2698 lines
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Entry
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- *607492 - PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1; PACS1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*607492</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607492">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 class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000175115;t=ENST00000320580" 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=55690" 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=607492" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<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=ENSG00000175115;t=ENST00000320580" 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_018026,XM_011545162,XM_011545164" 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_018026" 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=607492" 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=06320&isoform_id=06320_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/PACS1" 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/6330231,6807707,7022111,16551745,21756182,30089916,30962846,33243995,34420885,46255671,46255673,46255819,52000804,119594908,119594909,119594910,119594911,119594912,194375988,767968510,2217283731,2462526357,2462526359" 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/Q6VY07" 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=55690" 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=ENSG00000175115;t=ENST00000320580" 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=PACS1" 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=PACS1" 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+55690" 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/PACS1" 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:55690" 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/55690" 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=chr11&hgg_gene=ENST00000320580.9&hgg_start=66070272&hgg_end=66244744&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30032" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:30032" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/pacs1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607492[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=607492[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/PACS1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000175115" 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=PACS1" 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=PACS1" 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=PACS1" 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=PACS1&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/PA134989529" 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:30032" 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/FBgn0020647.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:1277113" 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/PACS1#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:1277113" 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/55690/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=55690" 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=WBGene00044077;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-050208-244" 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://reactome.org/content/query?q=PACS1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 773581009<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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607492
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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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PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1; PACS1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<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=PACS1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PACS1</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/11/624?start=-3&limit=10&highlight=624">11q13.1-q13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:66070272-66244744&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'})">11:66,070,272-66,244,744</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/11/624?start=-3&limit=10&highlight=624">
|
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11q13.1-q13.2
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Schuurs-Hoeijmakers syndrome
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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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<a href="/entry/615009"> 615009 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/607492" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/607492" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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<p>PACS1 is a trans-Golgi-membrane traffic regulator that directs protein cargo and several viral envelope proteins. It is upregulated during human embryonic brain development and has low expression after birth (summary by <a href="#7" class="mim-tip-reference" title="Schuurs-Hoeijmakers, J. H. M., Oh, E. C., Vissers, L. E. L. M., Swinkels, M. E. M., Gilissen, C., Willemsen, M. A., Holvoet, M., Steehouwer, M., Veltman, J. A., de Vries, B. B. A., van Bokhoven, H., de Brouwer, A. P. M., Katsanis, N., Devriendt, K., Brunner, H. G. <strong>Recurrent de novo mutations in PACS1 cause defective cranial neural-crest migration and define a recognizable intellectual-disability syndrome.</strong> Am. J. Hum. Genet. 91: 1122-1127, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23159249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23159249</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23159249[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23159249">Schuurs-Hoeijmakers et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23159249" 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 yeast 2-hybrid screening of a mouse embryo cDNA library to identify cytosolic proteins that bind directly to the phosphorylated furin (<a href="/entry/136950">136950</a>) cytosolic domain, <a href="#9" class="mim-tip-reference" title="Wan, L., Molloy, S. S., Thomas, L., Liu, G., Xiang, Y., Rybak, S. L., Thomas, G. <strong>PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization.</strong> Cell 94: 205-216, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9695949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9695949</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81420-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9695949">Wan et al. (1998)</a> identified cDNAs encoding Pacs1. Screening of a rat brain cDNA library with the Pacs1 sequences yielded 2 cDNAs representing splice variants. The larger variant, Pacs1a, has 961 amino acids, and the smaller variant, Pacs1b, has 559 amino acids. Both proteins contain the 140-amino acid furin-binding region (val115 to pro255). Northern blot analysis using transcript-specific probes showed that both Pacs1 variants were expressed ubiquitously, with the 4.4-kb Pacs1a transcript expressed more than 20-fold higher than the 3.6-kb Pacs1b transcript. <a href="#9" class="mim-tip-reference" title="Wan, L., Molloy, S. S., Thomas, L., Liu, G., Xiang, Y., Rybak, S. L., Thomas, G. <strong>PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization.</strong> Cell 94: 205-216, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9695949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9695949</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81420-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9695949">Wan et al. (1998)</a> also identified human ESTs containing PACS1 sequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9695949" 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="#9" class="mim-tip-reference" title="Wan, L., Molloy, S. S., Thomas, L., Liu, G., Xiang, Y., Rybak, S. L., Thomas, G. <strong>PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization.</strong> Cell 94: 205-216, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9695949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9695949</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81420-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9695949">Wan et al. (1998)</a> reported that Pacs1 directs the trans-Golgi network (TGN) localization of furin by binding to its phosphorylated cytosolic domain. Antisense studies showed that TGN localization of furin and mannose 6-phosphate receptor (M6PR; <a href="/entry/154540">154540</a>), but not TGN46 (<a href="/entry/603062">603062</a>), is strictly dependent on Pacs1. Analyses in vitro and in vivo showed that Pacs1 has properties of a coat protein and connects furin to components of the clathrin-sorting machinery. Cell-free assays indicated TGN localization of furin is directed by a Pacs1-mediated retrieval step. Together, these findings explained a mechanism by which membrane proteins in mammalian cells are localized to the TGN. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9695949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Blagoveshchenskaya, A. D., Thomas, L., Feliciangeli, S. F., Hung, C.-H., Thomas, G. <strong>HIV-1 Nef downregulates MHC-I by a PACS-1- and PI3K-regulated ARF6 endocytic pathway.</strong> Cell 111: 853-866, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12526811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12526811</a>] [<a href="https://doi.org/10.1016/s0092-8674(02)01162-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12526811">Blagoveshchenskaya et al. (2002)</a> showed that the human immunodeficiency virus (HIV)-1 multifunctional early gene product Nef and cellular PACS1 combine to usurp the ARF6 (<a href="/entry/600464">600464</a>) endocytic pathway by a phosphatidylinositol 3-kinase (PI3K; see <a href="/entry/171833">171833</a>)-dependent process and downregulate cell surface major histocompatibility complex (MHC) class I molecules to the TGN. They found that this mechanism requires the hierarchical actions of 3 Nef motifs, the acidic cluster glu62-glu63-glu64-glu65, the SH3 domain-binding site pro72-X-X-pro75, and met20, in controlling PACS1-dependent sorting to the TGN, ARF6 activation, and sequestering internalized MHC class I molecules to the TGN, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12526811" 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>Polycystin-2 (PKD2; <a href="/entry/173910">173910</a>) functions as a calcium-permeable nonselective cation channel at the plasma membrane or ER. <a href="#4" class="mim-tip-reference" title="Kottgen, M., Benzing, T., Simmen, T., Tauber, R., Buchholz, B., Feliciangeli, S., Huber, T. B., Schermer, B., Kramer-Zucker, A., Hopker, K., Simmen, K. C., Tschucke, C. C., Sandford, R., Kim, E., Thomas, G., Walz, G. <strong>Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation.</strong> EMBO J. 24: 705-716, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15692563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15692563</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15692563[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/sj.emboj.7600566" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15692563">Kottgen et al. (2005)</a> found that the subcellular localization and function of polycystin-2 were directed by PACS1 and PACS2 (<a href="/entry/610423">610423</a>), which recognized an acidic cluster in the C-terminal domain of polycystin-2. Binding to these adaptor proteins was regulated by the phosphorylation of polycystin-2 on ser812 by casein kinase-2 (see CSNK2A1; <a href="/entry/115440">115440</a>), required for the routing of polycystin-2 between ER, Golgi, and the plasma membrane compartments. <a href="#4" class="mim-tip-reference" title="Kottgen, M., Benzing, T., Simmen, T., Tauber, R., Buchholz, B., Feliciangeli, S., Huber, T. B., Schermer, B., Kramer-Zucker, A., Hopker, K., Simmen, K. C., Tschucke, C. C., Sandford, R., Kim, E., Thomas, G., Walz, G. <strong>Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation.</strong> EMBO J. 24: 705-716, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15692563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15692563</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15692563[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/sj.emboj.7600566" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15692563">Kottgen et al. (2005)</a> concluded that PACS1 and PACS2 are involved in ion channel trafficking, directing acid cluster-containing ion channels to distinct subcellular compartments. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15692563" 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 and genomic database analysis, <a href="#8" class="mim-tip-reference" title="Simmen, T., Aslan, J. E., Blagoveshchenskaya, A. D., Thomas, L., Wan, L., Xiang, Y., Feliciangeli, S. F., Hung, C.-H., Crump, C. M., Thomas, G. <strong>PACS-2 controls endoplasmic reticulum-mitochondria communication and Bid-mediated apoptosis.</strong> EMBO J. 24: 717-729, 2005. Note: Erratum: EMBO J. 24: 1301 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15692567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15692567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15692567[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/sj.emboj.7600559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15692567">Simmen et al. (2005)</a> mapped the PACS1 gene to chromosome 11q13.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15692567" 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 unrelated boys with mental retardation and a strikingly similar facial appearance (SHMS; <a href="/entry/615009">615009</a>), <a href="#7" class="mim-tip-reference" title="Schuurs-Hoeijmakers, J. H. M., Oh, E. C., Vissers, L. E. L. M., Swinkels, M. E. M., Gilissen, C., Willemsen, M. A., Holvoet, M., Steehouwer, M., Veltman, J. A., de Vries, B. B. A., van Bokhoven, H., de Brouwer, A. P. M., Katsanis, N., Devriendt, K., Brunner, H. G. <strong>Recurrent de novo mutations in PACS1 cause defective cranial neural-crest migration and define a recognizable intellectual-disability syndrome.</strong> Am. J. Hum. Genet. 91: 1122-1127, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23159249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23159249</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23159249[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23159249">Schuurs-Hoeijmakers et al. (2012)</a> identified a recurrent de novo mutation in the PACS1 gene, resulting in a missense mutation (R203W; <a href="#0001">607492.0001</a>) in the furin (cargo) binding region directly adjacent to the CK2 binding motif. <a href="#7" class="mim-tip-reference" title="Schuurs-Hoeijmakers, J. H. M., Oh, E. C., Vissers, L. E. L. M., Swinkels, M. E. M., Gilissen, C., Willemsen, M. A., Holvoet, M., Steehouwer, M., Veltman, J. A., de Vries, B. B. A., van Bokhoven, H., de Brouwer, A. P. M., Katsanis, N., Devriendt, K., Brunner, H. G. <strong>Recurrent de novo mutations in PACS1 cause defective cranial neural-crest migration and define a recognizable intellectual-disability syndrome.</strong> Am. J. Hum. Genet. 91: 1122-1127, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23159249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23159249</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23159249[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23159249">Schuurs-Hoeijmakers et al. (2012)</a> found that altered PACS1 forms cytoplasmic aggregates in vitro with concomitant increased stability and showed impaired binding to an isoform-specific variant of TRPV4 (<a href="/entry/605427">605427</a>), but not the full-length protein. Furthermore, consistent with the human pathology, expression of mutant PACS1 mRNA in zebrafish embryos induced craniofacial defects most likely in a dominant-negative fashion. The phenotype was driven by aberrant specification and migration of SOX10 (<a href="/entry/602229">602229</a>)-positive cranial, but not enteric, neural crest cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23159249" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-year-old boy with SHMS, <a href="#2" class="mim-tip-reference" title="Gadzicki, D., Docker, D., Schubach, M., Menzel, M., Schmorl, B., Stellmer, F., Biskup, S., Bartholdi, D. <strong>Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. (Letter)</strong> Clin. Genet. 88: 300-302, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25522177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25522177</a>] [<a href="https://doi.org/10.1111/cge.12544" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25522177">Gadzicki et al. (2015)</a> identified the same de novo heterozygous c.607C-T transition in exon 4 of the PACS1 gene. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25522177" 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="Schuurs-Hoeijmakers, J. H. M., Landsverk, M. L., Foulds, N., Kukolich, M. K., Gavrilova, R. H., Greville-Heygate, S., Hanson-Kahn, A., Bernstein, J. A., Glass, J., Chitayat, D., Burrow, T. A., Husami, A., and 27 others. <strong>Clinical delineation of the PACS1-related syndrome--report on 19 patients.</strong> Am. J. Med. Genet. 170A: 670-675, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26842493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26842493</a>] [<a href="https://doi.org/10.1002/ajmg.a.37476" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26842493">Schuurs-Hoeijmakers et al. (2016)</a> reported 16 additional patients with SHMS resulting from the recurrent de novo heterozygous R203W mutation in the PACS1 gene. All of the patients were diagnosed by exome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26842493" 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="Martinez-Monseny, A., Bolasell, M., Arjona, C., Martorell, L., Yubero, D., Armstrong, J., Maynou, J., Fernandez, G., del Carmen Salgado, M., Palau, F., Serrano, M. <strong>Mutation of PACS1: the milder end of the spectrum.</strong> Clin. Dysmorph. 27: 148-150, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30113927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30113927</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30113927">Martinez-Monseny et al. (2018)</a> identified de novo heterozygosity for the R203W mutation in the PACS1 gene in a 12-year-old girl with SHMS. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30113927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By whole-exome sequencing in 2 Japanese children with SHMS, <a href="#3" class="mim-tip-reference" title="Hoshino, Y., Enokizono, T., Imagawa, K., Tanaka, R., Suzuki, H., Fukushima, H., Arai, J., Sumazaki, R., Uehara, T., Takenouchi, T., Kosaki, K. <strong>Schuurs-Hoeijmakers syndrome in two patients from Japan.</strong> Am. J. Med. Genet. 179A: 341-343, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30588754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30588754</a>] [<a href="https://doi.org/10.1002/ajmg.a.9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30588754">Hoshino et al. (2019)</a> identified the recurrent de novo heterozygous R203W mutation in the PACS1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30588754" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607492[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs398123009 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398123009;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs398123009?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs398123009" 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=rs398123009" 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=RCV000032781 OR RCV000210719 OR RCV000429725 OR RCV001095741 OR RCV001255394 OR RCV001310258 OR RCV001375021 OR RCV002251940 OR RCV003398585 OR RCV005055348" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032781, RCV000210719, RCV000429725, RCV001095741, RCV001255394, RCV001310258, RCV001375021, RCV002251940, RCV003398585, RCV005055348" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032781...</a>
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<p>In 2 unrelated boys with mental retardation and a strikingly similar facial appearance (SHMS; <a href="/entry/615009">615009</a>), <a href="#7" class="mim-tip-reference" title="Schuurs-Hoeijmakers, J. H. M., Oh, E. C., Vissers, L. E. L. M., Swinkels, M. E. M., Gilissen, C., Willemsen, M. A., Holvoet, M., Steehouwer, M., Veltman, J. A., de Vries, B. B. A., van Bokhoven, H., de Brouwer, A. P. M., Katsanis, N., Devriendt, K., Brunner, H. G. <strong>Recurrent de novo mutations in PACS1 cause defective cranial neural-crest migration and define a recognizable intellectual-disability syndrome.</strong> Am. J. Hum. Genet. 91: 1122-1127, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23159249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23159249</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23159249[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23159249">Schuurs-Hoeijmakers et al. (2012)</a> identified the same de novo heterozygous mutation in the PACS1 gene: a 607C-T transition resulting in an arg203-to-trp (R203W) substitution. The mutation was not identified in 150 alleles from the Dutch population, in 2,304 alleles from the local variant database, or in 7,020 alleles of European American origin from the NHLBI Exome Sequencing Project database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23159249" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-year-old boy with SHMS, <a href="#2" class="mim-tip-reference" title="Gadzicki, D., Docker, D., Schubach, M., Menzel, M., Schmorl, B., Stellmer, F., Biskup, S., Bartholdi, D. <strong>Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. (Letter)</strong> Clin. Genet. 88: 300-302, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25522177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25522177</a>] [<a href="https://doi.org/10.1111/cge.12544" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25522177">Gadzicki et al. (2015)</a> identified the same de novo heterozygous c.607C-T transition in exon 4 of the PACS1 gene. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25522177" 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="Schuurs-Hoeijmakers, J. H. M., Landsverk, M. L., Foulds, N., Kukolich, M. K., Gavrilova, R. H., Greville-Heygate, S., Hanson-Kahn, A., Bernstein, J. A., Glass, J., Chitayat, D., Burrow, T. A., Husami, A., and 27 others. <strong>Clinical delineation of the PACS1-related syndrome--report on 19 patients.</strong> Am. J. Med. Genet. 170A: 670-675, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26842493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26842493</a>] [<a href="https://doi.org/10.1002/ajmg.a.37476" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26842493">Schuurs-Hoeijmakers et al. (2016)</a> reported 16 additional patients with SHMS resulting from the recurrent de novo heterozygous R203W mutation in the PACS1 gene. All of the patients were diagnosed by exome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26842493" 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="Martinez-Monseny, A., Bolasell, M., Arjona, C., Martorell, L., Yubero, D., Armstrong, J., Maynou, J., Fernandez, G., del Carmen Salgado, M., Palau, F., Serrano, M. <strong>Mutation of PACS1: the milder end of the spectrum.</strong> Clin. Dysmorph. 27: 148-150, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30113927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30113927</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30113927">Martinez-Monseny et al. (2018)</a> identified de novo heterozygosity for the R203W mutation in the PACS1 gene in a 12-year-old girl with SHMS. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30113927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By whole-exome sequencing in 2 Japanese children with SHMS, <a href="#3" class="mim-tip-reference" title="Hoshino, Y., Enokizono, T., Imagawa, K., Tanaka, R., Suzuki, H., Fukushima, H., Arai, J., Sumazaki, R., Uehara, T., Takenouchi, T., Kosaki, K. <strong>Schuurs-Hoeijmakers syndrome in two patients from Japan.</strong> Am. J. Med. Genet. 179A: 341-343, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30588754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30588754</a>] [<a href="https://doi.org/10.1002/ajmg.a.9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30588754">Hoshino et al. (2019)</a> identified the recurrent de novo heterozygous R203W mutation in the PACS1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30588754" 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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Blagoveshchenskaya, A. D., Thomas, L., Feliciangeli, S. F., Hung, C.-H., Thomas, G.
