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- *606682 - HPS4 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 3, SUBUNIT 2; HPS4
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- OMIM
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<p>
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<span class="h4">*606682</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="#geneFunction">Gene Function</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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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/606682">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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<li role="presentation">
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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 id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000100099;t=ENST00000398145" 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=89781" 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=606682" 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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</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=ENSG00000100099;t=ENST00000398145" 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_001349896,NM_001349898,NM_001349899,NM_001349900,NM_001349901,NM_001349902,NM_001349903,NM_001349904,NM_001349905,NM_001410832,NM_022081,NM_152841,NR_073135,NR_073136,NR_146311,NR_146312,NR_146313,NR_146314,NR_146315,NR_146316,XM_011530486,XM_011530490,XM_011530495,XM_011530496,XM_017029046,XM_017029053,XM_047441561,XM_047441562,XM_047441563,XM_047441564,XM_047441565,XM_047441566,XM_047441567,XM_047441568,XM_047441569,XM_047441571,XM_047441572,XM_047441573,XM_047441574,XM_047441575,XM_047441576,XM_047441577,XM_047441578,XM_047441579,XM_047441580,XM_047441581,XM_047441582,XM_047441583,XM_047441584,XR_001755361,XR_001755364,XR_007067983,XR_007067984,XR_007067985,XR_007067986,XR_007067987,XR_007067988,XR_007067989" 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_022081" 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=606682" 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=05983&isoform_id=05983_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/HPS4" 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/9188412,13359207,16553408,19550982,19584556,21362617,23110966,23110970,40675511,47678315,55975207,119580121,119580122,119580123,119580124,158261445,169145582,193787846,768026281,768026299,768026324,768026327,1034629798,1034629813,1169292786,1169292788,1169292800,1169292815,1169292840,1169292848,1169292854,1169292874,1169292879,2217340398,2217340400,2217340402,2217340407,2217340411,2217340413,2217340415,2217340418,2217340420,2217340425,2217340427,2217340429,2217340431,2217340433,2217340435,2217340437,2217340440,2217340442,2217340444,2217340446,2217340448,2217340451,2217340457,2287254671,2462585801,2462585803,2462585805,2462585808,2462585810,2462585812,2462585814,2462585817,2462585819,2462585821,2462585826,2462585830,2462585832,2462585834,2462585836,2462585838,2462585840,2462585843,2462585845,2462585847,2462585849,2462585852,2462585854,2462585856,2462585858,2462585860,2462585863" 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/Q9NQG7" 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=89781" 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=ENSG00000100099;t=ENST00000398145" 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=HPS4" 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=HPS4" 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+89781" 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/HPS4" 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:89781" 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/89781" 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=chr22&hgg_gene=ENST00000398145.7&hgg_start=26443109&hgg_end=26483863&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:15844" 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=606682[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=606682[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/ENSG00000100099" 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=HPS4" 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=HPS4" 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=HPS4" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/HPS4" title="Hermansky-Pudlak syndrome 4 (HPS4)" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Hermansky-Pudlak syndrome …</a></div><div style="margin-left: 0.5em;"><a href="http://www.retina-international.org/files/sci-news/lemut.htm" title="Mutations of the Human light ear Gene (le, HPS4)" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Mutations of the Human lig…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=HPS4&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/PA29434" 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:15844" 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/FBgn0034261.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:2177742" 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/HPS4#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:2177742" 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/89781/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=89781" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1068" 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=HPS4&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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606682
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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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HPS4 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 3, SUBUNIT 2; HPS4
