3002 lines
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- *601501 - VPS35 RETROMER COMPLEX COMPONENT; VPS35
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- OMIM
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<p>
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<span class="h4">*601501</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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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="#biochemicalFeatures">Biochemical Features</a>
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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="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601501">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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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 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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<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 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=ENSG00000069329;t=ENST00000299138" 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=55737" 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=601501" 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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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000069329;t=ENST00000299138" 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_018206,XM_005256045,XM_011523227" 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_018206" 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=601501" 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=06085&isoform_id=06085_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/VPS35" 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/7020456,7022978,7656643,9622850,9956007,9963775,10435637,11875333,12053275,12225000,12803213,14714472,17999541,25453321,59016791,62531049,62897997,119603089,119603090,530424105,767990260,2462549830,2462549832" 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/Q96QK1" 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=55737" 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=ENSG00000069329;t=ENST00000299138" 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=VPS35" 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=VPS35" 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+55737" 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/VPS35" 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:55737" 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/55737" 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=chr16&hgg_gene=ENST00000299138.12&hgg_start=46656132&hgg_end=46689178&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:13487" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601501[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 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=601501[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/ENSG00000069329" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=VPS35" 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=VPS35" 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=VPS35&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/PA37783" 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:13487" 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/FBgn0034708.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:1890467" 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/VPS35#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:1890467" 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/55737/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=55737" 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=WBGene00006933;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-030131-2042" 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:55737" 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=VPS35&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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601501
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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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VPS35 RETROMER COMPLEX COMPONENT; VPS35
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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VACUOLAR PROTEIN SORTING 35, YEAST, HOMOLOG OF<br />
|
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MEM3, MOUSE, HOMOLOG OF; MEM3
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=VPS35" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">VPS35</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/16/404?start=-3&limit=10&highlight=404">16q11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:46656132-46689178&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'})">16:46,656,132-46,689,178</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/16/404?start=-3&limit=10&highlight=404">
|
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16q11.2
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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{Parkinson disease 17}
|
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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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|
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<a href="/entry/614203"> 614203 </a>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/601501" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601501" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
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</div>
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<p>The VPS35 gene encodes a component of the retromer cargo-recognition complex critical for endosome-trans-Golgi trafficking and the recycling of membrane-associated proteins (summary by <a href="#12" class="mim-tip-reference" title="Vilarino-Guell, C., Wider, C., Ross, O. A., Dachsel, J. C., Kachergus, J. M., Lincoln, S. J., Soto-Ortolaza, A. I., Cobb, S. A., Wilhoite, G. J., Bacon, J. A., Behrouz, B., Melrose, H. L., and 21 others. <strong>VPS35 mutations in Parkinson disease.</strong> Am. J. Hum. Genet. 89: 162-167, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 347 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21763482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21763482</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21763482[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/10.1016/j.ajhg.2011.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21763482">Vilarino-Guell et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21763482" 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>To study the molecular function of genes expressed during preimplantation development, <a href="#6" class="mim-tip-reference" title="Hwang, S.-Y., Benjamin, L. E., Oh, B., Rothstein, J. L., Ackerman, S. L., Beddington, R. S. P., Solter, D., Knowles, B. B. <strong>Genetic mapping and embryonic expression of a novel, maternally transcribed gene Mem3.</strong> Mammalian Genome 7: 586-590, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8678978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8678978</a>] [<a href="https://doi.org/10.1007/s003359900174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8678978">Hwang et al. (1996)</a> isolated a novel maternal transcript, stage specific embryonic cDNA-26 (SSEC-26), from a partial subtraction library of mouse unfertilized eggs and preimplantation embryos. The SSEC-26 transcript was abundant in the unfertilized egg and also actively transcribed from the newly formed zygotic genome. On the basis of its expression in eggs and embryos, this mouse gene was named Mem3 (maternal-embryonic-3). The deduced amino acid sequence of Mem3 resembles that of the yeast VPS35 protein in 2 separate domains. <a href="#6" class="mim-tip-reference" title="Hwang, S.-Y., Benjamin, L. E., Oh, B., Rothstein, J. L., Ackerman, S. L., Beddington, R. S. P., Solter, D., Knowles, B. B. <strong>Genetic mapping and embryonic expression of a novel, maternally transcribed gene Mem3.</strong> Mammalian Genome 7: 586-590, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8678978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8678978</a>] [<a href="https://doi.org/10.1007/s003359900174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8678978">Hwang et al. (1996)</a> assembled a cDNA sequence of the putative human homolog of Mem3 (VPS35) with partial clones from an EST database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8678978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By EST database searching for sequences homologous to yeast VPS35, <a href="#14" class="mim-tip-reference" title="Zhang, P., Yu, L., Gao, J., Fu, Q., Dai, F., Zhao, Y., Zheng, L., Zhao, S. <strong>Cloning and characterization of human VPS35 and mouse Vps35 and mapping of VPS35 to human chromosome 16q13-q21.