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Entry
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- *608375 - DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 6; DNAJC6
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- OMIM
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<p>
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<span class="h4">*608375</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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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608375">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<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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<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=ENSG00000116675;t=ENST00000371069" 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=9829" 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=608375" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000116675;t=ENST00000371069" 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_001256864,NM_001256865,NM_014787" 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_001256864" 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=608375" 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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<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=16326&isoform_id=16326_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/DNAJC6" 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/7662146,71051992,109818722,115344393,115344404,119626938,119626939,119626940,119626941,119626942,221041334,379030615,379030617,440578658,929654006" 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/O75061" 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 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=9829" 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=ENSG00000116675;t=ENST00000371069" 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=DNAJC6" 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=DNAJC6" 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+9829" 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/DNAJC6" 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:9829" 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/9829" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000371069.5&hgg_start=65264749&hgg_end=65415871&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 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="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15469" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608375[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608375[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/ENSG00000116675" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=DNAJC6" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=DNAJC6" 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=DNAJC6" 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=DNAJC6&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/PA27423" 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:15469" 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/FBgn0037218.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:1919935" 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/DNAJC6#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:1919935" 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/9829/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=9829" 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=WBGene00001043;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-080104-2" 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:9829" 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=DNAJC6&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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608375
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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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DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 6; DNAJC6
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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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DJC6<br />
|
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AUXILIN, BOVINE, HOMOLOG OF<br />
|
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KIAA0473
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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=DNAJC6" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DNAJC6</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/1/688?start=-3&limit=10&highlight=688">1p31.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:65264749-65415871&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:65,264,749-65,415,871</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
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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>
|
|
Location
|
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</th>
|
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
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</thead>
|
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<tbody>
|
|
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|
<tr>
|
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<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/688?start=-3&limit=10&highlight=688">
|
|
1p31.3
|
|
</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Parkinson disease 19a, juvenile-onset
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/615528"> 615528 </a>
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Parkinson disease 19b, early-onset
|
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|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/615528"> 615528 </a>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/608375" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/608375" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>The DNAJC6 gene encodes auxilin, a neuronal protein that functions specifically in the pathway of clathrin-mediated endocytosis. It shares homology with the ubiquitously expressed GAK (<a href="/entry/602052">602052</a>), and both proteins act as cochaperones to support the HSC70 (<a href="/entry/600816">600816</a>)-dependent clathrin uncoating of clathrin-coated vesicles (summary by <a href="#10" class="mim-tip-reference" title="Yim, Y.-I., Sun, T., Wu, L.-G., Raimondi, A., De Camilli, P., Eisenberg, E., Greene, L. E. <strong>Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice.</strong> Proc. Nat. Acad. Sci. 107: 4412-4417, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20160091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20160091</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20160091[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1000738107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20160091">Yim et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20160091" 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>DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (<a href="#7" class="mim-tip-reference" title="Ohtsuka, K., Hata, M. <strong>Mammalian HSP40/DNAJ homologs: cloning of novel cDNAs and a proposal for their classification and nomenclature.</strong> Cell Stress Chaperones 5: 98-112, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11147971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11147971</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11147971[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/10.1379/1466-1268(2000)005<0098:mhdhco>2.0.co;2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11147971">Ohtsuka and Hata, 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11147971" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from a size-fractionated brain cDNA library, <a href="#9" class="mim-tip-reference" title="Seki, N., Ohira, M., Nagase, T., Ishikawa, K., Miyajima, N., Nakajima, D., Nomura, N., Ohara, O. <strong>Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.