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<strong>HIV-1 Nef downregulates MHC-I by a PACS-1- and PI3K-regulated ARF6 endocytic pathway.</strong>
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Cell 111: 853-866, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12526811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12526811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12526811" 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/s0092-8674(02)01162-5" target="_blank">Full Text</a>]
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Gadzicki, D., Docker, D., Schubach, M., Menzel, M., Schmorl, B., Stellmer, F., Biskup, S., Bartholdi, D.
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<strong>Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. (Letter)</strong>
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Clin. Genet. 88: 300-302, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25522177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25522177</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25522177" 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/10.1111/cge.12544" target="_blank">Full Text</a>]
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Hoshino, Y., Enokizono, T., Imagawa, K., Tanaka, R., Suzuki, H., Fukushima, H., Arai, J., Sumazaki, R., Uehara, T., Takenouchi, T., Kosaki, K.
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<strong>Schuurs-Hoeijmakers syndrome in two patients from Japan.</strong>
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Am. J. Med. Genet. 179A: 341-343, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30588754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30588754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30588754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.9" target="_blank">Full Text</a>]
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Kottgen, M., Benzing, T., Simmen, T., Tauber, R., Buchholz, B., Feliciangeli, S., Huber, T. B., Schermer, B., Kramer-Zucker, A., Hopker, K., Simmen, K. C., Tschucke, C. C., Sandford, R., Kim, E., Thomas, G., Walz, G.
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<strong>Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation.</strong>
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EMBO J. 24: 705-716, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15692563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15692563</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15692563[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=15692563" 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/sj.emboj.7600566" target="_blank">Full Text</a>]
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Martinez-Monseny, A., Bolasell, M., Arjona, C., Martorell, L., Yubero, D., Armstrong, J., Maynou, J., Fernandez, G., del Carmen Salgado, M., Palau, F., Serrano, M.
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<strong>Mutation of PACS1: the milder end of the spectrum.</strong>
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Clin. Dysmorph. 27: 148-150, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30113927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30113927</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30113927" 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/10.1097/MCD.0000000000000237" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Schuurs-Hoeijmakers2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schuurs-Hoeijmakers, J. H. M., Landsverk, M. L., Foulds, N., Kukolich, M. K., Gavrilova, R. H., Greville-Heygate, S., Hanson-Kahn, A., Bernstein, J. A., Glass, J., Chitayat, D., Burrow, T. A., Husami, A., and 27 others.
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<strong>Clinical delineation of the PACS1-related syndrome--report on 19 patients.</strong>
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Am. J. Med. Genet. 170A: 670-675, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26842493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26842493</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26842493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.37476" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Schuurs-Hoeijmakers2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schuurs-Hoeijmakers, J. H. M., Oh, E. C., Vissers, L. E. L. M., Swinkels, M. E. M., Gilissen, C., Willemsen, M. A., Holvoet, M., Steehouwer, M., Veltman, J. A., de Vries, B. B. A., van Bokhoven, H., de Brouwer, A. P. M., Katsanis, N., Devriendt, K., Brunner, H. G.
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<strong>Recurrent de novo mutations in PACS1 cause defective cranial neural-crest migration and define a recognizable intellectual-disability syndrome.</strong>
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Am. J. Hum. Genet. 91: 1122-1127, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23159249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23159249</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23159249[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=23159249" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2012.10.013" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Simmen2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Simmen, T., Aslan, J. E., Blagoveshchenskaya, A. D., Thomas, L., Wan, L., Xiang, Y., Feliciangeli, S. F., Hung, C.-H., Crump, C. M., Thomas, G.
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<strong>PACS-2 controls endoplasmic reticulum-mitochondria communication and Bid-mediated apoptosis.</strong>
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EMBO J. 24: 717-729, 2005. Note: Erratum: EMBO J. 24: 1301 only, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15692567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15692567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15692567[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=15692567" 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/sj.emboj.7600559" 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="Wan1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wan, L., Molloy, S. S., Thomas, L., Liu, G., Xiang, Y., Rybak, S. L., Thomas, G.