</strong> Genomics 70: 253-257, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11112353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11112353</a>] [<a href="https://doi.org/10.1006/geno.2000.6380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11112353">Zhang et al. (2000)</a> identified human VPS35. They cloned a full-length cDNA from a human testis cDNA library. The deduced 796-amino acid protein contains 2 polyadenylation signals. Both human and yeast VPS35, which share 30% identity, lack a hydrophobic region. Northern blot analysis revealed bands at 5.5, 3.6, and 3.0 kb. The major 3.6-kb transcript was expressed at highest levels in brain, heart, testis, ovary, small intestine, spleen, skeletal muscle, and placenta, at moderate levels in pancreas, thymus, prostate, and colon, and at low levels in lung, liver, kidney, and peripheral blood leukocytes. Weaker expression of the 3.0-kb transcript followed the same distribution except in brain, where it was not detected. The 5.5-kb transcript showed low expression in all tissues tested. <a href="#14" class="mim-tip-reference" title="Zhang, P., Yu, L., Gao, J., Fu, Q., Dai, F., Zhao, Y., Zheng, L., Zhao, S. <strong>Cloning and characterization of human VPS35 and mouse Vps35 and mapping of VPS35 to human chromosome 16q13-q21.</strong> Genomics 70: 253-257, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11112353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11112353</a>] [<a href="https://doi.org/10.1006/geno.2000.6380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11112353">Zhang et al. (2000)</a> also cloned mouse Vps35, which encodes a 796-amino acid protein containing a single polyadenylation signal. This sequence shares 99% identity with human VPS35 and 49% similarity with yeast VPS35. Northern blot analysis detected a single 3.4-kb transcript expressed at varying levels in all tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11112353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Edgar, A. J., Polak, J. M. <strong>Human homologues of yeast vacuolar protein sorting 29 and 35.</strong> Biochem. Biophys. Res. Commun. 277: 622-630, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062004</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062004">Edgar and Polak (2000)</a> independently cloned VPS35 from a human lung cDNA library. Their sequence analysis revealed the presence of a third polyadenylation signal. They found ubiquitous expression of transcripts of 2.8, 3.3, and 6.8 kb corresponding to the use of all 3 polyadenylation signals. Expression was highest in heart, skeletal muscle, kidney, and brain, and lowest in peripheral blood leukocytes. In brain, only the 3.3-kb transcript was observed. By sequence analysis, <a href="#2" class="mim-tip-reference" title="Edgar, A. J., Polak, J. M. <strong>Human homologues of yeast vacuolar protein sorting 29 and 35.</strong> Biochem. Biophys. Res. Commun. 277: 622-630, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062004</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062004">Edgar and Polak (2000)</a> determined that the protein is predominantly alpha-helical. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11062004" 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="#5" class="mim-tip-reference" title="Hierro, A., Rojas, A. L., Rojas, R., Murthy, N., Effantin, G., Kajava, A. V., Steven, A. C., Bonifacino, J. S., Hurley, J. H. <strong>Functional architecture of the retromer cargo-recognition complex.</strong> Nature 449: 1063-1067, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17891154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17891154</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17891154[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/10.1038/nature06216" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17891154">Hierro et al. (2007)</a> reported the crystal structure of a VPS29-VPS35 subcomplex showing how the metallophosphoesterase-fold subunit VPS29 acts as a scaffold for the C-terminal half of VPS35. VPS35 forms a horseshoe-shaped, right-handed, alpha-helical solenoid, the concave face of which completely covers the metal-binding site of VPS29, whereas the convex face exposes a series of hydrophobic interhelical grooves. Electron microscopy showed that the intact VPS26-VPS29-VPS35 complex is a stick-shaped, flexible structure, approximately 21 nanometers long. A hybrid structural model derived from crystal structures, electron microscopy, interaction studies, and bioinformatics showed that the alpha-solenoid fold extends the full length of VPS35, and that VPS26 is bound at the opposite end from VPS29. This extended structure presents multiple binding sites for the SNX complex and receptor cargo, and appears capable of flexing to conform to curved vesicular membranes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17891154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Edgar, A. J., Polak, J. M. <strong>Human homologues of yeast vacuolar protein sorting 29 and 35.</strong> Biochem. Biophys. Res. Commun. 277: 622-630, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062004</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062004">Edgar and Polak (2000)</a> determined that VPS35 is present in the genome in single copy, has 17 exons, and spans 29.6 kb. Analysis of the 5-prime region revealed no evidence of a CpG island. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11062004" 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 radiation hybrid analysis, <a href="#14" class="mim-tip-reference" title="Zhang, P., Yu, L., Gao, J., Fu, Q., Dai, F., Zhao, Y., Zheng, L., Zhao, S. <strong>Cloning and characterization of human VPS35 and mouse Vps35 and mapping of VPS35 to human chromosome 16q13-q21.</strong> Genomics 70: 253-257, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11112353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11112353</a>] [<a href="https://doi.org/10.1006/geno.2000.6380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11112353">Zhang et al. (2000)</a> mapped the VPS35 gene to chromosome 16q13-q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11112353" 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="#3" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 9/14/2017."None>Gross (2017)</a> mapped the VPS35 gene to chromosome 16q11.2 based on an alignment of the VPS35 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF175265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF175265</a>) with the genomic sequence (GRCh38).</p><p>By PCR-based analysis of an interspecific mapping panel, <a href="#6" class="mim-tip-reference" title="Hwang, S.-Y., Benjamin, L. E., Oh, B., Rothstein, J. L., Ackerman, S. L., Beddington, R. S. P., Solter, D., Knowles, B. B. <strong>Genetic mapping and embryonic expression of a novel, maternally transcribed gene Mem3.</strong> Mammalian Genome 7: 586-590, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8678978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8678978</a>] [<a href="https://doi.org/10.1007/s003359900174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8678978">Hwang et al. (1996)</a> mapped the mouse Mem3 gene to chromosome 8 near the glutaryl CoA dehydrogenase locus (<a href="/entry/608801">608801</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8678978" 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="#14" class="mim-tip-reference" title="Zhang, P., Yu, L., Gao, J., Fu, Q., Dai, F., Zhao, Y., Zheng, L., Zhao, S. <strong>Cloning and characterization of human VPS35 and mouse Vps35 and mapping of VPS35 to human chromosome 16q13-q21.</strong> Genomics 70: 253-257, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11112353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11112353</a>] [<a href="https://doi.org/10.1006/geno.2000.6380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11112353">Zhang et al. (2000)</a> and <a href="#2" class="mim-tip-reference" title="Edgar, A. J., Polak, J. M. <strong>Human homologues of yeast vacuolar protein sorting 29 and 35.</strong> Biochem. Biophys. Res. Commun. 277: 622-630, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062004</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062004">Edgar and Polak (2000)</a> noted that human VPS35 contains a conserved asp residue within an N-terminal domain shown by <a href="#9" class="mim-tip-reference" title="Nothwehr, S. F., Bruinsma, P., Strawn, L. A. <strong>Distinct domains within Vps35p mediate the retrieval of two different cargo proteins from the yeast prevacuolar/endosomal compartment.</strong> Molec. Biol. Cell 10: 875-890, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10198044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10198044</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10198044[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/10.1091/mbc.10.4.875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10198044">Nothwehr et al. (1999)</a> to be specifically involved in a resident trans-Golgi network protein interaction in yeast. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11062004+11112353+10198044" 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="Haft, C. R., de la Luz Sierra, M., Bafford, R., Lesniak, M. A., Barr, V. A., Taylor, S. I. <strong>Human orthologs of yeast vacuolar protein sorting proteins Vps26, 29, and 35: assembly into multimeric complexes.</strong> Molec. Biol. Cell 11: 4105-4116, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11102511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11102511</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11102511[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/10.1091/mbc.11.12.4105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11102511">Haft et al. (2000)</a> used yeast 2-hybrid assays, mutation analysis, and expression in mammalian cells to define the binding interactions among VPS35 and other human orthologs of yeast vacuolar protein sorting proteins, VPS26 (<a href="/entry/605506">605506</a>), SNX1 (<a href="/entry/601272">601272</a>), and VPS29 (<a href="/entry/606932">606932</a>). Their results are consistent with a model in which VPS35 is the core of a multimeric complex. <a href="#4" class="mim-tip-reference" title="Haft, C. R., de la Luz Sierra, M., Bafford, R., Lesniak, M. A., Barr, V. A., Taylor, S. I. <strong>Human orthologs of yeast vacuolar protein sorting proteins Vps26, 29, and 35: assembly into multimeric complexes.</strong> Molec. Biol. Cell 11: 4105-4116, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11102511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11102511</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11102511[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/10.1091/mbc.11.12.4105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11102511">Haft et al. (2000)</a> identified discrete amino acid domains within VPS35 that mediate specific binding to each of these proteins. Gel filtration chromatography of COS-7 cells showed that both recombinant and endogenous VPS proteins coelute as a 220- to 240-kD complex. In the absence of VPS35, neither VPS26 nor VPS29 is found in the complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11102511" 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="#11" class="mim-tip-reference" title="Seaman, M. N. J., Harbour, M. E., Tattersall, D., Read, E., Bright, N. <strong>Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5.</strong> J. Cell Sci. 122: 2371-2382, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19531583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19531583</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19531583[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/10.1242/jcs.048686" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19531583">Seaman et al. (2009)</a> found that the cargo-selective VPS35/VPS29/VPS26 retromer subcomplex interacted with the small GTPase RAB7 (<a href="/entry/602298">602298</a>) and required RAB7 for recruitment to endosomes. The subcomplex interacted with a GTP-locked RAB7 mutant, but a GDP-locked RAB7 mutant inhibited VPS26 recruitment to endosomal membranes. Knockdown of RAB7 in HeLa cells redistributed VPS26 and VPS35 from membranes to the cytoplasm and reduced the efficiency of endosome-to-Golgi retrieval of membrane proteins. <a href="#11" class="mim-tip-reference" title="Seaman, M. N. J., Harbour, M. E., Tattersall, D., Read, E., Bright, N. <strong>Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5.</strong> J. Cell Sci. 122: 2371-2382, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19531583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19531583</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19531583[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/10.1242/jcs.048686" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19531583">Seaman et al. (2009)</a> also found that the GTPase-activating protein TBC1D5 (<a href="/entry/615740">615740</a>) caused dissociation of RAB7 from endosomes and inhibited VPS26 recruitment to endosomal membranes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19531583" 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 exome sequencing of affected members of a Swiss family with autosomal dominant Parkinson disease-17 (PARK17; <a href="/entry/614203">614203</a>) reported by <a href="#13" class="mim-tip-reference" title="Wider, C., Skipper, L., Solida, A., Brown, L., Farrer, M., Dickson, D., Wszolek, Z. K., Vingerhoets, F. J. G. <strong>Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family.</strong> Parkinsonism Relat. Disord. 14: 465-470, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18342564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18342564</a>] [<a href="https://doi.org/10.1016/j.parkreldis.2007.11.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18342564">Wider et al. (2008)</a>, <a href="#12" class="mim-tip-reference" title="Vilarino-Guell, C., Wider, C., Ross, O. A., Dachsel, J. C., Kachergus, J. M., Lincoln, S. J., Soto-Ortolaza, A. I., Cobb, S. A., Wilhoite, G. J., Bacon, J. A., Behrouz, B., Melrose, H. L., and 21 others. <strong>VPS35 mutations in Parkinson disease.</strong> Am. J. Hum. Genet. 89: 162-167, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 347 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21763482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21763482</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21763482[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/10.1016/j.ajhg.2011.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21763482">Vilarino-Guell et al. (2011)</a> identified a heterozygous mutation in the VPS35 gene (D620N; <a href="#0001">601501.0001</a>). Subsequent sequencing of this gene in 4,326 PD patients identified 4 with the same mutation: 3 familial cases and 1 with sporadic disease. Haplotype analysis indicated independent mutational events, suggesting a mutational hotspot. The findings suggested that disruption of endosomal trafficking may underlie neurodegeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18342564+21763482" 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>Simultaneously and independently and by the same method, <a href="#15" class="mim-tip-reference" title="Zimprich, A., Benet-Pages, A., Struhal, W., Graf, E., Eck, S. H., Offman, M. N., Haubenberger, D., Spielberger, S., Schulte, E. C., Lichtner, P., Rossle, S. C., Klopp, N., and 22 others. <strong>A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.</strong> Am. J. Hum. Genet. 89: 168-175, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21763483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21763483</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21763483[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/10.1016/j.ajhg.2011.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21763483">Zimprich et al. (2011)</a> identified the D620N mutation in affected members of a large Austrian family with autosomal dominant parkinsonism. Two additional carriers of this mutation were found among 486 PD patients in Austria. Age-dependent incomplete penetrance was observed. <a href="#15" class="mim-tip-reference" title="Zimprich, A., Benet-Pages, A., Struhal, W., Graf, E., Eck, S. H., Offman, M. N., Haubenberger, D., Spielberger, S., Schulte, E. C., Lichtner, P., Rossle, S. C., Klopp, N., and 22 others. <strong>A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.</strong> Am. J. Hum. Genet. 89: 168-175, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21763483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21763483</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21763483[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/10.1016/j.ajhg.2011.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21763483">Zimprich et al. (2011)</a> identified several other possibly pathogenic VPS35 variants in patients with PD, but the evidence was inconclusive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21763483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By whole-exome sequencing targeting the VPS35 gene in 213 patients with Parkinson disease, <a href="#10" class="mim-tip-reference" title="Nuytemans, K., Bademci, G., Inchausti, V., Dressen, A., Kinnamon, D. D., Mehta, A., Wang, L., Zuchner, S., Beecham, G. W., Martin, E. R., Scott, W. K., Vance, J. M. <strong>Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease.</strong> Neurology 80: 982-989, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23408866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23408866</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23408866[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/10.1212/WNL.0b013e31828727d4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23408866">Nuytemans et al. (2013)</a> found no significant evidence for a major contribution of genetic variability in VPS35 to development of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23408866" 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 exome sequencing of affected members of a Swiss family with autosomal dominant Parkinson disease-17 (PARK17; <a href="/entry/614203">614203</a>) reported by <a href="#13" class="mim-tip-reference" title="Wider, C., Skipper, L., Solida, A., Brown, L., Farrer, M., Dickson, D., Wszolek, Z. K., Vingerhoets, F. J. G. <strong>Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family.</strong> Parkinsonism Relat. Disord. 14: 465-470, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18342564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18342564</a>] [<a href="https://doi.org/10.1016/j.parkreldis.2007.11.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18342564">Wider et al. (2008)</a>, <a href="#12" class="mim-tip-reference" title="Vilarino-Guell, C., Wider, C., Ross, O. A., Dachsel, J. C., Kachergus, J. M., Lincoln, S. J., Soto-Ortolaza, A. I., Cobb, S. A., Wilhoite, G. J., Bacon, J. A., Behrouz, B., Melrose, H. L., and 21 others. <strong>VPS35 mutations in Parkinson disease.</strong> Am. J. Hum. Genet. 89: 162-167, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 347 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21763482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21763482</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21763482[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/10.1016/j.ajhg.2011.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21763482">Vilarino-Guell et al. (2011)</a> identified a heterozygous 1858G-A transition in the VPS35 gene, resulting in an asp620-to-asn (D620N) substitution in a highly conserved residue. Subsequent sequencing of this gene in 4,326 PD patients identified 4 more with the same mutation: 3 familial cases and 1 with sporadic disease. Haplotype analysis indicated independent mutational events, suggesting a mutational hotspot. The mutation was not found in 3,309 controls. The average age at onset was 50.6 years, and patients had tremor-predominant, levodopa-responsive parkinsonism. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18342564+21763482" 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>Simultaneously and independently, <a href="#15" class="mim-tip-reference" title="Zimprich, A., Benet-Pages, A., Struhal, W., Graf, E., Eck, S. H., Offman, M. N., Haubenberger, D., Spielberger, S., Schulte, E. C., Lichtner, P., Rossle, S. C., Klopp, N., and 22 others. <strong>A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.</strong> Am. J. Hum. Genet. 89: 168-175, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21763483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21763483</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21763483[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/10.1016/j.ajhg.2011.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21763483">Zimprich et al. (2011)</a> used exome sequencing to identify the D620N mutation in affected members of a large Austrian family with autosomal dominant parkinsonism. The mutation occurred in exon 15 of the gene. Two additional carriers of this mutation were found among 486 PD patients in Austria. Age-dependent incomplete penetrance was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21763483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By specific screening for the D620N mutation among Japanese patients with Parkinson disease, <a href="#1" class="mim-tip-reference" title="Ando, M,, Funayama, M., Li, Y., Kashihara, K., Murakami, Y., Ishizu, N., Toyoda, C., Noguchi, K., Hashimoto, T., Nakano, N., Sasaki, R., Kokubo, Y., Kuzuhara, S., Ogaki, K., Yamashita, C., Yoshino, H., Hatano, T., Tomiyama, H., Hattori, N. <strong>VPS35 mutation in Japanese patients with typical Parkinson's disease.</strong> Mov. Disord. 27: 1413-1417, 2012. Note: Erratum: Mov. Disord. 35: 2127 only, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22991136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22991136</a>] [<a href="https://doi.org/10.1002/mds.25145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22991136">Ando et al. (2012)</a> identified the heterozygous mutation in 3 (1.0%) of 330 patients with autosomal dominant PD and in 1 (0.23%) of 433 patients with sporadic PD. Haplotype analysis suggested at least 3 independent founders in this population, indicating that it may be a mutational hotspot. Patients with this mutation showed typical adult-onset, tremor-predominant PD with good response to levodopa treatment. The mutation was not found in 1,158 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22991136" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Lesage, S., Condroyer, C., Klebe, S., Honore, A., Tison, F., Brefel-Courbon, C., Durr, A., Brice, A. <strong>Identification of VPS35 mutations replicated in French families with Parkinson disease.</strong> Neurology 78: 1449-1450, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22517097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22517097</a>] [<a href="https://doi.org/10.1212/WNL.0b013e318253d5f2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22517097">Lesage et al. (2012)</a> identified a heterozygous D620N mutation in 3 (1.2%) of 246 mostly French probands with autosomal dominant typical PD. All 3 index patients were of French origin, and the mutation was shown to segregate with the disorder in 1 family; segregation analyses were not available for the 2 remaining families. Two of the French families shared a common haplotype. The mutation was not found in 245 European controls, and no additional pathogenic VPS35 variants were identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22517097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By targeted sequencing, <a href="#7" class="mim-tip-reference" title="Kumar, K. R., Weissbach, A., Heldmann, M., Kasten, M., Tunc, S., Sue, C. M., Svetel, M., Kostic, V. S., Segura-Aguilar, J., Ramirez, A., Simon, D. K., Vieregge, P., Munte, T. F., Hagenah, J., Klein, C., Lohmann, K. <strong>Frequency of the D620N mutation in VPS35 in Parkinson disease.</strong> Arch. Neurol. 69: 1360-1364, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22801713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22801713</a>] [<a href="https://doi.org/10.1001/archneurol.2011.3367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22801713">Kumar et al. (2012)</a> identified a heterozygous VPS35 D620N mutation in 1 of 1,774 patients with Parkinson disease. The patients were ascertained from several tertiary referral centers in Germany, Serbia, Chile, and the United States. The patient with the mutation was a German man who developed typical PD at age 45 years. Family history revealed an affected paternal aunt who carried the mutation, as well as 3 reportedly unaffected sibs in their fifties and sixties who also carried the mutation, indicating incomplete penetrance. <a href="#7" class="mim-tip-reference" title="Kumar, K. R., Weissbach, A., Heldmann, M., Kasten, M., Tunc, S., Sue, C. M., Svetel, M., Kostic, V. S., Segura-Aguilar, J., Ramirez, A., Simon, D. K., Vieregge, P., Munte, T. F., Hagenah, J., Klein, C., Lohmann, K. <strong>Frequency of the D620N mutation in VPS35 in Parkinson disease.</strong> Arch. Neurol. 69: 1360-1364, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22801713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22801713</a>] [<a href="https://doi.org/10.1001/archneurol.2011.3367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22801713">Kumar et al. (2012)</a> concluded that VPS35 mutations are a rare cause of PD, and they estimated a carrier frequency for the D620N mutation of 0.1% among patients with PD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22801713" 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>VPS35 mutation in Japanese patients with typical Parkinson's disease.</strong>
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Mov. Disord. 27: 1413-1417, 2012. Note: Erratum: Mov. Disord. 35: 2127 only, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22991136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22991136</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22991136" 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/mds.25145" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/bbrc.2000.3727" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11102511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11102511</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11102511[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=11102511" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kumar, K. R., Weissbach, A., Heldmann, M., Kasten, M., Tunc, S., Sue, C. M., Svetel, M., Kostic, V. S., Segura-Aguilar, J., Ramirez, A., Simon, D. K., Vieregge, P., Munte, T. F., Hagenah, J., Klein, C., Lohmann, K.