</strong> DNA Res. 4: 345-349, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9455484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9455484</a>] [<a href="https://doi.org/10.1093/dnares/4.5.345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9455484">Seki et al. (1997)</a> cloned DNAJC6, which they designated KIAA0473. The predicted protein contains 913 amino acids and shares 95% amino acid identity with bovine auxilin (<a href="#4" class="mim-tip-reference" title="Ishikawa, K., Nagase, T., Nakajima, D., Seki, N., Ohira, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 4: 307-313, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9455477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9455477</a>] [<a href="https://doi.org/10.1093/dnares/4.5.307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9455477">Ishikawa et al., 1997</a>). Using RT-PCR, <a href="#4" class="mim-tip-reference" title="Ishikawa, K., Nagase, T., Nakajima, D., Seki, N., Ohira, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 4: 307-313, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9455477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9455477</a>] [<a href="https://doi.org/10.1093/dnares/4.5.307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9455477">Ishikawa et al. (1997)</a> detected expression of DNAJC6 in all tissues tested, with predominant expression in brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9455477+9455484" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Ohtsuka, K., Hata, M. <strong>Mammalian HSP40/DNAJ homologs: cloning of novel cDNAs and a proposal for their classification and nomenclature.</strong> Cell Stress Chaperones 5: 98-112, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11147971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11147971</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11147971[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/10.1379/1466-1268(2000)005<0098:mhdhco>2.0.co;2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11147971">Ohtsuka and Hata (2000)</a> stated that the 910-amino acid bovine auxilin protein, which is homologous to DNAJC6, has a J domain at residues 841 to 910, but it does not have G/F-rich or cys-rich domains. PSORT analysis suggested both a nuclear and cytoplasmic localization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11147971" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Koroglu, C., Baysal, L., Cetinkaya, M., Karasoy, H., Tolun, A. <strong>DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.</strong> Parkinsonism Relat. Disord. 19: 320-324, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23211418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23211418</a>] [<a href="https://doi.org/10.1016/j.parkreldis.2012.11.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23211418">Koroglu et al. (2013)</a> found abundant expression of the DNAJC6 gene in various human brain regions, including cerebellum, corpus callosum, cortex, striatum, brainstem, pons, putamen, spinal cord, and substantia nigra. There was very low expression in nonneural tissues, such as leukocytes, liver, adipose tissue, skeletal muscle, and bone marrow. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23211418" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Fotin, A., Cheng, Y., Grigorieff, N., Walz, T., Harrison, S. C., Kirchhausen, T. <strong>Structure of an auxilin-bound clathrin coat and its implications for the mechanism of uncoating.</strong> Nature 432: 649-653, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502813</a>] [<a href="https://doi.org/10.1038/nature03078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502813">Fotin et al. (2004)</a> used electron cryomicroscopy to determine the 12-angstrom resolution structures of in vitro-assembled clathrin (see <a href="/entry/118955">118955</a>) coats in association with a C-terminal fragment of auxilin that contains both the clathrin-binding region and the J domain. They located the auxilin fragment by computing differences between these structures and those lacking auxilin. Auxilin binds within the clathrin lattice near contacts between inward-projecting C-terminal helical tripod and the crossing of 2 'ankle' segments; it also contacts the terminal domain of yet another clathrin 'leg.' Auxilin therefore recruits HSC70 (<a href="/entry/600816">600816</a>) to the neighborhood of a set of critical interactions. Auxilin binding produces a local change in heavy-chain contacts, creating a detectable global distortion of the clathrin coat. <a href="#3" class="mim-tip-reference" title="Fotin, A., Cheng, Y., Grigorieff, N., Walz, T., Harrison, S. C., Kirchhausen, T. <strong>Structure of an auxilin-bound clathrin coat and its implications for the mechanism of uncoating.</strong> Nature 432: 649-653, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502813</a>] [<a href="https://doi.org/10.1038/nature03078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502813">Fotin et al. (2004)</a> proposed a mechanism by which local destabilization of the lattice promotes general uncoating. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15502813" 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="#4" class="mim-tip-reference" title="Ishikawa, K., Nagase, T., Nakajima, D., Seki, N., Ohira, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 4: 307-313, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9455477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9455477</a>] [<a href="https://doi.org/10.1093/dnares/4.5.307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9455477">Ishikawa et al. (1997)</a> mapped the DNAJC6 gene to chromosome 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9455477" 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>Auxilin is selectively expressed in neurons and is enriched in nerve terminals, where it plays a role in clathrin-mediated endocytosis (summary by <a href="#1" class="mim-tip-reference" title="Edvardson, S., Cinnamon, Y., Ta-Shma, A., Shaag, A., Yim, Y.-I., Zenvirt, S., Jalas, C., Lesage, S., Brice, A., Taraboulos, A., Kaestner, K. H., Greene, L. E., Elpeleg, O. <strong>A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.</strong> PLoS One 7: e36458, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22563501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22563501</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22563501[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/10.1371/journal.pone.0036458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22563501">Edvardson et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22563501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 brothers, born of consanguineous Palestinian parents, with juvenile-onset Parkinson disease-19A (PARK19A; <a href="/entry/615528">615528</a>), <a href="#1" class="mim-tip-reference" title="Edvardson, S., Cinnamon, Y., Ta-Shma, A., Shaag, A., Yim, Y.-I., Zenvirt, S., Jalas, C., Lesage, S., Brice, A., Taraboulos, A., Kaestner, K. H., Greene, L. E., Elpeleg, O. <strong>A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.</strong> PLoS One 7: e36458, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22563501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22563501</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22563501[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/10.1371/journal.pone.0036458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22563501">Edvardson et al. (2012)</a> identified a homozygous loss-of-function mutation in the DNAJC6 gene (<a href="#0001">608375.0001</a>). The mutation was found by homozygosity mapping combined with whole-exome sequencing. Because the DNAJC6 gene plays a role in clathrin-mediated endocytosis, the findings suggested that a defect in the neuronal endocytic/lysosomal pathway contributes to the pathogenesis of Parkinson disease. <a href="#1" class="mim-tip-reference" title="Edvardson, S., Cinnamon, Y., Ta-Shma, A., Shaag, A., Yim, Y.-I., Zenvirt, S., Jalas, C., Lesage, S., Brice, A., Taraboulos, A., Kaestner, K. H., Greene, L. E., Elpeleg, O. <strong>A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.