3274 lines
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- *610657 - WASH COMPLEX, SUBUNIT 5; WASHC5
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- OMIM
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<p>
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<span class="h4">*610657</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<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/610657">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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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=ENSG00000164961;t=ENST00000318410" 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=9897" 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=610657" 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 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="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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<div 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=ENSG00000164961;t=ENST00000318410" 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_001330609,NM_014846,XM_011517409,XM_047422502,XM_047422503" 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_014846" 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=610657" 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=13786&isoform_id=13786_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/WASHC5" 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/2495719,20070788,62898988,76780195,119612486,119612487,119612488,120952851,158255500,194384708,767953897,929653819,1060604623,2217374006,2217374009,2462621910,2462621912,2462621914" 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/Q12768" 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=9897" 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=ENSG00000164961;t=ENST00000318410" 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=WASHC5" 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=WASHC5" 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+9897" 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/WASHC5" 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:9897" 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/9897" 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=chr8&hgg_gene=ENST00000318410.12&hgg_start=125024260&hgg_end=125091792&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:28984" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/washc5" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=610657[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=610657[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/ENSG00000164961" 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=WASHC5" 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=WASHC5" 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=WASHC5" 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=WASHC5&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/PA142671624" 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:28984" 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/FBgn0036571.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:2146110" 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/WASHC5#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:2146110" 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/9897/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=9897" 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=WBGene00020259;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-040426-838" 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:9897" 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=WASHC5&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 785305006<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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610657
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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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WASH COMPLEX, SUBUNIT 5; WASHC5
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</span>
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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KIAA0196<br />
|
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STRUMPELLIN
|
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</span>
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=WASHC5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">WASHC5</a></em></strong>
|
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/8/538?start=-3&limit=10&highlight=538">8q24.13</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr8:125024260-125091792&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'})">8:125,024,260-125,091,792</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
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|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=220210,603563" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/8/538?start=-3&limit=10&highlight=538">
|
|
8q24.13
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Ritscher-Schinzel syndrome 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/220210"> 220210 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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|
</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Spastic paraplegia 8, autosomal dominant
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/603563"> 603563 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
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</tbody>
|
|
</table>
|
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</div>
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</div>
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<div>
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<p>The WASHC5 gene encodes strumpellin, a 134-kD protein that is ubiquitously expressed in cytosolic and endoplasmic reticulum cell fractions (summary by <a href="#1" class="mim-tip-reference" title="Clemen, C. S., Tangavelou, K., Strucksberg, K.-H., Just, S., Gaertner, L., Regus-Leidig, H., Stumpf, M., Reimann, J., Coras, R., Morgan, R. O., Fernandez, M.-P., Hofmann, A., Muller, S., Schoser, B., Hanisch, F.-G., Rottbauer, W., Blumcke, I., von Horsten, S., Eichinger, L., Schroder, R. <strong>Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.</strong> Brain 133: 2920-2941, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20833645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20833645</a>] [<a href="https://doi.org/10.1093/brain/awq222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20833645">Clemen et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20833645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from an immature myeloid leukemia cell line cDNA library, <a href="#6" class="mim-tip-reference" title="Nagase, T., Seki, N., Ishikawa, K., Tanaka, A., Nomura, N. <strong>Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1.</strong> DNA Res. 3: 17-24, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8724849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8724849</a>] [<a href="https://doi.org/10.1093/dnares/3.1.17" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8724849">Nagase et al. (1996)</a> cloned KIAA0196. The deduced 1,159-amino acid protein contains putative transmembrane domains. Northern blot analysis detected KIAA0196 expression in all tissues and cell lines examined, with highest expression in skeletal muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8724849" 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="Clemen, C. S., Tangavelou, K., Strucksberg, K.