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<strong>Frequency of the D620N mutation in VPS35 in Parkinson disease.</strong>
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Arch. Neurol. 69: 1360-1364, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22801713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22801713</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22801713" 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/10.1001/archneurol.2011.3367" target="_blank">Full Text</a>]
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Lesage, S., Condroyer, C., Klebe, S., Honore, A., Tison, F., Brefel-Courbon, C., Durr, A., Brice, A.
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<strong>Identification of VPS35 mutations replicated in French families with Parkinson disease.</strong>
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Neurology 78: 1449-1450, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22517097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22517097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22517097" 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/10.1212/WNL.0b013e318253d5f2" target="_blank">Full Text</a>]
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Nuytemans, K., Bademci, G., Inchausti, V., Dressen, A., Kinnamon, D. D., Mehta, A., Wang, L., Zuchner, S., Beecham, G. W., Martin, E. R., Scott, W. K., Vance, J. M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23408866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23408866</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23408866[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=23408866" 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/10.1212/WNL.0b013e31828727d4" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19531583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19531583</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19531583[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=19531583" 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/10.1242/jcs.048686" 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="12" class="mim-anchor"></a>
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<a id="Vilarino-Guell2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vilarino-Guell, C., Wider, C., Ross, O. A., Dachsel, J. C., Kachergus, J. M., Lincoln, S. J., Soto-Ortolaza, A. I., Cobb, S. A., Wilhoite, G. J., Bacon, J. A., Behrouz, B., Melrose, H. L., and 21 others.
|
|
<strong>VPS35 mutations in Parkinson disease.</strong>
|
|
Am. J. Hum. Genet. 89: 162-167, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 347 only, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21763482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21763482</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21763482[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=21763482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2011.06.001" 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="13" class="mim-anchor"></a>
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<a id="Wider2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wider, C., Skipper, L., Solida, A., Brown, L., Farrer, M., Dickson, D., Wszolek, Z. K., Vingerhoets, F. J. G.
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<strong>Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family.</strong>
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Parkinsonism Relat. Disord. 14: 465-470, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18342564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18342564</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18342564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.parkreldis.2007.11.013" 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="14" class="mim-anchor"></a>
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<a id="Zhang2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, P., Yu, L., Gao, J., Fu, Q., Dai, F., Zhao, Y., Zheng, L., Zhao, S.
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|
<strong>Cloning and characterization of human VPS35 and mouse Vps35 and mapping of VPS35 to human chromosome 16q13-q21.</strong>
|
|
Genomics 70: 253-257, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11112353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11112353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11112353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.2000.6380" 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="15" class="mim-anchor"></a>
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<a id="Zimprich2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zimprich, A., Benet-Pages, A., Struhal, W., Graf, E., Eck, S. H., Offman, M. N., Haubenberger, D., Spielberger, S., Schulte, E. C., Lichtner, P., Rossle, S. C., Klopp, N., and 22 others.
