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- *607521 - HPS5 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 2, SUBUNIT 2; HPS5
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- OMIM
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<p>
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<span class="h4">*607521</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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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607521">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="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=ENSG00000110756;t=ENST00000349215" 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=11234" 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=607521" 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="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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</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=ENSG00000110756;t=ENST00000349215" 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_007216,NM_181507,NM_181508,XM_011519862,XM_011519863,XM_011519864,XM_011519865,XM_011519867,XM_011519868,XM_017017149,XM_017017150,XM_017017151,XM_017017152,XM_017017153,XM_017017154,XM_047426324,XM_047426325,XM_047426326,XM_047426327,XM_047426328,XM_047426329,XM_047426330" 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_181507" 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=607521" 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=07395&isoform_id=07395_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/HPS5" 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/4468915,21707158,27884586,27884588,27884590,29429222,31657123,31657125,31657127,119588808,119588809,119588810,119588811,119588812,119588813,158256758,158258304,193785855,767965309,767965311,767965313,767965315,767965319,767965321,929654231,1034571815,1034571817,1034571819,1034571821,1034571823,1034571827,2217280978,2217280982,2217280986,2217280989,2217280991,2217280993,2217280995,2462497756,2462497758,2462497760,2462497762,2462497764,2462497766,2462497768,2462497770,2462497772,2462497774,2462497776,2462497778,2462497780,2462497782,2462497784,2462497786,2462497788,2462497790,2462522679,2462522681,2462522683,2462522685,2462522687,2462522689,2462522691,2462522693,2462522695,2462522697,2462522699,2462522701,2462522703,2462522705,2462522707,2462522709,2462522711,2462522713" 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/Q9UPZ3" 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=11234" 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=ENSG00000110756;t=ENST00000349215" 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=HPS5" 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=HPS5" 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+11234" 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/HPS5" 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:11234" 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/11234" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr11&hgg_gene=ENST00000349215.8&hgg_start=18278670&hgg_end=18322174&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:17022" 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=607521[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607521[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/ENSG00000110756" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=HPS5" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=HPS5" 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=HPS5" 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="http://www.LOVD.nl/HPS5" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=HPS5&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/PA38432" 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:17022" 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/FBgn0086679.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:2180307" 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/HPS5#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:2180307" 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/11234/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002116/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=11234" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00012369;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070410-80" 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=HPS5&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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607521
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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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HPS5 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 2, SUBUNIT 2; HPS5
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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">
|
|
HPS5 GENE<br />
|
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RUBY-EYE 2, MOUSE, HOMOLOG OF; RU2<br />
|
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KIAA1017<br />
|
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ALPHA-INTEGRIN-BINDING PROTEIN 63; AIBP63
|
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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=HPS5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HPS5</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/11/221?start=-3&limit=10&highlight=221">11p15.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:18278670-18322174&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">11:18,278,670-18,322,174</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>
|
|
<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">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/221?start=-3&limit=10&highlight=221">
|
|
11p15.1
|
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</a>
|
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</span>
|
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</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Hermansky-Pudlak syndrome 5
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614074"> 614074 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/607521" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/607521" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<p>By screening clones obtained from a size-fractionated brain cDNA library, <a href="#2" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 6: 63-70, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10231032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10231032</a>] [<a href="https://doi.org/10.1093/dnares/6.1.63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10231032">Nagase et al. (1999)</a> identified HPS5 as KIAA1017. RT-PCR followed by ELISA detected ubiquitous expression, with highest levels in liver, testis, spinal cord, and thalamus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10231032" 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>Using a conserved cytoplasmic domain of alpha-3 integrin (<a href="/entry/605025">605025</a>) in a yeast 2-hybrid screen, <a href="#6" class="mim-tip-reference" title="Wixler, V., Laplantine, E., Geerts, D., Sonnenberg, A., Petersohn, D., Eckes, B., Paulsson, M., Aumailley, M. <strong>Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains.</strong> FEBS Lett. 445: 351-355, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10094488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10094488</a>] [<a href="https://doi.org/10.1016/s0014-5793(99)00151-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10094488">Wixler et al. (1999)</a> cloned HPS5, which they designated clone 63, from a placenta cDNA library. The predicted partial HPS5 sequence contains numerous putative phosphorylation sites for protein kinase A (see <a href="/entry/176911">176911</a>), protein kinase C (see <a href="/entry/176960">176960</a>), and casein kinase II (see <a href="/entry/115442">115442</a>), as well as a putative myristoylation site. HPS5 bound all alpha-integrin chains that had an aromatic amino acid before the first lysine of the conserved KXGFFKR motif, including alpha-2 (<a href="/entry/192974">192974</a>), alpha-3, alpha-3B, alpha-5 (<a href="/entry/135620">135620</a>), and alpha-6A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10094488" 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 mice there are at least 16 naturally occurring hypopigmentation models of Hermansky-Pudlak syndrome (HPS; <a href="/entry/203300">203300</a>), and 9 of these have been characterized at the molecular level. <a href="#7" class="mim-tip-reference" title="Zhang, Q., Zhao, B., Li, W., Oiso, N., Novak, E. K., Rusiniak, M. E., Gautam, R., Chintala, S., O'Brien, E. P., Zhang, Y., Roe, B. A., Elliott, R. W., and 9 others. <strong>Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.</strong> Nature Genet. 33: 145-154, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12548288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12548288</a>] [<a href="https://doi.org/10.1038/ng1087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12548288">Zhang et al. (2003)</a> used positional candidate and transgenic rescue approaches to identify the genes mutated in ruby-eye-2 (ru2) and ruby-eye (ru; <a href="/entry/607522">607522</a>), 2 'mimic' mouse models of HPS. They determined that these genes are orthologs of the human genes mutated in individuals with HPS5 and HPS6, respectively. Both genes are found only in higher eukaryotes. The human ru2 ortholog HPS5 contains 1,129 amino acids and is 81% identical to the mouse protein. Northern blot analysis of mouse tissues detected a 4.8-kb ru2 transcript in all tissues tested, with lowest expression in skeletal muscle and spleen. <a href="#7" class="mim-tip-reference" title="Zhang, Q., Zhao, B., Li, W., Oiso, N., Novak, E. K., Rusiniak, M. E., Gautam, R., Chintala, S., O'Brien, E. P., Zhang, Y., Roe, B. A., Elliott, R. W., and 9 others. <strong>Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.</strong> Nature Genet. 33: 145-154, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12548288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12548288</a>] [<a href="https://doi.org/10.1038/ng1087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12548288">Zhang et al. (2003)</a> concluded that ru and ru2 represent a novel class of genes that evolved in higher organisms to govern the synthesis of highly specialized lysosome-related organelles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12548288" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#7" class="mim-tip-reference" title="Zhang, Q., Zhao, B., Li, W., Oiso, N., Novak, E. K., Rusiniak, M. E., Gautam, R., Chintala, S., O'Brien, E. P., Zhang, Y., Roe, B. A., Elliott, R. W., and 9 others. <strong>Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.</strong> Nature Genet. 33: 145-154, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12548288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12548288</a>] [<a href="https://doi.org/10.1038/ng1087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12548288">Zhang et al. (2003)</a> determined that both the mouse ru2 gene and the human HPS5 gene have 23 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12548288" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By radiation hybrid analysis, <a href="#2" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 6: 63-70, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10231032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10231032</a>] [<a href="https://doi.org/10.1093/dnares/6.1.63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10231032">Nagase et al. (1999)</a> mapped the HPS5 gene to chromosome 11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10231032" 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 genomic sequence analysis, <a href="#7" class="mim-tip-reference" title="Zhang, Q., Zhao, B., Li, W., Oiso, N., Novak, E. K., Rusiniak, M. E., Gautam, R., Chintala, S., O'Brien, E. P., Zhang, Y., Roe, B. A., Elliott, R. W., and 9 others. <strong>Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.</strong> Nature Genet. 33: 145-154, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12548288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12548288</a>] [<a href="https://doi.org/10.1038/ng1087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12548288">Zhang et al. (2003)</a> mapped the mouse ru2 gene to chromosome 7 and the human HPS5 gene to chromosome 11p15-p13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12548288" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By coimmunoprecipitation and yeast 2-hybrid analyses, <a href="#7" class="mim-tip-reference" title="Zhang, Q., Zhao, B., Li, W., Oiso, N., Novak, E. K., Rusiniak, M. E., Gautam, R., Chintala, S., O'Brien, E. P., Zhang, Y., Roe, B. A., Elliott, R. W., and 9 others. <strong>Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.</strong> Nature Genet. 33: 145-154, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12548288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12548288</a>] [<a href="https://doi.org/10.1038/ng1087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12548288">Zhang et al. (2003)</a> showed that the ru and ru2 proteins directly interact in a complex that they referred to as 'biogenesis of lysosome-related organelles complex-2,' or BLOC2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12548288" 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 immunocytochemical analysis of LAMP3 (<a href="/entry/605883">605883</a>) localization in fibroblasts from patients with Hermansky-Pudlak syndrome-5 (HPS5; <a href="/entry/614074">614074</a>) and truncating mutations in the HPS5 gene and from controls, <a href="#1" class="mim-tip-reference" title="Huizing, M., Hess, R. Dorward, H., Claassen, D. A., Helip-Wooley, A., Kleta, R., Kaiser-Kupfer, M. I., White, J. G., Gahl, W. A. <strong>Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.</strong> Traffic 5: 711-722, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15296495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15296495</a>] [<a href="https://doi.org/10.1111/j.1600-0854.2004.00208.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15296495">Huizing et al. (2004)</a> observed that normal fibroblasts showed a typical lysosomal punctate distribution of LAMP3 throughout the cell, to the very tips of the fibroblasts, whereas patient cells showed similar localization in the perinuclear area, but very minimal localization in the dendritic tips. The authors concluded that HPS5 plays a role in the movement of vesicles from the perinuclear region to the periphery of the cell. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15296495" 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 3-year-old Turkish boy with Hermansky-Pudlak syndrome-5 (HPS5; <a href="/entry/614074">614074</a>), <a href="#7" class="mim-tip-reference" title="Zhang, Q., Zhao, B., Li, W., Oiso, N., Novak, E. K., Rusiniak, M. E., Gautam, R., Chintala, S., O'Brien, E. P., Zhang, Y., Roe, B. A., Elliott, R. W., and 9 others. <strong>Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.</strong> Nature Genet. 