-H., Just, S., Gaertner, L., Regus-Leidig, H., Stumpf, M., Reimann, J., Coras, R., Morgan, R. O., Fernandez, M.-P., Hofmann, A., Muller, S., Schoser, B., Hanisch, F.-G., Rottbauer, W., Blumcke, I., von Horsten, S., Eichinger, L., Schroder, R. <strong>Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.</strong> Brain 133: 2920-2941, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20833645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20833645</a>] [<a href="https://doi.org/10.1093/brain/awq222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20833645">Clemen et al. (2010)</a> found ubiquitous expression of the KIAA0196 gene in all human tissues analyzed. The protein was primarily present in cytosolic and endoplasmic reticulum membrane fractions. In the human hippocampus and ventral spinal cord, it colocalized with the presynaptic protein synaptophysin (SYP; <a href="/entry/313475">313475</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20833645" 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="#7" class="mim-tip-reference" title="Porkka, K. P., Tammela, T. L. J., Vessella, R. L., Visakorpi, T. <strong>RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer.</strong> Genes Chromosomes Cancer 39: 1-10, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14603436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14603436</a>] [<a href="https://doi.org/10.1002/gcc.10289" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14603436">Porkka et al. (2004)</a> used microarray analysis, quantitative RT-PCR, and FISH to identify genes that were amplified and overexpressed in prostate cancer (<a href="/entry/176807">176807</a>). They found that KIAA0196, RAD21 (<a href="/entry/606462">606462</a>), and CHRAC1 (<a href="/entry/607268">607268</a>) were amplified in several prostate cancer cell lines and hormone-refractory prostate tumors. However, only amplification of KIAA0196 was associated with overexpression in tumor samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14603436" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The product of the KIAA0196 gene is the protein strumpellin (<a href="#8" class="mim-tip-reference" title="Valdmanis, P. N., Meijer, I. A., Reynolds, A., Lei, A, MacLeod, P., Schlesinger, D., Zatz, M., Reid, E., Dion, P. A., Drapeau, P., Rouleau, G. A. <strong>Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.</strong> Am. J. Hum. Genet. 80: 152-161, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17160902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17160902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17160902[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510782" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17160902">Valdmanis et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17160902" 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 immunoprecipitation studies, <a href="#1" class="mim-tip-reference" title="Clemen, C. S., Tangavelou, K., Strucksberg, K.-H., Just, S., Gaertner, L., Regus-Leidig, H., Stumpf, M., Reimann, J., Coras, R., Morgan, R. O., Fernandez, M.-P., Hofmann, A., Muller, S., Schoser, B., Hanisch, F.-G., Rottbauer, W., Blumcke, I., von Horsten, S., Eichinger, L., Schroder, R. <strong>Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.</strong> Brain 133: 2920-2941, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20833645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20833645</a>] [<a href="https://doi.org/10.1093/brain/awq222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20833645">Clemen et al. (2010)</a> identified strumpellin as a binding partner with VCP (<a href="/entry/601023">601023</a>), mutation in which causes inclusion body myopathy with early-onset Paget disease, with or without frontotemporal dementia (IBMPFD1; <a href="/entry/167320">167320</a>). Strumpellin was detected in pathologic protein aggregates in muscle tissue derived from patients with IBMPFD1 as well as in various myofibrillar myopathies and in cortical neurons of a mouse model of Huntington disease (HD; <a href="/entry/143100">143100</a>). These findings suggested that strumpellin may have a role in various protein aggregate diseases. Both knockdown and overexpression of wildtype KIAA0196 caused a significant decrease in wound healing velocity in an in vitro-based assay. ShRNA knockdown of KIAA0196 in human neuroblastoma cells caused a reduction in axonal outgrowth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20833645" 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="Jia, D., Gomez, T. S., Metlagel, Z., Umetani, J., Otwinowski, Z., Rosen, M. K., Billadeau, D. D. <strong>WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes.</strong> Proc. Nat. Acad. Sci. 107: 10442-10447, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20498093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20498093</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20498093[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0913293107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20498093">Jia et al. (2010)</a> stated that WASH (WASHC1; <a href="/entry/613632">613632</a>) localizes to endosomal subdomains and regulates endocytic vesicle scission in an ARP2/3 (see <a href="/entry/604221">604221</a>)-dependent manner. Using affinity purification, immunoprecipitation, and knockdown experiments, <a href="#4" class="mim-tip-reference" title="Jia, D., Gomez, T. S., Metlagel, Z., Umetani, J., Otwinowski, Z., Rosen, M. K., Billadeau, D. D. <strong>WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes.</strong> Proc. Nat. Acad. Sci. 107: 10442-10447, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20498093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20498093</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20498093[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0913293107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20498093">Jia et al. (2010)</a> found that WASH, FAM21 (see <a href="/entry/613631">613631</a>), SWIP (WASHC4; <a href="/entry/615748">615748</a>), strumpellin, and CCDC53 (WASHC3; <a href="/entry/619925">619925</a>) formed a high-affinity WASH regulatory core complex (SHRC) in human, cow, and fly. Immunofluorescence analysis in transfected HeLa cells showed that SHRC subunits colocalized with each other and with a subset of EEA1 (<a href="/entry/605070">605070</a>)-positive endosomes, similar to endogenous WASH. Using recombinant proteins, the authors found that the SHRC inhibited intrinsic WASH activity toward the ARP2/3 complex. The N-terminal coiled-coil domain of WASH was required for association with all components of the SHRC. The conserved helical domain of CCDC53 was necessary and sufficient for association of CCDC53 with all other SHRC components and could stabilize WASH in HeLa cell lysates. The C terminus of SWIP mediated interaction with strumpellin. The N-terminal domain of FAM21 interacted with all components of the SHRC, whereas the C-terminal domain of FAM21 interacted directly with CAPZ (see <a href="/entry/601580">601580</a>) and inhibited its anti-capping activity. Moreover, the C-terminal domain of FAM21 interacted directly with phospholipids and phosphatidylserine, potentially linking the SHRC to endosomal domains enriched in phospholipids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20498093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The KIAA0196 gene contains 28 exons and spans 59.7 kb of genomic DNA (<a href="#8" class="mim-tip-reference" title="Valdmanis, P. N., Meijer, I. A., Reynolds, A., Lei, A, MacLeod, P., Schlesinger, D., Zatz, M., Reid, E., Dion, P. A., Drapeau, P., Rouleau, G. A. <strong>Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.