2648 lines
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Entry
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- *603867 - PEROXISOME BIOGENESIS FACTOR 11B; PEX11B
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- OMIM
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<p>
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<span class="h4">*603867</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<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="#geneFunction">Gene Function</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="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603867">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000131779;t=ENST00000369306" 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=8799" 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=603867" 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>
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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=ENSG00000131779;t=ENST00000369306" 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_001184795,NM_003846,NR_073491,NR_073492,NR_073493" 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_003846" 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=603867" 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=04844&isoform_id=04844_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/PEX11B" 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/3907594,3978557,4505719,15080426,49457047,62901069,119591828,119591829,193785812,193787629,194378056,296317239" 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/O96011" 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=8799" 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=ENSG00000131779;t=ENST00000369306" 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=PEX11B" 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=PEX11B" 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+8799" 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/PEX11B" 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:8799" 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/8799" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000369306.8&hgg_start=145911348&hgg_end=145918717&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8853" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:8853" 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=603867[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=603867[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://www.deciphergenomics.org/gene/PEX11B/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000131779" 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=PEX11B" 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=PEX11B" 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=PEX11B" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PEX11B&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/PA33195" 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:8853" 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/FBgn0034058.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:1338882" 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/PEX11B#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:1338882" 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/8799/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=8799" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060825-289" 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:8799" 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=PEX11B&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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603867
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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 11B; PEX11B
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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PEX11-BETA
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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=PEX11B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PEX11B</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
|
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/1/1024?start=-3&limit=10&highlight=1024">1q21.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:145911348-145918717&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:145,911,348-145,918,717</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/1/1024?start=-3&limit=10&highlight=1024">
|
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1q21.1
|
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</a>
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Peroxisome biogenesis disorder 14B
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/614920"> 614920 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/603867" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/603867" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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<p>Mammalian cells contain hundreds of peroxisomes under normal growth conditions, suggesting that there are constitutive mechanisms for raising peroxisome abundance above 1 per cell. By searching an EST database with the amino acid sequence of S. cerevisiae Pex11, <a href="#5" class="mim-tip-reference" title="Schrader, M., Reuber, B. E., Morrell, J. C., Jimenez-Sanchez, G., Obie, C., Stroh, T. A., Valle, D., Schroer, T. A., Gould, S. J. <strong>Expression of PEX11-beta mediates peroxisome proliferation in the absence of extracellular stimuli.</strong> J. Biol. Chem. 273: 29607-29614, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792670</a>] [<a href="https://doi.org/10.1074/jbc.273.45.29607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792670">Schrader et al. (1998)</a> identified cDNAs derived from a human homolog of Pex11. The closest relative of the encoded human protein was the product of a second human gene; the authors designated the 2 human genes PEX11-alpha (<a href="/entry/603866">603866</a>) and PEX11-beta. The deduced 259-amino acid PEX11-beta protein shares approximately 20% amino acid identity with yeast Pex11. PEX11-beta has 2 predicted membrane-spanning domains, 1 at its C terminus and a second located approximately 100 amino acids from its N terminus. The termini of PEX11-beta are predicted to extend into the cytoplasm. Localization studies indicated that PEX11-beta is a peroxisomal protein. Northern blot analysis of rat tissues showed that Pex11-beta mRNA levels were similar in all tissues examined and were unaffected by peroxisome-proliferating agents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792670" 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="Abe, I., Fujiki, Y. <strong>cDNA cloning and characterization of a constitutively expressed isoform of the human peroxin Pex11p.