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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HPS4 GENE<br />
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LIGHT EAR, MOUSE, HOMOLOG OF; LE
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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=HPS4" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HPS4</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/22/130?start=-3&limit=10&highlight=130">22q12.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr22:26443109-26483863&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'})">22:26,443,109-26,483,863</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/22/130?start=-3&limit=10&highlight=130">
|
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22q12.1
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Hermansky-Pudlak syndrome 4
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/614073"> 614073 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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<p>In the mouse, more than 15 loci manifest mutant phenotypes similar to human Hermansky-Pudlak syndrome (<a href="/entry/203300">203300</a>), including 'pale ear' (ep), the mouse homolog of HPS1 (<a href="/entry/604982">604982</a>), which is mutant in one form of Hermansky-Pudlak syndrome. Mouse ep has a phenotype identical to that of another mutant, 'light ear' (le) (<a href="#4" class="mim-tip-reference" title="Lane, P. W., Green, E. L. <strong>Pale ear and light ear in the house mouse: mimic mutations in linkage groups XII and XVII.</strong> J. Hered. 58: 17-20, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6031677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6031677</a>] [<a href="https://doi.org/10.1093/oxfordjournals.jhered.a107529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6031677">Lane and Green, 1967</a>), which suggested that the human homolog of le is a possible human HPS locus. <a href="#6" class="mim-tip-reference" title="Suzuki, T., Li, W., Zhang, Q., Karim, A., Novak, E. K., Sviderskaya, E. V., Hill, S. P., Bennett, D. C., Levin, A. V., Nieuwenhuis, H. K., Fong, C.-T., Castellan, C., Miterski, B., Swank, R. T., Spritz, R. A. <strong>Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.</strong> Nature Genet. 30: 321-324, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11836498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11836498</a>] [<a href="https://doi.org/10.1038/ng835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11836498">Suzuki et al. (2002)</a> identified the human le homolog, HPS4, and found mutations in that gene in a number of non-Puerto Rican individuals with HPS. In addition to their identical phenotypes, le and ep mutant mice have identical abnormalities of melanosomes, and in transfected melanoma cells, the HPS4 and HPS1 proteins partially colocalize in vesicles of the cell body. In addition, the HPS1 protein is absent in tissues of le mutant mice. These results suggested that the HPS4 and HPS1 proteins function in the same pathway of organelle biogenesis. <a href="#6" class="mim-tip-reference" title="Suzuki, T., Li, W., Zhang, Q., Karim, A., Novak, E. K., Sviderskaya, E. V., Hill, S. P., Bennett, D. C., Levin, A. V., Nieuwenhuis, H. K., Fong, C.-T., Castellan, C., Miterski, B., Swank, R. T., Spritz, R. A. <strong>Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.</strong> Nature Genet. 30: 321-324, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11836498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11836498</a>] [<a href="https://doi.org/10.1038/ng835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11836498">Suzuki et al. (2002)</a> found that the full-length human HPS4 cDNA encodes a polypeptide of 708 amino acids with an apparent molecular weight of 76.9 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11836498+6031677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Anderson, P. D., Huizing, M., Claassen, D. A., White, J., Gahl, W. A. <strong>Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.</strong> Hum. Genet. 113: 10-17, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12664304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12664304</a>] [<a href="https://doi.org/10.1007/s00439-003-0933-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12664304">Anderson et al. (2003)</a> found that the HPS4 gene produces at least 2 alternatively spliced mRNA transcripts that differ at their 5-prime ends. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12664304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Martina, J. A., Moriyama, K., Bonifacino, J. S. <strong>BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.</strong> J. Biol. Chem. 278: 29376-29384, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12756248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12756248</a>] [<a href="https://doi.org/10.1074/jbc.M301294200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12756248">Martina et al. (2003)</a> determined that HPS1 and HPS4 form a lysosomal complex that they termed BLOC3 (biogenesis of lysosome-related organelles complex-3). Coimmunoprecipitation experiments demonstrated that epitope-tagged and endogenous HPS1 and HPS4 proteins assembled with each other in vivo. The complex was predominantly cytosolic, with a small amount peripherally associated with membranes. Size exclusion chromatography and sedimentation velocity analysis of the cytosolic fraction indicated that HPS1 and HPS4 formed a moderately asymmetric complex with a molecular mass of about 175 kD. Hps4-deficient fibroblasts from light ear mice displayed normal distribution and trafficking of a lysosomal protein and an apparently normal accumulation of Zn(2+) in intracellular vesicles. In contrast, fibroblasts of AP3 (see AP3B1; <a href="/entry/603401">603401</a>)-deficient pearl mice showed deficits in both of these measures. <a href="#5" class="mim-tip-reference" title="Martina, J. A., Moriyama, K., Bonifacino, J. S. <strong>BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.