</strong> Am. J. Hum. Genet. 80: 152-161, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17160902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17160902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17160902[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510782" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17160902">Valdmanis et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17160902" 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="Clemen, C. S., Tangavelou, K., Strucksberg, K.-H., Just, S., Gaertner, L., Regus-Leidig, H., Stumpf, M., Reimann, J., Coras, R., Morgan, R. O., Fernandez, M.-P., Hofmann, A., Muller, S., Schoser, B., Hanisch, F.-G., Rottbauer, W., Blumcke, I., von Horsten, S., Eichinger, L., Schroder, R. <strong>Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.</strong> Brain 133: 2920-2941, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20833645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20833645</a>] [<a href="https://doi.org/10.1093/brain/awq222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20833645">Clemen et al. (2010)</a> stated that the KIAA0196 gene contains 29 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20833645" 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 radiation hybrid analysis, <a href="#6" class="mim-tip-reference" title="Nagase, T., Seki, N., Ishikawa, K., Tanaka, A., Nomura, N. <strong>Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1.</strong> DNA Res. 3: 17-24, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8724849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8724849</a>] [<a href="https://doi.org/10.1093/dnares/3.1.17" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8724849">Nagase et al. (1996)</a> mapped the KIAA0196 gene to chromosome 8. By genomic sequence analysis, <a href="#7" class="mim-tip-reference" title="Porkka, K. P., Tammela, T. L. J., Vessella, R. L., Visakorpi, T. <strong>RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer.</strong> Genes Chromosomes Cancer 39: 1-10, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14603436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14603436</a>] [<a href="https://doi.org/10.1002/gcc.10289" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14603436">Porkka et al. (2004)</a> mapped the KIAA0196 gene to chromosome 8q24. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8724849+14603436" 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="#8" class="mim-tip-reference" title="Valdmanis, P. N., Meijer, I. A., Reynolds, A., Lei, A, MacLeod, P., Schlesinger, D., Zatz, M., Reid, E., Dion, P. A., Drapeau, P., Rouleau, G. A. <strong>Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.</strong> Am. J. Hum. Genet. 80: 152-161, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17160902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17160902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17160902[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510782" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17160902">Valdmanis et al. (2007)</a> identified 3 mutations in the KIAA0196 gene in 6 families that showed linkage to the hereditary spastic paraplegia locus SPG8 (<a href="/entry/603563">603563</a>), on 8q24.13. One mutation, V626F (<a href="#0001">610657.0001</a>), was shared by 4 different families of no known relatedness. An L619F mutation (<a href="#0002">610657.0002</a>) was found in a Brazilian family. The third mutation, N471D (<a href="#0003">610657.0003</a>), was identified in a smaller family of European origin and lies in a spectrin domain. Both the L619 and the V626 residues are strictly conserved across species and likely have a notable effect on the structure of the protein product strumpellin. Rescue studies with human mRNA injected in zebrafish treated with morpholino oligonucleotides to knock down the endogenous protein showed that mutations at these 2 residues impaired the normal function of the KIAA0196 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17160902" 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 10 affected members of a large Dutch family with SPG8, <a href="#2" class="mim-tip-reference" title="de Bot, S. T., Vermeer, S., Buijsman, W., Heister, A., Voorendt, M., Verrips, A., Scheffer, H., Kremer, H. P. H., van de Warrenburg, B. P. C., Kamsteeg, E.-J. <strong>Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.</strong> J. Neurol. 260: 1765-1769, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23455931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23455931</a>] [<a href="https://doi.org/10.1007/s00415-013-6870-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23455931">de Bot et al. (2013)</a> identified a heterozygous missense mutation in the KIAA0196 gene (G696A; <a href="#0005">610657.0005</a>). The mutation was found by targeted sequencing of the KIAA0196 gene in 21 index patients with autosomal dominant SPG; 2 index patients carried the mutation and were later found to be related. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23455931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Ritscher-Schinzel Syndrome 1</em></strong></p><p>
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In 11 patients with Ritscher-Schinzel syndrome-1 (RTSC1; <a href="/entry/220210">220210</a>) from an isolated community in northern Manitoba, Canada, <a href="#3" class="mim-tip-reference" title="Elliott, A. M., Simard, L. R., Coghlan, G., Chudley, A. E., Chodirker, B. N., Greenberg, C. R., Burch, T., Ly, V., Hatch, G. M., Zelinski, T. <strong>A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.</strong> J. Med. Genet. 50: 819-822, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24065355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24065355</a>] [<a href="https://doi.org/10.1136/jmedgenet-2013-101715" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24065355">Elliott et al. (2013)</a> identified a homozygous splice site mutation in the KIAA0196 gene (<a href="#0004">610657.0004</a>). The mutation was found by homozygosity mapping followed by candidate gene sequencing, and segregated with the disorder in the families. Four of the patients had previously been reported by <a href="#5" class="mim-tip-reference" title="Marles, S. L., Chodirker, B. N., Greenberg, C. R., Chudley, A. E. <strong>Evidence for Ritscher-Schinzel syndrome in Canadian native Indians.</strong> Am. J. Med. Genet. 56: 343-350, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7604842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7604842</a>] [<a href="https://doi.org/10.1002/ajmg.1320560402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7604842">Marles et al. (1995)</a>. Analysis of patient cells showed an 8-fold decrease in KIAA0196 mRNA compared to controls, suggesting that the mutant transcript may be subject to nonsense-mediated mRNA decay. Western blot analysis showed that the protein was reduced by 60% compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7604842+24065355" 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="Clemen, C. S., Tangavelou, K., Strucksberg, K.-H., Just, S., Gaertner, L., Regus-Leidig, H., Stumpf, M., Reimann, J., Coras, R., Morgan, R. O., Fernandez, M.-P., Hofmann, A., Muller, S., Schoser, B., Hanisch, F.-G., Rottbauer, W., Blumcke, I., von Horsten, S., Eichinger, L., Schroder, R. <strong>Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.