</strong> PLoS One 7: e36458, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22563501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22563501</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22563501[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/10.1371/journal.pone.0036458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22563501">Edvardson et al. (2012)</a> noted that other significant genes mutated in Parkinson disease (PD), including SNCA (<a href="/entry/163890">163890</a>) and LRRK2 (<a href="/entry/609007">609007</a>), participate in synaptic vesicle recycling, underscoring the role of the endosomal/lysosomal pathway in PD. Mutations in the DNAJC6 gene were not found in 15 additional patients with early-onset Parkinson disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22563501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Koroglu, C., Baysal, L., Cetinkaya, M., Karasoy, H., Tolun, A. <strong>DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.</strong> Parkinsonism Relat. Disord. 19: 320-324, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23211418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23211418</a>] [<a href="https://doi.org/10.1016/j.parkreldis.2012.11.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23211418">Koroglu et al. (2013)</a> identified a homozygous loss-of-function mutation in the DNAJC6 gene (<a href="#0002">608375.0002</a>) in affected members of a consanguineous Turkish family with severe juvenile-onset PARK19A and mental retardation. The mutation was found by homozygosity mapping and whole-exome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23211418" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 2 unrelated families with early-onset PARK19B (see <a href="/entry/615528">615528</a>), <a href="#8" class="mim-tip-reference" title="Olgiati, S., Quadri, M., Fang, M., Rood, J. P. M. A., Saute, J. A., Chien, H. F., Bouwkamp, C. G., Graafland, J., Minneboo, M., Breedveld, G. J., Zhang, J., The International Parkinsonism Genetics Network, and 10 others. <strong>DNAJC6 mutations associated with early-onset Parkinson's disease.</strong> Ann. Neurol. 79: 244-256, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26528954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26528954</a>] [<a href="https://doi.org/10.1002/ana.24553" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26528954">Olgiati et al. (2016)</a> identified 2 different homozygous mutations in the DNAJC6 gene: a missense mutation (R927G; <a href="#0003">608375.0003</a>) and a putative splice site mutation (c.2223A-T; <a href="#0004">608375.0004</a>). Patient fibroblasts from both families showed significantly decreased, but detectable, levels of DNAJC6 compared to controls, suggesting a loss of function effect. The patients had onset of symptoms between the third and fifth decades of life, features of classic PD, slow disease progression, and good response to dopaminergic medication. <a href="#8" class="mim-tip-reference" title="Olgiati, S., Quadri, M., Fang, M., Rood, J. P. M. A., Saute, J. A., Chien, H. F., Bouwkamp, C. G., Graafland, J., Minneboo, M., Breedveld, G. J., Zhang, J., The International Parkinsonism Genetics Network, and 10 others. <strong>DNAJC6 mutations associated with early-onset Parkinson's disease.</strong> Ann. Neurol. 79: 244-256, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26528954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26528954</a>] [<a href="https://doi.org/10.1002/ana.24553" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26528954">Olgiati et al. (2016)</a> noted that the phenotype in these patients was not as severe as that observed in patients with truncating mutations, suggesting that some residual activity may mitigate the phenotype. The families accounted for 2 (2.2%) of 92 probands with autosomal recessive PD who underwent sequencing of the DNAJC6 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26528954" 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="#10" class="mim-tip-reference" title="Yim, Y.-I., Sun, T., Wu, L.-G., Raimondi, A., De Camilli, P., Eisenberg, E., Greene, L. E. <strong>Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice.</strong> Proc. Nat. Acad. Sci. 107: 4412-4417, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20160091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20160091</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20160091[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1000738107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20160091">Yim et al. (2010)</a> found that Dnajc6-null mice had a high rate of early postnatal mortality, although surviving pups had a normal life span despite decreased body weight. Knockout mice had impaired synaptic vesicle recycling, with an increased number of clathrin-coated vesicles, and impaired clathrin-mediated endocytosis of synaptic vesicles in neuronal culture. There was an upregulation of Gak, but this did not fully compensate for the lack of Dnajc6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20160091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In brains of Dnajc6-null mice, <a href="#1" class="mim-tip-reference" title="Edvardson, S., Cinnamon, Y., Ta-Shma, A., Shaag, A., Yim, Y.-I., Zenvirt, S., Jalas, C., Lesage, S., Brice, A., Taraboulos, A., Kaestner, K. H., Greene, L. E., Elpeleg, O. <strong>A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.</strong> PLoS One 7: e36458, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22563501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22563501</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22563501[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/10.1371/journal.pone.0036458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22563501">Edvardson et al. (2012)</a> did not find alteration in substantia nigra morphology or dopamine transporter abundance or distribution, in agreement with the lack of gait or movement abnormalities in the mutant mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22563501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608375[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In 2 brothers, born of consanguineous Arab-Muslim parents of Palestinian origin, with juvenile-onset Parkinson disease-19A (PARK19A; <a href="/entry/615528">615528</a>), <a href="#1" class="mim-tip-reference" title="Edvardson, S., Cinnamon, Y., Ta-Shma, A., Shaag, A., Yim, Y.-I., Zenvirt, S., Jalas, C., Lesage, S., Brice, A., Taraboulos, A., Kaestner, K. H., Greene, L. E., Elpeleg, O. <strong>A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.</strong> PLoS One 7: e36458, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22563501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22563501</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22563501[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/10.1371/journal.pone.0036458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22563501">Edvardson et al. (2012)</a> identified a homozygous c.801-2A-G transition in intron 6 of the DNAJC6 gene. Analysis of patient cells showed that the mutation resulted in the generation of 2 misspliced transcripts: an in-frame exon 7-skipped transcript lacking residues 268-328, and an out-of-frame transcript with an insertion of the last 91 nucleotides of intron 6, resulting in the addition of 8 residues before a termination codon. The normally spliced transcript was undetectable, and the mutant transcripts were unstable, consistent with a loss of function. The mutation was found by homozygosity mapping combined with whole-exome sequencing. The mutation was confirmed by Sanger sequencing and segregated with the disorder in the family. It was not found in the 1000 Genomes Project or Exome Sequencing Project databases, or in 208 ethnically matched controls. Heterozygous family members had no neurologic deficits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22563501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Jesus, S., Gomez-Garre, P., Carrillo, F., Caceres-Redondo, M. T., Huertas-Fernandez, I., Bernal-Bernal, I., Bonilla-Toribio, M., Vargas-Gonzalez, L., Carballo, M., Mir, P. <strong>Analysis of c.801-2A-G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain. (Letter)</strong> Parkinsonism Relat. Disord. 