2638 lines
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2638 lines
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Entry
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- *607246 - ADAPTOR-RELATED PROTEIN COMPLEX 3, DELTA-1 SUBUNIT; AP3D1
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- OMIM
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<p>
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<span class="h4">*607246</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607246">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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000065000;t=ENST00000643116" 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=8943" 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=607246" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span 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=ENSG00000065000;t=ENST00000643116" 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_001261826,NM_001374799,NM_003938,XM_017027422,XM_047439597,XM_047439598,XM_047439599" 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_001261826" 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=607246" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=06260&isoform_id=06260_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/AP3D1" 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/1923266,2290770,3289995,3342736,3478639,3522925,11493395,14603210,20137255,33869469,62087188,117553580,119589818,119589822,164691215,193787662,387849337,1034609929,1765945250,2217323633,2217323635,2217323638,2462568417,2462568419,2462568421,2462568423" 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/O14617" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=8943" 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=ENSG00000065000;t=ENST00000643116" 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=AP3D1" 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=AP3D1" 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+8943" 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/AP3D1" 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:8943" 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/8943" 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=chr19&hgg_gene=ENST00000643116.3&hgg_start=2100988&hgg_end=2164616&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/genes/HGNC:568" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607246[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=607246[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000065000" 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=AP3D1" 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=AP3D1" 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=AP3D1" 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=AP3D1&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/PA24859" 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:568" 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/FBgn0001087.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:107734" 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/AP3D1#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:107734" 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/8943/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=8943" 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=WBGene00000162;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-050208-437" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8943" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=AP3D1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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607246
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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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ADAPTOR-RELATED PROTEIN COMPLEX 3, DELTA-1 SUBUNIT; AP3D1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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ADAPTIN, DELTA<br />
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GARNET, DROSOPHILA, HOMOLOG OF<br />
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MOCHA, MOUSE, HOMOLOG OF
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=AP3D1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">AP3D1</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/19/76?start=-3&limit=10&highlight=76">19p13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:2100988-2164616&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'})">19:2,100,988-2,164,616</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/19/76?start=-3&limit=10&highlight=76">
|
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19p13.3
|
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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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?Hermansky-Pudlak syndrome 10
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
