3810 lines
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3810 lines
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Entry
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- *603401 - ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603401</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603401">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000132842;t=ENST00000255194" 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=8546" 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=603401" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000132842;t=ENST00000255194" 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_001271769,NM_001410752,NM_003664" 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_003664" 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=603401" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</div>
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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=04551&isoform_id=04551_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/AP3B1" 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/1923268,2199512,9887093,23512245,31874151,32484979,49065855,119616217,119616218,119616219,158255838,194382010,254763431,419636284,957950479,957950482,957950485,2286439529" 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/O00203" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=8546" 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=ENSG00000132842;t=ENST00000255194" 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=AP3B1" 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=AP3B1" 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+8546" 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/AP3B1" 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:8546" 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/8546" 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=chr5&hgg_gene=ENST00000255194.11&hgg_start=78000522&hgg_end=78294698&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="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:566" 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=603401[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=603401[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/AP3B1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000132842" 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=AP3B1" 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=AP3B1" 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=AP3B1" 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="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://albinismdb.med.umn.edu/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Albinism Database</a></div><div style="margin-left: 0.5em;"><a href="http://structure.bmc.lu.se/idbase/AP3B1base/" title="AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">AP3B1base: Mutation regist…</a></div><div style="margin-left: 0.5em;"><a href="http://www.retina-international.org/files/sci-news/adtb3mut.htm" title="Mutations of the Adaptin b3a Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Mutations of the Adaptin b…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=AP3B1&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/PA24857" 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:566" 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/FBgn0003210.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:1333879" 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/AP3B1#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:1333879" 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/8546/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://omia.org/OMIA000248/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=8546" 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=WBGene00000163;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-031112-8" 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="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:603401" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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:8546" 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=AP3B1&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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603401
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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, BETA-1 SUBUNIT; AP3B1
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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, BETA-3A; ADTB3A<br />
|
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HPS2 GENE; HPS2<br />
|
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PEARL, MOUSE, HOMOLOG OF; PE
|
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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=AP3B1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">AP3B1</a></em></strong>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/5/279?start=-3&limit=10&highlight=279">5q14.1</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:78000522-78294698&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'})">5:78,000,522-78,294,698</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
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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>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/279?start=-3&limit=10&highlight=279">
|
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5q14.1
|
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</a>
|
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</span>
|
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</td>
|
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<td>
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<p>The AP3B1 gene encodes the large B1 subunit of the adaptor-related protein complex-3, a heterotetrameric complex involved in protein trafficking to lysosomes or specialized endosomal-lysosomal organelles such as pigment granules, melanosomes, and platelet dense granules (<a href="#4" class="mim-tip-reference" title="Dell'Angelica, E. C., Klumperman, J., Stoorvogel, W., Bonifacino, J. S. <strong>Association of the AP-3 adaptor complex with clathrin.</strong> Science 280: 431-434, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545220</a>] [<a href="https://doi.org/10.1126/science.280.5362.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9545220">Dell'Angelica et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9545220" 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="#5" class="mim-tip-reference" title="Dell'Angelica, E. C., Ooi, C. E., Bonifacino, J. S. <strong>Beta-3A-adaptin, a subunit of the adaptor-like complex AP-3.</strong> J. Biol. Chem. 272: 15078-15084, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9182526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9182526</a>] [<a href="https://doi.org/10.1074/jbc.272.24.15078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9182526">Dell'Angelica et al. (1997)</a> cloned a cDNA encoding the 140-kD subunit of AP3, named beta-3A-adaptin, by its homology to beta-NAP (<a href="/entry/602166">602166</a>). The 1,094-amino acid beta-3A-adaptin protein shares 61% identity with beta-NAP and is also related to the beta-1- (AP1B1; <a href="/entry/600157">600157</a>) and beta-2-adaptin (AP2B1; <a href="/entry/601025">601025</a>) subunits of complexes AP1 and AP2, respectively. The central hydrophilic region of beta-3A-adaptin is rich in acidic and serine residues and contains many potential sites for phosphorylation; the authors demonstrated that beta-3A-adaptin is phosphorylated in vivo on serine residues. Northern blot analysis detected an approximately 4.2-kb transcript in all human tissues examined and in nonneuronal and neuronal cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9182526" 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>Independently, <a href="#15" 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> cloned a beta-3A-adaptin cDNA which encodes a 1,093-amino acid protein. <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>
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<p><a href="#10" class="mim-tip-reference" title="Huizing, M., Scher, C. D., Strovel, E., Fitzpatrick, D. L., Hartnell, L. M., Anikster, Y., Gahl, W. A. <strong>Nonsense mutations in ADTB3A cause complete deficiency of the beta-3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.</strong> Pediat. Res. 51: 150-158, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11809908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11809908</a>] [<a href="https://doi.org/10.1203/00006450-200202000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11809908">Huizing et al. (2002)</a> determined that the AP3B1 gene contains 27 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11809908" 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="#16" class="mim-tip-reference" title="Stumpf, A. M. <strong>Personal Communication.</strong> Baltimore, Md. 09/12/2024."None>Stumpf (2024)</a> mapped the AP3B1 gene to chromosome 5q14.1 based on an alignment of the AP3B1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC038444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC038444</a>) with the genomic sequence (GRCh38).</p>