</strong> Brain 133: 2920-2941, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20833645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20833645</a>] [<a href="https://doi.org/10.1093/brain/awq222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20833645">Clemen et al. (2010)</a> demonstrated that knockdown of Kiaa0196 in zebrafish caused severe cardiac contractile dysfunction, tail curvature, and impaired motility. Impaired motility was due to a loss of central and peripheral motoneuron formation, suggesting a loss-of-function pathogenesis in SPG8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20833645" 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=610657[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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<p>In 4 apparently unrelated families of European ancestry, <a href="#8" class="mim-tip-reference" title="Valdmanis, P. N., Meijer, I. A., Reynolds, A., Lei, A, MacLeod, P., Schlesinger, D., Zatz, M., Reid, E., Dion, P. A., Drapeau, P., Rouleau, G. A. <strong>Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.</strong> Am. J. Hum. Genet. 80: 152-161, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17160902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17160902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17160902[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510782" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17160902">Valdmanis et al. (2007)</a> found that a val626-to-phe (V626F) mutation in the KIAA0196 gene, arising from a heterozygous 1956G-T transversion in exon 15, segregated with spastic paraplegia (SPG8; <a href="/entry/603563">603563</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17160902" 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">rs80338866 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338866;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=rs80338866" 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=rs80338866" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Brazilian family, <a href="#8" class="mim-tip-reference" title="Valdmanis, P. N., Meijer, I. A., Reynolds, A., Lei, A, MacLeod, P., Schlesinger, D., Zatz, M., Reid, E., Dion, P. A., Drapeau, P., Rouleau, G. A. <strong>Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.</strong> Am. J. Hum. Genet. 80: 152-161, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17160902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17160902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17160902[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510782" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17160902">Valdmanis et al. (2007)</a> found that a leu619-to-phe (L619F) mutation, arising from a heterozygous 1937G-C transversion in exon 14 of the KIAA0196 gene, segregated with hereditary spastic paraplegia (SPG8; <a href="/entry/603563">603563</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17160902" 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 small family of European origin, <a href="#8" class="mim-tip-reference" title="Valdmanis, P. N., Meijer, I. A., Reynolds, A., Lei, A, MacLeod, P., Schlesinger, D., Zatz, M., Reid, E., Dion, P. A., Drapeau, P., Rouleau, G. A. <strong>Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.</strong> Am. J. Hum. Genet. 80: 152-161, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17160902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17160902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17160902[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510782" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17160902">Valdmanis et al. (2007)</a> found that hereditary spastic paraplegia (SPG8; <a href="/entry/603563">603563</a>) segregated with an N471D mutation in the KIAA0196 gene. The amino acid substitution arose from a heterozygous 1491A-G transition in exon 11. In cellular studies, <a href="#1" class="mim-tip-reference" title="Clemen, C. S., Tangavelou, K., Strucksberg, K.-H., Just, S., Gaertner, L., Regus-Leidig, H., Stumpf, M., Reimann, J., Coras, R., Morgan, R. O., Fernandez, M.-P., Hofmann, A., Muller, S., Schoser, B., Hanisch, F.-G., Rottbauer, W., Blumcke, I., von Horsten, S., Eichinger, L., Schroder, R. <strong>Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.</strong> Brain 133: 2920-2941, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20833645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20833645</a>] [<a href="https://doi.org/10.1093/brain/awq222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20833645">Clemen et al. (2010)</a> found that the mutant N471D protein had normal subcellular localization and colocalization with VCP (<a href="/entry/601023">601023</a>). Expression of the N471D protein showed no effect on the velocity of wound healing compared to wildtype in an vitro-based assay. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17160902+20833645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 RITSCHER-SCHINZEL SYNDROME 1</strong>
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WASHC5, IVS27DS, T-A, +2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398123007 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398123007;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=rs398123007" 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=rs398123007" 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=RCV000077794 OR RCV004751254" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000077794, RCV004751254" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000077794...</a>
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<p>In 11 First Nation patients from an isolated community in northern Manitoba, Canada, with Ritscher-Schinzel syndrome-1 (RTSC1; <a href="/entry/220210">220210</a>), <a href="#3" class="mim-tip-reference" title="Elliott, A. M., Simard, L. R., Coghlan, G., Chudley, A. E., Chodirker, B. N., Greenberg, C. R., Burch, T., Ly, V., Hatch, G. M., Zelinski, T. <strong>A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.</strong> J. Med. Genet. 50: 819-822, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24065355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24065355</a>] [<a href="https://doi.org/10.1136/jmedgenet-2013-101715" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24065355">Elliott et al. (2013)</a> identified homozygosity for 3 variants in intron 27 of the KIAA0196 gene: c.3335+2T-A, c.3335+4C-A, and c.3335+8A-G. The mutations were found by homozygosity mapping followed by candidate gene sequencing, and segregated with the disorder in the families. None of these variants was present in the dbSNP database or in 5 control individuals. Unaffected parents were heterozygous for the variants. Only the c.3335+2T-A variant was predicted to have a functional effect on splicing, causing the skipping of exon 27, a frameshift, and premature termination with the loss of 29 highly conserved amino acids. Analysis of patient cells showed an 8-fold decrease in KIAA0196 mRNA compared to controls, suggesting that the mutant transcript may be subject to nonsense-mediated mRNA decay. Western blot analysis showed that the protein was reduced by 60% compared to controls. The c.3335+8A-G variant created a restriction site that allowed for analysis of newborn blood spots from the same population. Fifteen of 133 samples were heterozygous for the mutation, indicating that 1 in 9 individuals from this region is a carrier of the disorder. This result predicted that 1 in 325 children in the next generation will have RTSC. Four of the patients had previously been reported by <a href="#5" class="mim-tip-reference" title="Marles, S. L., Chodirker, B. N., Greenberg, C. R., Chudley, A. E. <strong>Evidence for Ritscher-Schinzel syndrome in Canadian native Indians.</strong> Am. J. Med. Genet. 56: 343-350, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7604842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7604842</a>] [<a href="https://doi.org/10.1002/ajmg.1320560402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7604842">Marles et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7604842+24065355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT</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">rs397515564 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515564;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=rs397515564" 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=rs397515564" 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=RCV000055943" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000055943" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000055943</a>