20: 248-249, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24220513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24220513</a>] [<a href="https://doi.org/10.1016/j.parkreldis.2013.10.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24220513">Jesus et al. (2014)</a> did not find the c.801-2A-G mutation in 356 patients with Parkinson disease from southern Spain, including 21 patients with juvenile-onset PD (before age 35 years) and 36 patients with early-onset PD (between 35 and 45 years). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24220513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 4 affected individuals from a large, highly consanguineous Turkish family with juvenile-onset Parkinson disease-19A (PARK19A; <a href="/entry/615528">615528</a>) and mental retardation, <a href="#6" class="mim-tip-reference" title="Koroglu, C., Baysal, L., Cetinkaya, M., Karasoy, H., Tolun, A. <strong>DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.</strong> Parkinsonism Relat. Disord. 19: 320-324, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23211418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23211418</a>] [<a href="https://doi.org/10.1016/j.parkreldis.2012.11.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23211418">Koroglu et al. (2013)</a> identified a homozygous c.2200C-T transition in exon 16 of the DNAJC6 gene, resulting in a gln734-to-ter (Q734X) substitution, truncation of the protein by about 20%, and a null allele. The mutation was found by homozygosity mapping combined with whole-exome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23211418" 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>.0003 PARKINSON DISEASE 19B, EARLY-ONSET</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879255630 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255630;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs879255630" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs879255630" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000239521 OR RCV001420731" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239521, RCV001420731" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239521...</a>
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<p>In 2 sibs, born of Dutch parents (family GPS-0313), with Parkinson disease-19B (PARK19B; see <a href="/entry/615528">615528</a>), <a href="#8" class="mim-tip-reference" title="Olgiati, S., Quadri, M., Fang, M., Rood, J. P. M. A., Saute, J. A., Chien, H. F., Bouwkamp, C. G., Graafland, J., Minneboo, M., Breedveld, G. J., Zhang, J., The International Parkinsonism Genetics Network, and 10 others. <strong>DNAJC6 mutations associated with early-onset Parkinson's disease.</strong> Ann. Neurol. 79: 244-256, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26528954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26528954</a>] [<a href="https://doi.org/10.1002/ana.24553" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26528954">Olgiati et al. (2016)</a> identified a homozygous c.2779A-G transition (c.2779A-G, NM_001256864.1) in the DNAJC6 gene, resulting in an arg927-to-gly (R927G) substitution at a highly conserved residue in the J domain, which is a known crucial functional domain. The mutation, which was found by Sanger sequencing of the DNAJC6 gene, linkage analysis, and exome sequencing, segregated with the disorder in the family and was not found in the dbSNP (build 141), 1000 Genomes Project, Exome Variant Server (ESP6500S1-V2), or ExAC databases. The patients developed Parkinson disease in the third decade of life. Patient fibroblasts showed significantly decreased, but detectable, levels of DNAJC6 compared to controls, suggesting a loss-of-function effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26528954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 PARKINSON DISEASE 19B, EARLY-ONSET</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879255554 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255554;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs879255554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs879255554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000239573 OR RCV001420733" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239573, RCV001420733" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239573...</a>
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<p>In 2 sibs, born of parents (family PAL-50) from southern Brazil, with Parkinson disease-19B (PARK19B; see <a href="/entry/615528">615528</a>), <a href="#8" class="mim-tip-reference" title="Olgiati, S., Quadri, M., Fang, M., Rood, J. P. M. A., Saute, J. A., Chien, H. F., Bouwkamp, C. G., Graafland, J., Minneboo, M., Breedveld, G. J., Zhang, J., The International Parkinsonism Genetics Network, and 10 others. <strong>DNAJC6 mutations associated with early-onset Parkinson's disease.</strong> Ann. Neurol. 79: 244-256, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26528954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26528954</a>] [<a href="https://doi.org/10.1002/ana.24553" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26528954">Olgiati et al. (2016)</a> identified a homozygous A-to-T transversion in the DNAJC6 gene located 5 bases before the end of exon 15 (c.2223A-T, NM_001256864.1) and predicted to result in a splicing defect. The mutation, which was found by Sanger sequencing of the DNAJC6 gene, linkage analysis, and exome sequencing, segregated with the disorder in the family and was not found in the dbSNP (build 141), 1000 Genomes Project, Exome Variant Server (ESP6500S1-V2), or ExAC databases. If translated, the mutation would result in a synonymous change, thr741-to-thr (T741T). Both patients also carried a heterozygous missense variant (L363P) in the GBA gene (<a href="/entry/606463">606463</a>), variants in which are known to be risk factors for Parkinson disease. The patients developed Parkinson disease at 42 and 31 years of age. Patient fibroblasts showed significantly decreased, but detectable, levels of DNAJC6 compared to controls, suggesting a loss-of-function effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26528954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 PARKINSON DISEASE 19A, JUVENILE-ONSET</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs886039854 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886039854;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs886039854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs886039854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000256354" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000256354" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000256354</a>
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<p>In a girl, born of consanguineous parents of Yemeni origin, with onset of Parkinson disease-19A (PARK19A; <a href="/entry/615528">615528</a>) at age 10.5 years, <a href="#2" class="mim-tip-reference" title="Elsayed, L. E. O., Drouet, V., Usenko, T., Mohammed, I. N., Hamed, A. A. A., Elseed, M. A., Salih, M. A. M., Koko, M. E., Mohamed, A. Y. O., Siddig, R. A., Elbashir, M. I., Ibrahim, M. E., Durr, A., Stevanin, G., Lesage, S., Ahmed, A. E., Brice, A. <strong>A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal-recessive juvenile-onset Parkinson's disease. (Letter)</strong> Ann. Neurol. 79: 335-338, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26703368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26703368</a>] [<a href="https://doi.org/10.1002/ana.24591" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26703368">Elsayed et al. (2016)</a> identified a homozygous c.2365C-T transition in exon 16 of the DNAJC6 gene, resulting in a gln789-to-ter (Q789X) substitution. The mutation, which was found by targeted sequencing of a PD panel of genes and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to result in nonsense-mediated mRNA decay and a complete loss of protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26703368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Edvardson, S., Cinnamon, Y., Ta-Shma, A., Shaag, A., Yim, Y.-I., Zenvirt, S., Jalas, C., Lesage, S., Brice, A., Taraboulos, A., Kaestner, K. H., Greene, L. E., Elpeleg, O.