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<p><a href="#4" class="mim-tip-reference" title="Dell'Angelica, E. C., Klumperman, J., Stoorvogel, W., Bonifacino, J. S. <strong>Association of the AP-3 adaptor complex with clathrin.</strong> Science 280: 431-434, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545220</a>] [<a href="https://doi.org/10.1126/science.280.5362.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9545220">Dell'Angelica et al. (1998)</a> demonstrated that mammalian AP3 adaptor complex associated with clathrin by interaction of the appendage domain of the AP3B1 protein with the amino-terminal domain of the clathrin heavy chain (CLTC; <a href="/entry/118955">118955</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9545220" 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="#14" class="mim-tip-reference" title="Sasai, M., Linehan, M. M., Iwasaki, A. <strong>Bifurcation of Toll-like receptor 9 signaling by adaptor protein 3.</strong> Science 329: 1530-1534, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20847273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20847273</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20847273[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/10.1126/science.1187029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20847273">Sasai et al. (2010)</a> identified adaptor protein-3 as the protein complex responsible for the trafficking of Toll-like receptor-9 (TLR9; <a href="/entry/605474">605474</a>) from endosomes to a specialized lysosome-related organelle. This trafficking is required for the activation of type I IFN (<a href="/entry/147660">147660</a>) by TLR9. <a href="#14" class="mim-tip-reference" title="Sasai, M., Linehan, M. M., Iwasaki, A. <strong>Bifurcation of Toll-like receptor 9 signaling by adaptor protein 3.</strong> Science 329: 1530-1534, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20847273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20847273</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20847273[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/10.1126/science.1187029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20847273">Sasai et al. (2010)</a> concluded that their results revealed an intracellular mechanism for bifurcation of TLR9 signals by selective receptor trafficking within the endosomal system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20847273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 patients with Hermansky-Pudlak syndrome-2 (HPS2; <a href="/entry/608233">608233</a>), <a href="#6" class="mim-tip-reference" title="Dell'Angelica, E. C., Shotelersuk, V., Aguilar, R. C., Gahl, W. A., Bonifacino, J. S. <strong>Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta-3A subunit of the AP-3 adaptor.</strong> Molec. Cell 3: 11-21, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10024875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10024875</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80170-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10024875">Dell'Angelica et al. (1999)</a> identified mutations in the AP3B1 gene (<a href="#0001">603401.0001</a>-<a href="#0002">603401.0002</a>). The patients' fibroblasts exhibited drastically reduced levels of AP3 due to enhanced degradation of mutant beta-3A. The AP3 deficiency resulted in increased surface expression of the lysosomal membrane proteins CD63 (<a href="/entry/155740">155740</a>), LAMP1 (<a href="/entry/153330">153330</a>), and LAMP2 (<a href="/entry/309060">309060</a>), but not of nonlysosomal proteins. These differential effects are consistent with the preferential interaction of the AP3 mu-3A subunit with tyrosine-based signals involved in lysosomal targeting. <a href="#6" class="mim-tip-reference" title="Dell'Angelica, E. C., Shotelersuk, V., Aguilar, R. C., Gahl, W. A., Bonifacino, J. S. <strong>Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta-3A subunit of the AP-3 adaptor.</strong> Molec. Cell 3: 11-21, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10024875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10024875</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80170-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10024875">Dell'Angelica et al. (1999)</a> suggested that AP3 functions in protein sorting to lysosomes and that HPS provides an example of a human disease in which altered trafficking of integral membrane proteins is due to mutations in a component of the sorting machinery. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10024875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Clark, R. H., Stinchcombe, J. C., Day, A., Blott, E., Booth, S., Bossi, G., Hamblin, T., Davies, E. G., Griffiths, G. M. <strong>Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse.</strong> Nature Immun. 4: 1111-1120, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14566336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14566336</a>] [<a href="https://doi.org/10.1038/ni1000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14566336">Clark et al. (2003)</a> found that CD8 (see <a href="/entry/186910">186910</a>)-positive cytotoxic T lymphocytes (CTLs) from an immunodeficient HPS patient lacked the beta-3A, gamma, and mu-3A subunits of AP3, consistent with HPS2. By PCR analysis, they identified compound heterozygosity for mutations in the AP3B1 gene. <a href="#3" class="mim-tip-reference" title="Clark, R. H., Stinchcombe, J. C., Day, A., Blott, E., Booth, S., Bossi, G., Hamblin, T., Davies, E. G., Griffiths, G. M. <strong>Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse.</strong> Nature Immun. 4: 1111-1120, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14566336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14566336</a>] [<a href="https://doi.org/10.1038/ni1000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14566336">Clark et al. (2003)</a> determined that AP3 deficiency results in loss of microtubule-mediated movement of enlarged perforin- and granzyme-containing lytic granules toward the immunologic synapse and a profound loss of CTL-mediated killing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14566336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The autosomal recessive mouse mutation 'pearl' (pe) maps to distal mouse chromosome 13. Pearl mice have been thought to be appropriate models for HPS because they exhibit hypopigmentation, lysosomal secretion abnormalities, and platelet-dense granules with reduced levels of adenine nucleotides and serotonin. The changes in platelets lead to prolonged bleeding. Additionally, pearl mice exhibit reduced sensitivity in the dark-adapted state, suggesting a model for human congenital stationary night blindness (<a href="#1" class="mim-tip-reference" title="Balkema, G. W., Mangini, N. J., Pinto, L. H. <strong>Discrete visual defects in pearl mutant mice.</strong> Science 219: 1085-1087, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6600521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6600521</a>] [<a href="https://doi.org/10.1126/science.6600521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6600521">Balkema et al., 1983</a>). The adaptor-related coat complex, termed AP3, likely facilitates trafficking of vesicles from the trans-Golgi network and/or endosomal compartments by interacting with tyrosine and dileucine signals on proteins of lysosomes and other intracellular organelles. AP3 is heterotetrameric, containing 2 large subunits, delta- and beta-3, a medium-sized subunit, mu-3, and a small subunit, sigma-3. <a href="#9" class="mim-tip-reference" title="Feng, L., Seymour, A. B., Jiang, S., To, A., Peden, A. A., Novak, E. K., Zhen, L., Rusiniak, M. E., Eicher, E. M., Robinson, M. S., Gorin, M. B., Swank, R. T. <strong>The beta-3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness.</strong> Hum. Molec. Genet. 8: 323-330, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931340</a>] [<a href="https://doi.org/10.1093/hmg/8.2.323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9931340">Feng et al. (1999)</a> reported positional/candidate cloning of the pearl gene and presented evidence from mutation analysis that the primary pearl gene defect is in the Ap3b1 gene, which encodes the beta-3A subunit of the AP3 adaptor complex. Mutations in 2 different pearl alleles, including a large internal tandem duplication and a deletion, were predicted to abrogate function of the beta-3A protein. Significantly lowered expression of altered beta-3A transcripts occurred in kidney of both mutant alleles. <a href="#6" class="mim-tip-reference" title="Dell'Angelica, E. C., Shotelersuk, V., Aguilar, R. C., Gahl, W. A., Bonifacino, J. S. <strong>Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta-3A subunit of the AP-3 adaptor.</strong> Molec. Cell 3: 11-21, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10024875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10024875</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80170-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10024875">Dell'Angelica et al. (1999)</a> identified a mutant beta-3A subunit of AP3 in 2 brothers with HPS, supporting the proposal that the pearl mutation of mice is a model for HPS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6600521+10024875+9931340" 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="#17" class="mim-tip-reference" title="Zhen, L., Jiang, S., Feng, L., Bright, N. A., Peden, A. A., Seymour, A. B., Novak, E. K., Elliott, R., Gorin, M. B., Robinson, M. S., Swank, R. T. <strong>Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse.</strong> Blood 94: 146-155, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10381507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10381507</a>]" pmid="10381507">Zhen et al. (1999)</a> found that the beta-3A subunit was undetectable in all cells and tissues of the pearl mouse. In addition, expression of other subunit proteins of the AP3 complex was decreased. The subcellular distribution of the remaining AP3 subunits in platelets, macrophages, and a melanocyte-derived cell line of pearl mice was changed from the normal punctate, probably endosomal, pattern to a diffuse cytoplasmic pattern. Ultrastructural abnormalities in mutant lysosomes were likewise apparent in mutant kidney and a cultured mutant cell line. Five other mouse models of Hermansky-Pudlak syndrome were found to have normal expression of AP3 subunits, indicating genetic heterogeneity comparable to that found in the human. In contrast, another mouse HPS-like mutant, mocha, contains mutations in the delta subunit of the AP3 complex (AP3D1; <a href="/entry/607246">607246</a>) together with decreased expression of the other AP3 complex proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10381507" 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>To test for in vivo interactions between the HPS1 and HPS2 genes in the production and function of intracellular organelles, <a href="#8" class="mim-tip-reference" title="Feng, L., Novak, E. K., Hartnell, L. M., Bonifacino, J. S., Collinson, L. M., Swank, R. T. <strong>The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes.</strong> Blood 99: 1651-1658, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11861280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11861280</a>]" pmid="11861280">Feng et al. (2002)</a> created mice doubly heterozygous for the 2 mutant genes by appropriate breeding. Cooperation between the 2 genes in melanosome production was evident in increased hypopigmentation of the coat together with dramatic quantitative and qualitative alterations of melanosomes of the retinal pigment epithelium and choroid of double-mutant mice. Lysosomal and platelet dense granule abnormalities, including hyposecretion of lysosomal enzymes from kidneys and depression of serotonin concentrations of platelet dense granules were likewise more severe in double than in single mutants. Also, lysosomal enzyme concentrations were significantly increased in lungs of double-mutant mice. Interaction between the 2 genes was specific in that effects on organelles were confined to melanosomes, lysosomes, and platelet dense granules. Together, the evidence indicated that these 2 HPS genes function largely independently at the whole-organism level to affect the production and function of all 3 organelles. Furthermore, the increased lysosomal enzyme levels in lung of double-mutant mice suggested a cause of a major clinical problem of Hermansky-Pudlak syndrome, lung fibrosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11861280" 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>Cyclic hematopoiesis is a stem cell disease in which the number of neutrophils and other blood cells oscillates in weekly phases. Autosomal dominant mutations of neutrophil elastase (ELA2; <a href="/entry/130130">130130</a>), found in lysosome-like granules, cause cyclic hematopoiesis and most cases of the pre-leukemic disorder severe congenital neutropenia (SCN; <a href="/entry/202700">202700</a>) in humans. A similar autosomal recessive disease of dogs, canine cyclic hematopoiesis (<a href="#13" class="mim-tip-reference" title="Lothrop, C. D., Jr., Coulson, P. A., Nolan, H. L., Cole, B., Jones, J. B., Sanders, W. L. <strong>Cyclic hormonogenesis in gray collie dogs: interactions of hematopoietic and endocrine systems.</strong> Endocrinology 120: 1027-1032, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3026784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3026784</a>] [<a href="https://doi.org/10.1210/endo-120-3-1027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3026784">Lothrop et al., 1987</a>), is not caused by mutations in ELA2. Canine cyclic hematopoiesis is also known an gray collie syndrome because it arose in this breed and affected dogs have hypopigmented coats; the disorder resembles human Hermansky-Pudlak syndrome type 2. <a href="#2" class="mim-tip-reference" title="Benson, K. F., Li, F.-Q., Person, R. E., Albani, D., Duan, Z., Wechsler, J., Meade-White, K., Williams, K., Acland, G. M., Niemeyer, G., Lothrop, C. D., Horwitz, M. <strong>Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.</strong> Nature Genet. 35: 90-96, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12897784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12897784</a>] [<a href="https://doi.org/10.1038/ng1224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12897784">Benson et al. (2003)</a> showed that homozygous mutation of the AP3B1 gene, which directs trans-Golgi export of transmembrane cargo proteins to lysosomes, causes canine cyclic hematopoiesis. C-terminal processing of neutrophil elastase exposes an AP3 interaction signal responsible for redirecting neutrophil elastase trafficking from membranes to granules. Disruption of either neutrophil elastase or AP3 perturbs the intracellular trafficking of neutrophil elastase. Most mutations in ELA2 that cause human cyclic hematopoiesis prevent membrane localization of neutrophil elastase, whereas most mutations in ELA2 that cause SCN lead to exclusive membrane localization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12897784+3026784" 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="Dell'Angelica, E. C., Shotelersuk, V., Aguilar, R. C., Gahl, W. A., Bonifacino, J. S. <strong>Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta-3A subunit of the AP-3 adaptor.</strong> Molec. Cell 3: 11-21, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10024875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10024875</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80170-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10024875">Dell'Angelica et al. (1999)</a> described a 63-bp deletion in 1 allele of the beta-3A-adaptin cDNA sequence in 2 affected members of a family with Hermansky-Pudlak syndrome-2 (HPS2; <a href="/entry/608233">608233</a>). The other allele had a leu540-to-arg substitution (L540R; <a href="#0002">603401.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10024875" 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="Dell'Angelica, E. C., Shotelersuk, V., Aguilar, R. C., Gahl, W. A., Bonifacino, J. S. <strong>Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta-3A subunit of the AP-3 adaptor.</strong> Molec. Cell 3: 11-21, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10024875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10024875</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80170-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10024875">Dell'Angelica et al. (1999)</a> described a CTT-to-CGT substitution at codon 540 of 1 allele of the beta-3A-adaptin cDNA sequence, resulting in a leu540-to-arg (L540R) substitution in 2 affected members of a family with Hermansky-Pudlak syndrome-2 (HPS2; <a href="/entry/608233">608233</a>). The other allele had a 63-bp deletion (<a href="#0001">603401.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10024875" 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 patient with Hermansky-Pudlak syndrome-2 (HPS2; <a href="/entry/608233">608233</a>), <a href="#3" class="mim-tip-reference" title="Clark, R. H., Stinchcombe, J. C., Day, A., Blott, E., Booth, S., Bossi, G., Hamblin, T., Davies, E. G., Griffiths, G. M. <strong>Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse.</strong> Nature Immun. 4: 1111-1120, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14566336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14566336</a>] [<a href="https://doi.org/10.1038/ni1000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14566336">Clark et al. (2003)</a> identified compound heterozygosity for mutations in the AP3B1 gene. One mutation was a 1-bp insertion (G) at nucleotide 1618 in exon 15, resulting in a frameshift and premature stop codon at position 565. The other mutation was a T-to-C transition at position +6 of the splice site in intron 14 (<a href="#0004">603401.0004</a>), leading to a 39-bp insertion and the introduction of a stop codon at amino acid 496. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14566336" 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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AP3B1, IVS14DS, T-C, +6
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1000881595 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1000881595;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=rs1000881595" 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=rs1000881595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006746" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006746" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006746</a>
