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- *604310 - BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 6; BLOC1S6
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- OMIM
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<p>
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<span class="h4">*604310</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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<li role="presentation" style="margin-left: 1em">
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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="#history">History</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/604310">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000104164;t=ENST00000220531" 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=26258" 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=604310" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</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=ENSG00000104164;t=ENST00000220531" 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_001311255,NM_001311256,NM_012388,NR_132350,NR_132351,NR_132352,NR_132353,NR_132354,NR_132355,NR_132356,NR_132357,NR_132358,NR_132359" 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_012388" 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=604310" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=16055&isoform_id=16055_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/BLOC1S6" 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/6434857,6912574,13435969,41017511,119597736,189054970,193785915,910749460,910749463" 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/Q9UL45" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=26258" 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=ENSG00000104164;t=ENST00000220531" 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=BLOC1S6" 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=BLOC1S6" 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+26258" 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/BLOC1S6" 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:26258" 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/26258" 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=chr15&hgg_gene=ENST00000220531.9&hgg_start=45587123&hgg_end=45609716&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:8549" 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=604310[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 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=604310[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000104164" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=BLOC1S6" 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=BLOC1S6" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=BLOC1S6&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/PA33398" 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:8549" 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/FBgn0036192.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:1927580" 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/BLOC1S6#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:1927580" 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/26258/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=26258" 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://zfin.org/ZDB-GENE-070112-1862" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=BLOC1S6&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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604310
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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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BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 6; BLOC1S6
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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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BLOC1, SUBUNIT 6; BLOS6<br />
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PALLIDIN; PLDN<br />
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PA<br />
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PALLID, MOUSE, HOMOLOG OF<br />
|
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HPS9 GENE; HPS9
|
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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=BLOC1S6" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">BLOC1S6</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/15/185?start=-3&limit=10&highlight=185">15q21.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:45587123-45609716&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'})">15:45,587,123-45,609,716</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/15/185?start=-3&limit=10&highlight=185">
|
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15q21.1
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Hermansky-Pudlak syndrome 9
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
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<a href="/entry/614171"> 614171 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/604310" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/604310" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
|
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>The 'pallid' mouse mutant represents a platelet storage pool deficiency (SPD) manifesting with prolonged bleeding time, pigment dilution, and other features. <a href="#4" class="mim-tip-reference" title="Huang, L., Kuo, Y.-M., Gitschier, J. <strong>The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency.</strong> Nature Genet. 23: 329-332, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10610180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10610180</a>] [<a href="https://doi.org/10.1038/15507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10610180">Huang et al. (1999)</a> described the physical mapping, positional cloning, and mutational and functional analysis of the gene that is defective in pallid mice. The gene encodes a ubiquitously expressed, highly charged 172-amino acid protein, which they called pallidin, with no homology to known proteins. <a href="#4" class="mim-tip-reference" title="Huang, L., Kuo, Y.-M., Gitschier, J. <strong>The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency.</strong> Nature Genet. 23: 329-332, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10610180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10610180</a>] [<a href="https://doi.org/10.1038/15507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10610180">Huang et al. (1999)</a> isolated the orthologous gene encoding human pallidin and found that the predicted protein has 86% amino acid identity with the mouse protein. The first 60 amino acids give rise to an unstructured protein, followed by 2 highly alpha-helical coiled-coil regions, essential for pallidin self-binding and binding to syntaxin-13 (see STX12, <a href="/entry/606892">606892</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10610180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Cullinane, A. R., Curry, J. A., Carmona-Rivera, C., Summers, C. G., Ciccone, C., Cardillo, N. D., Dorward, H., Hess, R. A., White, J. G., Adams, D., Huizing, M., Gahl, W. A. <strong>A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9.