</strong> J. Biol. Chem. 278: 29376-29384, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12756248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12756248</a>] [<a href="https://doi.org/10.1074/jbc.M301294200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12756248">Martina et al. (2003)</a> concluded that HPS1 and HPS4 are components of a cytosolic complex that is involved in the biogenesis of lysosomal-related organelles through a mechanism distinct from that operated by the AP3 complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12756248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Suzuki, T., Li, W., Zhang, Q., Karim, A., Novak, E. K., Sviderskaya, E. V., Hill, S. P., Bennett, D. C., Levin, A. V., Nieuwenhuis, H. K., Fong, C.-T., Castellan, C., Miterski, B., Swank, R. T., Spritz, R. A. <strong>Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.</strong> Nature Genet. 30: 321-324, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11836498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11836498</a>] [<a href="https://doi.org/10.1038/ng835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11836498">Suzuki et al. (2002)</a> found that the HPS4 gene contains 13 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11836498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The mouse le locus had been mapped to chromosome 5. <a href="#6" class="mim-tip-reference" title="Suzuki, T., Li, W., Zhang, Q., Karim, A., Novak, E. K., Sviderskaya, E. V., Hill, S. P., Bennett, D. C., Levin, A. V., Nieuwenhuis, H. K., Fong, C.-T., Castellan, C., Miterski, B., Swank, R. T., Spritz, R. A. <strong>Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.</strong> Nature Genet. 30: 321-324, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11836498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11836498</a>] [<a href="https://doi.org/10.1038/ng835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11836498">Suzuki et al. (2002)</a> subjected BACs spanning the le region to exon-trapping and compared sequences with genomic and expressed sequence tag (EST) databases. With availability of the complete DNA sequence of human chromosome 22, it was shown that the organization of the le region of mouse chromosome 5 and human 22q11.2-q12.2 is essentially identical. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11836498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 11/26/2014."None>Gross (2014)</a> mapped the HPS4 gene to chromosome 22q12.1 based on an alignment of the HPS4 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC065030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC065030</a>) with the genomic sequence (GRCh38).</p>
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<p><a href="#6" class="mim-tip-reference" title="Suzuki, T., Li, W., Zhang, Q., Karim, A., Novak, E. K., Sviderskaya, E. V., Hill, S. P., Bennett, D. C., Levin, A. V., Nieuwenhuis, H. K., Fong, C.-T., Castellan, C., Miterski, B., Swank, R. T., Spritz, R. A. <strong>Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.</strong> Nature Genet. 30: 321-324, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11836498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11836498</a>] [<a href="https://doi.org/10.1038/ng835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11836498">Suzuki et al. (2002)</a> demonstrated that the le mouse has a gln50-to-ter (Q50X, CAG-TAG) nonsense mutation in the Hps4 protein. In 7 European patients with Hermansky-Pudlak syndrome-4 (HPS4; <a href="/entry/614073">614073</a>), <a href="#6" class="mim-tip-reference" title="Suzuki, T., Li, W., Zhang, Q., Karim, A., Novak, E. K., Sviderskaya, E. V., Hill, S. P., Bennett, D. C., Levin, A. V., Nieuwenhuis, H. K., Fong, C.-T., Castellan, C., Miterski, B., Swank, R. T., Spritz, R. A. <strong>Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.</strong> Nature Genet. 30: 321-324, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11836498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11836498</a>] [<a href="https://doi.org/10.1038/ng835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11836498">Suzuki et al. (2002)</a> identified 5 different causative mutations in the HPS4 gene (<a href="#0001">606682.0001</a>-<a href="#0005">606682.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11836498" 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 22 patients with HPS who were negative for mutation in 3 HPS-associated genes, <a href="#1" class="mim-tip-reference" title="Anderson, P. D., Huizing, M., Claassen, D. A., White, J., Gahl, W. A. <strong>Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.</strong> Hum. Genet. 113: 10-17, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12664304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12664304</a>] [<a href="https://doi.org/10.1007/s00439-003-0933-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12664304">Anderson et al. (2003)</a> screened for mutations in the HPS4 gene by SSCP analysis and/or direct sequencing and identified homozygous or compound heterozygous mutations, including the previously reported frameshift insertion (<a href="#0002">606682.0002</a>) in 2 patients, as well as 3 nonsense mutations (<a href="#0006">606682.0006</a>-<a href="#0008">606682.0008</a>) and a missense mutation (H154R; <a href="#0010">606682.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12664304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bachli, E. B., Brack, T., Eppler, E., Stallmach, T., Trueb, R. M., Huizing, M., Gahl, W. A. <strong>Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.