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<p>For discussion of the splice site mutation in the AP3B1 gene that was found in compound heterozygous state in a patient with Hermansky-Pudlak syndrome-2 (HPS2; <a href="/entry/608233">608233</a>) by <a href="#3" class="mim-tip-reference" title="Clark, R. H., Stinchcombe, J. C., Day, A., Blott, E., Booth, S., Bossi, G., Hamblin, T., Davies, E. G., Griffiths, G. M. <strong>Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse.</strong> Nature Immun. 4: 1111-1120, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14566336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14566336</a>] [<a href="https://doi.org/10.1038/ni1000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14566336">Clark et al. (2003)</a>, see <a href="#0003">603401.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14566336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 HERMANSKY-PUDLAK SYNDROME 2</strong>
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AP3B1, EX15DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006747" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006747" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006747</a>
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<p><a href="#12" class="mim-tip-reference" title="Kotzot, D., Richter, K., Gierth-Fiebig, K. <strong>Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?</strong> Am. J. Med. Genet. 50: 224-227, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8042664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8042664</a>] [<a href="https://doi.org/10.1002/ajmg.1320500303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8042664">Kotzot et al. (1994)</a> described an inbred Turkish family in which a boy and a girl related as first cousins, and in each case the offspring of consanguineous parents, had tyrosinase-positive oculocutaneous albinism, recurrent bacterial infections, granulocytopenia, intermittent thrombocytopenia, microcephaly, protruding midface, rough and projecting hair, and mild mental retardation (HPS2; <a href="/entry/608233">608233</a>). Using genetic linkage analysis and targeted gene sequencing, <a href="#11" class="mim-tip-reference" title="Jung, J., Bohn, G., Allroth, A., Boztug, K., Brandes, G., Sandrock, I., Schaffer, A. A., Rathinam, C., Kollner, I., Beger, C., Schilke, R., Welte, K., Grimbacher, B., Klein, C. <strong>Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.</strong> Blood 108: 362-369, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16537806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16537806</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16537806[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/10.1182/blood-2005-11-4377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16537806">Jung et al. (2006)</a> defined a homozygous genomic deletion in AP3B1. The mutation led to in-frame skipping of exon 15 and thus perturbed proper assembly of the heterotetrameric AP3 complex. Despite distinct ultramorphologic changes suggestive of aberrant vesicular maturation, no functional aberrations were detected in neutrophil granulocytes. However, a comprehensive immunologic assessment revealed that natural killer (NK) and NKT-cell numbers were reduced in the AP3-deficient patients. The findings extended the clinical and molecular phenotype of human AP3 deficiency and provided insight into the role of the AP3 complex for the innate immune system. The deleted interval spanned 8,168 bp, including a large part of intron 14, the complete exon 15, and a small part of intron 15. Loss of exon 15 resulted in the absence of amino acid 49 to 550 while preserving the reading frame. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16537806+8042664" 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 id="0006" class="mim-anchor"></a>
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<strong>.0006 HERMANSKY-PUDLAK SYNDROME 2</strong>
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AP3B1, ARG302TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908905 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908905;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908905?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908905" 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=rs121908905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006748" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006748" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006748</a>
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<p>In a patient with Hermansky-Pudlak syndrome-2 (HPS2; <a href="/entry/608233">608233</a>), <a href="#7" class="mim-tip-reference" title="Enders, A., Zieger, B., Schwarz, K., Yoshimi, A., Speckmann, C., Knoepfle, E.-M., Kontny, U., Muller, C., Nurden, A., Rohr, J., Henschen, M., Pannicke, U., Niemeyer, C., Nurden, P., Ehl, S. <strong>Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.</strong> Blood 108: 81-87, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16551969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16551969</a>] [<a href="https://doi.org/10.1182/blood-2005-11-4413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16551969">Enders et al. (2006)</a> identified a homozygous c.1029A-T transversion (c.1029A-T, NM_003664) in exon 8 of the AP3B1 gene, resulting in an arg302-to-ter (R302X) substitution. Both parents were heterozygous for the mutation. The patient later developed lethal hemophagocytic lymphohistiocytosis (HLH, see <a href="/entry/267700">267700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16551969" 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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<span class="mim-font">
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<strong>.0007 HERMANSKY-PUDLAK SYNDROME 2</strong>
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AP3B1, ARG509TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908906 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908906;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=rs121908906" 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=rs121908906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006749" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006749" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006749</a>
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<p>In a child of Native American origin with Hermansky-Pudlak syndrome-2 (HPS2; <a href="/entry/608233">608233</a>), <a href="#10" class="mim-tip-reference" title="Huizing, M., Scher, C. D., Strovel, E., Fitzpatrick, D. L., Hartnell, L. M., Anikster, Y., Gahl, W. A. <strong>Nonsense mutations in ADTB3A cause complete deficiency of the beta-3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.</strong> Pediat. Res. 51: 150-158, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11809908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11809908</a>] [<a href="https://doi.org/10.1203/00006450-200202000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11809908">Huizing et al. (2002)</a> identified compound heterozygosity for 2 mutations in the AP3B1 gene: a c.1578C-T transition in exon 15 resulting in an arg509-to-ter (R509X) substitution, and a c.2028G-T transversion in exon 18 resulting in a glu659-to-ter (E659X; <a href="#0008">603401.0008</a>) substitution. Northern blot analysis detected no AP3B1 mRNA transcripts in the patient's cells, suggestive of nonsense-mediated mRNA decay. The child had a severe phenotype with neutropenia, recurrent bacterial infections, dysmorphic facies, oculocutaneous albinism, and developmental delay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11809908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 HERMANSKY-PUDLAK SYNDROME 2</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">rs121908907 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908907;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=rs121908907" 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=rs121908907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006750" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006750" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006750</a>
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<p>For discussion of the glu659-to-ter (E659X) mutation in the AP3B1 gene that was found in compound heterozygous state in a patient with Hermansky-Pudlak syndrome-2 (HPS2; <a href="/entry/608233">608233</a>) by <a href="#10" class="mim-tip-reference" title="Huizing, M., Scher, C. D., Strovel, E., Fitzpatrick, D. L., Hartnell, L. M., Anikster, Y., Gahl, W. A. <strong>Nonsense mutations in ADTB3A cause complete deficiency of the beta-3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.</strong> Pediat. Res. 51: 150-158, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11809908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11809908</a>] [<a href="https://doi.org/10.1203/00006450-200202000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11809908">Huizing et al. (2002)</a>, see <a href="#0007">603401.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11809908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Balkema1983" class="mim-anchor"></a>
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Balkema, G. W., Mangini, N. J., Pinto, L. H.