</strong> Am. J. Hum. Genet. 88: 778-787, 2011. Note: Retraction. Am. J. Hum. Genet. 100: 837 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21665000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21665000</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.05.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21665000">Cullinane et al. (2011)</a> noted that PLDN transcript-1, which they called PLDN1, contains 172 amino acids and is encoded by exons 1 to 5. Transcript-2, which they called PLDN2, contains 101 amino acids and is encoded by exon A, exon 2, and exon B. PCR analysis of adult and fetal human tissues showed ubiquitous expression of transcript-1 except for absence in adult and fetal brain. Transcript-2 showed limited expression in adult brain, testis, and leukocytes, and in fetal lung, brain, and thymus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21665000" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Cullinane, A. R., Curry, J. A., Carmona-Rivera, C., Summers, C. G., Ciccone, C., Cardillo, N. D., Dorward, H., Hess, R. A., White, J. G., Adams, D., Huizing, M., Gahl, W. A. <strong>A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9.</strong> Am. J. Hum. Genet. 88: 778-787, 2011. Note: Retraction. Am. J. Hum. Genet. 100: 837 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21665000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21665000</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.05.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21665000">Cullinane et al. (2011)</a> determined that the PLDN gene contains 7 exons with alternative splicing of exons A and B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21665000" 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="Huang, L. <strong>Personal Communication.</strong> San Francisco, Calif. 2/3/2000."None>Huang (2000)</a> stated that ESTs of the human PLDN gene had been mapped to chromosome 15q15 by radiation hybrid mapping.</p><p>By ancestral chromosome mapping, <a href="#4" class="mim-tip-reference" title="Huang, L., Kuo, Y.-M., Gitschier, J. <strong>The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency.</strong> Nature Genet. 23: 329-332, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10610180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10610180</a>] [<a href="https://doi.org/10.1038/15507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10610180">Huang et al. (1999)</a> localized the mouse pallidin gene to chromosome 2E. The pallidin gene is closely linked to mouse Epb42 (<a href="/entry/177070">177070</a>) and B2m (<a href="/entry/109700">109700</a>), 68 cM from the centromere. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10610180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a yeast 2-hybrid screen, <a href="#4" class="mim-tip-reference" title="Huang, L., Kuo, Y.-M., Gitschier, J. <strong>The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency.</strong> Nature Genet. 23: 329-332, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10610180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10610180</a>] [<a href="https://doi.org/10.1038/15507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10610180">Huang et al. (1999)</a> discovered that pallidin interacts with syntaxin-13 (see STX12, <a href="/entry/606892">606892</a>), a t-SNARE protein that mediates vesicle docking and fusion. <a href="#4" class="mim-tip-reference" title="Huang, L., Kuo, Y.-M., Gitschier, J. <strong>The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency.</strong> Nature Genet. 23: 329-332, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10610180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10610180</a>] [<a href="https://doi.org/10.1038/15507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10610180">Huang et al. (1999)</a> confirmed this interaction by coimmunoprecipitation assay. Immunofluorescence studies corroborated that the cellular distribution of pallidin overlaps that of syntaxin-13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10610180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By coimmunoprecipitation and immunodepletion experiments of mouse skin fibroblasts, <a href="#3" class="mim-tip-reference" title="Falcon-Perez, J. M., Starcevic, M., Gautam, R., Dell'Angelica, E. C. <strong>BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules.</strong> J. Biol. Chem. 277: 28191-28199, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12019270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12019270</a>] [<a href="https://doi.org/10.1074/jbc.M204011200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12019270">Falcon-Perez et al. (2002)</a> identified pallidin as a component of BLOC1 (biogenesis of lysosome-related organelles complex-1; see <a href="/entry/601444">601444</a>), which also contains 'muted' (<a href="/entry/607289">607289</a>). A yeast 2-hybrid screen found no direct interaction between muted and pallidin, but pallidin was found to interact with itself. Residues that include 2 putative coiled-coil domains of human pallidin were necessary and sufficient for self-assembly. <a href="#3" class="mim-tip-reference" title="Falcon-Perez, J. M., Starcevic, M., Gautam, R., Dell'Angelica, E. C. <strong>BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules.</strong> J. Biol. Chem. 277: 28191-28199, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12019270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12019270</a>] [<a href="https://doi.org/10.1074/jbc.M204011200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12019270">Falcon-Perez et al. (2002)</a> also determined that pallidin/BLOC1 could interact with actin filaments in vitro and in transfected cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12019270" 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 17-year-old Italian girl with Hermansky-Pudlak syndrome-9 (HPS9; <a href="/entry/614171">614171</a>), with clinical features of oculocutaneous albinism, nystagmus, thrombocytopenia, and primary immunodeficiency, <a href="#1" class="mim-tip-reference" title="Badolato, R., Prandini, A., Caracciolo, S., Colombo, F., Tabellini, G., Giacomelli, M., Cantarini, M. E., Pession, A., Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Saunders, C. J., Zhang, L., Schroth, G. P., Plebani, A., Parolini, S., Kingsmore, S. F. <strong>Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. (Letter)</strong> Blood 119: 3185-3187, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22461475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22461475</a>] [<a href="https://doi.org/10.1182/blood-2012-01-404350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22461475">Badolato et al. (2012)</a> performed whole-exome sequencing (WES) and identified homozygosity for a gln78-to-ter mutation (Q78X; <a href="#0001">604310.0001</a>) in the PLDN gene; no mutations were found in other immunodeficiency-associated genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22461475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By WES in a 4-year-old Pakistani girl with HPS9, <a href="#9" class="mim-tip-reference" title="Yousaf, S., Shahzad, M., Kausar, T., Sheikh, S. A., Tariq, N., Shabbir, A. S., University of Washington Center for Mendelian Genomics, Ali, M., Waryah, A. M., Shaikh, R. S., Riazuddin, S., Ahmed, Z. M. <strong>Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.