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</span>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/617050"> 617050 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/607246" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/607246" 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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<p>AP3D1 is a subunit of the AP3 adaptor-like complex, which is not associated with clathrin (<a href="#6" class="mim-tip-reference" title="Simpson, F., Peden, A. A., Christopoulou, L., Robinson, M. S. <strong>Characterization of the adaptor-related protein complex, AP-3.</strong> J. Cell Biol. 137: 835-845, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9151686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9151686</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9151686[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/10.1083/jcb.137.4.835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9151686">Simpson et al., 1997</a>). The AP3D1 subunit is implicated in intracellular biogenesis and trafficking of pigment granules (<a href="#5" class="mim-tip-reference" title="Ooi, C. E., Moreira, J. E., Dell'Angelica, E. C., Poy, G., Wassarman, D. A., Bonifacino, J. S. <strong>Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet.</strong> EMBO J. 16: 4508-4518, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9303295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9303295</a>] [<a href="https://doi.org/10.1093/emboj/16.15.4508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9303295">Ooi et al., 1997</a>) and possibly platelet dense granules and neurotransmitter vesicles (<a href="#3" class="mim-tip-reference" title="Kantheti, P., Qiao, X., Diaz, M. E., Peden, A. A., Meyer, G. E., Carskadon, S. L., Kapfhamer, D., Sufalko, D., Robinson, M. S., Noebels, J. L., Burmeister, M. <strong>Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles.</strong> Neuron 21: 111-122, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9697856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9697856</a>] [<a href="https://doi.org/10.1016/s0896-6273(00)80519-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9697856">Kantheti et al., 1998</a>). AP3D1 is expressed in the ubiquitous AP3 complex and also in the neuronal form (summary by <a href="#1" class="mim-tip-reference" title="Ammann, S., Schulz, A., Krageloh-Mann, I., Dieckmann, N. M. G., Niethammer, K., Fuchs, S., Eckl, K. M., Plank, R., Werner, R., Altmuller, J., Thiele, H., Nurnberg, P., and 9 others. <strong>Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.</strong> Blood 127: 997-1006, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26744459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26744459</a>] [<a href="https://doi.org/10.1182/blood-2015-09-671636" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26744459">Ammann et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9697856+9151686+26744459+9303295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using homology with the alpha- (see AP2A1; <a href="/entry/601026">601026</a>) and gamma-adaptins (see AP1G1; <a href="/entry/603533">603533</a>) of the AP2 and AP1 complexes, respectively, <a href="#6" class="mim-tip-reference" title="Simpson, F., Peden, A. A., Christopoulou, L., Robinson, M. S. <strong>Characterization of the adaptor-related protein complex, AP-3.</strong> J. Cell Biol. 137: 835-845, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9151686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9151686</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9151686[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/10.1083/jcb.137.4.835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9151686">Simpson et al. (1997)</a> identified an EST clone of AP3D1, and they obtained the full-length cDNA by screening a heart cDNA library. The predicted 1,112-amino acid protein has a calculated molecular mass of 125 kD and contains an N-terminal domain, a highly hydrophilic linker or 'hinge' domain, and a C-terminal 'ear' domain. It also has a WIIGEY consensus sequence found in adaptins and in beta-COP (<a href="/entry/600959">600959</a>). AP3D1 shares only about 15% identity with the alpha- and gamma-adaptins, and the homology is restricted to the extreme N-terminal portion. AP3D1 shares 96% identity with the homologous Drosophila 'garnet' protein across an N-terminal 100-amino acid stretch. Using coimmunoprecipitation of pig brain cytosol, <a href="#6" class="mim-tip-reference" title="Simpson, F., Peden, A. A., Christopoulou, L., Robinson, M. S. <strong>Characterization of the adaptor-related protein complex, AP-3.</strong> J. Cell Biol. 137: 835-845, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9151686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9151686</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9151686[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/10.1083/jcb.137.4.835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9151686">Simpson et al. (1997)</a> determined that AP3D1, beta-3 (see AP3B1; <a href="/entry/603401">603401</a>), sigma-3 (see AP3S1; <a href="/entry/601507">601507</a>), and mu-3 (see AP3M1; <a href="/entry/610366">610366</a>), but not gamma-adaptins, interact in AP3 complexes. Immunofluorescence localization of AP3D1 showed colocalization with AP3B. Endogenous AP3 complexes showed perinuclear staining with punctate labeling extending to the cell periphery. Staining did not colocalize with endosomal or trans-Golgi markers, nor did it colocalize with clathrin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9151686" 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="Ooi, C. E., Moreira, J. E., Dell'Angelica, E. C., Poy, G., Wassarman, D. A., Bonifacino, J. S. <strong>Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet.</strong> EMBO J. 16: 4508-4518, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9303295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9303295</a>] [<a href="https://doi.org/10.1093/emboj/16.15.4508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9303295">Ooi et al. (1997)</a> independently cloned AP3D1 based on sequence similarity with the alpha- and gamma-adaptins. The predicted 1,153-amino acid protein has a calculated molecular mass of 130 kD. <a href="#5" class="mim-tip-reference" title="Ooi, C. E., Moreira, J. E., Dell'Angelica, E. C., Poy, G., Wassarman, D. A., Bonifacino, J. S. <strong>Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet.</strong> EMBO J. 16: 4508-4518, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9303295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9303295</a>] [<a href="https://doi.org/10.1093/emboj/16.15.4508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9303295">Ooi et al. (1997)</a> noted that a C-terminal extension results in the hinge/ear domain being about 2-fold larger than those of the alpha- and gamma-adaptins. They also identified 3 variants containing in-frame deletions. Northern blot analysis revealed a 5-kb transcript in all tissues examined, with highest expression in skeletal muscle, heart, pancreas, and testis. A minor 5.5-kb transcript was detected in skeletal muscle and heart, and a minor 4-kb transcript was detected in testis. Coimmunoprecipitations of human fibroblasts confirmed that AP3D1 interacts with the other subunits of the AP3 complex. Western blot analysis of AP3 complex affinity purified from Jurkat cell cytosol showed AP3D1 to have an apparent molecular mass of 160 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9303295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 10/30/2017."None>Gross (2017)</a> mapped the AP3D1 gene to chromosome 19p13.3 based on an alignment of the AP3D1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF002163" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF002163</a>) with the genomic sequence (GRCh38).</p><p><a href="#3" class="mim-tip-reference" title="Kantheti, P., Qiao, X., Diaz, M. E., Peden, A. A., Meyer, G. E., Carskadon, S. L., Kapfhamer, D., Sufalko, D., Robinson, M. S., Noebels, J. L., Burmeister, M. <strong>Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles.</strong> Neuron 21: 111-122, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9697856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9697856</a>] [<a href="https://doi.org/10.1016/s0896-6273(00)80519-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9697856">Kantheti et al. (1998)</a> mapped the mouse Ap3d1 gene to chromosome 10 in a region showing homology of synteny to human chromosome 19p13.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9697856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a yeast 2-hybrid assay, <a href="#4" class="mim-tip-reference" title="Lefrancois, S., Janvier, K., Boehm, M., Ooi, C. E., Bonifacino, J. S. <strong>An ear-core interaction regulates the recruitment of the AP-3 complex to membranes.</strong> Dev. Cell 7: 619-625, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15469849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15469849</a>] [<a href="https://doi.org/10.1016/j.devcel.2004.08.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15469849">Lefrancois et al. (2004)</a> determined that the ear domain of the AP3 delta subunit (AP3D1) interacts with both isoforms of the sigma-3 subunit, sigma-3A (AP3S1) and sigma-3B (AP3S2; <a href="/entry/602416">602416</a>). An extended C-terminal segment of sigma-3 was necessary for the interaction with the delta subunit. The delta-sigma-3 interaction interfered with the binding of AP3 to ARF (see <a href="/entry/103180">103180</a>), but not with its binding to dileucine-based sorting signals. As a consequence, the delta subunit ear inhibited the recruitment of AP3 to membranes both in vitro and in vivo and impaired the sorting of lysosomal membrane proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15469849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a boy, born of consanguineous Turkish parents, with Hermansky-Pudlak syndrome-10 (HPS10; <a href="/entry/617050">617050</a>), <a href="#1" class="mim-tip-reference" title="Ammann, S., Schulz, A., Krageloh-Mann, I., Dieckmann, N. M. G., Niethammer, K., Fuchs, S., Eckl, K. M., Plank, R., Werner, R., Altmuller, J., Thiele, H., Nurnberg, P., and 9 others. <strong>Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.</strong> Blood 127: 997-1006, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26744459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26744459</a>] [<a href="https://doi.org/10.1182/blood-2015-09-671636" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26744459">Ammann et al. (2016)</a> identified a homozygous truncating mutation in the AP3D1 gene (<a href="#0001">607246.0001</a>). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. The mutation was shown to disrupt assembly of the AP3 complex, consistent with a loss of function, and putatively causing a defect in the biogenesis and transport of lysosome-related organelles. <a href="#1" class="mim-tip-reference" title="Ammann, S., Schulz, A., Krageloh-Mann, I., Dieckmann, N. M. G., Niethammer, K., Fuchs, S., Eckl, K. M., Plank, R., Werner, R., Altmuller, J., Thiele, H., Nurnberg, P., and 9 others. <strong>Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.