14571262">Gootjes et al. (2004)</a> noted the genotype/phenotype correlation between a milder phenotype and the residual protein activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14571262" 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="0010" class="mim-anchor"></a>
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<strong>.0010 PEROXISOMAL BIOGENESIS DISORDER 3B</strong>
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PEX12, LEU317PHE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs61752112 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752112;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=rs61752112" 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=rs61752112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008221 OR RCV000675048" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008221, RCV000675048" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008221...</a>
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<p>In a patient with a mild form of peroxisome biogenesis disorder of complementation group 3 (PBD3B; <a href="/entry/266510">266510</a>), <a href="#6" class="mim-tip-reference" title="Gootjes, J., Skovby, F., Christensen, E., Wanders, R. J. A., Ferdinandusse, S. <strong>Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder.</strong> Neurology 62: 2077-2081, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15184617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15184617</a>] [<a href="https://doi.org/10.1212/01.wnl.0000127576.26352.d1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15184617">Gootjes et al. (2004)</a> identified compound heterozygosity for 2 mutations in the PEX12 gene: a 949C-T transition, resulting in a leu317-to-phe (L317F) substitution in the zinc-binding domain of the protein, and an R180X (<a href="#0005">601758.0005</a>) substitution. Although biochemical analyses of the patient's plasma suggested the presence of a peroxisomal disorder, studies of the patient's fibroblasts were normal, suggesting that the defect was organ-specific. <a href="#3" class="mim-tip-reference" title="Christensen, E., Van Eldere, J., Brandt, N. J., Schutgens, R. B. H., Wanders, R. J. A., Eyssen, H. J. <strong>A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency.</strong> J. Inherit. Metab. Dis. 13: 363-366, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2122101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2122101</a>] [<a href="https://doi.org/10.1007/BF01799396" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2122101">Christensen et al. (1990)</a> had previously diagnosed the patient with a deficiency of trihydroxycholestanoyl-CoA oxidase, which <a href="#6" class="mim-tip-reference" title="Gootjes, J., Skovby, F., Christensen, E., Wanders, R. J. A., Ferdinandusse, S. <strong>Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder.</strong> Neurology 62: 2077-2081, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15184617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15184617</a>] [<a href="https://doi.org/10.1212/01.wnl.0000127576.26352.d1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15184617">Gootjes et al. (2004)</a> excluded as a distinct disease entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2122101+15184617" 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="0011" class="mim-anchor"></a>
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<strong>.0011 PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER)</strong>
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PEX12, 2-BP DEL, 887TC
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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> rs398123301 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398123301;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/rs398123301?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=rs398123301" 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=rs398123301" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000078563 OR RCV000410739 OR RCV000412263 OR RCV000586945 OR RCV002477223 OR RCV002514382 OR RCV004739344" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000078563, RCV000410739, RCV000412263, RCV000586945, RCV002477223, RCV002514382, RCV004739344" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000078563...</a>
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<p>In a patient (PBD098) with Zellweger syndrome (PBD3A; <a href="/entry/614859">614859</a>) who died at the age of 1 month, <a href="#1" class="mim-tip-reference" title="Chang, C.-C., Gould, S. J. <strong>Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.</strong> Am. J. Hum. Genet. 63: 1294-1306, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792857</a>] [<a href="https://doi.org/10.1086/302103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792857">Chang and Gould (1998)</a> identified compound heterozygosity for a premature termination mutation (R180X; <a href="#0005">601758.0005</a>) and a 2-bp deletion in exon 3, c.887_888delTC, that resulted in frameshift after amino acid residue 296 and termination after an additional 11 amino acids. Patient fibroblasts were completely deficient in peroxisomal matrix protein import. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792857" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Konkolova, J., Petrovic, R., Chandoga, J., Halasova, E., Jungova, P., Bohmer, D. <strong>A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder.</strong> Molec. Biol. Rep. 42: 1359-1363, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26094004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26094004</a>] [<a href="https://doi.org/10.1007/s11033-015-3885-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26094004">Konkolova et al. (2015)</a> detected the c.887_888delTC mutation in compound heterozygosity with a novel 2-bp duplication (c.767_768dupAT; <a href="#0012">601758.0012</a>) in a patient from Slovakia with Zellweger syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26094004" 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>.0012 PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1057519507 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057519507;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=rs1057519507" 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=rs1057519507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000416562" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000416562" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000416562</a>