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<strong>Discrete visual defects in pearl mutant mice.</strong>
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Science 219: 1085-1087, 1983.
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 11/2/2010
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/3/2006<br>Victor A. McKusick - updated : 9/28/2006<br>Paul J. Converse - updated : 11/6/2003<br>Victor A. McKusick - updated : 8/21/2003<br>Victor A. McKusick - updated : 5/3/2002<br>Victor A. McKusick - updated : 2/11/2002<br>Wilson H. Y. Lo - updated : 12/6/1999<br>Victor A. McKusick - updated : 11/23/1999<br>Victor A. McKusick - updated : 3/9/1999<br>Stylianos E. Antonarakis - updated : 2/23/1999
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<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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Sheryl A. Jankowski : 1/5/1999
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 09/12/2024
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<span class="mim-text-font">
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carol : 06/26/2024<br>alopez : 09/30/2019<br>mcolton : 06/11/2015<br>alopez : 11/9/2010<br>terry : 11/2/2010<br>carol : 10/3/2006<br>ckniffin : 10/3/2006<br>carol : 10/3/2006<br>ckniffin : 10/3/2006<br>terry : 9/28/2006<br>wwang : 8/31/2006<br>alopez : 11/7/2003<br>mgross : 11/7/2003<br>mgross : 11/6/2003<br>mgross : 11/6/2003<br>alopez : 9/2/2003<br>alopez : 8/22/2003<br>terry : 8/21/2003<br>carol : 3/13/2003<br>terry : 3/12/2003<br>mgross : 9/20/2002<br>alopez : 5/3/2002<br>alopez : 5/3/2002<br>alopez : 2/11/2002<br>terry : 2/11/2002<br>alopez : 7/16/2001<br>alopez : 6/22/2000<br>mgross : 12/20/1999<br>mgross : 12/15/1999<br>carol : 12/6/1999<br>mgross : 11/23/1999<br>terry : 6/9/1999<br>terry : 3/9/1999<br>terry : 3/9/1999<br>carol : 2/23/1999<br>carol : 2/23/1999<br>psherman : 1/5/1999
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603401
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<h3>
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ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1
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</h3>
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<br />
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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, BETA-3A; ADTB3A<br />
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HPS2 GENE; HPS2<br />
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PEARL, MOUSE, HOMOLOG OF; PE
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: AP3B1</em></strong>
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</span>
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<strong>
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<em>
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Cytogenetic location: 5q14.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:78,000,522-78,294,698 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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</th>
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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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5q14.1
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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 2
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</span>
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</td>
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<span class="mim-font">
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608233
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<span class="mim-font">
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Autosomal recessive
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</span>
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<span class="mim-font">
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3
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The AP3B1 gene encodes the large B1 subunit of the adaptor-related protein complex-3, a heterotetrameric complex involved in protein trafficking to lysosomes or specialized endosomal-lysosomal organelles such as pigment granules, melanosomes, and platelet dense granules (Dell'Angelica et al., 1998). </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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<span class="mim-text-font">
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<p>Dell'Angelica et al. (1997) cloned a cDNA encoding the 140-kD subunit of AP3, named beta-3A-adaptin, by its homology to beta-NAP (602166). The 1,094-amino acid beta-3A-adaptin protein shares 61% identity with beta-NAP and is also related to the beta-1- (AP1B1; 600157) and beta-2-adaptin (AP2B1; 601025) subunits of complexes AP1 and AP2, respectively. The central hydrophilic region of beta-3A-adaptin is rich in acidic and serine residues and contains many potential sites for phosphorylation; the authors demonstrated that beta-3A-adaptin is phosphorylated in vivo on serine residues. Northern blot analysis detected an approximately 4.2-kb transcript in all human tissues examined and in nonneuronal and neuronal cell lines. </p><p>Independently, Simpson et al. (1997) cloned a beta-3A-adaptin cDNA which encodes a 1,093-amino acid protein. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Huizing et al. (2002) determined that the AP3B1 gene contains 27 exons. </p>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Stumpf (2024) mapped the AP3B1 gene to chromosome 5q14.1 based on an alignment of the AP3B1 sequence (GenBank BC038444) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dell'Angelica et al. (1998) demonstrated that mammalian AP3 adaptor complex associated with clathrin by interaction of the appendage domain of the AP3B1 protein with the amino-terminal domain of the clathrin heavy chain (CLTC; 118955). </p><p>Sasai et al. (2010) identified adaptor protein-3 as the protein complex responsible for the trafficking of Toll-like receptor-9 (TLR9; 605474) from endosomes to a specialized lysosome-related organelle. This trafficking is required for the activation of type I IFN (147660) by TLR9. Sasai et al. (2010) concluded that their results revealed an intracellular mechanism for bifurcation of TLR9 signals by selective receptor trafficking within the endosomal system. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 2 patients with Hermansky-Pudlak syndrome-2 (HPS2; 608233), Dell'Angelica et al. (1999) identified mutations in the AP3B1 gene (603401.0001-603401.0002). The patients' fibroblasts exhibited drastically reduced levels of AP3 due to enhanced degradation of mutant beta-3A. The AP3 deficiency resulted in increased surface expression of the lysosomal membrane proteins CD63 (155740), LAMP1 (153330), and LAMP2 (309060), but not of nonlysosomal proteins. These differential effects are consistent with the preferential interaction of the AP3 mu-3A subunit with tyrosine-based signals involved in lysosomal targeting. Dell'Angelica et al. (1999) suggested that AP3 functions in protein sorting to lysosomes and that HPS provides an example of a human disease in which altered trafficking of integral membrane proteins is due to mutations in a component of the sorting machinery. </p><p>Clark et al. (2003) found that CD8 (see 186910)-positive cytotoxic T lymphocytes (CTLs) from an immunodeficient HPS patient lacked the beta-3A, gamma, and mu-3A subunits of AP3, consistent with HPS2. By PCR analysis, they identified compound heterozygosity for mutations in the AP3B1 gene. Clark et al. (2003) determined that AP3 deficiency results in loss of microtubule-mediated movement of enlarged perforin- and granzyme-containing lytic granules toward the immunologic synapse and a profound loss of CTL-mediated killing. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The autosomal recessive mouse mutation 'pearl' (pe) maps to distal mouse chromosome 13. Pearl mice have been thought to be appropriate models for HPS because they exhibit hypopigmentation, lysosomal secretion abnormalities, and platelet-dense granules with reduced levels of adenine nucleotides and serotonin. The changes in platelets lead to prolonged bleeding. Additionally, pearl mice exhibit reduced sensitivity in the dark-adapted state, suggesting a model for human congenital stationary night blindness (Balkema et al., 1983). The adaptor-related coat complex, termed AP3, likely facilitates trafficking of vesicles from the trans-Golgi network and/or endosomal compartments by interacting with tyrosine and dileucine signals on proteins of lysosomes and other intracellular organelles. AP3 is heterotetrameric, containing 2 large subunits, delta- and beta-3, a medium-sized subunit, mu-3, and a small subunit, sigma-3. Feng et al. (1999) reported positional/candidate cloning of the pearl gene and presented evidence from mutation analysis that the primary pearl gene defect is in the Ap3b1 gene, which encodes the beta-3A subunit of the AP3 adaptor complex. Mutations in 2 different pearl alleles, including a large internal tandem duplication and a deletion, were predicted to abrogate function of the beta-3A protein. Significantly lowered expression of altered beta-3A transcripts occurred in kidney of both mutant alleles. Dell'Angelica et al. (1999) identified a mutant beta-3A subunit of AP3 in 2 brothers with HPS, supporting the proposal that the pearl mutation of mice is a model for HPS. </p><p>Zhen et al. (1999) found that the beta-3A subunit was undetectable in all cells and tissues of the pearl mouse. In addition, expression of other subunit proteins of the AP3 complex was decreased. The subcellular distribution of the remaining AP3 subunits in platelets, macrophages, and a melanocyte-derived cell line of pearl mice was changed from the normal punctate, probably endosomal, pattern to a diffuse cytoplasmic pattern. Ultrastructural abnormalities in mutant lysosomes were likewise apparent in mutant kidney and a cultured mutant cell line. Five other mouse models of Hermansky-Pudlak syndrome were found to have normal expression of AP3 subunits, indicating genetic heterogeneity comparable to that found in the human. In contrast, another mouse HPS-like mutant, mocha, contains mutations in the delta subunit of the AP3 complex (AP3D1; 607246) together with decreased expression of the other AP3 complex proteins. </p><p>To test for in vivo interactions between the HPS1 and HPS2 genes in the production and function of intracellular organelles, Feng et al. (2002) created mice doubly heterozygous for the 2 mutant genes by appropriate breeding. Cooperation between the 2 genes in melanosome production was evident in increased hypopigmentation of the coat together with dramatic quantitative and qualitative alterations of melanosomes of the retinal pigment epithelium and choroid of double-mutant mice. Lysosomal and platelet dense granule abnormalities, including hyposecretion of lysosomal enzymes from kidneys and depression of serotonin concentrations of platelet dense granules were likewise more severe in double than in single mutants. Also, lysosomal enzyme concentrations were significantly increased in lungs of double-mutant mice. Interaction between the 2 genes was specific in that effects on organelles were confined to melanosomes, lysosomes, and platelet dense granules. Together, the evidence indicated that these 2 HPS genes function largely independently at the whole-organism level to affect the production and function of all 3 organelles. Furthermore, the increased lysosomal enzyme levels in lung of double-mutant mice suggested a cause of a major clinical problem of Hermansky-Pudlak syndrome, lung fibrosis. </p><p>Cyclic hematopoiesis is a stem cell disease in which the number of neutrophils and other blood cells oscillates in weekly phases. Autosomal dominant mutations of neutrophil elastase (ELA2; 130130), found in lysosome-like granules, cause cyclic hematopoiesis and most cases of the pre-leukemic disorder severe congenital neutropenia (SCN; 202700) in humans. A similar autosomal recessive disease of dogs, canine cyclic hematopoiesis (Lothrop et al., 1987), is not caused by mutations in ELA2. Canine cyclic hematopoiesis is also known an gray collie syndrome because it arose in this breed and affected dogs have hypopigmented coats; the disorder resembles human Hermansky-Pudlak syndrome type 2. Benson et al. (2003) showed that homozygous mutation of the AP3B1 gene, which directs trans-Golgi export of transmembrane cargo proteins to lysosomes, causes canine cyclic hematopoiesis. C-terminal processing of neutrophil elastase exposes an AP3 interaction signal responsible for redirecting neutrophil elastase trafficking from membranes to granules. Disruption of either neutrophil elastase or AP3 perturbs the intracellular trafficking of neutrophil elastase. Most mutations in ELA2 that cause human cyclic hematopoiesis prevent membrane localization of neutrophil elastase, whereas most mutations in ELA2 that cause SCN lead to exclusive membrane localization. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>8 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 HERMANSKY-PUDLAK SYNDROME 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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AP3B1, 63-BP DEL
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<br />
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ClinVar: RCV000006743
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Dell'Angelica et al. (1999) described a 63-bp deletion in 1 allele of the beta-3A-adaptin cDNA sequence in 2 affected members of a family with Hermansky-Pudlak syndrome-2 (HPS2; 608233). The other allele had a leu540-to-arg substitution (L540R; 603401.0002). </p>
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</span>
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</div>
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<div>
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<br />
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 HERMANSKY-PUDLAK SYNDROME 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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AP3B1, LEU540ARG
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<br />
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SNP: rs121908904,
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ClinVar: RCV000006744