</strong> Blood 127: 997-1006, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26744459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26744459</a>] [<a href="https://doi.org/10.1182/blood-2015-09-671636" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26744459">Ammann et al. (2016)</a> noted the phenotypic similarities to the 'mocha' mouse, which results from a null mutation in the Ap3d1 gene (see ANIMAL MODEL). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26744459" 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="#6" class="mim-tip-reference" title="Simpson, F., Peden, A. A., Christopoulou, L., Robinson, M. S. <strong>Characterization of the adaptor-related protein complex, AP-3.</strong> J. Cell Biol. 137: 835-845, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9151686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9151686</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9151686[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/10.1083/jcb.137.4.835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9151686">Simpson et al. (1997)</a> and <a href="#5" class="mim-tip-reference" title="Ooi, C. E., Moreira, J. E., Dell'Angelica, E. C., Poy, G., Wassarman, D. A., Bonifacino, J. S. <strong>Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet.</strong> EMBO J. 16: 4508-4518, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9303295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9303295</a>] [<a href="https://doi.org/10.1093/emboj/16.15.4508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9303295">Ooi et al. (1997)</a> showed that the garnet mutation in Drosophila, which causes reduced pigmentation of the eyes and other tissues, results from a mutation in the fly Ap3d1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9151686+9303295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The 'mocha' mouse mutant, a model for Hermansky-Pudlak syndrome (see <a href="/entry/203300">203300</a>), shows coat and eye color dilution, reduced levels of renal lysosomal enzymes in urine, and prolonged bleeding due to storage pool deficiency in the dense granules of platelets. Mocha mice have balance problems due to otolith defects and eventually become deaf. They are also hyperactive and have a unique hypersynchronized 6- to 7-Hz electrocortigram. By Southern blot analysis of restriction digests of mocha mouse DNA, <a href="#3" class="mim-tip-reference" title="Kantheti, P., Qiao, X., Diaz, M. E., Peden, A. A., Meyer, G. E., Carskadon, S. L., Kapfhamer, D., Sufalko, D., Robinson, M. S., Noebels, J. L., Burmeister, M. <strong>Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles.</strong> Neuron 21: 111-122, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9697856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9697856</a>] [<a href="https://doi.org/10.1016/s0896-6273(00)80519-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9697856">Kantheti et al. (1998)</a> determined that mocha is a null allele of the Ap3d1 gene. They observed a lack of AP3 in mocha tissues and reduced levels of the zinc transporter Znt3 (SLC30A3; <a href="/entry/602878">602878</a>) in brain, resulting in a lack of zinc-associated Timm historeactivity in hippocampal mossy fibers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9697856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607246[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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<strong>.0001 HERMANSKY-PUDLAK SYNDROME 10 (1 patient)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879255646 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255646;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs879255646" 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=rs879255646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a boy, born of consanguineous Turkish parents, with Hermansky-Pudlak syndrome-10 (HPS10; <a href="/entry/617050">617050</a>), <a href="#1" class="mim-tip-reference" title="Ammann, S., Schulz, A., Krageloh-Mann, I., Dieckmann, N. M. G., Niethammer, K., Fuchs, S., Eckl, K. M., Plank, R., Werner, R., Altmuller, J., Thiele, H., Nurnberg, P., and 9 others. <strong>Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.</strong> Blood 127: 997-1006, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26744459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26744459</a>] [<a href="https://doi.org/10.1182/blood-2015-09-671636" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26744459">Ammann et al. (2016)</a> identified a homozygous 2-bp deletion (c.3565_3566delGT, NM_001261826) in exon 32 of the AP3D1 gene, resulting in a frameshift and premature termination (Val1189LeufsTer8). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family, and was not found in the 1000 Genomes Project or Exome Sequencing Project databases. The mutation affects both isoforms of AP3D1: in isoform 2, the mutation is found in exon 30 (c.3379_3380delGT, NM_003938). Patient T cells showed significantly decreased levels of the AP3D1 protein compared to controls; other proteins in the AP3 complex were also decreased, consistent with an unstable heterotetramer formation. The AP3 assembly defects and defects in patient T-cell degranulation were rescued by expression of wildtype AP3D1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26744459" 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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Ammann, S., Schulz, A., Krageloh-Mann, I., Dieckmann, N. M. G., Niethammer, K., Fuchs, S., Eckl, K. M., Plank, R., Werner, R., Altmuller, J., Thiele, H., Nurnberg, P., and 9 others.