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<p>In a patient from Slovakia with Zellweger syndrome (PBD3A; <a href="/entry/614859">614859</a>) who died at the age of 23 days, <a href="#8" class="mim-tip-reference" title="Konkolova, J., Petrovic, R., Chandoga, J., Halasova, E., Jungova, P., Bohmer, D. <strong>A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder.</strong> Molec. Biol. Rep. 42: 1359-1363, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26094004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26094004</a>] [<a href="https://doi.org/10.1007/s11033-015-3885-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26094004">Konkolova et al. (2015)</a> detected a novel 2-bp duplication (c.767_768dupAT) in exon 3 of the PEX12 gene, in compound heterozygosity with a 2-bp deletion (c.887_888delTC; <a href="#0011">601758.0011</a>). The duplication resulted in a frameshift after phe256 followed by premature termination after an additional 22 amino acids, truncating the C-terminal zinc-binding domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26094004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Chang1998" class="mim-anchor"></a>
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Chang, C.-C., Gould, S. J.
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<strong>Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.</strong>
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Am. J. Hum. Genet. 63: 1294-1306, 1998.
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[<a href="https://doi.org/10.1086/302103" target="_blank">Full Text</a>]
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Chang, C.-C., Lee, W.-H., Moser, H., Valle, D., Gould, S. J.
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<strong>Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.</strong>
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[<a href="https://doi.org/10.1038/ng0497-385" target="_blank">Full Text</a>]
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Christensen, E., Van Eldere, J., Brandt, N. J., Schutgens, R. B. H., Wanders, R. J. A., Eyssen, H. J.
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<strong>A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2122101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2122101</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2122101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01799396" target="_blank">Full Text</a>]
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Gootjes, J., Schmohl, F., Mooijer, P. A. W., Dekker, C., Mandel, H., Topcu, M., Huemer, M., von Schutz, M., Marquardt, T., Smeitink, J. A., Waterham, H. R., Wanders, R. J. A.
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<strong>Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.</strong>
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Hum. Mutat. 24: 130-139, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15241794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15241794</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15241794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20062" target="_blank">Full Text</a>]
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Gootjes, J., Schmohl, F., Waterham, H. R., Wanders, R. J. A.
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<strong>Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.</strong>
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Europ. J. Hum. Genet. 12: 115-120, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14571262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14571262</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14571262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gootjes, J., Skovby, F., Christensen, E., Wanders, R. J. A., Ferdinandusse, S.
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<strong>Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder.</strong>
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Neurology 62: 2077-2081, 2004.
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[<a href="https://doi.org/10.1212/01.wnl.0000127576.26352.d1" target="_blank">Full Text</a>]
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Kalish, J. E., Keller, G. A., Morrell, J. C., Mihalik, S. J., Smith, B., Cregg, J. M., Gould, S. J.
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Konkolova, J., Petrovic, R., Chandoga, J., Halasova, E., Jungova, P., Bohmer, D.
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<strong>A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder.</strong>
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Molec. Biol. Rep. 42: 1359-1363, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26094004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26094004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26094004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Okumoto, K., Fujiki, Y.
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[<a href="https://doi.org/10.1038/ng1197-265" target="_blank">Full Text</a>]
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Okumoto, K., Shimozawa, N., Kawai, A., Tamura, S., Tsukamoto, T., Osumi, T., Moser, H., Wanders, R. J. A., Suzuki, Y., Kondo, N., Fujiki, Y.
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[<a href="https://doi.org/10.1128/MCB.18.7.4324" target="_blank">Full Text</a>]
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Preuss, N., Brosius, U., Biermanns, M., Muntau, A. C., Conzelmann, E., Gartner, J.