</strong> Biochem. Biophys. Res. Commun. 252: 529-533, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9826565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9826565</a>] [<a href="https://doi.org/10.1006/bbrc.1998.9684" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9826565">Abe and Fujiki (1998)</a> cloned human PEX11-beta cDNAs. The deduced PEX11-alpha and PEX11-beta proteins are approximately 40% identical. Northern blot analysis detected a 2-kb PEX11-beta transcript. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9826565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Schrader, M., Reuber, B. E., Morrell, J. C., Jimenez-Sanchez, G., Obie, C., Stroh, T. A., Valle, D., Schroer, T. A., Gould, S. J. <strong>Expression of PEX11-beta mediates peroxisome proliferation in the absence of extracellular stimuli.</strong> J. Biol. Chem. 273: 29607-29614, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792670</a>] [<a href="https://doi.org/10.1074/jbc.273.45.29607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792670">Schrader et al. (1998)</a> found that overexpression of PEX11-beta in human cells was sufficient to induce peroxisome proliferation, demonstrating that proliferation can occur in the absence of extracellular stimuli and may be mediated by a single gene. Time course studies indicated that PEX11-beta induced peroxisome proliferation through a multistep process involving peroxisome elongation and segregation of PEX11-beta from other peroxisomal membrane proteins, followed by peroxisome division. <a href="#5" class="mim-tip-reference" title="Schrader, M., Reuber, B. E., Morrell, J. C., Jimenez-Sanchez, G., Obie, C., Stroh, T. A., Valle, D., Schroer, T. A., Gould, S. J. <strong>Expression of PEX11-beta mediates peroxisome proliferation in the absence of extracellular stimuli.</strong> J. Biol. Chem. 273: 29607-29614, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792670</a>] [<a href="https://doi.org/10.1074/jbc.273.45.29607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792670">Schrader et al. (1998)</a> suggested that PEX11-beta may control constitutive peroxisome abundance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792670" 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="Li, X., Gould, S. J. <strong>The dynamin-like GTPase DLP1 is essential for peroxisome division and is recruited to peroxisomes in part by PEX11.</strong> J. Biol. Chem. 278: 17012-17020, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618434</a>] [<a href="https://doi.org/10.1074/jbc.M212031200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12618434">Li and Gould (2003)</a> showed that dynamin-like protein-1 (DLP1, or DNM1L; <a href="/entry/603850">603850</a>) was essential for peroxisome division induced by overexpression of PEX11-beta in human fibroblasts. The 710-amino acid DLP1 isoform, DLP1a, associated with peroxisomes, and PEX11-beta overexpression recruited DLP1a to peroxisome membranes. DLP1a and PEX11 proteins did not appear to interact directly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12618434" 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="Ebberink, M. S., Koster, J., Visser, G., van Spronsen, F., Stolte-Dijkstra, I., Smit, G. P. A., Fock, J. M., Kemp, S., Wanders, R. J. A., Waterham, H. R. <strong>A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11-beta gene.</strong> J. Med. Genet. 49: 307-313, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581968</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100778" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22581968">Ebberink et al. (2012)</a> identified a 26-year-old Dutch man with homozygosity for a nonsense mutation in the PEX11-beta gene (Q22R; <a href="#0001">603867.0001</a>). He had a defect in peroxisome division causing a phenotype consistent with a peroxisome biogenesis disorder (PEX14B; <a href="/entry/614920">614920</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22581968" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a brother and sister with PEX14B, <a href="#6" class="mim-tip-reference" title="Tian, Y., Zhang, L., Li, Y., Gao, J., Yu, H., Guo, Y., Jia, L. <strong>Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing.</strong> Molec. Genet. Genomic Med. 8: e1042, 2020. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31724321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31724321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31724321[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/10.1002/mgg3.1042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31724321">Tian et al. (2020)</a> identified a homozygous nonsense mutation (R93X; <a href="#0002">603867.0002</a>) in the PEX11B gene. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. No functional studies were reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31724321" 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>Using gene targeting, <a href="#3" class="mim-tip-reference" title="Li, X., Baumgart, E., Morrell, J. C., Jimenez-Sanchez, G., Valle, D., Gould, S. J. <strong>PEX11-beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function.