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<strong>Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.</strong>
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Blood 127: 997-1006, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26744459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26744459</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26744459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Baltimore, Md. 10/30/2017.
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Kantheti, P., Qiao, X., Diaz, M. E., Peden, A. A., Meyer, G. E., Carskadon, S. L., Kapfhamer, D., Sufalko, D., Robinson, M. S., Noebels, J. L., Burmeister, M.
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<strong>Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles.</strong>
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Neuron 21: 111-122, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9697856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9697856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9697856" 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/s0896-6273(00)80519-x" target="_blank">Full Text</a>]
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Lefrancois, S., Janvier, K., Boehm, M., Ooi, C. E., Bonifacino, J. S.
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<strong>An ear-core interaction regulates the recruitment of the AP-3 complex to membranes.</strong>
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Dev. Cell 7: 619-625, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15469849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15469849</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15469849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet.</strong>
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EMBO J. 16: 4508-4518, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9303295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9303295</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9303295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Simpson, F., Peden, A. A., Christopoulou, L., Robinson, M. S.
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J. Cell Biol. 137: 835-845, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9151686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9151686</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9151686[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=9151686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Matthew B. Gross - updated : 10/30/2017
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Cassandra L. Kniffin - updated : 07/25/2016<br>Patricia A. Hartz - updated : 11/22/2004
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Patricia A. Hartz : 9/20/2002
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carol : 07/27/2016<br>ckniffin : 07/25/2016<br>alopez : 05/14/2015<br>wwang : 8/31/2006<br>mgross : 11/22/2004<br>mgross : 9/20/2002
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<h3>
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<span class="mim-font">
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<strong>*</strong> 607246
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<h3>
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ADAPTOR-RELATED PROTEIN COMPLEX 3, DELTA-1 SUBUNIT; AP3D1
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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ADAPTIN, DELTA<br />
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GARNET, DROSOPHILA, HOMOLOG OF<br />
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MOCHA, MOUSE, HOMOLOG OF
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: AP3D1</em></strong>
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</span>
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</p>
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<strong>
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<em>
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Cytogenetic location: 19p13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 19:2,100,988-2,164,616 </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 class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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19p13.3
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<td>
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<span class="mim-font">
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?Hermansky-Pudlak syndrome 10
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<span class="mim-font">
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617050
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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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>AP3D1 is a subunit of the AP3 adaptor-like complex, which is not associated with clathrin (Simpson et al., 1997). The AP3D1 subunit is implicated in intracellular biogenesis and trafficking of pigment granules (Ooi et al., 1997) and possibly platelet dense granules and neurotransmitter vesicles (Kantheti et al., 1998). AP3D1 is expressed in the ubiquitous AP3 complex and also in the neuronal form (summary by Ammann et al., 2016). </p>