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<strong>PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12032265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12032265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12032265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 02/03/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 01/31/2017<br>Cassandra L. Kniffin - updated : 8/17/2005<br>Cassandra L. Kniffin - updated : 9/9/2004<br>Victor A. McKusick - updated : 9/2/2004<br>Ada Hamosh - updated : 9/25/2000<br>Victor A. McKusick - updated : 12/7/1998<br>David Valle - edited : 6/23/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 4/15/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/18/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 11/15/2019<br>carol : 02/06/2017<br>alopez : 02/03/2017<br>alopez : 01/31/2017<br>carol : 09/20/2016<br>mcolton : 07/13/2015<br>alopez : 10/25/2012<br>alopez : 10/24/2012<br>terry : 12/14/2005<br>wwang : 8/23/2005<br>ckniffin : 8/17/2005<br>joanna : 12/20/2004<br>carol : 9/9/2004<br>ckniffin : 9/9/2004<br>alopez : 9/5/2004<br>terry : 9/2/2004<br>joanna : 3/17/2004<br>mgross : 10/7/2002<br>alopez : 10/3/2000<br>terry : 9/25/2000<br>carol : 12/11/1998<br>dkim : 12/11/1998<br>terry : 12/7/1998<br>carol : 3/21/1998<br>mark : 6/23/1997<br>joanna : 6/23/1997<br>mark : 4/21/1997<br>mark : 4/21/1997
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</span>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 601758
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PEROXISOME BIOGENESIS FACTOR 12; PEX12
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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PEROXIN 12
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PEX12</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 17q12
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:35,574,795-35,578,571 </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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<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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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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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="2">
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<span class="mim-font">
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17q12
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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 3A (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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614859
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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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<tr>
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<td>
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<span class="mim-font">
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Peroxisome biogenesis disorder 3B
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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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266510
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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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</table>
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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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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Chang et al. (1997) identified a human ortholog of yeast PEX12 by screening the public database of expressed sequence tags (ESTs) for cDNAs encoding a protein similar to the yeast PEX12 protein. The human gene encodes a predicted 359-amino acid protein with a molecular mass of approximately 40 kD. Although its sequence similarity to yeast PEX12 is limited, the human PEX12 protein is also an integral peroxisomal membrane protein. Like the yeast protein, human peroxin-12 has 2 membrane-spanning domains and a C3HC4 zinc-binding motif extending out into the cytosol. This ring-finger domain is essential for the function of PEX12 (Kalish et al., 1996). </p><p>Okumoto and Fujiki (1997) independently cloned a human PEX12 cDNA. Okumoto et al. (1998) determined that the PEX12 protein exposes both N- and C-terminal regions to the cytosol. </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>Chang et al. (1997) found that PEX12 expression restored peroxisomal protein import in fibroblasts from PBD patients of complementation group 3 (CG3), and they identified frameshift mutations in PEX12 in 2 unrelated CG3 patients (e.g., 601758.0001). </p><p>Okumoto and Fujiki (1997) identified a homozygous nonsense mutation in the PEX12 gene (601758.0004) resulting in PEX12 deficiency. </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>Genotype/Phenotype Correlations</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>Chang and Gould (1998) demonstrated that all patients from complementation group 3 of the peroxisome biogenesis disorder carry mutations in PEX12. A comparison between PEX12 genotypes and the clinical and cellular phenotypes of the corresponding PBD patients suggested a relatively straightforward relationship between genotype and phenotype in this group of the PBDs, such that the loss of PEX12 function leads to more severe cellular and clinical phenotypes. </p><p>Gootjes et al. (2004) reported 5 PBD patients with mutations in the PEX12 gene. Four patients with a severe phenotype had mutations that disrupted the protein and eliminated at least the