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Dell'Angelica et al. (1999) described a CTT-to-CGT substitution at codon 540 of 1 allele of the beta-3A-adaptin cDNA sequence, resulting in a leu540-to-arg (L540R) substitution in 2 affected members of a family with Hermansky-Pudlak syndrome-2 (HPS2; 608233). The other allele had a 63-bp deletion (603401.0001). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0003 HERMANSKY-PUDLAK SYNDROME 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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AP3B1, 1-BP INS, 1618G
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<br />
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SNP: rs1753129765,
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ClinVar: RCV001383893
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a patient with Hermansky-Pudlak syndrome-2 (HPS2; 608233), Clark et al. (2003) identified compound heterozygosity for mutations in the AP3B1 gene. One mutation was a 1-bp insertion (G) at nucleotide 1618 in exon 15, resulting in a frameshift and premature stop codon at position 565. The other mutation was a T-to-C transition at position +6 of the splice site in intron 14 (603401.0004), leading to a 39-bp insertion and the introduction of a stop codon at amino acid 496. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0004 HERMANSKY-PUDLAK SYNDROME 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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AP3B1, IVS14DS, T-C, +6
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<br />
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SNP: rs1000881595,
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ClinVar: RCV000006746
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the AP3B1 gene that was found in compound heterozygous state in a patient with Hermansky-Pudlak syndrome-2 (HPS2; 608233) by Clark et al. (2003), see 603401.0003. </p>
|
|
</span>
|
|
</div>
|
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 HERMANSKY-PUDLAK SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
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|
AP3B1, EX15DEL
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<br />
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|
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ClinVar: RCV000006747
|
|
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>Kotzot et al. (1994) described an inbred Turkish family in which a boy and a girl related as first cousins, and in each case the offspring of consanguineous parents, had tyrosinase-positive oculocutaneous albinism, recurrent bacterial infections, granulocytopenia, intermittent thrombocytopenia, microcephaly, protruding midface, rough and projecting hair, and mild mental retardation (HPS2; 608233). Using genetic linkage analysis and targeted gene sequencing, Jung et al. (2006) defined a homozygous genomic deletion in AP3B1. The mutation led to in-frame skipping of exon 15 and thus perturbed proper assembly of the heterotetrameric AP3 complex. Despite distinct ultramorphologic changes suggestive of aberrant vesicular maturation, no functional aberrations were detected in neutrophil granulocytes. However, a comprehensive immunologic assessment revealed that natural killer (NK) and NKT-cell numbers were reduced in the AP3-deficient patients. The findings extended the clinical and molecular phenotype of human AP3 deficiency and provided insight into the role of the AP3 complex for the innate immune system. The deleted interval spanned 8,168 bp, including a large part of intron 14, the complete exon 15, and a small part of intron 15. Loss of exon 15 resulted in the absence of amino acid 49 to 550 while preserving the reading frame. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 HERMANSKY-PUDLAK SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
|
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AP3B1, ARG302TER
|
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<br />
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|
|
SNP: rs121908905,
|
|
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|
|
|
gnomAD: rs121908905,
|
|
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|
|
|
ClinVar: RCV000006748
|
|
|
|
|
|
</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Hermansky-Pudlak syndrome-2 (HPS2; 608233), Enders et al. (2006) identified a homozygous c.1029A-T transversion (c.1029A-T, NM_003664) in exon 8 of the AP3B1 gene, resulting in an arg302-to-ter (R302X) substitution. Both parents were heterozygous for the mutation. The patient later developed lethal hemophagocytic lymphohistiocytosis (HLH, see 267700). </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HERMANSKY-PUDLAK SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AP3B1, ARG509TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908906,
|
|
|
|
|
|
|
|
ClinVar: RCV000006749
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a child of Native American origin with Hermansky-Pudlak syndrome-2 (HPS2; 608233), Huizing et al. (2002) identified compound heterozygosity for 2 mutations in the AP3B1 gene: a c.1578C-T transition in exon 15 resulting in an arg509-to-ter (R509X) substitution, and a c.2028G-T transversion in exon 18 resulting in a glu659-to-ter (E659X; 603401.0008) substitution. Northern blot analysis detected no AP3B1 mRNA transcripts in the patient's cells, suggestive of nonsense-mediated mRNA decay. The child had a severe phenotype with neutropenia, recurrent bacterial infections, dysmorphic facies, oculocutaneous albinism, and developmental delay. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 HERMANSKY-PUDLAK SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AP3B1, GLU659TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908907,
|
|
|
|
|
|
|
|
ClinVar: RCV000006750
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the glu659-to-ter (E659X) mutation in the AP3B1 gene that was found in compound heterozygous state in a patient with Hermansky-Pudlak syndrome-2 (HPS2; 608233) by Huizing et al. (2002), see 603401.0007. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
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|
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|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
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|
<li>
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<p class="mim-text-font">
|
|
Balkema, G. W., Mangini, N. J., Pinto, L. H.
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|
<strong>Discrete visual defects in pearl mutant mice.</strong>
|
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Science 219: 1085-1087, 1983.
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[PubMed: 6600521]
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[Full Text: https://doi.org/10.1126/science.6600521]
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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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Benson, K. F., Li, F.-Q., Person, R. E., Albani, D., Duan, Z., Wechsler, J., Meade-White, K., Williams, K., Acland, G. M., Niemeyer, G., Lothrop, C. D., Horwitz, M.