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<strong>PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization.</strong>
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Cell 94: 205-216, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9695949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9695949</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9695949" 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/s0092-8674(00)81420-8" target="_blank">Full Text</a>]
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</p>
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</ol>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Sonja A. Rasmussen - updated : 11/04/2021
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</span>
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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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Sonja A. Rasmussen - updated : 01/10/2019<br>Cassandra L. Kniffin - updated : 08/01/2016<br>Ada Hamosh - updated : 1/8/2013<br>Patricia A. Hartz - updated : 9/22/2006
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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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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Stylianos E. Antonarakis : 1/17/2003
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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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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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/04/2021
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 06/23/2020<br>carol : 01/10/2019<br>carol : 05/18/2017<br>carol : 08/01/2016<br>ckniffin : 08/01/2016<br>carol : 07/29/2016<br>terry : 03/14/2013<br>alopez : 1/9/2013<br>terry : 1/8/2013<br>wwang : 9/22/2006<br>mgross : 1/17/2003<br>mgross : 1/17/2003
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 607492
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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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PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1; PACS1
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</h3>
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</div>
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<br />
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PACS1</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 773581009;
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</span>
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<strong>
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<em>
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Cytogenetic location: 11q13.1-q13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:66,070,272-66,244,744 </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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<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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Location
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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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<td rowspan="1">
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<span class="mim-font">
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11q13.1-q13.2
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<td>
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<span class="mim-font">
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Schuurs-Hoeijmakers syndrome
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</td>
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<td>
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<span class="mim-font">
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615009
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</div>
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<span class="mim-text-font">
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<p>PACS1 is a trans-Golgi-membrane traffic regulator that directs protein cargo and several viral envelope proteins. It is upregulated during human embryonic brain development and has low expression after birth (summary by Schuurs-Hoeijmakers et al., 2012). </p>
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<div>
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<br />
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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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<span class="mim-text-font">
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<p>By yeast 2-hybrid screening of a mouse embryo cDNA library to identify cytosolic proteins that bind directly to the phosphorylated furin (136950) cytosolic domain, Wan et al. (1998) identified cDNAs encoding Pacs1. Screening of a rat brain cDNA library with the Pacs1 sequences yielded 2 cDNAs representing splice variants. The larger variant, Pacs1a, has 961 amino acids, and the smaller variant, Pacs1b, has 559 amino acids. Both proteins contain the 140-amino acid furin-binding region (val115 to pro255). Northern blot analysis using transcript-specific probes showed that both Pacs1 variants were expressed ubiquitously, with the 4.4-kb Pacs1a transcript expressed more than 20-fold higher than the 3.6-kb Pacs1b transcript. Wan et al. (1998) also identified human ESTs containing PACS1 sequences. </p>
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wan et al. (1998) reported that Pacs1 directs the trans-Golgi network (TGN) localization of furin by binding to its phosphorylated cytosolic domain. Antisense studies showed that TGN localization of furin and mannose 6-phosphate receptor (M6PR; 154540), but not TGN46 (603062), is strictly dependent on Pacs1. Analyses in vitro and in vivo showed that Pacs1 has properties of a coat protein and connects furin to components of the clathrin-sorting machinery. Cell-free assays indicated TGN localization of furin is directed by a Pacs1-mediated retrieval step. Together, these findings explained a mechanism by which membrane proteins in mammalian cells are localized to the TGN. </p><p>Blagoveshchenskaya et al. (2002) showed that the human immunodeficiency virus (HIV)-1 multifunctional early gene product Nef and cellular PACS1 combine to usurp the ARF6 (600464) endocytic pathway by a phosphatidylinositol 3-kinase (PI3K; see 171833)-dependent process and downregulate cell surface major histocompatibility complex (MHC) class I molecules to the TGN. They found that this mechanism requires the hierarchical actions of 3 Nef motifs, the