last zinc-binding domain. One patient with a milder phenotype had an allele that was capable of producing a protein with the zinc-binding domain (see 601758.0009). </p><p>Gootjes et al. (2004) reported the biochemical characteristics and molecular basis of a subset of atypical PBD patients. These patients were characterized by abnormal peroxisomal plasma metabolites, but otherwise normal to very mildly abnormal peroxisomal parameters in cultured skin fibroblasts, including a mosaic catalase immunofluorescence pattern in fibroblasts. Since the latter feature made standard complementation analysis impossible, the authors used a novel complementation technique in which fibroblasts were cultured at 40 degrees Celsius, which exacerbates the defect in peroxisome biogenesis. Using this method, they assigned 8 patients to complementation group 3, followed by identification of a single homozygous mutation in the PEX12 gene (601758.0006). </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>
|
|
<strong>12 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER)</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
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PEX12, 4-BP INS, 733GCCT
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|
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<br />
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|
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SNP: rs61752107,
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|
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gnomAD: rs61752107,
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|
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ClinVar: RCV000409475, RCV000410995, RCV000728570, RCV000781710, RCV003335311
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|
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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 fibroblasts from a patient (PBD097) with peroxisome biogenesis disorder of complementation group 3 (PBD3A; 614859), Chang et al. (1997) identified compound heterozygosity for a 4-bp insertion after nucleotide 733 of the PEX12 gene and a single T insertion after nucleotide 744 (601758.0002). The 4-bp insertion creates a new Cac8I restriction site. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER)</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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PEX12, 1-BP INS, 744T
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<br />
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|
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SNP: rs61752108,
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|
|
gnomAD: rs61752108,
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|
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ClinVar: RCV000669254, RCV001008292, RCV001174916, RCV001333351
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|
|
</span>
|
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</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp insertion after nucleotide 744 in the PEX12 gene that was found in compound heterozygous state in fibroblasts from a patient (PBD097) with peroxisome biogenesis disorder of complementation group 3 (PBD3A; 614859) by Chang et al. (1997), see 601758.0001. This insertion eliminates an AccI restriction site in the PEX12 gene. </p>
|
|
</span>
|
|
</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>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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PEX12, 4-BP DEL, 684TAGT
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<br />
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SNP: rs62642859,
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gnomAD: rs62642859,
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ClinVar: RCV000410147, RCV000412130
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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 (PBD040) with peroxisome biogenesis disorder of complementation group 3 (PBD3A; 614859), Chang et al. (1997) identified a 4-bp frameshift mutation in the PEX12 gene. No other PEX12 allele was identified in this patient. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
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<strong>.0004 PEROXISOMAL BIOGENESIS DISORDER 3A (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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PEX12, LYS231TER
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<br />
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SNP: rs104894616,
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ClinVar: RCV000008215
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a patient (PBD3-02) with peroxisome biogenesis disorder of complementation group 3 (PBD3A; 614859), Okumoto and Fujiki (1997) identified homozygosity for an A-to-T transversion in the PEX12 gene, resulting in a termination codon being substituted for lysine at codon 231. Transfection of the patient's PEX12 into a PEX12-deficient cell line did not restore peroxisomes. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0005 PEROXISOMAL BIOGENESIS DISORDER 3A (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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PEROXISOMAL BIOGENESIS DISORDER 3B, INCLUDED
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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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PEX12, ARG180TER
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<br />
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SNP: rs61752103,