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<strong>Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.</strong>
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Nature Genet. 35: 90-96, 2003.
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Clark, R. H., Stinchcombe, J. C., Day, A., Blott, E., Booth, S., Bossi, G., Hamblin, T., Davies, E. G., Griffiths, G. M.
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<strong>Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse.</strong>
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Nature Immun. 4: 1111-1120, 2003.
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[PubMed: 14566336]
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<p class="mim-text-font">
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Dell'Angelica, E. C., Klumperman, J., Stoorvogel, W., Bonifacino, J. S.
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<strong>Association of the AP-3 adaptor complex with clathrin.</strong>
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Science 280: 431-434, 1998.
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[PubMed: 9545220]
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[Full Text: https://doi.org/10.1126/science.280.5362.431]
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</p>
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<p class="mim-text-font">
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Dell'Angelica, E. C., Ooi, C. E., Bonifacino, J. S.
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<strong>Beta-3A-adaptin, a subunit of the adaptor-like complex AP-3.</strong>
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J. Biol. Chem. 272: 15078-15084, 1997.
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[PubMed: 9182526]
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[Full Text: https://doi.org/10.1074/jbc.272.24.15078]
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</p>
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<li>
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<p class="mim-text-font">
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Dell'Angelica, E. C., Shotelersuk, V., Aguilar, R. C., Gahl, W. A., Bonifacino, J. S.
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<strong>Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta-3A subunit of the AP-3 adaptor.</strong>
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Molec. Cell 3: 11-21, 1999.
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[PubMed: 10024875]
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[Full Text: https://doi.org/10.1016/s1097-2765(00)80170-7]
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</p>
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<li>
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<p class="mim-text-font">
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Enders, A., Zieger, B., Schwarz, K., Yoshimi, A., Speckmann, C., Knoepfle, E.-M., Kontny, U., Muller, C., Nurden, A., Rohr, J., Henschen, M., Pannicke, U., Niemeyer, C., Nurden, P., Ehl, S.
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<strong>Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.</strong>
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Blood 108: 81-87, 2006.
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[PubMed: 16551969]
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[Full Text: https://doi.org/10.1182/blood-2005-11-4413]
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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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Feng, L., Novak, E. K., Hartnell, L. M., Bonifacino, J. S., Collinson, L. M., Swank, R. T.
|
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<strong>The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes.</strong>
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Blood 99: 1651-1658, 2002.
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[PubMed: 11861280]
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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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Feng, L., Seymour, A. B., Jiang, S., To, A., Peden, A. A., Novak, E. K., Zhen, L., Rusiniak, M. E., Eicher, E. M., Robinson, M. S., Gorin, M. B., Swank, R. T.
|
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<strong>The beta-3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness.</strong>
|
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Hum. Molec. Genet. 8: 323-330, 1999.
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[PubMed: 9931340]
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[Full Text: https://doi.org/10.1093/hmg/8.2.323]
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</p>
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<li>
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<p class="mim-text-font">
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Huizing, M., Scher, C. D., Strovel, E., Fitzpatrick, D. L., Hartnell, L. M., Anikster, Y., Gahl, W. A.
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<strong>Nonsense mutations in ADTB3A cause complete deficiency of the beta-3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.</strong>
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Pediat. Res. 51: 150-158, 2002.
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[PubMed: 11809908]
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[Full Text: https://doi.org/10.1203/00006450-200202000-00006]
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</p>
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<li>
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<p class="mim-text-font">
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Jung, J., Bohn, G., Allroth, A., Boztug, K., Brandes, G., Sandrock, I., Schaffer, A. A., Rathinam, C., Kollner, I., Beger, C., Schilke, R., Welte, K., Grimbacher, B., Klein, C.
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<strong>Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.</strong>
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Blood 108: 362-369, 2006.
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[PubMed: 16537806]
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[Full Text: https://doi.org/10.1182/blood-2005-11-4377]
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<p class="mim-text-font">
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Kotzot, D., Richter, K., Gierth-Fiebig, K.
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<strong>Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?</strong>
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Am. J. Med. Genet. 50: 224-227, 1994.
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[PubMed: 8042664]
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[Full Text: https://doi.org/10.1002/ajmg.1320500303]
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</p>
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<li>
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<p class="mim-text-font">
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Lothrop, C. D., Jr., Coulson, P. A., Nolan, H. L., Cole, B., Jones, J. B., Sanders, W. L.
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<strong>Cyclic hormonogenesis in gray collie dogs: interactions of hematopoietic and endocrine systems.</strong>
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Endocrinology 120: 1027-1032, 1987.
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[PubMed: 3026784]
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[Full Text: https://doi.org/10.1210/endo-120-3-1027]
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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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Sasai, M., Linehan, M. M., Iwasaki, A.
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<strong>Bifurcation of Toll-like receptor 9 signaling by adaptor protein 3.</strong>
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Science 329: 1530-1534, 2010.
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[PubMed: 20847273]
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[Full Text: https://doi.org/10.1126/science.1187029]
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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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</p>
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<li>
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|
<p class="mim-text-font">
|
|
Stumpf, A. M.
|
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<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 09/12/2024.
|
|
|
|
</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
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Zhen, L., Jiang, S., Feng, L., Bright, N. A., Peden, A. A., Seymour, A. B., Novak, E. K., Elliott, R., Gorin, M. B., Robinson, M. S., Swank, R. T.
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<strong>Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse.</strong>
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Blood 94: 146-155, 1999.
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[PubMed: 10381507]
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Ada Hamosh - updated : 11/2/2010<br>Cassandra L. Kniffin - updated : 10/3/2006<br>Victor A. McKusick - updated : 9/28/2006<br>Paul J. Converse - updated : 11/6/2003<br>Victor A. McKusick - updated : 8/21/2003<br>Victor A. McKusick - updated : 5/3/2002<br>Victor A. McKusick - updated : 2/11/2002<br>Wilson H. Y. Lo - updated : 12/6/1999<br>Victor A. McKusick - updated : 11/23/1999<br>Victor A. McKusick - updated : 3/9/1999<br>Stylianos E. Antonarakis - updated : 2/23/1999
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Sheryl A. Jankowski : 1/5/1999
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