acidic cluster glu62-glu63-glu64-glu65, the SH3 domain-binding site pro72-X-X-pro75, and met20, in controlling PACS1-dependent sorting to the TGN, ARF6 activation, and sequestering internalized MHC class I molecules to the TGN, respectively. </p><p>Polycystin-2 (PKD2; 173910) functions as a calcium-permeable nonselective cation channel at the plasma membrane or ER. Kottgen et al. (2005) found that the subcellular localization and function of polycystin-2 were directed by PACS1 and PACS2 (610423), which recognized an acidic cluster in the C-terminal domain of polycystin-2. Binding to these adaptor proteins was regulated by the phosphorylation of polycystin-2 on ser812 by casein kinase-2 (see CSNK2A1; 115440), required for the routing of polycystin-2 between ER, Golgi, and the plasma membrane compartments. Kottgen et al. (2005) concluded that PACS1 and PACS2 are involved in ion channel trafficking, directing acid cluster-containing ion channels to distinct subcellular compartments. </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>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By radiation hybrid and genomic database analysis, Simmen et al. (2005) mapped the PACS1 gene to chromosome 11q13.1. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 2 unrelated boys with mental retardation and a strikingly similar facial appearance (SHMS; 615009), Schuurs-Hoeijmakers et al. (2012) identified a recurrent de novo mutation in the PACS1 gene, resulting in a missense mutation (R203W; 607492.0001) in the furin (cargo) binding region directly adjacent to the CK2 binding motif. Schuurs-Hoeijmakers et al. (2012) found that altered PACS1 forms cytoplasmic aggregates in vitro with concomitant increased stability and showed impaired binding to an isoform-specific variant of TRPV4 (605427), but not the full-length protein. Furthermore, consistent with the human pathology, expression of mutant PACS1 mRNA in zebrafish embryos induced craniofacial defects most likely in a dominant-negative fashion. The phenotype was driven by aberrant specification and migration of SOX10 (602229)-positive cranial, but not enteric, neural crest cells. </p><p>In a 3-year-old boy with SHMS, Gadzicki et al. (2015) identified the same de novo heterozygous c.607C-T transition in exon 4 of the PACS1 gene. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. </p><p>Schuurs-Hoeijmakers et al. (2016) reported 16 additional patients with SHMS resulting from the recurrent de novo heterozygous R203W mutation in the PACS1 gene. All of the patients were diagnosed by exome sequencing. </p><p>Martinez-Monseny et al. (2018) identified de novo heterozygosity for the R203W mutation in the PACS1 gene in a 12-year-old girl with SHMS. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. </p><p>By whole-exome sequencing in 2 Japanese children with SHMS, Hoshino et al. (2019) identified the recurrent de novo heterozygous R203W mutation in the PACS1 gene. </p>
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>1 Selected Example):</strong>
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</h4>
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<h4>
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<span class="mim-font">
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<strong>.0001 SCHUURS-HOEIJMAKERS SYNDROME</strong>
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PACS1, ARG203TRP
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<br />
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SNP: rs398123009,
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gnomAD: rs398123009,
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ClinVar: RCV000032781, RCV000210719, RCV000429725, RCV001095741, RCV001255394, RCV001310258, RCV001375021, RCV002251940, RCV003398585, RCV005055348
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<p>In 2 unrelated boys with mental retardation and a strikingly similar facial appearance (SHMS; 615009), Schuurs-Hoeijmakers et al. (2012) identified the same de novo heterozygous mutation in the PACS1 gene: a 607C-T transition resulting in an arg203-to-trp (R203W) substitution. The mutation was not identified in 150 alleles from the Dutch population, in 2,304 alleles from the local variant database, or in 7,020 alleles of European American origin from the NHLBI Exome Sequencing Project database. </p><p>In a 3-year-old boy with SHMS, Gadzicki et al. (2015) identified the same de novo heterozygous c.607C-T transition in exon 4 of the PACS1 gene. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. </p><p>Schuurs-Hoeijmakers et al. (2016) reported 16 additional patients with SHMS resulting from the recurrent de novo heterozygous R203W mutation in the PACS1 gene. All of the patients were diagnosed by exome sequencing. </p><p>Martinez-Monseny et al. (2018) identified de novo heterozygosity for the R203W mutation in the PACS1 gene in a 12-year-old girl with SHMS. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. </p><p>By whole-exome sequencing in 2 Japanese children with SHMS, Hoshino et al. (2019) identified the recurrent de novo heterozygous R203W mutation in the PACS1 gene. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Blagoveshchenskaya, A. D., Thomas, L., Feliciangeli, S. F., Hung, C.-H., Thomas, G.
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<strong>HIV-1 Nef downregulates MHC-I by a PACS-1- and PI3K-regulated ARF6 endocytic pathway.</strong>
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Cell 111: 853-866, 2002.
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[PubMed: 12526811]
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[Full Text: https://doi.org/10.1016/s0092-8674(02)01162-5]
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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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Gadzicki, D., Docker, D., Schubach, M., Menzel, M., Schmorl, B., Stellmer, F., Biskup, S., Bartholdi, D.
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<strong>Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. (Letter)</strong>
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Clin. Genet. 88: 300-302, 2015.
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[PubMed: 25522177]
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[Full Text: https://doi.org/10.1111/cge.12544]
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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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Hoshino, Y., Enokizono, T., Imagawa, K., Tanaka, R., Suzuki, H., Fukushima, H., Arai, J., Sumazaki, R., Uehara, T., Takenouchi, T., Kosaki, K.