|
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<strong>A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.</strong>
|
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Am. J. Hum. Genet. 89: 168-175, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21763483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21763483</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21763483[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=21763483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2011.06.008" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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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="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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</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 : 09/14/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 1/5/2015<br>Patricia A. Hartz - updated : 4/15/2014<br>Patricia A. Hartz - updated : 4/14/2014<br>Cassandra L. Kniffin - updated : 1/7/2014<br>Cassandra L. Kniffin - updated : 10/31/2012<br>Cassandra L. Kniffin - updated : 10/15/2012<br>Cassandra L. Kniffin - updated : 9/1/2011
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 11/14/1996
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 04/08/2021
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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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carol : 12/19/2019<br>mgross : 09/14/2017<br>carol : 01/09/2015<br>mcolton : 1/7/2015<br>ckniffin : 1/5/2015<br>mgross : 4/15/2014<br>mcolton : 4/14/2014<br>carol : 1/8/2014<br>ckniffin : 1/7/2014<br>terry : 3/14/2013<br>carol : 11/6/2012<br>ckniffin : 10/31/2012<br>carol : 10/16/2012<br>ckniffin : 10/15/2012<br>carol : 9/2/2011<br>carol : 9/2/2011<br>ckniffin : 9/1/2011<br>carol : 3/20/2009<br>ckniffin : 7/22/2004<br>alopez : 5/10/2002<br>dkim : 9/28/1998<br>terry : 11/14/1996<br>terry : 11/14/1996<br>mark : 11/14/1996
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 601501
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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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VPS35 RETROMER COMPLEX COMPONENT; VPS35
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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VACUOLAR PROTEIN SORTING 35, YEAST, HOMOLOG OF<br />
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MEM3, MOUSE, HOMOLOG OF; MEM3
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: VPS35</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 16q11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:46,656,132-46,689,178 </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="1">
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<span class="mim-font">
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16q11.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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{Parkinson disease 17}
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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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614203
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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">
|
|
<p>The VPS35 gene encodes a component of the retromer cargo-recognition complex critical for endosome-trans-Golgi trafficking and the recycling of membrane-associated proteins (summary by Vilarino-Guell et al., 2011). </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>To study the molecular function of genes expressed during preimplantation development, Hwang et al. (1996) isolated a novel maternal transcript, stage specific embryonic cDNA-26 (SSEC-26), from a partial subtraction library of mouse unfertilized eggs and preimplantation embryos. The SSEC-26 transcript was abundant in the unfertilized egg and also actively transcribed from the newly formed zygotic genome. On the basis of its expression in eggs and embryos, this mouse gene was named Mem3 (maternal-embryonic-3). The deduced amino acid sequence of Mem3 resembles that of the yeast VPS35 protein in 2 separate domains. Hwang et al. (1996) assembled a cDNA sequence of the putative human homolog of Mem3 (VPS35) with partial clones from an EST database. </p><p>By EST database searching for sequences homologous to yeast VPS35, Zhang et al. (2000) identified human VPS35. They cloned a full-length cDNA from a human testis cDNA library. The deduced 796-amino acid protein contains 2 polyadenylation signals. Both human and yeast VPS35, which share 30% identity, lack a hydrophobic region. Northern blot analysis revealed bands at 5.5, 3.6, and 3.0 kb. The major 3.6-kb transcript was expressed at highest levels in brain, heart, testis, ovary, small intestine, spleen, skeletal muscle, and placenta, at moderate levels in pancreas, thymus, prostate, and colon, and at low levels in lung, liver, kidney, and peripheral blood leukocytes. Weaker expression of the 3.0-kb transcript followed the same distribution except in brain, where it was not detected. The 5.5-kb transcript showed low expression in all tissues tested. Zhang et al. (2000) also cloned mouse Vps35, which encodes a 796-amino acid protein containing a single polyadenylation signal. This sequence shares 99% identity with human VPS35 and 49% similarity with yeast VPS35. Northern blot analysis detected a single 3.4-kb transcript expressed at varying levels in all tissues examined. </p><p>Edgar and Polak (2000) independently cloned VPS35 from a human lung cDNA library. Their sequence analysis revealed the presence of a third polyadenylation signal. They found ubiquitous expression of transcripts of 2.8, 3.3, and 6.8 kb corresponding to the use of all 3 polyadenylation signals. Expression was highest in heart, skeletal muscle, kidney, and brain, and lowest in peripheral blood leukocytes. In brain, only the 3.3-kb transcript was observed. By sequence analysis, Edgar and Polak (2000) determined that the protein is predominantly alpha-helical. </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>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p><strong><em>Crystal Structure</em></strong></p><p>
|
|
Hierro et al. (2007) reported the crystal structure of a VPS29-VPS35 subcomplex showing how the metallophosphoesterase-fold subunit VPS29 acts as a scaffold for the C-terminal half of VPS35. VPS35 forms a horseshoe-shaped, right-handed, alpha-helical solenoid, the concave face of which completely covers the metal-binding site of VPS29, whereas the convex face exposes a series of hydrophobic interhelical grooves. Electron microscopy showed that the intact VPS26-VPS29-VPS35 complex is a stick-shaped, flexible structure, approximately 21 nanometers long. A hybrid structural model derived from crystal structures, electron microscopy, interaction studies, and bioinformatics showed that the alpha-solenoid fold extends the full length of VPS35, and that VPS26 is bound at the opposite end from VPS29. This extended structure presents multiple binding sites for the SNX complex and receptor cargo, and appears capable of flexing to conform to curved vesicular membranes. </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>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Edgar and Polak (2000) determined that VPS35 is present in the genome in single copy, has 17 exons, and spans 29.6 kb. Analysis of the 5-prime region revealed no evidence of a CpG island. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</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 radiation hybrid analysis, Zhang et al. (2000) mapped the VPS35 gene to chromosome 16q13-q21. </p><p>Gross (2017) mapped the VPS35 gene to chromosome 16q11.2 based on an alignment of the VPS35 sequence (GenBank AF175265) with the genomic sequence (GRCh38).</p><p>By PCR-based analysis of an interspecific mapping panel, Hwang et al. (1996) mapped the mouse Mem3 gene to chromosome 8 near the glutaryl CoA dehydrogenase locus (608801). </p>