</strong> Pigment Cell Melanoma Res. 29: 231-235, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26575419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26575419</a>] [<a href="https://doi.org/10.1111/pcmr.12438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26575419">Yousaf et al. (2016)</a> identified homozygosity for the previously reported Q78X nonsense mutation in the BLOC1S6 gene. Her unaffected consanguineous parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26575419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 52-year-old Japanese woman with HPS9, <a href="#8" class="mim-tip-reference" title="Okamura, K., Abe, Y., Araki, Y., Wakamatsu, K., Seishima, M., Umetsu, T., Kato, A., Kawaguchi, M., Hayashi, M., Hozumi, Y., Suzuki, T. <strong>Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.</strong> Pigment Cell Melanoma Res. 31: 267-276, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29054114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29054114</a>] [<a href="https://doi.org/10.1111/pcmr.12662" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29054114">Okamura et al. (2018)</a> identified homozygosity for a 2-bp duplication in the BLOC1S6 gene (<a href="#0002">604310.0002</a>) that segregated with disease in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29054114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 2.5-year-old girl of Syrian origin with HPS9, <a href="#7" class="mim-tip-reference" title="Michaud, V., Fiore, M., Coste, V., Huguenin, Y., Bordet, J.-C., Plaisant, C., Lasseaux, E., Morice-Picard, F., Arveiler, B. <strong>A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.</strong> Platelets 32: 420-423, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32245340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32245340</a>] [<a href="https://doi.org/10.1080/09537104.2020.1742315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32245340">Michaud et al. (2021)</a> performed next-generation sequencing of 19 albinism-associated genes and identified compound heterozygous mutations in the BLOC1S6 gene: a nonsense mutation (S67X; <a href="#0003">604310.0003</a>) and a 2-bp deletion/insertion (<a href="#0004">604310.0004</a>) that segregated with disease in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32245340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 6-year-old Chinese boy with HPS9, <a href="#6" class="mim-tip-reference" title="Liu, T., Yuan, Y., Bai, D., Yao, X., Zhang, T., Huang, Q., Qi, Z., Yang, L., Yang, X., Li, W., Wei, A. <strong>The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population.</strong> J. Derm. 48: 676-680, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33543539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33543539</a>] [<a href="https://doi.org/10.1111/1346-8138.15762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33543539">Liu et al. (2021)</a> identified compound heterozygosity for mutations in the BLOC1S6 gene: a nonsense mutation (E50X; <a href="#0005">604310.0005</a>) and a 1-bp duplication (<a href="#0006">604310.0006</a>) that segregated with disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33543539" 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>'Pallid' is 1 of 13 platelet SPD mouse mutants. Pallid (pa) animals suffer from prolonged bleeding time, pigment dilution, kidney lysosomal enzyme elevation, serum alpha-1-antitrypsin activity deficiency (<a href="/entry/613490">613490</a>), and abnormal otolith formation. As with other mouse mutants of this class, characterization of pallid mice suggested a defect in organelle biosynthesis. <a href="#4" class="mim-tip-reference" title="Huang, L., Kuo, Y.-M., Gitschier, J. <strong>The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency.</strong> Nature Genet. 23: 329-332, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10610180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10610180</a>] [<a href="https://doi.org/10.1038/15507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10610180">Huang et al. (1999)</a> detected a nonsense mutation at codon 69 of this gene in the pallid mutant. Whereas the 'mocha' (<a href="/entry/607246">607246</a>) and 'pearl' (<a href="/entry/603401">603401</a>) SPD mutants have defects in Ap3, the findings of <a href="#4" class="mim-tip-reference" title="Huang, L., Kuo, Y.-M., Gitschier, J. <strong>The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency.</strong> Nature Genet. 23: 329-332, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10610180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10610180</a>] [<a href="https://doi.org/10.1038/15507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10610180">Huang et al. (1999)</a> suggested that pallid SPD mutants are defective in a more downstream event of vesicle trafficking, namely vesicle docking and fusion. <a href="#4" class="mim-tip-reference" title="Huang, L., Kuo, Y.-M., Gitschier, J. <strong>The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency.</strong> Nature Genet. 23: 329-332, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10610180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10610180</a>] [<a href="https://doi.org/10.1038/15507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10610180">Huang et al. (1999)</a> stated that pallid was the fifth SPD mutant to be described at the molecular level. These mutants are characterized by abnormalities in platelet-dense granules, melanosomes, and lysosomes, and in each case, the predicted protein is involved in organelle biogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10610180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Cullinane, A. R., Curry, J. A., Carmona-Rivera, C., Summers, C. G., Ciccone, C., Cardillo, N. D., Dorward, H., Hess, R. A., White, J. G., Adams, D., Huizing, M., Gahl, W. A. <strong>A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9.</strong> Am. J. Hum. Genet. 88: 778-787, 2011. Note: Retraction. Am. J. Hum. Genet. 100: 837 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21665000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21665000</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.05.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21665000">Cullinane et al. (2011)</a> reported a child with an HPS-like syndrome and a homozygous Q78X mutation in the PLDN gene; however, this article was retracted based on the finding of the United States Office of Research Integrity that Andrew R. Cullinane, Ph.D., 'falsified and/or fabricated the results in Figure 3C, by using the same gel images to represent expression of PLDN in fibroblasts and melanocytes.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21665000" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=604310[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs201348482 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201348482;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/rs201348482?