33: 145-154, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12548288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12548288</a>] [<a href="https://doi.org/10.1038/ng1087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12548288">Zhang et al. (2003)</a> identified a homozygous 4-bp deletion (<a href="#0001">607521.0001</a>) in the HPS5 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12548288" 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 4 patients with HPS5, including 2 sisters, <a href="#1" class="mim-tip-reference" title="Huizing, M., Hess, R. Dorward, H., Claassen, D. A., Helip-Wooley, A., Kleta, R., Kaiser-Kupfer, M. I., White, J. G., Gahl, W. A. <strong>Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.</strong> Traffic 5: 711-722, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15296495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15296495</a>] [<a href="https://doi.org/10.1111/j.1600-0854.2004.00208.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15296495">Huizing et al. (2004)</a> identified homozygous and compound heterozygous mutations in the HPS5 gene (see e.g., <a href="#0002">607521.0002</a>-<a href="#0004">607521.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15296495" 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 92-year-old man with HPS5, <a href="#3" class="mim-tip-reference" title="Ringeisen, A. L., Schimmenti, L. A., White, J. G., Schoonveld, C., Summers, C. G. <strong>Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.</strong> J. AAPOS 17: 334-336, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23607980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23607980</a>] [<a href="https://doi.org/10.1016/j.jaapos.2013.02.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23607980">Ringeisen et al. (2013)</a> identified homozygosity for a 1-bp deletion in the HPS5 gene (<a href="#0006">607521.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23607980" 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 27-year-old Turkish man with HPS5, <a href="#4" class="mim-tip-reference" title="Stephen, J., Yokoyama, T., Tolman, N. J., O'Brien, K. J., Nicoli, E.-R., Brooks, B. P., Huryn, L. Titus, S. A., Adams, D. R., Chen, D., Gahl, W. A., Gochuico, B. R., Christine, M., Malicdan, V. <strong>Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.</strong> PLoS One 12: e0173682, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28296950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28296950</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28296950[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0173682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28296950">Stephen et al. (2017)</a> identified homozygosity for an intronic mutation in the HPS5 gene (<a href="#0007">607521.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28296950" 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="#7" class="mim-tip-reference" title="Zhang, Q., Zhao, B., Li, W., Oiso, N., Novak, E. K., Rusiniak, M. E., Gautam, R., Chintala, S., O'Brien, E. P., Zhang, Y., Roe, B. A., Elliott, R. W., and 9 others. <strong>Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.</strong> Nature Genet. 33: 145-154, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12548288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12548288</a>] [<a href="https://doi.org/10.1038/ng1087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12548288">Zhang et al. (2003)</a> stated that ru and ru2 mice are completely indistinguishable in appearance. Although lysosomal morphology is normal in both mice, kidney proximal tubule cells secrete lysosomal enzymes into urine at greatly reduced rates in both. Platelet dense granules are very deficient in critical components such as serotonin and adenine nucleotides in both, leading to functionally abnormal platelets and prolonged bleeding times. Another subcellular organelle, the mast cell granule, undergoes unregulated 'kiss-and-run' fusion at the plasma membrane of mast cells of ru mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12548288" 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>7 Selected Examples</a>):</strong>
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<a href="/allelicVariants/607521" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607521[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">rs281865103 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865103;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=rs281865103" 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=rs281865103" 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 3-year-old Turkish boy with Hermansky-Pudlak syndrome (HPS5; <a href="/entry/614074">614074</a>), <a href="#7" class="mim-tip-reference" title="Zhang, Q., Zhao, B., Li, W., Oiso, N., Novak, E. K., Rusiniak, M. E., Gautam, R., Chintala, S., O'Brien, E. P., Zhang, Y., Roe, B. A., Elliott, R. W., and 9 others. <strong>Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.</strong> Nature Genet. 33: 145-154, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12548288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12548288</a>] [<a href="https://doi.org/10.1038/ng1087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12548288">Zhang et al. (2003)</a> identified a homozygous 4-bp deletion (AGTT) at codons leu675 to val676 in the HPS5 gene. The mutation resulted in a frameshift with truncation of the nonsense polypeptide at codon 682, causing loss of 40% of the protein at the C terminus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12548288" 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"><span class="text-primary">●</span> rs281865104 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865104;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/rs281865104?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=rs281865104" 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=rs281865104" 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=RCV000021029 OR RCV003556063" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000021029, RCV003556063" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000021029...</a>
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<p>In a 10-year-old boy of English, Irish, Dutch, and Swedish ancestry (patient 106) with Hermansky-Pudlak syndrome (HPS5; <a href="/entry/614074">614074</a>), <a href="#1" class="mim-tip-reference" title="Huizing, M., Hess, R. Dorward, H., Claassen, D. A., Helip-Wooley, A., Kleta, R., Kaiser-Kupfer, M. I., White, J. G., Gahl, W. A. <strong>Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.</strong> Traffic 5: 711-722, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15296495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15296495</a>] [<a href="https://doi.org/10.1111/j.1600-0854.2004.00208.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15296495">Huizing et al. (2004)</a> identified compound heterozygosity for 2 mutations in the HPS5 gene: a c.2593C-T transition in exon 18, resulting in an arg865-to-ter (R865X) substitution, and a 1-bp deletion (c.2624delT; <a href="#0003">607521.0003</a>) in exon 18, causing a frameshift predicted to result in a premature termination codon. Northern blot analysis of mRNA isolated from patient fibroblasts showed reduced amounts of HPS5 transcripts, consistent with nonsense-mediated RNA decay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15296495" 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="#4" class="mim-tip-reference" title="Stephen, J., Yokoyama, T., Tolman, N. J., O'Brien, K. J., Nicoli, E.-R., Brooks, B. P., Huryn, L. Titus, S. A., Adams, D. R., Chen, D., Gahl, W. A., Gochuico, B. R., Christine, M., Malicdan, V. <strong>Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.</strong> PLoS One 12: e0173682, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28296950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28296950</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28296950[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0173682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28296950">Stephen et al. (2017)</a> performed Western blot analysis in this patient and observed severely reduced HPS5 protein levels compared to control. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28296950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 HERMANSKY-PUDLAK SYNDROME 5</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs281865105 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865105;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/rs281865105?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=rs281865105" 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=rs281865105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 1-bp deletion (c.2624delT) in exon 18 of the HPS5 gene, causing a frameshift predicted to result in a premature termination codon, that was found in compound heterozygous state in a boy with Hermansky-Pudlak syndrome (HPS5; <a href="/entry/614074">614074</a>) by <a href="#1" class="mim-tip-reference" title="Huizing, M., Hess, R. Dorward, H., Claassen, D. A., Helip-Wooley, A., Kleta, R., Kaiser-Kupfer, M. I., White, J. G., Gahl, W. A. <strong>Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.</strong> Traffic 5: 711-722, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15296495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15296495</a>] [<a href="https://doi.org/10.1111/j.1600-0854.2004.00208.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15296495">Huizing et al. (2004)</a>, see <a href="#0002">607521.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15296495" 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="#4" class="mim-tip-reference" title="Stephen, J., Yokoyama, T., Tolman, N. J., O'Brien, K. J., Nicoli, E.-R., Brooks, B. P., Huryn, L. Titus, S. A., Adams, D. R., Chen, D., Gahl, W. A., Gochuico, B. R., Christine, M., Malicdan, V. <strong>Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.</strong> PLoS One 12: e0173682, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28296950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28296950</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28296950[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0173682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28296950">Stephen et al. (2017)</a> stated that the c.2624delT (c.2624delT, NM_181507.1) mutation in the patient reported by <a href="#1" class="mim-tip-reference" title="Huizing, M., Hess, R. Dorward, H., Claassen, D. A., Helip-Wooley, A., Kleta, R., Kaiser-Kupfer, M. I., White, J. G., Gahl, W. A. <strong>Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.</strong> Traffic 5: 711-722, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15296495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15296495</a>] [<a href="https://doi.org/10.1111/j.1600-0854.2004.00208.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15296495">Huizing et al. (2004)</a> resulted in a frameshift and premature termination (Leu875CysfsTer20). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15296495+28296950" 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">rs281865101 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865101;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=rs281865101" 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=rs281865101" 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=RCV000021033 OR RCV005089293" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000021033, RCV005089293" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000021033...</a>
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<p>In a 21-year-old English/Irish woman (patient 113) with Hermansky-Pudlak syndrome (HPS5; <a href="/entry/614074">614074</a>), <a href="#1" class="mim-tip-reference" title="Huizing, M., Hess, R. Dorward, H., Claassen, D. A., Helip-Wooley, A., Kleta, R., Kaiser-Kupfer, M. I., White, J. G., Gahl, W. A. <strong>Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.</strong> Traffic 5: 711-722, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15296495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15296495</a>] [<a href="https://doi.org/10.1111/j.1600-0854.2004.00208.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15296495">Huizing et al. (2004)</a> identified compound heterozygosity for 2 mutations in the HPS5 gene: a 1-bp insertion (c.879insC) in exon 8 of the HPS5 gene, and a 2-bp (GA) insertion (<a href="#0005">607521.0005</a>) in exon 20, both causing frameshifts predicted to result in premature termination codons. Northern blot of mRNA isolated from patient fibroblasts showed reduced amounts of HPS5 transcripts, consistent with nonsense-mediated RNA decay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15296495" 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="#4" class="mim-tip-reference" title="Stephen, J., Yokoyama, T., Tolman, N. J., O'Brien, K. J., Nicoli, E.-R., Brooks, B. P., Huryn, L. Titus, S. A., Adams, D. R., Chen, D., Gahl, W. A., Gochuico, B. R., Christine, M., Malicdan, V. <strong>Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.</strong> PLoS One 12: e0173682, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28296950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28296950</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28296950[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0173682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28296950">Stephen et al. (2017)</a> stated that the mutation in this patient reported by <a href="#1" class="mim-tip-reference" title="Huizing, M., Hess, R. Dorward, H., Claassen, D. A., Helip-Wooley, A., Kleta, R., Kaiser-Kupfer, M. I., White, J. G., Gahl, W. A. <strong>Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.</strong> Traffic 5: 711-722, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15296495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15296495</a>] [<a href="https://doi.org/10.1111/j.1600-0854.2004.00208.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15296495">Huizing et al. (2004)</a> was c.879dupC (c.879dupC, NM_181507.1), resulting in a frameshift and premature termination (Lys294GlnfsTer6). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15296495+28296950" 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">rs397507169 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397507169;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=rs397507169" 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=rs397507169" 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=RCV000021031 OR RCV001851985" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000021031, RCV001851985" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000021031...</a>