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<p>In 10 affected members of a large Dutch family with spastic paraplegia (SPG8; <a href="/entry/603563">603563</a>), <a href="#2" class="mim-tip-reference" title="de Bot, S. T., Vermeer, S., Buijsman, W., Heister, A., Voorendt, M., Verrips, A., Scheffer, H., Kremer, H. P. H., van de Warrenburg, B. P. C., Kamsteeg, E.-J. <strong>Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.</strong> J. Neurol. 260: 1765-1769, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23455931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23455931</a>] [<a href="https://doi.org/10.1007/s00415-013-6870-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23455931">de Bot et al. (2013)</a> identified a heterozygous c.2087G-C transversion in exon 17 of the KIAA0196 gene, resulting in a gly696-to-ala (G696A) substitution at a highly conserved residue. The mutation was found by targeted sequencing of the KIAA0196 gene in 21 index patients with autosomal dominant SPG. It was not found in approximately 13,000 control chromosomes in the Exome Variant Server database. Functional studies were not performed. The patients had onset of a pure form of spastic paraplegia between ages 21 and 57 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23455931" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Clemen2010" class="mim-anchor"></a>
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Clemen, C. S., Tangavelou, K., Strucksberg, K.-H., Just, S., Gaertner, L., Regus-Leidig, H., Stumpf, M., Reimann, J., Coras, R., Morgan, R. O., Fernandez, M.-P., Hofmann, A., Muller, S., Schoser, B., Hanisch, F.-G., Rottbauer, W., Blumcke, I., von Horsten, S., Eichinger, L., Schroder, R.
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<strong>Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.</strong>
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Brain 133: 2920-2941, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20833645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20833645</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20833645" 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/10.1093/brain/awq222" target="_blank">Full Text</a>]
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de Bot, S. T., Vermeer, S., Buijsman, W., Heister, A., Voorendt, M., Verrips, A., Scheffer, H., Kremer, H. P. H., van de Warrenburg, B. P. C., Kamsteeg, E.-J.
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<strong>Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.</strong>
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J. Neurol. 260: 1765-1769, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23455931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23455931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23455931" 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/s00415-013-6870-x" target="_blank">Full Text</a>]
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Elliott, A. M., Simard, L. R., Coghlan, G., Chudley, A. E., Chodirker, B. N., Greenberg, C. R., Burch, T., Ly, V., Hatch, G. M., Zelinski, T.
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<strong>A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.</strong>
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J. Med. Genet. 50: 819-822, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24065355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24065355</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24065355" 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-2013-101715" target="_blank">Full Text</a>]
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Jia, D., Gomez, T. S., Metlagel, Z., Umetani, J., Otwinowski, Z., Rosen, M. K., Billadeau, D. D.
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<strong>WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes.</strong>
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Proc. Nat. Acad. Sci. 107: 10442-10447, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20498093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20498093</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20498093[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=20498093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0913293107" target="_blank">Full Text</a>]
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Marles, S. L., Chodirker, B. N., Greenberg, C. R., Chudley, A. E.
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<strong>Evidence for Ritscher-Schinzel syndrome in Canadian native Indians.</strong>
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Am. J. Med. Genet. 56: 343-350, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7604842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7604842</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7604842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320560402" target="_blank">Full Text</a>]
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<a id="Nagase1996" class="mim-anchor"></a>
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Nagase, T., Seki, N., Ishikawa, K., Tanaka, A., Nomura, N.
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<strong>Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1.</strong>
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DNA Res. 3: 17-24, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8724849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8724849</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8724849" 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/10.1093/dnares/3.1.17" target="_blank">Full Text</a>]
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Porkka, K. P., Tammela, T. L. J., Vessella, R. L., Visakorpi, T.
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<strong>RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer.</strong>
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Genes Chromosomes Cancer 39: 1-10, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14603436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14603436</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14603436" 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/gcc.10289" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Valdmanis2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Valdmanis, P. N., Meijer, I. A., Reynolds, A., Lei, A, MacLeod, P., Schlesinger, D., Zatz, M., Reid, E., Dion, P. A., Drapeau, P., Rouleau, G. A.