</strong> Am. J. Med. Genet. 127A: 201-207, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15108212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15108212</a>] [<a href="https://doi.org/10.1002/ajmg.a.20683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15108212">Bachli et al. (2004)</a> reported a patient from Sri Lanka who had oculocutaneous albinism and severe pulmonary fibrosis without granulomatous colitis in whom they identified a novel frameshift mutation (<a href="#0009">606682.0009</a>) in the HPS4 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15108212" 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">rs119471021 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119471021;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=rs119471021" 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=rs119471021" 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=RCV000004341 OR RCV003555912" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004341, RCV003555912" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004341...</a>
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<p>In a patient with Hermansky-Pudlak syndrome (HPS4; <a href="/entry/614073">614073</a>) from Germany (South Tyrol), <a href="#6" class="mim-tip-reference" title="Suzuki, T., Li, W., Zhang, Q., Karim, A., Novak, E. K., Sviderskaya, E. V., Hill, S. P., Bennett, D. C., Levin, A. V., Nieuwenhuis, H. K., Fong, C.-T., Castellan, C., Miterski, B., Swank, R. T., Spritz, R. A. <strong>Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.</strong> Nature Genet. 30: 321-324, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11836498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11836498</a>] [<a href="https://doi.org/10.1038/ng835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11836498">Suzuki et al. (2002)</a> found homozygosity for a gln631-to-ter (Q631X; CAG-TAG) nonsense mutation in the HPS4 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11836498" 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">rs281865100 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865100;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=rs281865100" 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=rs281865100" 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=RCV000004342" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004342" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004342</a>
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<p>In a German patient with Hermansky-Pudlak syndrome (HPS4; <a href="/entry/614073">614073</a>), <a href="#6" class="mim-tip-reference" title="Suzuki, T., Li, W., Zhang, Q., Karim, A., Novak, E. K., Sviderskaya, E. V., Hill, S. P., Bennett, D. C., Levin, A. V., Nieuwenhuis, H. K., Fong, C.-T., Castellan, C., Miterski, B., Swank, R. T., Spritz, R. A. <strong>Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.</strong> Nature Genet. 30: 321-324, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11836498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11836498</a>] [<a href="https://doi.org/10.1038/ng835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11836498">Suzuki et al. (2002)</a> found homozygosity for a 5-bp (AAGCA) insertion at codon gln698 of the HPS4 gene, causing a frameshift. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11836498" 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 61-year-old Hungarian man (patient 95) with HPS, <a href="#1" class="mim-tip-reference" title="Anderson, P. D., Huizing, M., Claassen, D. A., White, J., Gahl, W. A. <strong>Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.</strong> Hum. Genet. 113: 10-17, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12664304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12664304</a>] [<a href="https://doi.org/10.1007/s00439-003-0933-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12664304">Anderson et al. (2003)</a> identified homozygosity for the AAGCA insertion in the HPS4 gene. In addition, they detected heterozygosity for the variant in a 3-year-old boy (patient 27) of mixed European ancestry with HPS. The authors were unable to find a second mutation in the latter patient in the coding region or intron/exon boundaries of HPS4, and suggested that he might have an intronic mutation or a mutation in the promoter region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12664304" 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 4</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">rs281865097 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865097;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=rs281865097" 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=rs281865097" 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=RCV000004343" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004343" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004343</a>