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|
|
gnomAD: rs61752103,
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ClinVar: RCV000008216, RCV000032926, RCV000666018, RCV001193474
|
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|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a patient (PBD3-03) with peroxisome biogenesis disorder of complementation group 3 (PBD3A; 614859), Okumoto et al. (1998) identified homozygosity for a 538C-T transition in the PEX12 gene, changing arginine at 180 to a termination codon (R180X). This mutation was incorrectly identified as arg180-to-thr in the abstract. </p><p>Chang and Gould (1998) found the R180X mutation in compound heterozygosity in 2 patients with Zellweger syndrome (PBD006, PBD098). </p><p>Gootjes et al. (2004) found this mutation in compound heterozygosity with a missense mutation (L317F; 601758.0010) in a patient with a mild form of peroxisome biogenesis disorder of complementation group 3 (PBD3B; 266510). This patient was alive at the age of 22 years. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0006 PEROXISOMAL BIOGENESIS DISORDER 3B</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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PEX12, SER320PHE
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<br />
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SNP: rs28936697,
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gnomAD: rs28936697,
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ClinVar: RCV000008217, RCV000415755, RCV000625796, RCV002281700
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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>Gootjes et al. (2004) identified a 959C-T transition in the PEX12 gene, resulting in a ser320-to-phe (S320F) substitution, in 8 PBD patients with atypical features (PBD3B; 266510). The PEX12-S320F patients displayed a relatively mild phenotype compared with the whole PBD spectrum. When compared to mild PEX1-G843D patients (602136.0001), as described by Preuss et al. (2002), they displayed fewer dysmorphic features and ocular abnormalities, although their cerebral and liver abnormalities were similar. </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>.0007 PEROXISOMAL BIOGENESIS DISORDER 3B</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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PEX12, 2-BP DEL, 26CA
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<br />
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SNP: rs61752097,
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ClinVar: RCV000008218
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a patient (PBD099) with a mild form of peroxisome biogenesis disorder of complementation group 3 (PBD3B; 266510), Chang and Gould (1998) identified compound heterozygosity for 2 mutations in the PEX12 gene: a 2-bp deletion (26delCA) early in the coding region and a splice site mutation (601758.0008). PEX12 mRNA present in the patient's cells was derived from only the allele with the 2-bp deletion. The deduced protein product of this mRNA would contain only the first 8 amino acids of the protein, but functional expression studies showed that the mutant PEX12 protein retained significant residual activity, approximately one-seventh that of the wildtype protein. Further analysis showed that the 2-bp mutation resulted in the synthesis of a 29-kD PEX12 protein in vitro, consistent with translation initiation at a downstream internal AUG codon. The authors noted that translation initiation at internal AUG codons may modulate disease phenotypes and should be considered when unexpectedly mild phenotypes result from predicated 'severe' mutations early in the coding region. </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>.0008 PEROXISOMAL BIOGENESIS DISORDER 3B</strong>
|
|
</span>
|
|
</h4>
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|
</div>
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<div>
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<span class="mim-text-font">
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PEX12, IVS1DS, G-T, +1
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<br />
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SNP: rs202143236,
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gnomAD: rs202143236,
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|
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ClinVar: RCV000008219
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the PEX12 gene that was found in compound heterozygous state in a patient (PBD099) with a mild form of peroxisome biogenesis disorder of complementation group 3 (PBD3B; 266510) by Chang and Gould (1998), see 601758.0007. </p>
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|
</span>
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|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 PEROXISOMAL BIOGENESIS DISORDER 3B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
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|
PEX12, ARG91SER
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<br />
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|
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SNP: rs28936698,
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|
|
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|
|
|
|
ClinVar: RCV000008220