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<strong>A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.</strong>
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PLoS One 7: e36458, 2012. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22563501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22563501</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22563501[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=22563501" 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/10.1371/journal.pone.0036458" target="_blank">Full Text</a>]
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Elsayed, L. E. O., Drouet, V., Usenko, T., Mohammed, I. N., Hamed, A. A. A., Elseed, M. A., Salih, M. A. M., Koko, M. E., Mohamed, A. Y. O., Siddig, R. A., Elbashir, M. I., Ibrahim, M. E., Durr, A., Stevanin, G., Lesage, S., Ahmed, A. E., Brice, A.
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<strong>A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal-recessive juvenile-onset Parkinson's disease. (Letter)</strong>
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Ann. Neurol. 79: 335-338, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26703368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26703368</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26703368" 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/ana.24591" target="_blank">Full Text</a>]
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Fotin, A., Cheng, Y., Grigorieff, N., Walz, T., Harrison, S. C., Kirchhausen, T.
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<strong>Structure of an auxilin-bound clathrin coat and its implications for the mechanism of uncoating.</strong>
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Nature 432: 649-653, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502813</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15502813" 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/10.1038/nature03078" target="_blank">Full Text</a>]
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Ishikawa, K., Nagase, T., Nakajima, D., Seki, N., Ohira, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 4: 307-313, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9455477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9455477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9455477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/4.5.307" target="_blank">Full Text</a>]
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Jesus, S., Gomez-Garre, P., Carrillo, F., Caceres-Redondo, M. T., Huertas-Fernandez, I., Bernal-Bernal, I., Bonilla-Toribio, M., Vargas-Gonzalez, L., Carballo, M., Mir, P.
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<strong>Analysis of c.801-2A-G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain. (Letter)</strong>
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Parkinsonism Relat. Disord. 20: 248-249, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24220513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24220513</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24220513" 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.2013.10.018" target="_blank">Full Text</a>]
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Koroglu, C., Baysal, L., Cetinkaya, M., Karasoy, H., Tolun, A.
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<strong>DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.</strong>
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Parkinsonism Relat. Disord. 19: 320-324, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23211418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23211418</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23211418" 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.2012.11.006" target="_blank">Full Text</a>]
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Ohtsuka, K., Hata, M.
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<strong>Mammalian HSP40/DNAJ homologs: cloning of novel cDNAs and a proposal for their classification and nomenclature.</strong>
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Cell Stress Chaperones 5: 98-112, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11147971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11147971</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11147971[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=11147971" 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/10.1379/1466-1268(2000)005<0098:mhdhco>2.0.co;2" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Olgiati2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Olgiati, S., Quadri, M., Fang, M., Rood, J. P. M. A., Saute, J. A., Chien, H. F., Bouwkamp, C. G., Graafland, J., Minneboo, M., Breedveld, G. J., Zhang, J., The International Parkinsonism Genetics Network, and 10 others.
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<strong>DNAJC6 mutations associated with early-onset Parkinson's disease.</strong>
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Ann. Neurol. 79: 244-256, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26528954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26528954</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26528954" 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/ana.24553" 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="9" class="mim-anchor"></a>
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<a id="Seki1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Seki, N., Ohira, M., Nagase, T., Ishikawa, K., Miyajima, N., Nakajima, D., Nomura, N., Ohara, O.
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<strong>Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.</strong>
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DNA Res. 4: 345-349, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9455484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9455484</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9455484" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/4.5.345" target="_blank">Full Text</a>]
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Yim2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yim, Y.-I., Sun, T., Wu, L.-G., Raimondi, A., De Camilli, P., Eisenberg, E., Greene, L. E.