</strong> Molec. Cell. Biol. 22: 4358-4365, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12024045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12024045</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12024045[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.22.12.4358-4365.2002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12024045">Li et al. (2002)</a> generated mice lacking Pex11b. They observed neonatal lethality, intrauterine growth retardation, and hypotonia. Using histologic analysis, they determined that the Pex11b-deficient mice exhibited neuronal migration defects and a developmental delay characteristic of Zellweger syndrome (ZS; see <a href="/entry/214100">214100</a>) and ZS mouse models generated by disruption of Pex5 (<a href="/entry/600414">600414</a>) or Pex2 (<a href="/entry/170993">170993</a>). Using ultrastructural analysis, <a href="#3" class="mim-tip-reference" title="Li, X., Baumgart, E., Morrell, J. C., Jimenez-Sanchez, G., Valle, D., Gould, S. J. <strong>PEX11-beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function.</strong> Molec. Cell. Biol. 22: 4358-4365, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12024045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12024045</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12024045[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.22.12.4358-4365.2002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12024045">Li et al. (2002)</a> showed that, unlike ZS, Pex11b-deficiency did not result in defects in peroxisomal protein import or mitochondrial structure. Pex11b-deficient mice also had normal levels of brain very long chain fatty acids (VLCFAs), unlike the elevated levels seen in ZS. <a href="#3" class="mim-tip-reference" title="Li, X., Baumgart, E., Morrell, J. C., Jimenez-Sanchez, G., Valle, D., Gould, S. J. <strong>PEX11-beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function.</strong> Molec. Cell. Biol. 22: 4358-4365, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12024045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12024045</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12024045[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.22.12.4358-4365.2002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12024045">Li et al. (2002)</a> concluded that Pex11b deficiency represents a novel peroxisomal disorder that mimics major neurologic and developmental pathologic features of ZS but lacks many of its cellular and biochemical features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12024045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 26-year-old Dutch man with mild intellectual disability, congenital cataracts, progressive hearing loss, sensory nerve involvement, gastrointestinal problems, and recurrent migraine-like episodes (PBD14B; <a href="/entry/614920">614920</a>), <a href="#2" class="mim-tip-reference" title="Ebberink, M. S., Koster, J., Visser, G., van Spronsen, F., Stolte-Dijkstra, I., Smit, G. P. A., Fock, J. M., Kemp, S., Wanders, R. J. A., Waterham, H. R. <strong>A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11-beta gene.</strong> J. Med. Genet. 49: 307-313, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581968</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100778" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22581968">Ebberink et al. (2012)</a> identified a C-to-T transition at nucleotide 64 of the PEX11B gene, resulting in a glutamine-to-termination substitution at codon 22 (Q22X) in PEX11-beta. Both parents were heterozygous for this mutation. Immunoblot analysis of protein homogenates of the patient's fibroblasts detected no PEX11-beta protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22581968" 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> rs781939614 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs781939614;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/rs781939614?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=rs781939614" 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=rs781939614" 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=RCV000525555 OR RCV000729272" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000525555, RCV000729272" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000525555...</a>
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<p>In a 9-year-old Chinese proband and her younger brother with peroxisome biogenesis disorder-14B (PBD14B; <a href="/entry/614920">614920</a>), <a href="#6" class="mim-tip-reference" title="Tian, Y., Zhang, L., Li, Y., Gao, J., Yu, H., Guo, Y., Jia, L. <strong>Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing.</strong> Molec. Genet. Genomic Med. 8: e1042, 2020. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31724321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31724321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31724321[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/10.1002/mgg3.1042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31724321">Tian et al. (2020)</a> identified a homozygous c.277C-T transition (c.277C-T, NM_003846.2) in exon 3 of the PEX11B gene, resulting in an arg93-to-ter (R93X) substitution at a conserved site. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The variant was not present in the Shenzhou Genome, 1000 Genome Project, ExAC, or gnomAD databases. No functional studies were reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31724321" 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="1" class="mim-anchor"></a>
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<a id="Abe1998" class="mim-anchor"></a>
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Abe, I., Fujiki, Y.
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<strong>cDNA cloning and characterization of a constitutively expressed isoform of the human peroxin Pex11p.</strong>
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Biochem. Biophys. Res. Commun. 252: 529-533, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9826565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9826565</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9826565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.1998.9684" target="_blank">Full Text</a>]
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<a id="Ebberink2012" class="mim-anchor"></a>
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Ebberink, M. S., Koster, J., Visser, G., van Spronsen, F., Stolte-Dijkstra, I., Smit, G. P. A., Fock, J. M., Kemp, S., Wanders, R. J. A., Waterham, H. R.