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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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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using homology with the alpha- (see AP2A1; 601026) and gamma-adaptins (see AP1G1; 603533) of the AP2 and AP1 complexes, respectively, Simpson et al. (1997) identified an EST clone of AP3D1, and they obtained the full-length cDNA by screening a heart cDNA library. The predicted 1,112-amino acid protein has a calculated molecular mass of 125 kD and contains an N-terminal domain, a highly hydrophilic linker or 'hinge' domain, and a C-terminal 'ear' domain. It also has a WIIGEY consensus sequence found in adaptins and in beta-COP (600959). AP3D1 shares only about 15% identity with the alpha- and gamma-adaptins, and the homology is restricted to the extreme N-terminal portion. AP3D1 shares 96% identity with the homologous Drosophila 'garnet' protein across an N-terminal 100-amino acid stretch. Using coimmunoprecipitation of pig brain cytosol, Simpson et al. (1997) determined that AP3D1, beta-3 (see AP3B1; 603401), sigma-3 (see AP3S1; 601507), and mu-3 (see AP3M1; 610366), but not gamma-adaptins, interact in AP3 complexes. Immunofluorescence localization of AP3D1 showed colocalization with AP3B. Endogenous AP3 complexes showed perinuclear staining with punctate labeling extending to the cell periphery. Staining did not colocalize with endosomal or trans-Golgi markers, nor did it colocalize with clathrin. </p><p>Ooi et al. (1997) independently cloned AP3D1 based on sequence similarity with the alpha- and gamma-adaptins. The predicted 1,153-amino acid protein has a calculated molecular mass of 130 kD. Ooi et al. (1997) noted that a C-terminal extension results in the hinge/ear domain being about 2-fold larger than those of the alpha- and gamma-adaptins. They also identified 3 variants containing in-frame deletions. Northern blot analysis revealed a 5-kb transcript in all tissues examined, with highest expression in skeletal muscle, heart, pancreas, and testis. A minor 5.5-kb transcript was detected in skeletal muscle and heart, and a minor 4-kb transcript was detected in testis. Coimmunoprecipitations of human fibroblasts confirmed that AP3D1 interacts with the other subunits of the AP3 complex. Western blot analysis of AP3 complex affinity purified from Jurkat cell cytosol showed AP3D1 to have an apparent molecular mass of 160 kD. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gross (2017) mapped the AP3D1 gene to chromosome 19p13.3 based on an alignment of the AP3D1 sequence (GenBank AF002163) with the genomic sequence (GRCh38).</p><p>Kantheti et al. (1998) mapped the mouse Ap3d1 gene to chromosome 10 in a region showing homology of synteny to human chromosome 19p13.3. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using a yeast 2-hybrid assay, Lefrancois et al. (2004) determined that the ear domain of the AP3 delta subunit (AP3D1) interacts with both isoforms of the sigma-3 subunit, sigma-3A (AP3S1) and sigma-3B (AP3S2; 602416). An extended C-terminal segment of sigma-3 was necessary for the interaction with the delta subunit. The delta-sigma-3 interaction interfered with the binding of AP3 to ARF (see 103180), but not with its binding to dileucine-based sorting signals. As a consequence, the delta subunit ear inhibited the recruitment of AP3 to membranes both in vitro and in vivo and impaired the sorting of lysosomal membrane proteins. </p>
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</span>
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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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<span class="mim-text-font">
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<p>In a boy, born of consanguineous Turkish parents, with Hermansky-Pudlak syndrome-10 (HPS10; 617050), Ammann et al. (2016) identified a homozygous truncating mutation in the AP3D1 gene (607246.0001). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. The mutation was shown to disrupt assembly of the AP3 complex, consistent with a loss of function, and putatively causing a defect in the biogenesis and transport of lysosome-related organelles. Ammann et al. (2016) noted the phenotypic similarities to the 'mocha' mouse, which results from a null mutation in the Ap3d1 gene (see ANIMAL MODEL). </p>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Simpson et al. (1997) and Ooi et al. (1997) showed that the garnet mutation in Drosophila, which causes reduced pigmentation of the eyes and other tissues, results from a mutation in the fly Ap3d1 gene. </p><p>The 'mocha' mouse mutant, a model for Hermansky-Pudlak syndrome (see 203300), shows coat and eye color dilution, reduced levels of renal lysosomal enzymes in urine, and prolonged bleeding due to storage pool deficiency in the dense granules of platelets. Mocha mice have balance problems due to otolith defects and eventually become deaf. They are also hyperactive and have a unique hypersynchronized 6- to 7-Hz electrocortigram. By Southern blot analysis of restriction digests of mocha mouse DNA, Kantheti et al. (1998) determined that mocha is a null allele of the Ap3d1 gene. They observed a lack of AP3 in mocha tissues and reduced levels of the zinc transporter Znt3 (SLC30A3; 602878) in brain, resulting in a lack of zinc-associated Timm historeactivity in hippocampal mossy fibers. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>1 Selected Example):</strong>
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</span>
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</h4>
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<div>
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<p />
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 HERMANSKY-PUDLAK SYNDROME 10 (1 patient)</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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AP3D1, 2-BP DEL, 3565GT
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<br />
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SNP: rs879255646,