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<strong>Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.</strong>
|
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Am. J. Hum. Genet. 80: 152-161, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17160902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17160902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17160902[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=17160902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/510782" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<br />
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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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Matthew B. Gross - updated : 06/21/2022
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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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Cassandra L. Kniffin - updated : 11/19/2015<br>Cassandra L. Kniffin - updated : 1/6/2014<br>Victor A. McKusick - updated : 1/3/2007
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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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Patricia A. Hartz : 12/18/2006
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</span>
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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 : 06/22/2022
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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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mgross : 06/21/2022<br>carol : 11/07/2019<br>carol : 11/06/2019<br>carol : 04/07/2017<br>carol : 11/24/2015<br>ckniffin : 11/19/2015<br>alopez : 12/5/2014<br>carol : 1/7/2014<br>ckniffin : 1/6/2014<br>alopez : 1/5/2007<br>alopez : 1/5/2007<br>terry : 1/3/2007<br>mgross : 12/18/2006
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</span>
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<div class="container visible-print-block">
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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> 610657
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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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WASH COMPLEX, SUBUNIT 5; WASHC5
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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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<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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KIAA0196<br />
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STRUMPELLIN
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</span>
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</h4>
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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>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: WASHC5</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>SNOMEDCT:</strong> 785305006;
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</span>
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</p>
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<div>
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<br />
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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: 8q24.13
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Genomic coordinates <span class="small">(GRCh38)</span> : 8:125,024,260-125,091,792 </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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8q24.13
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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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Ritscher-Schinzel syndrome 1
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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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220210
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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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Spastic paraplegia 8, autosomal dominant
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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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603563
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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 dominant
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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>Description</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The WASHC5 gene encodes strumpellin, a 134-kD protein that is ubiquitously expressed in cytosolic and endoplasmic reticulum cell fractions (summary by Clemen et al., 2010). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By sequencing clones obtained from an immature myeloid leukemia cell line cDNA library, Nagase et al. (1996) cloned KIAA0196. The deduced 1,159-amino acid protein contains putative transmembrane domains. Northern blot analysis detected KIAA0196 expression in all tissues and cell lines examined, with highest expression in skeletal muscle. </p><p>Clemen et al. (2010) found ubiquitous expression of the KIAA0196 gene in all human tissues analyzed. The protein was primarily present in cytosolic and endoplasmic reticulum membrane fractions. In the human hippocampus and ventral spinal cord, it colocalized with the presynaptic protein synaptophysin (SYP; 313475). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Porkka et al. (2004) used microarray analysis, quantitative RT-PCR, and FISH to identify genes that were amplified and overexpressed in prostate cancer (176807). They found that KIAA0196, RAD21 (606462), and CHRAC1 (607268) were amplified in several prostate cancer cell lines and hormone-refractory prostate tumors. However, only amplification of KIAA0196 was associated with overexpression in tumor samples. </p><p>The product of the KIAA0196 gene is the protein strumpellin (Valdmanis et al., 2007). </p><p>In immunoprecipitation studies, Clemen et al. (2010) identified strumpellin as a binding partner with VCP (601023), mutation in which causes inclusion body myopathy with early-onset Paget disease, with or without frontotemporal dementia (IBMPFD1; 167320). Strumpellin was detected in pathologic protein aggregates in muscle tissue derived from patients with IBMPFD1 as well as in various myofibrillar myopathies and in cortical neurons of a mouse model of Huntington disease (HD; 143100). These findings suggested that strumpellin may have a role in various protein aggregate diseases. Both knockdown and overexpression of wildtype KIAA0196 caused a significant decrease in wound healing velocity in an in vitro-based assay. ShRNA knockdown of KIAA0196 in human neuroblastoma cells caused a reduction in axonal outgrowth. </p><p>Jia et al. (2010) stated that WASH (WASHC1; 613632) localizes to endosomal subdomains and regulates endocytic vesicle scission in an ARP2/3 (see 604221)-dependent manner. Using affinity purification, immunoprecipitation, and knockdown experiments, Jia et al. (2010) found that WASH, FAM21 (see 613631), SWIP (WASHC4; 615748), strumpellin, and CCDC53 (WASHC3; 619925) formed a high-affinity WASH regulatory core complex (SHRC) in human, cow, and fly. Immunofluorescence analysis in transfected HeLa cells showed that SHRC subunits colocalized with each other and with a subset of EEA1 (605070)-positive endosomes, similar to endogenous WASH. Using recombinant proteins, the authors found that the SHRC inhibited intrinsic WASH activity toward the ARP2/3 complex. The N-terminal coiled-coil domain of WASH was required for association with all components of the SHRC. The conserved helical domain of CCDC53 was necessary and sufficient for association of CCDC53 with all other SHRC components and could stabilize WASH in HeLa cell lysates. The C terminus of SWIP mediated interaction with strumpellin. The N-terminal domain of FAM21 interacted with all components of the SHRC, whereas the C-terminal domain of FAM21 interacted directly with CAPZ (see 601580) and inhibited its anti-capping activity. Moreover, the C-terminal domain of FAM21 interacted directly with phospholipids and phosphatidylserine, potentially linking the SHRC to endosomal domains enriched in phospholipids. </p>