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<p>For discussion of the 2-bp (GA) insertion in exon 20 of the HPS5 gene, causing a frameshift predicted to result in a premature termination codon, that was found in compound heterozygous state in a woman with Hermansky-Pudlak syndrome (HPS5; <a href="/entry/614074">614074</a>) by <a href="#1" class="mim-tip-reference" title="Huizing, M., Hess, R. Dorward, H., Claassen, D. A., Helip-Wooley, A., Kleta, R., Kaiser-Kupfer, M. I., White, J. G., Gahl, W. A. <strong>Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.</strong> Traffic 5: 711-722, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15296495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15296495</a>] [<a href="https://doi.org/10.1111/j.1600-0854.2004.00208.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15296495">Huizing et al. (2004)</a>, see <a href="#0004">607521.0004</a>. <a href="#4" class="mim-tip-reference" title="Stephen, J., Yokoyama, T., Tolman, N. J., O'Brien, K. J., Nicoli, E.-R., Brooks, B. P., Huryn, L. Titus, S. A., Adams, D. R., Chen, D., Gahl, W. A., Gochuico, B. R., Christine, M., Malicdan, V. <strong>Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.</strong> PLoS One 12: e0173682, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28296950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28296950</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28296950[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0173682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28296950">Stephen et al. (2017)</a> stated that the mutation in this patient was c.2928_2929dupGA (c.2928_2929dupGA, NM_181507.1), resulting in a frameshift and premature termination (Thr977ArgfsTer15). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15296495+28296950" 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"><span class="text-primary">●</span> rs766602179 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs766602179;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/rs766602179?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=rs766602179" 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=rs766602179" 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=RCV000496925 OR RCV000599122 OR RCV000852025" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000496925, RCV000599122, RCV000852025" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000496925...</a>
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<p>In a 92-year-old man with Hermansky-Pudlak syndrome (HPS5; <a href="/entry/614074">614074</a>), <a href="#3" class="mim-tip-reference" title="Ringeisen, A. L., Schimmenti, L. A., White, J. G., Schoonveld, C., Summers, C. G. <strong>Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.</strong> J. AAPOS 17: 334-336, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23607980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23607980</a>] [<a href="https://doi.org/10.1016/j.jaapos.2013.02.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23607980">Ringeisen et al. (2013)</a> identified homozygosity for a 1-bp deletion in the HPS5 gene, causing a frameshift. <a href="#3" class="mim-tip-reference" title="Ringeisen, A. L., Schimmenti, L. A., White, J. G., Schoonveld, C., Summers, C. G. <strong>Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.</strong> J. AAPOS 17: 334-336, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23607980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23607980</a>] [<a href="https://doi.org/10.1016/j.jaapos.2013.02.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23607980">Ringeisen et al. (2013)</a> designated the mutation c.1081delC, based on HPS5 variant 2 (NM_007216). <a href="#5" class="mim-tip-reference" title="Summers, C. G., Schimmenti, L. A., Sperber, S. <strong>Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. (Letter)</strong> J. AAPOS 18: 209-210, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24698632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24698632</a>] [<a href="https://doi.org/10.1016/j.jaapos.2014.02.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24698632">Summers et al. (2014)</a> noted that the mutation based on HPS5 variant 1 is c.1423delC (c.1423delC, NM_181507.1.), resulting in a frameshift and premature termination (Leu475SerfsTer37). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23607980+24698632" 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"><span class="text-primary">●</span> rs200449378 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200449378;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/rs200449378?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=rs200449378" 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=rs200449378" 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=RCV000496404 OR RCV001731720 OR RCV004767305" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000496404, RCV001731720, RCV004767305" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000496404...</a>
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<p>In a 27-year-old Turkish man with Hermansky-Pudlak syndrome (HPS5; <a href="/entry/614074">614074</a>), born of first-cousin parents, <a href="#4" class="mim-tip-reference" title="Stephen, J., Yokoyama, T., Tolman, N. J., O'Brien, K. J., Nicoli, E.-R., Brooks, B. P., Huryn, L. Titus, S. A., Adams, D. R., Chen, D., Gahl, W. A., Gochuico, B. R., Christine, M., Malicdan, V. <strong>Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.</strong> PLoS One 12: e0173682, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28296950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28296950</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28296950[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0173682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28296950">Stephen et al. (2017)</a> identified homozygosity for a c.285-10A-G transition (c.285-10A-G, NM_181507.1) in intron 4 of the HPS5 gene, predicted to activate a cryptic acceptor splice site 9 nucleotides before the usual acceptor site. Sanger sequencing of patient fibroblast DNA confirmed the insertion of 9 nucleotides from the intronic region into the coding frame, predicted to result in an in-frame insertion of 3 amino acids (Ser95_Gln96insSerCysSer) in the highly conserved domain of HPS5. Parental DNA was unavailable, and the intron 4 variant was found in the ExAC database as a heterozygous change at an allele frequency of 0.0001. Relative quantification of mRNA from patient fibroblasts showed significant reductions in transcript for the 3 different isoforms of HPS5, with isoforms 1, 2, and 3 being reduced to 40%, 72%, and 65% of control levels, respectively. In addition, Western blot analysis showed severely reduced HPS5 protein levels, as well as slightly reduced expression of HPS6 (<a href="/entry/607522">607522</a>), in the patient compared to control. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28296950" 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>Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15296495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15296495</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15296495" 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/j.1600-0854.2004.00208.x" target="_blank">Full Text</a>]
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</p>
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<a id="2" class="mim-anchor"></a>
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<a id="Nagase1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 6: 63-70, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10231032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10231032</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10231032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/6.1.63" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Ringeisen2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ringeisen, A. L., Schimmenti, L. A., White, J. G., Schoonveld, C., Summers, C. G.
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<strong>Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.</strong>
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J. AAPOS 17: 334-336, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23607980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23607980</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23607980" 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.jaapos.2013.02.002" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Stephen2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stephen, J., Yokoyama, T., Tolman, N. J., O'Brien, K. J., Nicoli, E.-R., Brooks, B. P., Huryn, L. Titus, S. A., Adams, D. R., Chen, D., Gahl, W. A., Gochuico, B. R., Christine, M., Malicdan, V.