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<p>In a patient from northern Europe with Hermansky-Pudlak syndrome (HPS4; <a href="/entry/614073">614073</a>), <a href="#6" class="mim-tip-reference" title="Suzuki, T., Li, W., Zhang, Q., Karim, A., Novak, E. K., Sviderskaya, E. V., Hill, S. P., Bennett, D. C., Levin, A. V., Nieuwenhuis, H. K., Fong, C.-T., Castellan, C., Miterski, B., Swank, R. T., Spritz, R. A. <strong>Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.</strong> Nature Genet. 30: 321-324, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11836498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11836498</a>] [<a href="https://doi.org/10.1038/ng835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11836498">Suzuki et al. (2002)</a> found a 1-bp deletion (T) from codon phe19 of the HPS4 gene, causing a frameshift. The deletion was present in heterozygous state; no mutation in the second allele was found, most likely reflecting either incomplete sensitivity of the SSCP/heteroduplex mutation screening method, or the occurrence of the mutation in the promoter or intervening sequences beyond the regions subjected to mutation screening. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11836498" 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>.0004 HERMANSKY-PUDLAK SYNDROME 4</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">rs119471022 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119471022;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=rs119471022" 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=rs119471022" 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=RCV000004344" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004344" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004344</a>
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<p>In patients with Hermansky-Pudlak syndrome (HPS4; <a href="/entry/614073">614073</a>) from 3 presumably unrelated families, one of them consanguineous, in southern Italy, <a href="#6" class="mim-tip-reference" title="Suzuki, T., Li, W., Zhang, Q., Karim, A., Novak, E. K., Sviderskaya, E. V., Hill, S. P., Bennett, D. C., Levin, A. V., Nieuwenhuis, H. K., Fong, C.-T., Castellan, C., Miterski, B., Swank, R. T., Spritz, R. A. <strong>Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.</strong> Nature Genet. 30: 321-324, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11836498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11836498</a>] [<a href="https://doi.org/10.1038/ng835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11836498">Suzuki et al. (2002)</a> found a gln181-to-ter (Q181X, CAG-TAG) nonsense mutation in the HPS4 gene in homozygous state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11836498" 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> rs281865164 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865164;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/rs281865164?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=rs281865164" 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=rs281865164" 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=RCV000004345 OR RCV001851643 OR RCV003488323" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004345, RCV001851643, RCV003488323" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004345...</a>
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<p>In a Dutch family, <a href="#6" class="mim-tip-reference" title="Suzuki, T., Li, W., Zhang, Q., Karim, A., Novak, E. K., Sviderskaya, E. V., Hill, S. P., Bennett, D. C., Levin, A. V., Nieuwenhuis, H. K., Fong, C.-T., Castellan, C., Miterski, B., Swank, R. T., Spritz, R. A. <strong>Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.</strong> Nature Genet. 30: 321-324, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11836498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11836498</a>] [<a href="https://doi.org/10.1038/ng835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11836498">Suzuki et al. (2002)</a> found that multiple members with Hermansky-Pudlak syndrome (HPS4; <a href="/entry/614073">614073</a>) were heterozygous for a 24-bp tandem duplication of the HPS4 gene. Amino acids ala316 through glu323 were duplicated. No mutation in the second allele was found, most likely reflecting either incomplete sensitivity of the SSCP/heteroduplex mutation screening method, or the occurrence of a mutation in the promoter or intervening sequences beyond the regions subjected to mutation screening. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11836498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 HERMANSKY-PUDLAK SYNDROME 4</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> rs119471023 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119471023;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/rs119471023?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=rs119471023" 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=rs119471023" 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=RCV000004346 OR RCV001851644 OR RCV004584314 OR RCV004799731" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004346, RCV001851644, RCV004584314, RCV004799731" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004346...</a>
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<p>In a 61-year-old Hungarian man (patient 95) with Hermansky-Pudlak syndrome (HPS4; <a href="/entry/614073">614073</a>), <a href="#1" class="mim-tip-reference" title="Anderson, P. D., Huizing, M., Claassen, D. A., White, J., Gahl, W. A. <strong>Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.</strong> Hum. Genet. 113: 10-17, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12664304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12664304</a>] [<a href="https://doi.org/10.1007/s00439-003-0933-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12664304">Anderson et al. (2003)</a> identified homozygosity for an 837C-T transition in exon 8 of the HPS4 gene, resulting in an arg217-to-ter (R217X) substitution. The R217X variant was also identified in 2 brothers with HPS who were of English and Polish origin (patients 30 and 38) and carried the mutation in compound heterozygosity with a 694A-G transition in exon 8, resulting in a his154-to-arg (H154R; <a href="#0010">606682.0010</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12664304" 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>.0007 HERMANSKY-PUDLAK SYNDROME 4</strong>