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=rs201348482" 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=rs201348482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 17-year-old Italian girl with Hermansky-Pudlak syndrome-9 (HPS9; <a href="/entry/614171">614171</a>), <a href="#1" class="mim-tip-reference" title="Badolato, R., Prandini, A., Caracciolo, S., Colombo, F., Tabellini, G., Giacomelli, M., Cantarini, M. E., Pession, A., Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Saunders, C. J., Zhang, L., Schroth, G. P., Plebani, A., Parolini, S., Kingsmore, S. F. <strong>Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. (Letter)</strong> Blood 119: 3185-3187, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22461475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22461475</a>] [<a href="https://doi.org/10.1182/blood-2012-01-404350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22461475">Badolato et al. (2012)</a> performed whole-exome sequencing and identified homozygosity for a c.232C-T transition (chr15.45,895,305C-T, GRCh37) in exon 3 of the PLDN gene, resulting in a gln78-to-ter (Q78X) substitution. Sanger sequencing confirmed the mutation, which was present in heterozygosity in her unaffected parents and was not found in 50 geographically matched control individuals, in approximately 250 control exomes, or in the NHLBI exome collection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22461475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 4-year-old Pakistani girl (family LUAB11) with HPS9, <a href="#9" class="mim-tip-reference" title="Yousaf, S., Shahzad, M., Kausar, T., Sheikh, S. A., Tariq, N., Shabbir, A. S., University of Washington Center for Mendelian Genomics, Ali, M., Waryah, A. M., Shaikh, R. S., Riazuddin, S., Ahmed, Z. M. <strong>Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.</strong> Pigment Cell Melanoma Res. 29: 231-235, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26575419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26575419</a>] [<a href="https://doi.org/10.1111/pcmr.12438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26575419">Yousaf et al. (2016)</a> identified homozygosity for the previously reported Q78X mutation in the BLOC1S6 gene. Her unaffected consanguineous parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26575419" 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 52-year-old Japanese woman (patient 3) with Hermansky-Pudlak syndrome-9 (HPS9; <a href="/entry/614171">614171</a>), <a href="#8" class="mim-tip-reference" title="Okamura, K., Abe, Y., Araki, Y., Wakamatsu, K., Seishima, M., Umetsu, T., Kato, A., Kawaguchi, M., Hayashi, M., Hozumi, Y., Suzuki, T. <strong>Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.</strong> Pigment Cell Melanoma Res. 31: 267-276, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29054114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29054114</a>] [<a href="https://doi.org/10.1111/pcmr.12662" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29054114">Okamura et al. (2018)</a> identified homozygosity for a 2-bp duplication (c.285_286dupTC, NM_012388.3) in the BLOC1S6 gene, causing a frameshift predicted to result in a premature termination codon (His96LeufsTer22). Her unaffected mother and sister were heterozygous for the mutation; DNA was unavailable from her father, who was her mother's third cousin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29054114" 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 2.5-year-old Syrian girl with Hermansky-Pudlak syndrome-9 (HPS9; <a href="/entry/614171">614171</a>), <a href="#7" class="mim-tip-reference" title="Michaud, V., Fiore, M., Coste, V., Huguenin, Y., Bordet, J.-C., Plaisant, C., Lasseaux, E., Morice-Picard, F., Arveiler, B. <strong>A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.</strong> Platelets 32: 420-423, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32245340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32245340</a>] [<a href="https://doi.org/10.1080/09537104.2020.1742315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32245340">Michaud et al. (2021)</a> identified compound heterozygosity for mutations in the BLOC1S6 gene: a c.200C-G transversion (c.200C-G, NM_012388.3) in exon 2, resulting in a ser67-to-ter (S67X) substitution, and an insertion/deletion (c.319_320delGAinsAT) in exon 4, resulting in a glu107-to-met (E107M; <a href="#0004">604310.0004</a>) substitution. Her unaffected parents were each heterozygous for 1 of the mutations; the insertion/deletion was not found in the gnomAD database, whereas the nonsense mutation was present once, in heterozygosity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32245340" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1595560288 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1595560288;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=rs1595560288" 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=rs1595560288" 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=RCV001027538" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001027538" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001027538</a>
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<p>For discussion of the insertion/deletion mutation (c.319_320delGAinsAT, NM_012388.3) in exon 4 of the BLOC1S6 gene, resulting in a glu107-to-met (E107M) substitution, that was found in compound heterozygous state in a 2.5-year-old Syrian girl with Hermansky-Pudlak syndrome-9 (HPS9; <a href="/entry/614171">614171</a>) by <a href="#7" class="mim-tip-reference" title="Michaud, V., Fiore, M., Coste, V., Huguenin, Y., Bordet, J.-C., Plaisant, C., Lasseaux, E., Morice-Picard, F., Arveiler, B. <strong>A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.</strong> Platelets 32: 420-423, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32245340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32245340</a>] [<a href="https://doi.org/10.1080/09537104.2020.1742315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32245340">Michaud et al. (2021)</a>, see <a href="#0003">604310.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32245340" 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 9</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004690519" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004690519" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004690519</a>