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (PEX12-02) with a mild form of peroxisome biogenesis disorder of complementation group 3 (PBD3B; 266510), Gootjes et al. (2004) identified a homozygous 273A-T transversion in the PEX12 gene, resulting in an arg91-to-ser (R91S) substitution in the N terminus. The levels of PEX12 mRNA were relatively normal. Biochemical studies showed that the patient's cells had normal levels of dihydroxyacetonephosphate acyltransferase (DHAPAT) activity. The missense mutation, compared to frameshift or nonsense mutations, is predicted to result in a full-length protein that retains the transmembrane domains and the zinc-binding domain. Gootjes et al. (2004) noted the genotype/phenotype correlation between a milder phenotype and the residual protein activity. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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|
|
<div>
|
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 PEROXISOMAL BIOGENESIS DISORDER 3B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX12, LEU317PHE
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|
<br />
|
|
|
|
SNP: rs61752112,
|
|
|
|
|
|
|
|
ClinVar: RCV000008221, RCV000675048
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with a mild form of peroxisome biogenesis disorder of complementation group 3 (PBD3B; 266510), Gootjes et al. (2004) identified compound heterozygosity for 2 mutations in the PEX12 gene: a 949C-T transition, resulting in a leu317-to-phe (L317F) substitution in the zinc-binding domain of the protein, and an R180X (601758.0005) substitution. Although biochemical analyses of the patient's plasma suggested the presence of a peroxisomal disorder, studies of the patient's fibroblasts were normal, suggesting that the defect was organ-specific. Christensen et al. (1990) had previously diagnosed the patient with a deficiency of trihydroxycholestanoyl-CoA oxidase, which Gootjes et al. (2004) excluded as a distinct disease entity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX12, 2-BP DEL, 887TC
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398123301,
|
|
|
|
|
|
gnomAD: rs398123301,
|
|
|
|
|
|
ClinVar: RCV000078563, RCV000410739, RCV000412263, RCV000586945, RCV002477223, RCV002514382, RCV004739344
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (PBD098) with Zellweger syndrome (PBD3A; 614859) who died at the age of 1 month, Chang and Gould (1998) identified compound heterozygosity for a premature termination mutation (R180X; 601758.0005) and a 2-bp deletion in exon 3, c.887_888delTC, that resulted in frameshift after amino acid residue 296 and termination after an additional 11 amino acids. Patient fibroblasts were completely deficient in peroxisomal matrix protein import. </p><p>Konkolova et al. (2015) detected the c.887_888delTC mutation in compound heterozygosity with a novel 2-bp duplication (c.767_768dupAT; 601758.0012) in a patient from Slovakia with Zellweger syndrome. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX12, 2-BP DUP, 767AT
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1057519507,
|
|
|
|
|
|
|
|
ClinVar: RCV000416562
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient from Slovakia with Zellweger syndrome (PBD3A; 614859) who died at the age of 23 days, Konkolova et al. (2015) detected a novel 2-bp duplication (c.767_768dupAT) in exon 3 of the PEX12 gene, in compound heterozygosity with a 2-bp deletion (c.887_888delTC; 601758.0011). The duplication resulted in a frameshift after phe256 followed by premature termination after an additional 22 amino acids, truncating the C-terminal zinc-binding domain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
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|
|
|
</div>
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|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
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|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chang, C.-C., Gould, S. J.
|
|
<strong>Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.</strong>
|
|
Am. J. Hum. Genet. 63: 1294-1306, 1998.
|
|
|
|
|
|
[PubMed: 9792857]
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|
[Full Text: https://doi.org/10.1086/302103]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Chang, C.-C., Lee, W.-H., Moser, H., Valle, D., Gould, S. J.
|
|
<strong>Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.</strong>
|
|
Nature Genet. 15: 385-388, 1997.
|
|
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|
|
[PubMed: 9090384]
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[Full Text: https://doi.org/10.1038/ng0497-385]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Christensen, E., Van Eldere, J., Brandt, N. J., Schutgens, R. B. H., Wanders, R. J. A., Eyssen, H. J.
|
|
<strong>A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency.</strong>
|
|
J. Inherit. Metab. Dis. 13: 363-366, 1990.
|
|
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|
[PubMed: 2122101]
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[Full Text: https://doi.org/10.1007/BF01799396]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gootjes, J., Schmohl, F., Mooijer, P. A. W., Dekker, C., Mandel, H., Topcu, M., Huemer, M., von Schutz, M., Marquardt, T., Smeitink, J. A., Waterham, H. R., Wanders, R. J. A.
|
|
<strong>Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.</strong>
|
|
Hum. Mutat. 24: 130-139, 2004.
|
|
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|
|
[PubMed: 15241794]
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|
[Full Text: https://doi.org/10.1002/humu.20062]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gootjes, J., Schmohl, F., Waterham, H. R., Wanders, R. J. A.
|
|
<strong>Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.</strong>
|
|
Europ. J. Hum. Genet. 12: 115-120, 2004.