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ClinVar: RCV000239510
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</span>
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<div>
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<span class="mim-text-font">
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<p>In a boy, born of consanguineous Turkish parents, with Hermansky-Pudlak syndrome-10 (HPS10; 617050), Ammann et al. (2016) identified a homozygous 2-bp deletion (c.3565_3566delGT, NM_001261826) in exon 32 of the AP3D1 gene, resulting in a frameshift and premature termination (Val1189LeufsTer8). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family, and was not found in the 1000 Genomes Project or Exome Sequencing Project databases. The mutation affects both isoforms of AP3D1: in isoform 2, the mutation is found in exon 30 (c.3379_3380delGT, NM_003938). Patient T cells showed significantly decreased levels of the AP3D1 protein compared to controls; other proteins in the AP3 complex were also decreased, consistent with an unstable heterotetramer formation. The AP3 assembly defects and defects in patient T-cell degranulation were rescued by expression of wildtype AP3D1. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Ammann, S., Schulz, A., Krageloh-Mann, I., Dieckmann, N. M. G., Niethammer, K., Fuchs, S., Eckl, K. M., Plank, R., Werner, R., Altmuller, J., Thiele, H., Nurnberg, P., and 9 others.
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<strong>Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.</strong>
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Blood 127: 997-1006, 2016.
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[PubMed: 26744459]
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[Full Text: https://doi.org/10.1182/blood-2015-09-671636]
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<li>
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 10/30/2017.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kantheti, P., Qiao, X., Diaz, M. E., Peden, A. A., Meyer, G. E., Carskadon, S. L., Kapfhamer, D., Sufalko, D., Robinson, M. S., Noebels, J. L., Burmeister, M.
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<strong>Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles.</strong>
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Neuron 21: 111-122, 1998.
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[PubMed: 9697856]
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[Full Text: https://doi.org/10.1016/s0896-6273(00)80519-x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lefrancois, S., Janvier, K., Boehm, M., Ooi, C. E., Bonifacino, J. S.
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<strong>An ear-core interaction regulates the recruitment of the AP-3 complex to membranes.</strong>
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Dev. Cell 7: 619-625, 2004.
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[PubMed: 15469849]
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[Full Text: https://doi.org/10.1016/j.devcel.2004.08.009]
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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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Ooi, C. E., Moreira, J. E., Dell'Angelica, E. C., Poy, G., Wassarman, D. A., Bonifacino, J. S.
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<strong>Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet.</strong>
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EMBO J. 16: 4508-4518, 1997.
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[PubMed: 9303295]
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[Full Text: https://doi.org/10.1093/emboj/16.15.4508]
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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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Simpson, F., Peden, A. A., Christopoulou, L., Robinson, M. S.
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<strong>Characterization of the adaptor-related protein complex, AP-3.</strong>
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J. Cell Biol. 137: 835-845, 1997.
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[PubMed: 9151686]
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[Full Text: https://doi.org/10.1083/jcb.137.4.835]
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</li>
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</ol>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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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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Matthew B. Gross - updated : 10/30/2017<br>Cassandra L. Kniffin - updated : 07/25/2016<br>Patricia A. Hartz - updated : 11/22/2004
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</span>
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</div>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 9/20/2002
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<span class="text-nowrap mim-text-font">
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Edit History:
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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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mgross : 10/30/2017<br>carol : 07/27/2016<br>ckniffin : 07/25/2016<br>alopez : 05/14/2015<br>wwang : 8/31/2006<br>mgross : 11/22/2004<br>mgross : 9/20/2002
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<div>
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<br />
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