|
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</span>
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<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>The KIAA0196 gene contains 28 exons and spans 59.7 kb of genomic DNA (Valdmanis et al., 2007). </p><p>Clemen et al. (2010) stated that the KIAA0196 gene contains 29 exons. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p>Using radiation hybrid analysis, Nagase et al. (1996) mapped the KIAA0196 gene to chromosome 8. By genomic sequence analysis, Porkka et al. (2004) mapped the KIAA0196 gene to chromosome 8q24. </p>
|
|
</span>
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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|
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<span class="mim-text-font">
|
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<p><strong><em>Autosomal Dominant Spastic Paraplegia 8</em></strong></p><p>
|
|
Valdmanis et al. (2007) identified 3 mutations in the KIAA0196 gene in 6 families that showed linkage to the hereditary spastic paraplegia locus SPG8 (603563), on 8q24.13. One mutation, V626F (610657.0001), was shared by 4 different families of no known relatedness. An L619F mutation (610657.0002) was found in a Brazilian family. The third mutation, N471D (610657.0003), was identified in a smaller family of European origin and lies in a spectrin domain. Both the L619 and the V626 residues are strictly conserved across species and likely have a notable effect on the structure of the protein product strumpellin. Rescue studies with human mRNA injected in zebrafish treated with morpholino oligonucleotides to knock down the endogenous protein showed that mutations at these 2 residues impaired the normal function of the KIAA0196 gene. </p><p>In 10 affected members of a large Dutch family with SPG8, de Bot et al. (2013) identified a heterozygous missense mutation in the KIAA0196 gene (G696A; 610657.0005). The mutation was found by targeted sequencing of the KIAA0196 gene in 21 index patients with autosomal dominant SPG; 2 index patients carried the mutation and were later found to be related. </p><p><strong><em>Ritscher-Schinzel Syndrome 1</em></strong></p><p>
|
|
In 11 patients with Ritscher-Schinzel syndrome-1 (RTSC1; 220210) from an isolated community in northern Manitoba, Canada, Elliott et al. (2013) identified a homozygous splice site mutation in the KIAA0196 gene (610657.0004). The mutation was found by homozygosity mapping followed by candidate gene sequencing, and segregated with the disorder in the families. Four of the patients had previously been reported by Marles et al. (1995). Analysis of patient cells showed an 8-fold decrease in KIAA0196 mRNA compared to controls, suggesting that the mutant transcript may be subject to nonsense-mediated mRNA decay. Western blot analysis showed that the protein was reduced by 60% compared to controls. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Clemen et al. (2010) demonstrated that knockdown of Kiaa0196 in zebrafish caused severe cardiac contractile dysfunction, tail curvature, and impaired motility. Impaired motility was due to a loss of central and peripheral motoneuron formation, suggesting a loss-of-function pathogenesis in SPG8. </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">
|
|
<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
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<strong>5 Selected Examples):</strong>
|
|
</span>
|
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</h4>
|
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT</strong>
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</h4>
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<div>
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<span class="mim-text-font">
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WASHC5, VAL626PHE
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<br />
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SNP: rs80338867,
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ClinVar: RCV000001220, RCV001847561, RCV002227984, RCV003242958, RCV003320543
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</span>
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</div>
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<span class="mim-text-font">
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<p>In 4 apparently unrelated families of European ancestry, Valdmanis et al. (2007) found that a val626-to-phe (V626F) mutation in the KIAA0196 gene, arising from a heterozygous 1956G-T transversion in exon 15, segregated with spastic paraplegia (SPG8; 603563). </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>.0002 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT</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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WASHC5, LEU619PHE
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<br />
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SNP: rs80338866,
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ClinVar: RCV000001221, RCV001851527
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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 Brazilian family, Valdmanis et al. (2007) found that a leu619-to-phe (L619F) mutation, arising from a heterozygous 1937G-C transversion in exon 14 of the KIAA0196 gene, segregated with hereditary spastic paraplegia (SPG8; 603563). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT</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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WASHC5, ASN471ASP
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<br />
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SNP: rs80338865,
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ClinVar: RCV000001222
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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 small family of European origin, Valdmanis et al. (2007) found that hereditary spastic paraplegia (SPG8; 603563) segregated with an N471D mutation in the KIAA0196 gene. The amino acid substitution arose from a heterozygous 1491A-G transition in exon 11. In cellular studies, Clemen et al. (2010) found that the mutant N471D protein had normal subcellular localization and colocalization with VCP (601023). Expression of the N471D protein showed no effect on the velocity of wound healing compared to wildtype in an vitro-based assay. </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>.0004 RITSCHER-SCHINZEL SYNDROME 1</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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WASHC5, IVS27DS, T-A, +2
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<br />
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SNP: rs398123007,
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ClinVar: RCV000077794, RCV004751254