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HPS4, GLU138TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs119471024 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119471024;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=rs119471024" 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=rs119471024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004347" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004347" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004347</a>
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<span class="mim-text-font">
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<p>In 2 Indian sisters (patients 36 and 37) with Hermansky-Pudlak syndrome (HPS4; <a href="/entry/614073">614073</a>), <a href="#1" class="mim-tip-reference" title="Anderson, P. D., Huizing, M., Claassen, D. A., White, J., Gahl, W. A. <strong>Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.</strong> Hum. Genet. 113: 10-17, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12664304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12664304</a>] [<a href="https://doi.org/10.1007/s00439-003-0933-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12664304">Anderson et al. (2003)</a> identified compound heterozygosity for 2 nonsense mutations in the HPS4 gene: a 600G-T transversion in exon 6, resulting in a glu138-to-ter (E138X) substitution, and an 852G-T transversion in exon 8, resulting in a glu222-to-ter (E222X; <a href="#0008">606682.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12664304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>.0008 HERMANSKY-PUDLAK SYNDROME 4</strong>
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</h4>
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HPS4, GLU222TER
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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> rs119471025 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119471025;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/rs119471025?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=rs119471025" 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=rs119471025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004348" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004348" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004348</a>
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</span>
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<span class="mim-text-font">
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<p>For discussion of the 852G-T transversion in exon 8 of the HPS4 gene, resulting in a glu222-to-ter (E222X) substitution, that was found in compound heterozygous state in 2 Indian sisters with Hermansky-Pudlak syndrome (HPS4; <a href="/entry/614073">614073</a>) by <a href="#1" class="mim-tip-reference" title="Anderson, P. D., Huizing, M., Claassen, D. A., White, J., Gahl, W. A. <strong>Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.</strong> Hum. Genet. 113: 10-17, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12664304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12664304</a>] [<a href="https://doi.org/10.1007/s00439-003-0933-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12664304">Anderson et al. (2003)</a>, see <a href="#0007">606682.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12664304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0009 HERMANSKY-PUDLAK SYNDROME 4</strong>
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</span>
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</h4>
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HPS4, 1-BP DEL, C, CODON 685
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</div>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2146241760 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2146241760;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=rs2146241760" 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=rs2146241760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002245423" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002245423" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002245423</a>
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<p>In a Sri Lankan patient with Hermansky-Pudlak syndrome (HPS4; <a href="/entry/614073">614073</a>), <a href="#2" class="mim-tip-reference" title="Bachli, E. B., Brack, T., Eppler, E., Stallmach, T., Trueb, R. M., Huizing, M., Gahl, W. A. <strong>Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.</strong> Am. J. Med. Genet. 127A: 201-207, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15108212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15108212</a>] [<a href="https://doi.org/10.1002/ajmg.a.20683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15108212">Bachli et al. (2004)</a> identified homozygosity for a 1-bp deletion (C) at codon 685 (P685delC) of the HPS4 gene, resulting in a frameshift and an early termination codon approximately 21 bp upstream of the normal stop site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15108212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0010" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0010 HERMANSKY-PUDLAK SYNDROME 4</strong>
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HPS4, HIS154ARG
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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> rs281865098 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865098;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/rs281865098?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=rs281865098" 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=rs281865098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020872 OR RCV004799749" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020872, RCV004799749" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020872...</a>