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<strong>Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice.</strong>
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Proc. Nat. Acad. Sci. 107: 4412-4417, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20160091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20160091</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20160091[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=20160091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.1000738107" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<br />
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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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<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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Cassandra L. Kniffin - updated : 10/12/2016
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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 : 07/28/2016<br>Cassandra L. Kniffin - updated : 11/19/2013<br>Ada Hamosh - updated : 1/19/2005
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</span>
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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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Paul J. Converse : 1/6/2004
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/13/2016
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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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ckniffin : 10/12/2016<br>carol : 08/09/2016<br>ckniffin : 07/28/2016<br>mcolton : 08/12/2014<br>carol : 11/21/2013<br>carol : 11/21/2013<br>mcolton : 11/21/2013<br>ckniffin : 11/19/2013<br>carol : 8/17/2007<br>alopez : 2/2/2005<br>wwang : 1/27/2005<br>terry : 1/19/2005<br>mgross : 1/6/2004
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</span>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 608375
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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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DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 6; DNAJC6
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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DJC6<br />
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AUXILIN, BOVINE, HOMOLOG OF<br />
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KIAA0473
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DNAJC6</em></strong>
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</span>
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</p>
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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: 1p31.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:65,264,749-65,415,871 </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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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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1p31.3
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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 19a, juvenile-onset
|
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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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615528
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
Autosomal recessive
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
|
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
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Parkinson disease 19b, early-onset
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
615528
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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</tbody>
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</table>
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</div>
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</div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The DNAJC6 gene encodes auxilin, a neuronal protein that functions specifically in the pathway of clathrin-mediated endocytosis. It shares homology with the ubiquitously expressed GAK (602052), and both proteins act as cochaperones to support the HSC70 (600816)-dependent clathrin uncoating of clathrin-coated vesicles (summary by Yim et al., 2010). </p><p>DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000). </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">
|
|
<p>By sequencing clones obtained from a size-fractionated brain cDNA library, Seki et al. (1997) cloned DNAJC6, which they designated KIAA0473. The predicted protein contains 913 amino acids and shares 95% amino acid identity with bovine auxilin (Ishikawa et al., 1997). Using RT-PCR, Ishikawa et al. (1997) detected expression of DNAJC6 in all tissues tested, with predominant expression in brain. </p><p>Ohtsuka and Hata (2000) stated that the 910-amino acid bovine auxilin protein, which is homologous to DNAJC6, has a J domain at residues 841 to 910, but it does not have G/F-rich or cys-rich domains. PSORT analysis suggested both a nuclear and cytoplasmic localization. </p><p>Koroglu et al. (2013) found abundant expression of the DNAJC6 gene in various human brain regions, including cerebellum, corpus callosum, cortex, striatum, brainstem, pons, putamen, spinal cord, and substantia nigra. There was very low expression in nonneural tissues, such as leukocytes, liver, adipose tissue, skeletal muscle, and bone marrow. </p>
|
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Fotin et al. (2004) used electron cryomicroscopy to determine the 12-angstrom resolution structures of in vitro-assembled clathrin (see 118955) coats in association with a C-terminal fragment of auxilin that contains both the clathrin-binding region and the J domain. They located the auxilin fragment by computing differences between these structures and those lacking auxilin. Auxilin binds within the clathrin lattice near contacts between inward-projecting C-terminal helical tripod and the crossing of 2 'ankle' segments; it also contacts the terminal domain of yet another clathrin 'leg.' Auxilin therefore recruits HSC70 (600816) to the neighborhood of a set of critical interactions. Auxilin binding produces a local change in heavy-chain contacts, creating a detectable global distortion of the clathrin coat. Fotin et al. (2004) proposed a mechanism by which local destabilization of the lattice promotes general uncoating. </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">
|
|
<p>By radiation hybrid analysis, Ishikawa et al. (1997) mapped the DNAJC6 gene to chromosome 1. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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|
|
<span class="mim-text-font">
|
|
<p>Auxilin is selectively expressed in neurons and is enriched in nerve terminals, where it plays a role in clathrin-mediated endocytosis (summary by Edvardson et al., 2012). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</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>In 2 brothers, born of consanguineous Palestinian parents, with juvenile-onset Parkinson disease-19A (PARK19A; 615528), Edvardson et al. (2012) identified a homozygous loss-of-function mutation in the DNAJC6 gene (608375.0001). The mutation was found by homozygosity mapping combined with whole-exome sequencing. Because the DNAJC6 gene plays a role in clathrin-mediated endocytosis, the findings suggested that a defect in the neuronal endocytic/lysosomal pathway contributes to the pathogenesis of Parkinson disease. Edvardson et al. (2012) noted that other significant genes mutated in Parkinson disease (PD), including SNCA (163890) and LRRK2 (609007), participate in synaptic vesicle recycling, underscoring the role of the endosomal/lysosomal pathway in PD. Mutations in the DNAJC6 gene were not found in 15 additional patients with early-onset Parkinson disease. </p><p>Koroglu et al. (2013) identified a homozygous loss-of-function mutation in the DNAJC6 gene (608375.0002) in affected members of a consanguineous Turkish family with severe juvenile-onset PARK19A and mental retardation. The mutation was found by homozygosity mapping and whole-exome sequencing. </p><p>In affected members of 2 unrelated families with