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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 11 First Nation patients from an isolated community in northern Manitoba, Canada, with Ritscher-Schinzel syndrome-1 (RTSC1; 220210), Elliott et al. (2013) identified homozygosity for 3 variants in intron 27 of the KIAA0196 gene: c.3335+2T-A, c.3335+4C-A, and c.3335+8A-G. The mutations were found by homozygosity mapping followed by candidate gene sequencing, and segregated with the disorder in the families. None of these variants was present in the dbSNP database or in 5 control individuals. Unaffected parents were heterozygous for the variants. Only the c.3335+2T-A variant was predicted to have a functional effect on splicing, causing the skipping of exon 27, a frameshift, and premature termination with the loss of 29 highly conserved amino acids. Analysis of patient cells showed an 8-fold decrease in KIAA0196 mRNA compared to controls, suggesting that the mutant transcript may be subject to nonsense-mediated mRNA decay. Western blot analysis showed that the protein was reduced by 60% compared to controls. The c.3335+8A-G variant created a restriction site that allowed for analysis of newborn blood spots from the same population. Fifteen of 133 samples were heterozygous for the mutation, indicating that 1 in 9 individuals from this region is a carrier of the disorder. This result predicted that 1 in 325 children in the next generation will have RTSC. Four of the patients had previously been reported by Marles et al. (1995). </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>.0005 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT</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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WASHC5, GLY696ALA
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<br />
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SNP: rs397515564,
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ClinVar: RCV000055943
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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 10 affected members of a large Dutch family with spastic paraplegia (SPG8; 603563), de Bot et al. (2013) identified a heterozygous c.2087G-C transversion in exon 17 of the KIAA0196 gene, resulting in a gly696-to-ala (G696A) substitution at a highly conserved residue. The mutation was found by targeted sequencing of the KIAA0196 gene in 21 index patients with autosomal dominant SPG. It was not found in approximately 13,000 control chromosomes in the Exome Variant Server database. Functional studies were not performed. The patients had onset of a pure form of spastic paraplegia between ages 21 and 57 years. </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>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</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">
|
|
Clemen, C. S., Tangavelou, K., Strucksberg, K.-H., Just, S., Gaertner, L., Regus-Leidig, H., Stumpf, M., Reimann, J., Coras, R., Morgan, R. O., Fernandez, M.-P., Hofmann, A., Muller, S., Schoser, B., Hanisch, F.-G., Rottbauer, W., Blumcke, I., von Horsten, S., Eichinger, L., Schroder, R.
|
|
<strong>Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.</strong>
|
|
Brain 133: 2920-2941, 2010.
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[PubMed: 20833645]
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[Full Text: https://doi.org/10.1093/brain/awq222]
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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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de Bot, S. T., Vermeer, S., Buijsman, W., Heister, A., Voorendt, M., Verrips, A., Scheffer, H., Kremer, H. P. H., van de Warrenburg, B. P. C., Kamsteeg, E.-J.
|
|
<strong>Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.</strong>
|
|
J. Neurol. 260: 1765-1769, 2013.
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[PubMed: 23455931]
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[Full Text: https://doi.org/10.1007/s00415-013-6870-x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Elliott, A. M., Simard, L. R., Coghlan, G., Chudley, A. E., Chodirker, B. N., Greenberg, C. R., Burch, T., Ly, V., Hatch, G. M., Zelinski, T.
|
|
<strong>A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.</strong>
|
|
J. Med. Genet. 50: 819-822, 2013.
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[PubMed: 24065355]
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[Full Text: https://doi.org/10.1136/jmedgenet-2013-101715]
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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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Jia, D., Gomez, T. S., Metlagel, Z., Umetani, J., Otwinowski, Z., Rosen, M. K., Billadeau, D. D.
|
|
<strong>WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes.</strong>
|
|
Proc. Nat. Acad. Sci. 107: 10442-10447, 2010.
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[PubMed: 20498093]
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[Full Text: https://doi.org/10.1073/pnas.0913293107]
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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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Marles, S. L., Chodirker, B. N., Greenberg, C. R., Chudley, A. E.
|
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<strong>Evidence for Ritscher-Schinzel syndrome in Canadian native Indians.</strong>
|
|
Am. J. Med. Genet. 56: 343-350, 1995.
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[PubMed: 7604842]
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[Full Text: https://doi.org/10.1002/ajmg.1320560402]
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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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Nagase, T., Seki, N., Ishikawa, K., Tanaka, A., Nomura, N.
|
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<strong>Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1.</strong>
|
|
DNA Res. 3: 17-24, 1996.
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[PubMed: 8724849]
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[Full Text: https://doi.org/10.1093/dnares/3.1.17]
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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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Porkka, K. P., Tammela, T. L. J., Vessella, R. L., Visakorpi, T.
|
|
<strong>RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer.</strong>
|
|
Genes Chromosomes Cancer 39: 1-10, 2004.
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[PubMed: 14603436]
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[Full Text: https://doi.org/10.1002/gcc.10289]
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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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Valdmanis, P. N., Meijer, I. A., Reynolds, A., Lei, A, MacLeod, P., Schlesinger, D., Zatz, M., Reid, E., Dion, P. A., Drapeau, P., Rouleau, G. A.
|
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<strong>Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.</strong>
|
|
Am. J. Hum. Genet. 80: 152-161, 2007.
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[PubMed: 17160902]
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[Full Text: https://doi.org/10.1086/510782]
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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 />
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 06/21/2022<br>Cassandra L. Kniffin - updated : 11/19/2015<br>Cassandra L. Kniffin - updated : 1/6/2014<br>Victor A. McKusick - updated : 1/3/2007
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Patricia A. Hartz : 12/18/2006
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carol : 06/22/2022<br>mgross : 06/21/2022<br>carol : 11/07/2019<br>carol : 11/06/2019<br>carol : 04/07/2017<br>carol : 11/24/2015<br>ckniffin : 11/19/2015<br>alopez : 12/5/2014<br>carol : 1/7/2014<br>ckniffin : 1/6/2014<br>alopez : 1/5/2007<br>alopez : 1/5/2007<br>terry : 1/3/2007<br>mgross : 12/18/2006
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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