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|
[PubMed: 14571262]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201090]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gootjes, J., Skovby, F., Christensen, E., Wanders, R. J. A., Ferdinandusse, S.
|
|
<strong>Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder.</strong>
|
|
Neurology 62: 2077-2081, 2004.
|
|
|
|
|
|
[PubMed: 15184617]
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|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000127576.26352.d1]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kalish, J. E., Keller, G. A., Morrell, J. C., Mihalik, S. J., Smith, B., Cregg, J. M., Gould, S. J.
|
|
<strong>Characterization of a novel component of the peroxisomal protein import apparatus using fluorescent peroxisomal proteins.</strong>
|
|
EMBO J. 15: 3275-3285, 1996.
|
|
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|
|
[PubMed: 8670828]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Konkolova, J., Petrovic, R., Chandoga, J., Halasova, E., Jungova, P., Bohmer, D.
|
|
<strong>A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder.</strong>
|
|
Molec. Biol. Rep. 42: 1359-1363, 2015.
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|
|
[PubMed: 26094004]
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|
|
[Full Text: https://doi.org/10.1007/s11033-015-3885-7]
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</p>
|
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</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Okumoto, K., Fujiki, Y.
|
|
<strong>PEX12 encodes an integral membrane protein of peroxisomes. (Letter)</strong>
|
|
Nature Genet. 17: 265-266, 1997.
|
|
|
|
|
|
[PubMed: 9354782]
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|
|
[Full Text: https://doi.org/10.1038/ng1197-265]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Okumoto, K., Shimozawa, N., Kawai, A., Tamura, S., Tsukamoto, T., Osumi, T., Moser, H., Wanders, R. J. A., Suzuki, Y., Kondo, N., Fujiki, Y.
|
|
<strong>PEX12, the pathogenic gene of group III Zellweger syndrome: DNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of Pex12p.</strong>
|
|
Molec. Cell. Biol. 18: 4324-4336, 1998.
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|
|
|
|
|
[PubMed: 9632816]
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|
|
[Full Text: https://doi.org/10.1128/MCB.18.7.4324]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Preuss, N., Brosius, U., Biermanns, M., Muntau, A. C., Conzelmann, E., Gartner, J.
|
|
<strong>PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.</strong>
|
|
Pediat. Res. 51: 706-714, 2002.
|
|
|
|
|
|
[PubMed: 12032265]
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|
|
[Full Text: https://doi.org/10.1203/00006450-200206000-00008]
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</p>
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</li>
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</ol>
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<div>
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<br />
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Anne M. Stumpf - updated : 02/03/2017<br>Anne M. Stumpf - updated : 01/31/2017<br>Cassandra L. Kniffin - updated : 8/17/2005<br>Cassandra L. Kniffin - updated : 9/9/2004<br>Victor A. McKusick - updated : 9/2/2004<br>Ada Hamosh - updated : 9/25/2000<br>Victor A. McKusick - updated : 12/7/1998<br>David Valle - edited : 6/23/1997
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Victor A. McKusick : 4/15/1997
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carol : 11/18/2019<br>alopez : 11/15/2019<br>carol : 02/06/2017<br>alopez : 02/03/2017<br>alopez : 01/31/2017<br>carol : 09/20/2016<br>mcolton : 07/13/2015<br>alopez : 10/25/2012<br>alopez : 10/24/2012<br>terry : 12/14/2005<br>wwang : 8/23/2005<br>ckniffin : 8/17/2005<br>joanna : 12/20/2004<br>carol : 9/9/2004<br>ckniffin : 9/9/2004<br>alopez : 9/5/2004<br>terry : 9/2/2004<br>joanna : 3/17/2004<br>mgross : 10/7/2002<br>alopez : 10/3/2000<br>terry : 9/25/2000<br>carol : 12/11/1998<br>dkim : 12/11/1998<br>terry : 12/7/1998<br>carol : 3/21/1998<br>mark : 6/23/1997<br>joanna : 6/23/1997<br>mark : 4/21/1997<br>mark : 4/21/1997
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