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<strong>Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.</strong>
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PLoS One 12: e0173682, 2017. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28296950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28296950</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28296950[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28296950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1371/journal.pone.0173682" target="_blank">Full Text</a>]
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Summers2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Summers, C. G., Schimmenti, L. A., Sperber, S.
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<strong>Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. (Letter)</strong>
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J. AAPOS 18: 209-210, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24698632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24698632</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24698632" 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.jaapos.2014.02.002" target="_blank">Full Text</a>]
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Wixler1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wixler, V., Laplantine, E., Geerts, D., Sonnenberg, A., Petersohn, D., Eckes, B., Paulsson, M., Aumailley, M.
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<strong>Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains.</strong>
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FEBS Lett. 445: 351-355, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10094488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10094488</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10094488" 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/s0014-5793(99)00151-9" target="_blank">Full Text</a>]
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Zhang2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, Q., Zhao, B., Li, W., Oiso, N., Novak, E. K., Rusiniak, M. E., Gautam, R., Chintala, S., O'Brien, E. P., Zhang, Y., Roe, B. A., Elliott, R. W., and 9 others.
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<strong>Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.</strong>
|
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Nature Genet. 33: 145-154, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12548288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12548288</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12548288" 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/ng1087" target="_blank">Full Text</a>]
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</ol>
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<br />
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</div>
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 08/01/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 3/11/2003
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</span>
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</div>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 1/28/2003
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</span>
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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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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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<div 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 : 11/17/2022
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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 : 12/03/2020<br>carol : 08/03/2017<br>carol : 08/02/2017<br>carol : 08/01/2017<br>alopez : 07/01/2011<br>alopez : 7/1/2011<br>alopez : 6/12/2003<br>mgross : 3/13/2003<br>mgross : 3/12/2003<br>terry : 3/12/2003<br>terry : 3/11/2003<br>alopez : 1/31/2003<br>mgross : 1/28/2003<br>mgross : 1/28/2003
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</span>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 607521
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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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HPS5 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 2, SUBUNIT 2; HPS5
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<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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HPS5 GENE<br />
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RUBY-EYE 2, MOUSE, HOMOLOG OF; RU2<br />
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KIAA1017<br />
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ALPHA-INTEGRIN-BINDING PROTEIN 63; AIBP63
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: HPS5</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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<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: 11p15.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:18,278,670-18,322,174 </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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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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11p15.1
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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 5
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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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614074
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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>By screening clones obtained from a size-fractionated brain cDNA library, Nagase et al. (1999) identified HPS5 as KIAA1017. RT-PCR followed by ELISA detected ubiquitous expression, with highest levels in liver, testis, spinal cord, and thalamus. </p><p>Using a conserved cytoplasmic domain of alpha-3 integrin (605025) in a yeast 2-hybrid screen, Wixler et al. (1999) cloned HPS5, which they designated clone 63, from a placenta cDNA library. The predicted partial HPS5 sequence contains numerous putative phosphorylation sites for protein kinase A (see 176911), protein kinase C (see 176960), and casein kinase II (see 115442), as well as a putative myristoylation site. HPS5 bound all alpha-integrin chains that had an aromatic amino acid before the first lysine of the conserved KXGFFKR motif, including alpha-2 (192974), alpha-3, alpha-3B, alpha-5 (135620), and alpha-6A. </p><p>In mice there are at least 16 naturally occurring hypopigmentation models of Hermansky-Pudlak syndrome (HPS; 203300), and 9 of these have been characterized at the molecular level. Zhang et al. (2003) used positional candidate and transgenic rescue approaches to identify the genes mutated in ruby-eye-2 (ru2) and ruby-eye (ru; 607522), 2 'mimic' mouse models of HPS. They determined that these genes are orthologs of the human genes mutated in individuals with HPS5 and HPS6, respectively. Both genes are found only in higher eukaryotes. The human ru2 ortholog HPS5 contains 1,129 amino acids and is 81% identical to the mouse protein. Northern blot analysis of mouse tissues detected a 4.8-kb ru2 transcript in all tissues tested, with lowest expression in skeletal muscle and spleen. Zhang et al. (2003) concluded that ru and ru2 represent a novel class of genes that evolved in higher organisms to govern the synthesis of highly specialized lysosome-related organelles. </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>By genomic sequence analysis, Zhang et al. (2003) determined that both the mouse ru2 gene and the human HPS5 gene have 23 exons. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>By radiation hybrid analysis, Nagase et al. (1999) mapped the HPS5 gene to chromosome 11. </p><p>By genomic sequence analysis, Zhang et al. (2003) mapped the mouse ru2 gene to chromosome 7 and the human HPS5 gene to chromosome 11p15-p13. </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>By coimmunoprecipitation and yeast 2-hybrid analyses, Zhang et al. (2003) showed that the ru and ru2 proteins directly interact in a complex that they referred to as 'biogenesis of lysosome-related organelles complex-2,' or BLOC2. </p><p>By immunocytochemical analysis of LAMP3 (605883) localization in fibroblasts from patients with Hermansky-Pudlak syndrome-5 (HPS5; 614074) and truncating mutations in the HPS5 gene and from controls, Huizing et al. (2004) observed that normal fibroblasts showed a typical lysosomal punctate distribution of LAMP3 throughout the cell, to the very tips of the fibroblasts, whereas patient cells showed similar localization in the perinuclear area, but very minimal localization in the dendritic tips. The authors concluded that HPS5 plays a role in the movement of vesicles from the perinuclear region to the periphery of the cell. </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 3-year-old Turkish boy with Hermansky-Pudlak syndrome-5 (HPS5; 614074), Zhang et al. (2003) identified a homozygous 4-bp deletion (607521.0001) in the HPS5 gene. </p><p>In 4 patients with HPS5, including 2 sisters, Huizing et al. (2004) identified homozygous and compound heterozygous mutations in the HPS5 gene (see e.g., 607521.0002-607521.0004). </p><p>In a 92-year-old man with HPS5, Ringeisen et al. (2013) identified homozygosity for a 1-bp deletion in the HPS5 gene (607521.0006). </p><p>In a 27-year-old Turkish man with HPS5, Stephen et al. (2017) identified homozygosity for an intronic mutation in the HPS5 gene (607521.0007). </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>Zhang et al. (2003) stated that ru and ru2 mice are completely indistinguishable in appearance. Although lysosomal morphology is normal in both mice, kidney proximal tubule cells secrete lysosomal enzymes into urine at greatly reduced rates in both. Platelet dense granules are very deficient in critical components such as serotonin and adenine nucleotides in both, leading to functionally abnormal platelets and prolonged bleeding times. Another subcellular organelle, the mast cell granule, undergoes unregulated 'kiss-and-run' fusion at the plasma membrane of mast cells of ru mice. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 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">
|
|
<strong>.0001 HERMANSKY-PUDLAK SYNDROME 5</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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HPS5, 4-BP DEL, CODON 675, AGTT
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<br />
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SNP: rs281865103,
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ClinVar: RCV000003302
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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 3-year-old Turkish boy with Hermansky-Pudlak syndrome (HPS5; 614074), Zhang et al. (2003) identified a homozygous 4-bp deletion (AGTT) at codons leu675 to val676 in the HPS5 gene. The mutation resulted in a frameshift with truncation of the nonsense polypeptide at codon 682, causing loss of 40% of the protein at the C terminus. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 HERMANSKY-PUDLAK SYNDROME 5</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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HPS5, ARG865TER
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<br />
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SNP: rs281865104,
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gnomAD: rs281865104,
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ClinVar: RCV000021029, RCV003556063
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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 10-year-old boy of English, Irish, Dutch, and Swedish ancestry (patient 106) with Hermansky-Pudlak syndrome (HPS5; 614074), Huizing et al. (2004) identified compound heterozygosity for 2 mutations in the HPS5 gene: a c.2593C-T transition in exon 18, resulting in an arg865-to-ter (R865X) substitution, and a 1-bp deletion (c.2624delT; 607521.0003) in exon 18, causing a frameshift predicted to result in a premature termination codon. Northern blot analysis of mRNA isolated from patient fibroblasts showed reduced amounts of HPS5 transcripts, consistent with nonsense-mediated RNA decay. </p><p>Stephen et al. (2017) performed Western blot analysis in this patient and observed severely reduced HPS5 protein levels compared to control. </p>
|
|
</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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 HERMANSKY-PUDLAK SYNDROME 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
HPS5, 1-BP DEL, 2624T
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|
<br />
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|
|
SNP: rs281865105,
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|
|
gnomAD: rs281865105,
|
|
|
|
|
|
ClinVar: RCV000021030
|
|
|
|
|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion (c.2624delT) in exon 18 of the HPS5 gene, causing a frameshift predicted to result in a premature termination codon, that was found in compound heterozygous state in a boy with Hermansky-Pudlak syndrome (HPS5; 614074) by Huizing et al. (2004), see 607521.0002. </p><p>Stephen et al. (2017) stated that the c.2624delT (c.2624delT, NM_181507.1) mutation in the patient reported by Huizing et al. (2004) resulted in a frameshift and premature termination (Leu875CysfsTer20). </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 HERMANSKY-PUDLAK SYNDROME 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPS5, 1-BP DUP, 879C
|
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|
|
<br />
|
|
|
|
SNP: rs281865101,
|
|
|
|
|
|
|
|
ClinVar: RCV000021033, RCV005089293
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 21-year-old English/Irish woman (patient 113) with Hermansky-Pudlak syndrome (HPS5; 614074), Huizing et al. (2004) identified compound heterozygosity for 2 mutations in the HPS5 gene: a 1-bp insertion (c.879insC) in exon 8 of the HPS5 gene, and a 2-bp (GA) insertion (607521.0005) in exon 20, both causing frameshifts predicted to result in premature termination codons. Northern blot of mRNA isolated from patient fibroblasts showed reduced amounts of HPS5 transcripts, consistent with nonsense-mediated RNA decay. </p><p>Stephen et al. (2017) stated that the mutation in this patient reported by Huizing et al. (2004) was c.879dupC (c.879dupC, NM_181507.1), resulting in a frameshift and premature termination (Lys294GlnfsTer6). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 HERMANSKY-PUDLAK SYNDROME 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPS5, 2-BP DUP, 2928GA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397507169,