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<p>In a 6-year-old Chinese boy with Hermansky-Pudlak syndrome-9 (HPS9; <a href="/entry/614171">614171</a>), <a href="#6" class="mim-tip-reference" title="Liu, T., Yuan, Y., Bai, D., Yao, X., Zhang, T., Huang, Q., Qi, Z., Yang, L., Yang, X., Li, W., Wei, A. <strong>The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population.</strong> J. Derm. 48: 676-680, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33543539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33543539</a>] [<a href="https://doi.org/10.1111/1346-8138.15762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33543539">Liu et al. (2021)</a> identified compound heterozygosity for mutations in the BLOC1S6 gene: a c.148G-T transversion, resulting in a glu50-to-ter (E50X) substitution, and a 1-bp duplication (c.351dupT), causing a frameshift predicted to result in a premature termination codon (Ile118TyrfsTer10). His unaffected parents were each heterozygous for 1 of the mutations. Western blot assays showed absence of pallidin protein in the proband compared to his parents, and another BLOC1 subunit, dysbindin-1a (see <a href="/entry/607145">607145</a>), was reduced in the proband, suggesting dysfunction of BLOC1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33543539" 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>.0006 HERMANSKY-PUDLAK SYNDROME 9</strong>
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BLOC1S6, 1-BP DUP, 351T
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004690520" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004690520" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004690520</a>
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<p>For discussion of the 1-bp duplication (c.351dupT) in the BLOC1S6 gene that was found in compound heterozygous state in a 6-year-old Chinese boy with Hermansky-Pudlak syndrome-9 (HPS9; <a href="/entry/614171">614171</a>) by <a href="#6" class="mim-tip-reference" title="Liu, T., Yuan, Y., Bai, D., Yao, X., Zhang, T., Huang, Q., Qi, Z., Yang, L., Yang, X., Li, W., Wei, A. <strong>The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population.</strong> J. Derm. 48: 676-680, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33543539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33543539</a>] [<a href="https://doi.org/10.1111/1346-8138.15762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33543539">Liu et al. (2021)</a>, see <a href="#0005">604310.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33543539" 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="Badolato2012" class="mim-anchor"></a>
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Badolato, R., Prandini, A., Caracciolo, S., Colombo, F., Tabellini, G., Giacomelli, M., Cantarini, M. E., Pession, A., Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Saunders, C. J., Zhang, L., Schroth, G. P., Plebani, A., Parolini, S., Kingsmore, S. F.
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<strong>Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. (Letter)</strong>
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Blood 119: 3185-3187, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22461475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22461475</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22461475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1182/blood-2012-01-404350" target="_blank">Full Text</a>]
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Cullinane, A. R., Curry, J. A., Carmona-Rivera, C., Summers, C. G., Ciccone, C., Cardillo, N. D., Dorward, H., Hess, R. A., White, J. G., Adams, D., Huizing, M., Gahl, W. A.
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<strong>A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9.</strong>
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Am. J. Hum. Genet. 88: 778-787, 2011. Note: Retraction. Am. J. Hum. Genet. 100: 837 only, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21665000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21665000</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21665000" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2011.05.009" target="_blank">Full Text</a>]
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Falcon-Perez, J. M., Starcevic, M., Gautam, R., Dell'Angelica, E. C.
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<strong>BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules.</strong>
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J. Biol. Chem. 277: 28191-28199, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12019270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12019270</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12019270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M204011200" target="_blank">Full Text</a>]
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Huang, L., Kuo, Y.-M., Gitschier, J.
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<strong>The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency.</strong>
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Nature Genet. 23: 329-332, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10610180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10610180</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10610180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/15507" target="_blank">Full Text</a>]
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Huang, L.
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<strong>Personal Communication.</strong>
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San Francisco, Calif. 2/3/2000.
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Liu, T., Yuan, Y., Bai, D., Yao, X., Zhang, T., Huang, Q., Qi, Z., Yang, L., Yang, X., Li, W., Wei, A.
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<strong>The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population.</strong>
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J. Derm. 48: 676-680, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33543539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33543539</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33543539" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Michaud2021" class="mim-anchor"></a>
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Michaud, V., Fiore, M., Coste, V., Huguenin, Y., Bordet, J.-C., Plaisant, C., Lasseaux, E., Morice-Picard, F., Arveiler, B.
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<strong>A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.</strong>
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Platelets 32: 420-423, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32245340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32245340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32245340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1080/09537104.2020.1742315" target="_blank">Full Text</a>]
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Okamura, K., Abe, Y., Araki, Y., Wakamatsu, K., Seishima, M., Umetsu, T., Kato, A., Kawaguchi, M., Hayashi, M., Hozumi, Y., Suzuki, T.
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<strong>Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.</strong>
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Pigment Cell Melanoma Res. 31: 267-276, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29054114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29054114</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29054114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/pcmr.12662" target="_blank">Full Text</a>]
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Yousaf, S., Shahzad, M., Kausar, T., Sheikh, S. A., Tariq, N., Shabbir, A. S., University of Washington Center for Mendelian Genomics, Ali, M., Waryah, A. M., Shaikh, R. S., Riazuddin, S., Ahmed, Z. M.