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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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<p>Zhang et al. (2000) and Edgar and Polak (2000) noted that human VPS35 contains a conserved asp residue within an N-terminal domain shown by Nothwehr et al. (1999) to be specifically involved in a resident trans-Golgi network protein interaction in yeast. </p><p>Haft et al. (2000) used yeast 2-hybrid assays, mutation analysis, and expression in mammalian cells to define the binding interactions among VPS35 and other human orthologs of yeast vacuolar protein sorting proteins, VPS26 (605506), SNX1 (601272), and VPS29 (606932). Their results are consistent with a model in which VPS35 is the core of a multimeric complex. Haft et al. (2000) identified discrete amino acid domains within VPS35 that mediate specific binding to each of these proteins. Gel filtration chromatography of COS-7 cells showed that both recombinant and endogenous VPS proteins coelute as a 220- to 240-kD complex. In the absence of VPS35, neither VPS26 nor VPS29 is found in the complex. </p><p>Seaman et al. (2009) found that the cargo-selective VPS35/VPS29/VPS26 retromer subcomplex interacted with the small GTPase RAB7 (602298) and required RAB7 for recruitment to endosomes. The subcomplex interacted with a GTP-locked RAB7 mutant, but a GDP-locked RAB7 mutant inhibited VPS26 recruitment to endosomal membranes. Knockdown of RAB7 in HeLa cells redistributed VPS26 and VPS35 from membranes to the cytoplasm and reduced the efficiency of endosome-to-Golgi retrieval of membrane proteins. Seaman et al. (2009) also found that the GTPase-activating protein TBC1D5 (615740) caused dissociation of RAB7 from endosomes and inhibited VPS26 recruitment to endosomal membranes. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>By exome sequencing of affected members of a Swiss family with autosomal dominant Parkinson disease-17 (PARK17; 614203) reported by Wider et al. (2008), Vilarino-Guell et al. (2011) identified a heterozygous mutation in the VPS35 gene (D620N; 601501.0001). Subsequent sequencing of this gene in 4,326 PD patients identified 4 with the same mutation: 3 familial cases and 1 with sporadic disease. Haplotype analysis indicated independent mutational events, suggesting a mutational hotspot. The findings suggested that disruption of endosomal trafficking may underlie neurodegeneration. </p><p>Simultaneously and independently and by the same method, Zimprich et al. (2011) identified the D620N mutation in affected members of a large Austrian family with autosomal dominant parkinsonism. Two additional carriers of this mutation were found among 486 PD patients in Austria. Age-dependent incomplete penetrance was observed. Zimprich et al. (2011) identified several other possibly pathogenic VPS35 variants in patients with PD, but the evidence was inconclusive. </p><p>By whole-exome sequencing targeting the VPS35 gene in 213 patients with Parkinson disease, Nuytemans et al. (2013) found no significant evidence for a major contribution of genetic variability in VPS35 to development of the disorder. </p>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>1 Selected Example):</strong>
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</span>
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</h4>
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<div>
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<p />
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<h4>
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<span class="mim-font">
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<strong>.0001 PARKINSON DISEASE 17</strong>
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</span>
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</h4>
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VPS35, ASP620ASN
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<br />
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SNP: rs188286943,
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ClinVar: RCV000023115, RCV004719658
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<span class="mim-text-font">
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<p>By exome sequencing of affected members of a Swiss family with autosomal dominant Parkinson disease-17 (PARK17; 614203) reported by Wider et al. (2008), Vilarino-Guell et al. (2011) identified a heterozygous 1858G-A transition in the VPS35 gene, resulting in an asp620-to-asn (D620N) substitution in a highly conserved residue. Subsequent sequencing of this gene in 4,326 PD patients identified 4 more with the same mutation: 3 familial cases and 1 with sporadic disease. Haplotype analysis indicated independent mutational events, suggesting a mutational hotspot. The mutation was not found in 3,309 controls. The average age at onset was 50.6 years, and patients had tremor-predominant, levodopa-responsive parkinsonism. </p><p>Simultaneously and independently, Zimprich et al. (2011) used exome sequencing to identify the D620N mutation in affected members of a large Austrian family with autosomal dominant parkinsonism. The mutation occurred in exon 15 of the gene. Two additional carriers of this mutation were found among 486 PD patients in Austria. Age-dependent incomplete penetrance was observed. </p><p>By specific screening for the D620N mutation among Japanese patients with Parkinson disease, Ando et al. (2012) identified the heterozygous mutation in 3 (1.0%) of 330 patients with autosomal dominant PD and in 1 (0.23%) of 433 patients with sporadic PD. Haplotype analysis suggested at least 3 independent founders in this population, indicating that it may be a mutational hotspot. Patients with this mutation showed typical adult-onset, tremor-predominant PD with good response to levodopa treatment. The mutation was not found in 1,158 control chromosomes. </p><p>Lesage et al. (2012) identified a heterozygous D620N mutation in 3 (1.2%) of 246 mostly French probands with autosomal dominant typical PD. All 3 index patients were of French origin, and the mutation was shown to segregate with the disorder in 1 family; segregation analyses were not available for the 2 remaining families. Two of the French families shared a common haplotype. The mutation was not found in 245 European controls, and no additional pathogenic VPS35 variants were identified. </p><p>By targeted sequencing, Kumar et al. (2012) identified a heterozygous VPS35 D620N mutation in 1 of 1,774 patients with Parkinson disease. The patients were ascertained from several tertiary referral centers in Germany, Serbia, Chile, and the United States. The patient with the mutation was a German man who developed typical PD at age 45 years. Family history revealed an affected paternal aunt who carried the mutation, as well as 3 reportedly unaffected sibs in their fifties and sixties who also carried the mutation, indicating incomplete penetrance. Kumar et al. (2012) concluded that VPS35 mutations are a rare cause of PD, and they estimated a carrier frequency for the D620N mutation of 0.1% among patients with PD. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Ando, M,, Funayama, M., Li, Y., Kashihara, K., Murakami, Y., Ishizu, N., Toyoda, C., Noguchi, K., Hashimoto, T., Nakano, N., Sasaki, R., Kokubo, Y., Kuzuhara, S., Ogaki, K., Yamashita, C., Yoshino, H., Hatano, T., Tomiyama, H., Hattori, N.
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<strong>VPS35 mutation in Japanese patients with typical Parkinson's disease.</strong>
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Mov. Disord. 27: 1413-1417, 2012. Note: Erratum: Mov. Disord. 35: 2127 only, 2020.
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[PubMed: 22991136]
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[Full Text: https://doi.org/10.1002/mds.25145]
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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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Edgar, A. J., Polak, J. M.
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<strong>Human homologues of yeast vacuolar protein sorting 29 and 35.</strong>
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Biochem. Biophys. Res. Commun. 277: 622-630, 2000.
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[PubMed: 11062004]
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[Full Text: https://doi.org/10.1006/bbrc.2000.3727]
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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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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 9/14/2017.
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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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Haft, C. R., de la Luz Sierra, M., Bafford, R., Lesniak, M. A., Barr, V. A., Taylor, S. I.
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<strong>Human orthologs of yeast vacuolar protein sorting proteins Vps26, 29, and 35: assembly into multimeric complexes.</strong>
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Molec. Biol. Cell 11: 4105-4116, 2000.
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[PubMed: 11102511]
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[Full Text: https://doi.org/10.1091/mbc.11.12.4105]
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</li>
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<p class="mim-text-font">
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Hierro, A., Rojas, A. L., Rojas, R., Murthy, N., Effantin, G., Kajava, A. V., Steven, A. C., Bonifacino, J. S., Hurley, J. H.
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<strong>Functional architecture of the retromer cargo-recognition complex.</strong>
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Nature 449: 1063-1067, 2007.