early-onset PARK19B (see 615528), Olgiati et al. (2016) identified 2 different homozygous mutations in the DNAJC6 gene: a missense mutation (R927G; 608375.0003) and a putative splice site mutation (c.2223A-T; 608375.0004). Patient fibroblasts from both families showed significantly decreased, but detectable, levels of DNAJC6 compared to controls, suggesting a loss of function effect. The patients had onset of symptoms between the third and fifth decades of life, features of classic PD, slow disease progression, and good response to dopaminergic medication. Olgiati et al. (2016) noted that the phenotype in these patients was not as severe as that observed in patients with truncating mutations, suggesting that some residual activity may mitigate the phenotype. The families accounted for 2 (2.2%) of 92 probands with autosomal recessive PD who underwent sequencing of the DNAJC6 gene. </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>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Yim et al. (2010) found that Dnajc6-null mice had a high rate of early postnatal mortality, although surviving pups had a normal life span despite decreased body weight. Knockout mice had impaired synaptic vesicle recycling, with an increased number of clathrin-coated vesicles, and impaired clathrin-mediated endocytosis of synaptic vesicles in neuronal culture. There was an upregulation of Gak, but this did not fully compensate for the lack of Dnajc6. </p><p>In brains of Dnajc6-null mice, Edvardson et al. (2012) did not find alteration in substantia nigra morphology or dopamine transporter abundance or distribution, in agreement with the lack of gait or movement abnormalities in the mutant mice. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 PARKINSON DISEASE 19A, JUVENILE-ONSET</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DNAJC6, IVS6AS, A-G, -2
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<br />
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SNP: rs398122404,
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ClinVar: RCV000074442, RCV001030777
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 brothers, born of consanguineous Arab-Muslim parents of Palestinian origin, with juvenile-onset Parkinson disease-19A (PARK19A; 615528), Edvardson et al. (2012) identified a homozygous c.801-2A-G transition in intron 6 of the DNAJC6 gene. Analysis of patient cells showed that the mutation resulted in the generation of 2 misspliced transcripts: an in-frame exon 7-skipped transcript lacking residues 268-328, and an out-of-frame transcript with an insertion of the last 91 nucleotides of intron 6, resulting in the addition of 8 residues before a termination codon. The normally spliced transcript was undetectable, and the mutant transcripts were unstable, consistent with a loss of function. The mutation was found by homozygosity mapping combined with whole-exome sequencing. The mutation was confirmed by Sanger sequencing and segregated with the disorder in the family. It was not found in the 1000 Genomes Project or Exome Sequencing Project databases, or in 208 ethnically matched controls. Heterozygous family members had no neurologic deficits. </p><p>Jesus et al. (2014) did not find the c.801-2A-G mutation in 356 patients with Parkinson disease from southern Spain, including 21 patients with juvenile-onset PD (before age 35 years) and 36 patients with early-onset PD (between 35 and 45 years). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 PARKINSON DISEASE 19A, JUVENILE-ONSET</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DNAJC6, GLN734TER
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<br />
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SNP: rs398122405,
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ClinVar: RCV000074443
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 4 affected individuals from a large, highly consanguineous Turkish family with juvenile-onset Parkinson disease-19A (PARK19A; 615528) and mental retardation, Koroglu et al. (2013) identified a homozygous c.2200C-T transition in exon 16 of the DNAJC6 gene, resulting in a gln734-to-ter (Q734X) substitution, truncation of the protein by about 20%, and a null allele. The mutation was found by homozygosity mapping combined with whole-exome sequencing. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 PARKINSON DISEASE 19B, EARLY-ONSET</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DNAJC6, ARG927GLY
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<br />
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SNP: rs879255630,
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ClinVar: RCV000239521, RCV001420731
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sibs, born of Dutch parents (family GPS-0313), with Parkinson disease-19B (PARK19B; see 615528), Olgiati et al. (2016) identified a homozygous c.2779A-G transition (c.2779A-G, NM_001256864.1) in the DNAJC6 gene, resulting in an arg927-to-gly (R927G) substitution at a highly conserved residue in the J domain, which is a known crucial functional domain. The mutation, which was found by Sanger sequencing of the DNAJC6 gene, linkage analysis, and exome sequencing, segregated with the disorder in the family and was not found in the dbSNP (build 141), 1000 Genomes Project, Exome Variant Server (ESP6500S1-V2), or ExAC databases. The patients developed Parkinson disease in the third decade of life. Patient fibroblasts showed significantly decreased, but detectable, levels of DNAJC6 compared to controls, suggesting a loss-of-function effect. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 PARKINSON DISEASE 19B, EARLY-ONSET</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DNAJC6, 2223A-T
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<br />
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SNP: rs879255554,
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ClinVar: RCV000239573, RCV001420733
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 sibs, born of parents (family PAL-50) from southern Brazil, with Parkinson disease-19B (PARK19B; see 615528), Olgiati et al. (2016) identified a homozygous A-to-T transversion in the DNAJC6 gene located 5 bases before the end of exon 15 (c.2223A-T, NM_001256864.1) and predicted to result in a splicing defect. The mutation, which was found by Sanger sequencing of the DNAJC6 gene, linkage analysis, and exome sequencing, segregated with the disorder in the family and was not found in the dbSNP (build 141), 1000 Genomes Project, Exome Variant Server (ESP6500S1-V2), or ExAC databases. If translated, the mutation would result in a synonymous change, thr741-to-thr (T741T). Both patients also carried a heterozygous missense variant (L363P) in the GBA gene (606463), variants in which are known to be risk factors for Parkinson disease. The patients developed Parkinson disease at 42 and 31 years of age. Patient fibroblasts showed significantly decreased, but detectable, levels of DNAJC6 compared to controls, suggesting a loss-of-function effect. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 PARKINSON DISEASE 19A, JUVENILE-ONSET</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
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|
|
DNAJC6, GLN789TER
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|
|
|
|
<br />
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|
|
|
SNP: rs886039854,
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|
|
|
|
|
|
|
ClinVar: RCV000256354
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl, born of consanguineous parents of Yemeni origin, with onset of Parkinson disease-19A (PARK19A; 615528) at age 10.5 years, Elsayed et al. (2016) identified a homozygous c.2365C-T transition in exon 16 of the DNAJC6 gene, resulting in a gln789-to-ter (Q789X) substitution. The mutation, which was found by targeted sequencing of a PD panel of genes and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to result in nonsense-mediated mRNA decay and a complete loss of protein function. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
|
<ol>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Edvardson, S., Cinnamon, Y., Ta-Shma, A., Shaag, A., Yim, Y.-I., Zenvirt, S., Jalas, C., Lesage, S., Brice, A., Taraboulos, A., Kaestner, K. H., Greene, L. E., Elpeleg, O.