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<strong>Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.</strong>
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Pigment Cell Melanoma Res. 29: 231-235, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26575419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26575419</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26575419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/pcmr.12438" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 08/06/2024
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Marla J. F. O'Neill - updated : 06/09/2017<br>Marla J. F. O'Neill - updated : 10/22/2012<br>Marla J. F. O'Neill - updated : 8/12/2011<br>Patricia A. Hartz - updated : 10/9/2002<br>Victor A. McKusick - updated : 2/25/2000<br>Victor A. McKusick - updated : 2/2/2000
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</span>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh : 11/23/1999
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</span>
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</div>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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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 : 08/06/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/23/2018<br>carol : 08/02/2017<br>carol : 06/09/2017<br>carol : 08/04/2016<br>alopez : 11/13/2013<br>mgross : 4/15/2013<br>carol : 10/22/2012<br>terry : 10/22/2012<br>wwang : 8/17/2011<br>terry : 8/12/2011<br>alopez : 12/3/2010<br>carol : 8/13/2010<br>mgross : 9/10/2003<br>mgross : 10/9/2002<br>mgross : 9/20/2002<br>joanna : 12/11/2001<br>mgross : 3/15/2000<br>terry : 2/25/2000<br>terry : 2/2/2000<br>joanna : 1/24/2000<br>alopez : 11/23/1999<br>alopez : 11/23/1999
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 604310
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 6; BLOC1S6
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<h4>
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<span class="mim-font">
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BLOC1, SUBUNIT 6; BLOS6<br />
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PALLIDIN; PLDN<br />
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PA<br />
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PALLID, MOUSE, HOMOLOG OF<br />
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HPS9 GENE; HPS9
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</span>
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</h4>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: BLOC1S6</em></strong>
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</span>
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</p>
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</div>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 15q21.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:45,587,123-45,609,716 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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</th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</thead>
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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15q21.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Hermansky-Pudlak syndrome 9
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</span>
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</td>
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<td>
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<span class="mim-font">
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614171
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The 'pallid' mouse mutant represents a platelet storage pool deficiency (SPD) manifesting with prolonged bleeding time, pigment dilution, and other features. Huang et al. (1999) described the physical mapping, positional cloning, and mutational and functional analysis of the gene that is defective in pallid mice. The gene encodes a ubiquitously expressed, highly charged 172-amino acid protein, which they called pallidin, with no homology to known proteins. Huang et al. (1999) isolated the orthologous gene encoding human pallidin and found that the predicted protein has 86% amino acid identity with the mouse protein. The first 60 amino acids give rise to an unstructured protein, followed by 2 highly alpha-helical coiled-coil regions, essential for pallidin self-binding and binding to syntaxin-13 (see STX12, 606892). </p><p>Cullinane et al. (2011) noted that PLDN transcript-1, which they called PLDN1, contains 172 amino acids and is encoded by exons 1 to 5. Transcript-2, which they called PLDN2, contains 101 amino acids and is encoded by exon A, exon 2, and exon B. PCR analysis of adult and fetal human tissues showed ubiquitous expression of transcript-1 except for absence in adult and fetal brain. Transcript-2 showed limited expression in adult brain, testis, and leukocytes, and in fetal lung, brain, and thymus. </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 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>Cullinane et al. (2011) determined that the PLDN gene contains 7 exons with alternative splicing of exons A and B. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Huang (2000) stated that ESTs of the human PLDN gene had been mapped to chromosome 15q15 by radiation hybrid mapping.</p><p>By ancestral chromosome mapping, Huang et al. (1999) localized the mouse pallidin gene to chromosome 2E. The pallidin gene is closely linked to mouse Epb42 (177070) and B2m (109700), 68 cM from the centromere. </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>Using a yeast 2-hybrid screen, Huang et al. (1999) discovered that pallidin interacts with syntaxin-13 (see STX12, 606892), a t-SNARE protein that mediates vesicle docking and fusion. Huang et al. (1999) confirmed this interaction by coimmunoprecipitation assay. Immunofluorescence studies corroborated that the cellular distribution of pallidin overlaps that of syntaxin-13. </p><p>By coimmunoprecipitation and immunodepletion experiments of mouse skin fibroblasts, Falcon-Perez et al. (2002) identified pallidin as a component of BLOC1 (biogenesis of lysosome-related organelles complex-1; see 601444), which also contains 'muted' (607289). A yeast 2-hybrid screen found no direct interaction between muted and pallidin, but pallidin was found to interact with itself. Residues that include 2 putative coiled-coil domains of human pallidin were necessary and sufficient for self-assembly. Falcon-Perez et al. (2002) also determined that pallidin/BLOC1 could interact with actin filaments in vitro and in transfected cells. </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 a 17-year-old Italian girl with Hermansky-Pudlak syndrome-9 (HPS9; 614171), with clinical features of oculocutaneous albinism, nystagmus, thrombocytopenia, and primary immunodeficiency, Badolato et al. (2012) performed whole-exome sequencing (WES) and identified homozygosity for a gln78-to-ter mutation (Q78X; 604310.0001) in the PLDN gene; no mutations were found in other immunodeficiency-associated genes. </p><p>By WES in a 4-year-old Pakistani girl with HPS9, Yousaf et al. (2016) identified homozygosity for the previously reported Q78X nonsense mutation in the BLOC1S6 gene. Her unaffected consanguineous parents were heterozygous for the mutation. </p><p>In a 52-year-old Japanese woman with HPS9, Okamura et al. (2018) identified homozygosity for a 2-bp duplication in the BLOC1S6 gene (604310.0002) that segregated with disease in the family. </p><p>In a 2.5-year-old girl of Syrian origin with HPS9, Michaud et al. (2021) performed next-generation sequencing of 19 albinism-associated genes and identified compound heterozygous mutations in the BLOC1S6 gene: a nonsense mutation (S67X; 604310.0003) and a 2-bp deletion/insertion (604310.0004) that segregated with disease in the family. </p><p>In a 6-year-old