|
|
|
|
|
|
|
|
ClinVar: RCV000021031, RCV001851985
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 2-bp (GA) insertion in exon 20 of the HPS5 gene, causing a frameshift predicted to result in a premature termination codon, that was found in compound heterozygous state in a woman with Hermansky-Pudlak syndrome (HPS5; 614074) by Huizing et al. (2004), see 607521.0004. Stephen et al. (2017) stated that the mutation in this patient was c.2928_2929dupGA (c.2928_2929dupGA, NM_181507.1), resulting in a frameshift and premature termination (Thr977ArgfsTer15). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 HERMANSKY-PUDLAK SYNDROME 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPS5, 1-BP DEL, 1423C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs766602179,
|
|
|
|
|
|
gnomAD: rs766602179,
|
|
|
|
|
|
ClinVar: RCV000496925, RCV000599122, RCV000852025
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 92-year-old man with Hermansky-Pudlak syndrome (HPS5; 614074), Ringeisen et al. (2013) identified homozygosity for a 1-bp deletion in the HPS5 gene, causing a frameshift. Ringeisen et al. (2013) designated the mutation c.1081delC, based on HPS5 variant 2 (NM_007216). Summers et al. (2014) noted that the mutation based on HPS5 variant 1 is c.1423delC (c.1423delC, NM_181507.1.), resulting in a frameshift and premature termination (Leu475SerfsTer37). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HERMANSKY-PUDLAK SYNDROME 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPS5, IVS4AS, A-G, -10
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs200449378,
|
|
|
|
|
|
gnomAD: rs200449378,
|
|
|
|
|
|
ClinVar: RCV000496404, RCV001731720, RCV004767305
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 27-year-old Turkish man with Hermansky-Pudlak syndrome (HPS5; 614074), born of first-cousin parents, Stephen et al. (2017) identified homozygosity for a c.285-10A-G transition (c.285-10A-G, NM_181507.1) in intron 4 of the HPS5 gene, predicted to activate a cryptic acceptor splice site 9 nucleotides before the usual acceptor site. Sanger sequencing of patient fibroblast DNA confirmed the insertion of 9 nucleotides from the intronic region into the coding frame, predicted to result in an in-frame insertion of 3 amino acids (Ser95_Gln96insSerCysSer) in the highly conserved domain of HPS5. Parental DNA was unavailable, and the intron 4 variant was found in the ExAC database as a heterozygous change at an allele frequency of 0.0001. Relative quantification of mRNA from patient fibroblasts showed significant reductions in transcript for the 3 different isoforms of HPS5, with isoforms 1, 2, and 3 being reduced to 40%, 72%, and 65% of control levels, respectively. In addition, Western blot analysis showed severely reduced HPS5 protein levels, as well as slightly reduced expression of HPS6 (607522), in the patient compared to control. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huizing, M., Hess, R. Dorward, H., Claassen, D. A., Helip-Wooley, A., Kleta, R., Kaiser-Kupfer, M. I., White, J. G., Gahl, W. A.
|
|
<strong>Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.</strong>
|
|
Traffic 5: 711-722, 2004.
|
|
|
|
|
|
[PubMed: 15296495]
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|
[Full Text: https://doi.org/10.1111/j.1600-0854.2004.00208.x]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
|
|
<strong>Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 6: 63-70, 1999.
|
|
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|
|
[PubMed: 10231032]
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|
[Full Text: https://doi.org/10.1093/dnares/6.1.63]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Ringeisen, A. L., Schimmenti, L. A., White, J. G., Schoonveld, C., Summers, C. G.
|
|
<strong>Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.</strong>
|
|
J. AAPOS 17: 334-336, 2013.
|
|
|
|
|
|
[PubMed: 23607980]
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[Full Text: https://doi.org/10.1016/j.jaapos.2013.02.002]
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</p>
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|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Stephen, J., Yokoyama, T., Tolman, N. J., O'Brien, K. J., Nicoli, E.-R., Brooks, B. P., Huryn, L. Titus, S. A., Adams, D. R., Chen, D., Gahl, W. A., Gochuico, B. R., Christine, M., Malicdan, V.
|
|
<strong>Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.</strong>
|
|
PLoS One 12: e0173682, 2017. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 28296950]
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|
|
[Full Text: https://doi.org/10.1371/journal.pone.0173682]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Summers, C. G., Schimmenti, L. A., Sperber, S.
|
|
<strong>Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. (Letter)</strong>
|
|
J. AAPOS 18: 209-210, 2014.
|
|
|
|
|
|
[PubMed: 24698632]
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|
|
[Full Text: https://doi.org/10.1016/j.jaapos.2014.02.002]
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</p>
|
|
</li>
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wixler, V., Laplantine, E., Geerts, D., Sonnenberg, A., Petersohn, D., Eckes, B., Paulsson, M., Aumailley, M.
|
|
<strong>Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains.</strong>
|
|
FEBS Lett. 445: 351-355, 1999.
|
|
|
|
|
|
[PubMed: 10094488]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0014-5793(99)00151-9]
|
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|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zhang, Q., Zhao, B., Li, W., Oiso, N., Novak, E. K., Rusiniak, M. E., Gautam, R., Chintala, S., O'Brien, E. P., Zhang, Y., Roe, B. A., Elliott, R. W., and 9 others.
|
|
<strong>Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.</strong>
|
|
Nature Genet. 33: 145-154, 2003.
|
|
|
|
|
|
[PubMed: 12548288]
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|
|
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|
|
[Full Text: https://doi.org/10.1038/ng1087]
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</p>
|
|
</li>
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</ol>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
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Marla J. F. O'Neill - updated : 08/01/2017<br>Patricia A. Hartz - updated : 3/11/2003
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Victor A. McKusick : 1/28/2003
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alopez : 11/17/2022<br>carol : 12/03/2020<br>carol : 08/03/2017<br>carol : 08/02/2017<br>carol : 08/01/2017<br>alopez : 07/01/2011<br>alopez : 7/1/2011<br>alopez : 6/12/2003<br>mgross : 3/13/2003<br>mgross : 3/12/2003<br>terry : 3/12/2003<br>terry : 3/11/2003<br>alopez : 1/31/2003<br>mgross : 1/28/2003<br>mgross : 1/28/2003
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