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<strong>A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11-beta gene.</strong>
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J. Med. Genet. 49: 307-313, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581968</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22581968" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2012-100778" target="_blank">Full Text</a>]
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<a id="Li2002" class="mim-anchor"></a>
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Li, X., Baumgart, E., Morrell, J. C., Jimenez-Sanchez, G., Valle, D., Gould, S. J.
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<strong>PEX11-beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function.</strong>
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Molec. Cell. Biol. 22: 4358-4365, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12024045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12024045</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12024045[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12024045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/MCB.22.12.4358-4365.2002" target="_blank">Full Text</a>]
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<a id="Li2003" class="mim-anchor"></a>
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Li, X., Gould, S. J.
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<strong>The dynamin-like GTPase DLP1 is essential for peroxisome division and is recruited to peroxisomes in part by PEX11.</strong>
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J. Biol. Chem. 278: 17012-17020, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618434</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12618434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M212031200" target="_blank">Full Text</a>]
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<a id="Schrader1998" class="mim-anchor"></a>
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<p class="mim-text-font">
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Schrader, M., Reuber, B. E., Morrell, J. C., Jimenez-Sanchez, G., Obie, C., Stroh, T. A., Valle, D., Schroer, T. A., Gould, S. J.
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<strong>Expression of PEX11-beta mediates peroxisome proliferation in the absence of extracellular stimuli.</strong>
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J. Biol. Chem. 273: 29607-29614, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792670</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.273.45.29607" target="_blank">Full Text</a>]
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<a id="Tian2020" class="mim-anchor"></a>
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<p class="mim-text-font">
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Tian, Y., Zhang, L., Li, Y., Gao, J., Yu, H., Guo, Y., Jia, L.
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<strong>Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing.</strong>
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Molec. Genet. Genomic Med. 8: e1042, 2020. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31724321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31724321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31724321[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31724321" 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/mgg3.1042" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Hilary J. Vernon - updated : 11/11/2020
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<span class="mim-text-font">
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Ada Hamosh - updated : 11/2/2012<br>Patricia A. Hartz - updated : 1/19/2010<br>Dawn Watkins-Chow - updated : 8/23/2002
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Patti M. Sherman : 6/3/1999
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carol : 11/12/2020
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carol : 11/11/2020<br>alopez : 01/19/2017<br>alopez : 11/07/2012<br>terry : 11/2/2012<br>alopez : 10/25/2012<br>mgross : 1/25/2010<br>terry : 1/19/2010<br>tkritzer : 2/5/2003<br>tkritzer : 8/23/2002<br>mgross : 6/7/1999<br>mgross : 6/4/1999<br>psherman : 6/3/1999
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<strong>*</strong> 603867
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PEROXISOME BIOGENESIS FACTOR 11B; PEX11B
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PEX11-BETA
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Cytogenetic location: 1q21.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:145,911,348-145,918,717 </span>
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</strong>
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<span class="small">(from NCBI)</span>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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1q21.1
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Peroxisome biogenesis disorder 14B
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<span class="mim-font">
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614920
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>Mammalian cells contain hundreds of peroxisomes under normal growth conditions, suggesting that there are constitutive mechanisms for raising peroxisome abundance above 1 per cell. By searching an EST database with the amino acid sequence of S. cerevisiae Pex11, Schrader et al. (1998) identified cDNAs derived from a human homolog of Pex11. The closest relative of the encoded human protein was the product of a second human gene; the authors designated the 2 human genes PEX11-alpha (603866) and PEX11-beta. The deduced 259-amino acid PEX11-beta protein shares approximately 20% amino acid identity with yeast Pex11. PEX11-beta has 2 predicted membrane-spanning domains, 1 at its C terminus and a second located approximately 100 amino acids from its N terminus. The termini of PEX11-beta are predicted to extend into the cytoplasm. Localization studies indicated that PEX11-beta is a peroxisomal protein. Northern blot analysis of rat tissues showed that Pex11-beta mRNA levels were similar in all tissues examined and were unaffected by peroxisome-proliferating agents. </p><p>Abe and Fujiki (1998) cloned human PEX11-beta cDNAs. The deduced PEX11-alpha and PEX11-beta proteins are approximately 40% identical. Northern blot analysis detected a 2-kb PEX11-beta transcript. </p>