Chinese boy with HPS9, Liu et al. (2021) identified compound heterozygosity for mutations in the BLOC1S6 gene: a nonsense mutation (E50X; 604310.0005) and a 1-bp duplication (604310.0006) that segregated with disease. </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>'Pallid' is 1 of 13 platelet SPD mouse mutants. Pallid (pa) animals suffer from prolonged bleeding time, pigment dilution, kidney lysosomal enzyme elevation, serum alpha-1-antitrypsin activity deficiency (613490), and abnormal otolith formation. As with other mouse mutants of this class, characterization of pallid mice suggested a defect in organelle biosynthesis. Huang et al. (1999) detected a nonsense mutation at codon 69 of this gene in the pallid mutant. Whereas the 'mocha' (607246) and 'pearl' (603401) SPD mutants have defects in Ap3, the findings of Huang et al. (1999) suggested that pallid SPD mutants are defective in a more downstream event of vesicle trafficking, namely vesicle docking and fusion. Huang et al. (1999) stated that pallid was the fifth SPD mutant to be described at the molecular level. These mutants are characterized by abnormalities in platelet-dense granules, melanosomes, and lysosomes, and in each case, the predicted protein is involved in organelle biogenesis. </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>History</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>Cullinane et al. (2011) reported a child with an HPS-like syndrome and a homozygous Q78X mutation in the PLDN gene; however, this article was retracted based on the finding of the United States Office of Research Integrity that Andrew R. Cullinane, Ph.D., 'falsified and/or fabricated the results in Figure 3C, by using the same gel images to represent expression of PLDN in fibroblasts and melanocytes.' </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 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 9</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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BLOC1S6, GLN78TER
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<br />
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SNP: rs201348482,
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gnomAD: rs201348482,
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ClinVar: RCV000023365, RCV000851271
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 17-year-old Italian girl with Hermansky-Pudlak syndrome-9 (HPS9; 614171), Badolato et al. (2012) performed whole-exome sequencing and identified homozygosity for a c.232C-T transition (chr15.45,895,305C-T, GRCh37) in exon 3 of the PLDN gene, resulting in a gln78-to-ter (Q78X) substitution. Sanger sequencing confirmed the mutation, which was present in heterozygosity in her unaffected parents and was not found in 50 geographically matched control individuals, in approximately 250 control exomes, or in the NHLBI exome collection. </p><p>In a 4-year-old Pakistani girl (family LUAB11) with HPS9, Yousaf et al. (2016) identified homozygosity for the previously reported Q78X mutation in the BLOC1S6 gene. Her unaffected consanguineous parents were heterozygous for the mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 HERMANSKY-PUDLAK SYNDROME 9</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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BLOC1S6, 2-BP DUP, 285TC
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<br />
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ClinVar: RCV004690518
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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 52-year-old Japanese woman (patient 3) with Hermansky-Pudlak syndrome-9 (HPS9; 614171), Okamura et al. (2018) identified homozygosity for a 2-bp duplication (c.285_286dupTC, NM_012388.3) in the BLOC1S6 gene, causing a frameshift predicted to result in a premature termination codon (His96LeufsTer22). Her unaffected mother and sister were heterozygous for the mutation; DNA was unavailable from her father, who was her mother's third cousin. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 HERMANSKY-PUDLAK SYNDROME 9</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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BLOC1S6, SER67TER
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<br />
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SNP: rs772475341,
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gnomAD: rs772475341,
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ClinVar: RCV001027539
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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 2.5-year-old Syrian girl with Hermansky-Pudlak syndrome-9 (HPS9; 614171), Michaud et al. (2021) identified compound heterozygosity for mutations in the BLOC1S6 gene: a c.200C-G transversion (c.200C-G, NM_012388.3) in exon 2, resulting in a ser67-to-ter (S67X) substitution, and an insertion/deletion (c.319_320delGAinsAT) in exon 4, resulting in a glu107-to-met (E107M; 604310.0004) substitution. Her unaffected parents were each heterozygous for 1 of the mutations; the insertion/deletion was not found in the gnomAD database, whereas the nonsense mutation was present once, in heterozygosity. </p>
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<span class="mim-font">
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<strong>.0004 HERMANSKY-PUDLAK SYNDROME 9</strong>
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BLOC1S6, GLU107MET
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SNP: rs1595560288,
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ClinVar: RCV001027538
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<p>For discussion of the insertion/deletion mutation (c.319_320delGAinsAT, NM_012388.3) in exon 4 of the BLOC1S6 gene, resulting in a glu107-to-met (E107M) substitution, that was found in compound heterozygous state in a 2.5-year-old Syrian girl with Hermansky-Pudlak syndrome-9 (HPS9; 614171) by Michaud et al. (2021), see 604310.0003. </p>
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<strong>.0005 HERMANSKY-PUDLAK SYNDROME 9</strong>
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BLOC1S6, GLU50TER
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ClinVar: RCV004690519
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<p>In a 6-year-old Chinese boy with Hermansky-Pudlak syndrome-9 (HPS9; 614171), Liu et al. (2021) identified compound heterozygosity for mutations in the BLOC1S6 gene: a c.148G-T transversion, resulting in a glu50-to-ter (E50X) substitution, and a 1-bp duplication (c.351dupT), causing a frameshift predicted to result in a premature termination codon (Ile118TyrfsTer10). His unaffected parents were each heterozygous for 1 of the mutations. Western blot assays showed absence of pallidin protein in the proband compared to his parents, and another BLOC1 subunit, dysbindin-1a (see 607145), was reduced in the proband, suggesting dysfunction of BLOC1. </p>
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<strong>.0006 HERMANSKY-PUDLAK SYNDROME 9</strong>
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BLOC1S6, 1-BP DUP, 351T
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ClinVar: RCV004690520
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<p>For discussion of the 1-bp duplication (c.351dupT) in the BLOC1S6 gene that was found in compound heterozygous state in a 6-year-old Chinese boy with Hermansky-Pudlak syndrome-9 (HPS9; 614171) by Liu et al. (2021), see 604310.0005. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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</div>
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Badolato, R., Prandini, A., Caracciolo, S., Colombo, F., Tabellini, G., Giacomelli, M., Cantarini, M. E., Pession, A., Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Saunders, C. J., Zhang, L., Schroth, G. P., Plebani, A., Parolini, S., Kingsmore, S. F.