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[PubMed: 17891154]
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[Full Text: https://doi.org/10.1038/nature06216]
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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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Hwang, S.-Y., Benjamin, L. E., Oh, B., Rothstein, J. L., Ackerman, S. L., Beddington, R. S. P., Solter, D., Knowles, B. B.
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<strong>Genetic mapping and embryonic expression of a novel, maternally transcribed gene Mem3.</strong>
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Mammalian Genome 7: 586-590, 1996.
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[PubMed: 8678978]
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[Full Text: https://doi.org/10.1007/s003359900174]
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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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Kumar, K. R., Weissbach, A., Heldmann, M., Kasten, M., Tunc, S., Sue, C. M., Svetel, M., Kostic, V. S., Segura-Aguilar, J., Ramirez, A., Simon, D. K., Vieregge, P., Munte, T. F., Hagenah, J., Klein, C., Lohmann, K.
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<strong>Frequency of the D620N mutation in VPS35 in Parkinson disease.</strong>
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Arch. Neurol. 69: 1360-1364, 2012.
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[PubMed: 22801713]
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[Full Text: https://doi.org/10.1001/archneurol.2011.3367]
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</li>
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<li>
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<p class="mim-text-font">
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Lesage, S., Condroyer, C., Klebe, S., Honore, A., Tison, F., Brefel-Courbon, C., Durr, A., Brice, A.
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<strong>Identification of VPS35 mutations replicated in French families with Parkinson disease.</strong>
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Neurology 78: 1449-1450, 2012.
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[PubMed: 22517097]
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[Full Text: https://doi.org/10.1212/WNL.0b013e318253d5f2]
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</li>
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<li>
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<p class="mim-text-font">
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Nothwehr, S. F., Bruinsma, P., Strawn, L. A.
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<strong>Distinct domains within Vps35p mediate the retrieval of two different cargo proteins from the yeast prevacuolar/endosomal compartment.</strong>
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Molec. Biol. Cell 10: 875-890, 1999.
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[PubMed: 10198044]
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[Full Text: https://doi.org/10.1091/mbc.10.4.875]
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<p class="mim-text-font">
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Nuytemans, K., Bademci, G., Inchausti, V., Dressen, A., Kinnamon, D. D., Mehta, A., Wang, L., Zuchner, S., Beecham, G. W., Martin, E. R., Scott, W. K., Vance, J. M.
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<strong>Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease.</strong>
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Neurology 80: 982-989, 2013.
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[PubMed: 23408866]
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[Full Text: https://doi.org/10.1212/WNL.0b013e31828727d4]
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</li>
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<li>
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<p class="mim-text-font">
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Seaman, M. N. J., Harbour, M. E., Tattersall, D., Read, E., Bright, N.
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<strong>Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5.</strong>
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J. Cell Sci. 122: 2371-2382, 2009.
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[PubMed: 19531583]
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[Full Text: https://doi.org/10.1242/jcs.048686]
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</li>
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<li>
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<p class="mim-text-font">
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Vilarino-Guell, C., Wider, C., Ross, O. A., Dachsel, J. C., Kachergus, J. M., Lincoln, S. J., Soto-Ortolaza, A. I., Cobb, S. A., Wilhoite, G. J., Bacon, J. A., Behrouz, B., Melrose, H. L., and 21 others.
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<strong>VPS35 mutations in Parkinson disease.</strong>
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Am. J. Hum. Genet. 89: 162-167, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 347 only, 2011.
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[PubMed: 21763482]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.06.001]
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<li>
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<p class="mim-text-font">
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Wider, C., Skipper, L., Solida, A., Brown, L., Farrer, M., Dickson, D., Wszolek, Z. K., Vingerhoets, F. J. G.
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<strong>Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family.</strong>
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Parkinsonism Relat. Disord. 14: 465-470, 2008.
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[PubMed: 18342564]
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[Full Text: https://doi.org/10.1016/j.parkreldis.2007.11.013]
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<li>
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<p class="mim-text-font">
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Zhang, P., Yu, L., Gao, J., Fu, Q., Dai, F., Zhao, Y., Zheng, L., Zhao, S.
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<strong>Cloning and characterization of human VPS35 and mouse Vps35 and mapping of VPS35 to human chromosome 16q13-q21.</strong>
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Genomics 70: 253-257, 2000.
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[PubMed: 11112353]
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[Full Text: https://doi.org/10.1006/geno.2000.6380]
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</li>
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<li>
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<p class="mim-text-font">
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Zimprich, A., Benet-Pages, A., Struhal, W., Graf, E., Eck, S. H., Offman, M. N., Haubenberger, D., Spielberger, S., Schulte, E. C., Lichtner, P., Rossle, S. C., Klopp, N., and 22 others.
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<strong>A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.</strong>
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Am. J. Hum. Genet. 89: 168-175, 2011.
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[PubMed: 21763483]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.06.008]
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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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 : 09/14/2017<br>Cassandra L. Kniffin - updated : 1/5/2015<br>Patricia A. Hartz - updated : 4/15/2014<br>Patricia A. Hartz - updated : 4/14/2014<br>Cassandra L. Kniffin - updated : 1/7/2014<br>Cassandra L. Kniffin - updated : 10/31/2012<br>Cassandra L. Kniffin - updated : 10/15/2012<br>Cassandra L. Kniffin - updated : 9/1/2011
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 11/14/1996
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Edit History:
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alopez : 04/08/2021<br>carol : 12/19/2019<br>mgross : 09/14/2017<br>carol : 01/09/2015<br>mcolton : 1/7/2015<br>ckniffin : 1/5/2015<br>mgross : 4/15/2014<br>mcolton : 4/14/2014<br>carol : 1/8/2014<br>ckniffin : 1/7/2014<br>terry : 3/14/2013<br>carol : 11/6/2012<br>ckniffin : 10/31/2012<br>carol : 10/16/2012<br>ckniffin : 10/15/2012<br>carol : 9/2/2011<br>carol : 9/2/2011<br>ckniffin : 9/1/2011<br>carol : 3/20/2009<br>ckniffin : 7/22/2004<br>alopez : 5/10/2002<br>dkim : 9/28/1998<br>terry : 11/14/1996<br>terry : 11/14/1996<br>mark : 11/14/1996
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