|
|
<strong>A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.</strong>
|
|
PLoS One 7: e36458, 2012. Note: Electronic Article.
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|
[PubMed: 22563501]
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[Full Text: https://doi.org/10.1371/journal.pone.0036458]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Elsayed, L. E. O., Drouet, V., Usenko, T., Mohammed, I. N., Hamed, A. A. A., Elseed, M. A., Salih, M. A. M., Koko, M. E., Mohamed, A. Y. O., Siddig, R. A., Elbashir, M. I., Ibrahim, M. E., Durr, A., Stevanin, G., Lesage, S., Ahmed, A. E., Brice, A.
|
|
<strong>A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal-recessive juvenile-onset Parkinson's disease. (Letter)</strong>
|
|
Ann. Neurol. 79: 335-338, 2016.
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[PubMed: 26703368]
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[Full Text: https://doi.org/10.1002/ana.24591]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Fotin, A., Cheng, Y., Grigorieff, N., Walz, T., Harrison, S. C., Kirchhausen, T.
|
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<strong>Structure of an auxilin-bound clathrin coat and its implications for the mechanism of uncoating.</strong>
|
|
Nature 432: 649-653, 2004.
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[PubMed: 15502813]
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[Full Text: https://doi.org/10.1038/nature03078]
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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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Ishikawa, K., Nagase, T., Nakajima, D., Seki, N., Ohira, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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|
<strong>Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 4: 307-313, 1997.
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[PubMed: 9455477]
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[Full Text: https://doi.org/10.1093/dnares/4.5.307]
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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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Jesus, S., Gomez-Garre, P., Carrillo, F., Caceres-Redondo, M. T., Huertas-Fernandez, I., Bernal-Bernal, I., Bonilla-Toribio, M., Vargas-Gonzalez, L., Carballo, M., Mir, P.
|
|
<strong>Analysis of c.801-2A-G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain. (Letter)</strong>
|
|
Parkinsonism Relat. Disord. 20: 248-249, 2014.
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[PubMed: 24220513]
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[Full Text: https://doi.org/10.1016/j.parkreldis.2013.10.018]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Koroglu, C., Baysal, L., Cetinkaya, M., Karasoy, H., Tolun, A.
|
|
<strong>DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.</strong>
|
|
Parkinsonism Relat. Disord. 19: 320-324, 2013.
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[PubMed: 23211418]
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[Full Text: https://doi.org/10.1016/j.parkreldis.2012.11.006]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ohtsuka, K., Hata, M.
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<strong>Mammalian HSP40/DNAJ homologs: cloning of novel cDNAs and a proposal for their classification and nomenclature.</strong>
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|
Cell Stress Chaperones 5: 98-112, 2000.
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[PubMed: 11147971]
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[Full Text: https://doi.org/10.1379/1466-1268(2000)005<0098:mhdhco>2.0.co;2]
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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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Olgiati, S., Quadri, M., Fang, M., Rood, J. P. M. A., Saute, J. A., Chien, H. F., Bouwkamp, C. G., Graafland, J., Minneboo, M., Breedveld, G. J., Zhang, J., The International Parkinsonism Genetics Network, and 10 others.
|
|
<strong>DNAJC6 mutations associated with early-onset Parkinson's disease.</strong>
|
|
Ann. Neurol. 79: 244-256, 2016.
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[PubMed: 26528954]
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[Full Text: https://doi.org/10.1002/ana.24553]
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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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Seki, N., Ohira, M., Nagase, T., Ishikawa, K., Miyajima, N., Nakajima, D., Nomura, N., Ohara, O.
|
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<strong>Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.</strong>
|
|
DNA Res. 4: 345-349, 1997.
|
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|
|
[PubMed: 9455484]
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[Full Text: https://doi.org/10.1093/dnares/4.5.345]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Yim, Y.-I., Sun, T., Wu, L.-G., Raimondi, A., De Camilli, P., Eisenberg, E., Greene, L. E.
|
|
<strong>Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice.</strong>
|
|
Proc. Nat. Acad. Sci. 107: 4412-4417, 2010.
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|
|
[PubMed: 20160091]
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[Full Text: https://doi.org/10.1073/pnas.1000738107]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
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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">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 10/12/2016<br>Cassandra L. Kniffin - updated : 07/28/2016<br>Cassandra L. Kniffin - updated : 11/19/2013<br>Ada Hamosh - updated : 1/19/2005
|
|
</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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<br />
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</div>
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<div>
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<div class="row">
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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">
|
|
Creation Date:
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Paul J. Converse : 1/6/2004
|
|
</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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<br />
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</div>
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<div>
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