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<strong>Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. (Letter)</strong>
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Blood 119: 3185-3187, 2012.
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[PubMed: 22461475]
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[Full Text: https://doi.org/10.1182/blood-2012-01-404350]
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</li>
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Cullinane, A. R., Curry, J. A., Carmona-Rivera, C., Summers, C. G., Ciccone, C., Cardillo, N. D., Dorward, H., Hess, R. A., White, J. G., Adams, D., Huizing, M., Gahl, W. A.
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<strong>A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9.</strong>
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Am. J. Hum. Genet. 88: 778-787, 2011. Note: Retraction. Am. J. Hum. Genet. 100: 837 only, 2017.
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[PubMed: 21665000]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.05.009]
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</li>
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<p class="mim-text-font">
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Falcon-Perez, J. M., Starcevic, M., Gautam, R., Dell'Angelica, E. C.
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<strong>BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules.</strong>
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J. Biol. Chem. 277: 28191-28199, 2002.
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[PubMed: 12019270]
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[Full Text: https://doi.org/10.1074/jbc.M204011200]
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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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Huang, L., Kuo, Y.-M., Gitschier, J.
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<strong>The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency.</strong>
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Nature Genet. 23: 329-332, 1999.
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[PubMed: 10610180]
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[Full Text: https://doi.org/10.1038/15507]
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<li>
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<p class="mim-text-font">
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Huang, L.
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<strong>Personal Communication.</strong>
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San Francisco, Calif. 2/3/2000.
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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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Liu, T., Yuan, Y., Bai, D., Yao, X., Zhang, T., Huang, Q., Qi, Z., Yang, L., Yang, X., Li, W., Wei, A.
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<strong>The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population.</strong>
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J. Derm. 48: 676-680, 2021.
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[PubMed: 33543539]
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[Full Text: https://doi.org/10.1111/1346-8138.15762]
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<p class="mim-text-font">
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Michaud, V., Fiore, M., Coste, V., Huguenin, Y., Bordet, J.-C., Plaisant, C., Lasseaux, E., Morice-Picard, F., Arveiler, B.
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<strong>A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.</strong>
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Platelets 32: 420-423, 2021.
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[PubMed: 32245340]
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[Full Text: https://doi.org/10.1080/09537104.2020.1742315]
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Okamura, K., Abe, Y., Araki, Y., Wakamatsu, K., Seishima, M., Umetsu, T., Kato, A., Kawaguchi, M., Hayashi, M., Hozumi, Y., Suzuki, T.
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<strong>Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.</strong>
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Pigment Cell Melanoma Res. 31: 267-276, 2018.
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[PubMed: 29054114]
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[Full Text: https://doi.org/10.1111/pcmr.12662]
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<li>
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Yousaf, S., Shahzad, M., Kausar, T., Sheikh, S. A., Tariq, N., Shabbir, A. S., University of Washington Center for Mendelian Genomics, Ali, M., Waryah, A. M., Shaikh, R. S., Riazuddin, S., Ahmed, Z. M.
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<strong>Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.</strong>
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Pigment Cell Melanoma Res. 29: 231-235, 2016.
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[PubMed: 26575419]
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[Full Text: https://doi.org/10.1111/pcmr.12438]
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Marla J. F. O'Neill - updated : 08/06/2024<br>Marla J. F. O'Neill - updated : 06/09/2017<br>Marla J. F. O'Neill - updated : 10/22/2012<br>Marla J. F. O'Neill - updated : 8/12/2011<br>Patricia A. Hartz - updated : 10/9/2002<br>Victor A. McKusick - updated : 2/25/2000<br>Victor A. McKusick - updated : 2/2/2000
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