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<strong>Gene Function</strong>
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<p>Schrader et al. (1998) found that overexpression of PEX11-beta in human cells was sufficient to induce peroxisome proliferation, demonstrating that proliferation can occur in the absence of extracellular stimuli and may be mediated by a single gene. Time course studies indicated that PEX11-beta induced peroxisome proliferation through a multistep process involving peroxisome elongation and segregation of PEX11-beta from other peroxisomal membrane proteins, followed by peroxisome division. Schrader et al. (1998) suggested that PEX11-beta may control constitutive peroxisome abundance. </p><p>Li and Gould (2003) showed that dynamin-like protein-1 (DLP1, or DNM1L; 603850) was essential for peroxisome division induced by overexpression of PEX11-beta in human fibroblasts. The 710-amino acid DLP1 isoform, DLP1a, associated with peroxisomes, and PEX11-beta overexpression recruited DLP1a to peroxisome membranes. DLP1a and PEX11 proteins did not appear to interact directly. </p>
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<strong>Molecular Genetics</strong>
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<p>Ebberink et al. (2012) identified a 26-year-old Dutch man with homozygosity for a nonsense mutation in the PEX11-beta gene (Q22R; 603867.0001). He had a defect in peroxisome division causing a phenotype consistent with a peroxisome biogenesis disorder (PEX14B; 614920). </p><p>In a brother and sister with PEX14B, Tian et al. (2020) identified a homozygous nonsense mutation (R93X; 603867.0002) in the PEX11B gene. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. No functional studies were reported. </p>
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<strong>Animal Model</strong>
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<p>Using gene targeting, Li et al. (2002) generated mice lacking Pex11b. They observed neonatal lethality, intrauterine growth retardation, and hypotonia. Using histologic analysis, they determined that the Pex11b-deficient mice exhibited neuronal migration defects and a developmental delay characteristic of Zellweger syndrome (ZS; see 214100) and ZS mouse models generated by disruption of Pex5 (600414) or Pex2 (170993). Using ultrastructural analysis, Li et al. (2002) showed that, unlike ZS, Pex11b-deficiency did not result in defects in peroxisomal protein import or mitochondrial structure. Pex11b-deficient mice also had normal levels of brain very long chain fatty acids (VLCFAs), unlike the elevated levels seen in ZS. Li et al. (2002) concluded that Pex11b deficiency represents a novel peroxisomal disorder that mimics major neurologic and developmental pathologic features of ZS but lacks many of its cellular and biochemical features. </p>
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<strong>ALLELIC VARIANTS</strong>
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<strong>2 Selected Examples):</strong>
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<span class="mim-font">
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<strong>.0001 PEROXISOME BIOGENESIS DISORDER 14B</strong>
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PEX11B, GLN22TER
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<br />
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SNP: rs397515419,
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ClinVar: RCV000032935
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<p>In a 26-year-old Dutch man with mild intellectual disability, congenital cataracts, progressive hearing loss, sensory nerve involvement, gastrointestinal problems, and recurrent migraine-like episodes (PBD14B; 614920), Ebberink et al. (2012) identified a C-to-T transition at nucleotide 64 of the PEX11B gene, resulting in a glutamine-to-termination substitution at codon 22 (Q22X) in PEX11-beta. Both parents were heterozygous for this mutation. Immunoblot analysis of protein homogenates of the patient's fibroblasts detected no PEX11-beta protein. </p>
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<span class="mim-font">
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<strong>.0002 PEROXISOME BIOGENESIS DISORDER 14B</strong>
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<span class="mim-text-font">
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PEX11B, ARG93TER
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<br />
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SNP: rs781939614,
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gnomAD: rs781939614,
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ClinVar: RCV000525555, RCV000729272
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<span class="mim-text-font">
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<p>In a 9-year-old Chinese proband and her younger brother with peroxisome biogenesis disorder-14B (PBD14B; 614920), Tian et al. (2020) identified a homozygous c.277C-T transition (c.277C-T, NM_003846.2) in exon 3 of the PEX11B gene, resulting in an arg93-to-ter (R93X) substitution at a conserved site. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The variant was not present in the Shenzhou Genome, 1000 Genome Project, ExAC, or gnomAD databases. No functional studies were reported. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Abe, I., Fujiki, Y.