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<strong>Schuurs-Hoeijmakers syndrome in two patients from Japan.</strong>
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Am. J. Med. Genet. 179A: 341-343, 2019.
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[PubMed: 30588754]
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[Full Text: https://doi.org/10.1002/ajmg.a.9]
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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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Kottgen, M., Benzing, T., Simmen, T., Tauber, R., Buchholz, B., Feliciangeli, S., Huber, T. B., Schermer, B., Kramer-Zucker, A., Hopker, K., Simmen, K. C., Tschucke, C. C., Sandford, R., Kim, E., Thomas, G., Walz, G.
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<strong>Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation.</strong>
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EMBO J. 24: 705-716, 2005.
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[PubMed: 15692563]
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[Full Text: https://doi.org/10.1038/sj.emboj.7600566]
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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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Martinez-Monseny, A., Bolasell, M., Arjona, C., Martorell, L., Yubero, D., Armstrong, J., Maynou, J., Fernandez, G., del Carmen Salgado, M., Palau, F., Serrano, M.
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<strong>Mutation of PACS1: the milder end of the spectrum.</strong>
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Clin. Dysmorph. 27: 148-150, 2018.
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[PubMed: 30113927]
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[Full Text: https://doi.org/10.1097/MCD.0000000000000237]
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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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Schuurs-Hoeijmakers, J. H. M., Landsverk, M. L., Foulds, N., Kukolich, M. K., Gavrilova, R. H., Greville-Heygate, S., Hanson-Kahn, A., Bernstein, J. A., Glass, J., Chitayat, D., Burrow, T. A., Husami, A., and 27 others.
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<strong>Clinical delineation of the PACS1-related syndrome--report on 19 patients.</strong>
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Am. J. Med. Genet. 170A: 670-675, 2016.
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[PubMed: 26842493]
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[Full Text: https://doi.org/10.1002/ajmg.a.37476]
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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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Schuurs-Hoeijmakers, J. H. M., Oh, E. C., Vissers, L. E. L. M., Swinkels, M. E. M., Gilissen, C., Willemsen, M. A., Holvoet, M., Steehouwer, M., Veltman, J. A., de Vries, B. B. A., van Bokhoven, H., de Brouwer, A. P. M., Katsanis, N., Devriendt, K., Brunner, H. G.
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<strong>Recurrent de novo mutations in PACS1 cause defective cranial neural-crest migration and define a recognizable intellectual-disability syndrome.</strong>
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Am. J. Hum. Genet. 91: 1122-1127, 2012.
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[PubMed: 23159249]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.10.013]
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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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Simmen, T., Aslan, J. E., Blagoveshchenskaya, A. D., Thomas, L., Wan, L., Xiang, Y., Feliciangeli, S. F., Hung, C.-H., Crump, C. M., Thomas, G.
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<strong>PACS-2 controls endoplasmic reticulum-mitochondria communication and Bid-mediated apoptosis.</strong>
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EMBO J. 24: 717-729, 2005. Note: Erratum: EMBO J. 24: 1301 only, 2005.
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[PubMed: 15692567]
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[Full Text: https://doi.org/10.1038/sj.emboj.7600559]
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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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Wan, L., Molloy, S. S., Thomas, L., Liu, G., Xiang, Y., Rybak, S. L., Thomas, G.
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<strong>PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization.</strong>
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Cell 94: 205-216, 1998.
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[PubMed: 9695949]
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[Full Text: https://doi.org/10.1016/s0092-8674(00)81420-8]
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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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<span class="text-nowrap mim-text-font">
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Contributors:
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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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Sonja A. Rasmussen - updated : 11/04/2021<br>Sonja A. Rasmussen - updated : 01/10/2019<br>Cassandra L. Kniffin - updated : 08/01/2016<br>Ada Hamosh - updated : 1/8/2013<br>Patricia A. Hartz - updated : 9/22/2006
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</span>
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Creation Date:
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<span class="mim-text-font">
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Stylianos E. Antonarakis : 1/17/2003
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Edit History:
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carol : 11/04/2021<br>carol : 06/23/2020<br>carol : 01/10/2019<br>carol : 05/18/2017<br>carol : 08/01/2016<br>ckniffin : 08/01/2016<br>carol : 07/29/2016<br>terry : 03/14/2013<br>alopez : 1/9/2013<br>terry : 1/8/2013<br>wwang : 9/22/2006<br>mgross : 1/17/2003<br>mgross : 1/17/2003
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