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<strong>cDNA cloning and characterization of a constitutively expressed isoform of the human peroxin Pex11p.</strong>
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Biochem. Biophys. Res. Commun. 252: 529-533, 1998.
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[PubMed: 9826565]
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[Full Text: https://doi.org/10.1006/bbrc.1998.9684]
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</li>
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<li>
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<p class="mim-text-font">
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Ebberink, M. S., Koster, J., Visser, G., van Spronsen, F., Stolte-Dijkstra, I., Smit, G. P. A., Fock, J. M., Kemp, S., Wanders, R. J. A., Waterham, H. R.
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<strong>A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11-beta gene.</strong>
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J. Med. Genet. 49: 307-313, 2012.
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[PubMed: 22581968]
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[Full Text: https://doi.org/10.1136/jmedgenet-2012-100778]
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</li>
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<li>
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<p class="mim-text-font">
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Li, X., Baumgart, E., Morrell, J. C., Jimenez-Sanchez, G., Valle, D., Gould, S. J.
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<strong>PEX11-beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function.</strong>
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Molec. Cell. Biol. 22: 4358-4365, 2002.
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[PubMed: 12024045]
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[Full Text: https://doi.org/10.1128/MCB.22.12.4358-4365.2002]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Li, X., Gould, S. J.
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<strong>The dynamin-like GTPase DLP1 is essential for peroxisome division and is recruited to peroxisomes in part by PEX11.</strong>
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J. Biol. Chem. 278: 17012-17020, 2003.
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[PubMed: 12618434]
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[Full Text: https://doi.org/10.1074/jbc.M212031200]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Schrader, M., Reuber, B. E., Morrell, J. C., Jimenez-Sanchez, G., Obie, C., Stroh, T. A., Valle, D., Schroer, T. A., Gould, S. J.
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<strong>Expression of PEX11-beta mediates peroxisome proliferation in the absence of extracellular stimuli.</strong>
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J. Biol. Chem. 273: 29607-29614, 1998.
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[PubMed: 9792670]
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[Full Text: https://doi.org/10.1074/jbc.273.45.29607]
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<li>
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<p class="mim-text-font">
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Tian, Y., Zhang, L., Li, Y., Gao, J., Yu, H., Guo, Y., Jia, L.
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<strong>Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing.</strong>
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Molec. Genet. Genomic Med. 8: e1042, 2020. Note: Electronic Article.
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[PubMed: 31724321]
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[Full Text: https://doi.org/10.1002/mgg3.1042]
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</li>
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</ol>
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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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Hilary J. Vernon - updated : 11/11/2020<br>Ada Hamosh - updated : 11/2/2012<br>Patricia A. Hartz - updated : 1/19/2010<br>Dawn Watkins-Chow - updated : 8/23/2002
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</span>
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<span class="mim-text-font">
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Patti M. Sherman : 6/3/1999
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carol : 11/12/2020<br>carol : 11/11/2020<br>alopez : 01/19/2017<br>alopez : 11/07/2012<br>terry : 11/2/2012<br>alopez : 10/25/2012<br>mgross : 1/25/2010<br>terry : 1/19/2010<br>tkritzer : 2/5/2003<br>tkritzer : 8/23/2002<br>mgross : 6/7/1999<br>mgross : 6/4/1999<br>psherman : 6/3/1999
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