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<span class="mim-text-font">
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<p>For discussion of the 649A-G transition in exon 6 of the HPS4 gene, resulting in a his154-to-arg (H154R) substitution, that was found in compound heterozygous state in 2 brothers with Hermansky-Pudlak syndrome (HPS4; <a href="/entry/614073">614073</a>) by <a href="#1" class="mim-tip-reference" title="Anderson, P. D., Huizing, M., Claassen, D. A., White, J., Gahl, W. A. <strong>Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.</strong> Hum. Genet. 113: 10-17, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12664304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12664304</a>] [<a href="https://doi.org/10.1007/s00439-003-0933-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12664304">Anderson et al. (2003)</a>, see <a href="#0006">606682.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12664304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Anderson, P. D., Huizing, M., Claassen, D. A., White, J., Gahl, W. A.
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<strong>Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.</strong>
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Hum. Genet. 113: 10-17, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12664304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12664304</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12664304" 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/10.1007/s00439-003-0933-5" target="_blank">Full Text</a>]
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Bachli2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Bachli, E. B., Brack, T., Eppler, E., Stallmach, T., Trueb, R. M., Huizing, M., Gahl, W. A.
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<strong>Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.</strong>
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Am. J. Med. Genet. 127A: 201-207, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15108212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15108212</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15108212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20683" 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="Gross2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/26/2014.
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Lane1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lane, P. W., Green, E. L.
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<strong>Pale ear and light ear in the house mouse: mimic mutations in linkage groups XII and XVII.</strong>
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J. Hered. 58: 17-20, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6031677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6031677</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6031677" 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/oxfordjournals.jhered.a107529" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Martina2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Martina, J. A., Moriyama, K., Bonifacino, J. S.
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<strong>BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.</strong>
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J. Biol. Chem. 278: 29376-29384, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12756248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12756248</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12756248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M301294200" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Suzuki2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Suzuki, T., Li, W., Zhang, Q., Karim, A., Novak, E. K., Sviderskaya, E. V., Hill, S. P., Bennett, D. C., Levin, A. V., Nieuwenhuis, H. K., Fong, C.-T., Castellan, C., Miterski, B., Swank, R. T., Spritz, R. A.
|
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<strong>Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.</strong>
|
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Nature Genet. 30: 321-324, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11836498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11836498</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11836498" 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/ng835" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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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="contributors" 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="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 07/27/2017
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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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Matthew B. Gross - updated : 11/26/2014<br>Marla J. F. O'Neill - updated : 6/30/2004<br>Patricia A. Hartz - updated : 10/10/2003<br>Victor A. McKusick - updated : 6/10/2003
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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 : 2/11/2002
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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="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>
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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 : 07/27/2017<br>carol : 09/17/2015<br>mcolton : 8/18/2015<br>mgross : 11/26/2014<br>alopez : 7/1/2011<br>alopez : 6/30/2011<br>carol : 7/1/2004<br>terry : 6/30/2004<br>mgross : 11/7/2003<br>mgross : 10/10/2003<br>cwells : 6/10/2003<br>terry : 6/10/2003<br>tkritzer : 4/30/2003<br>carol : 3/13/2003<br>terry : 3/12/2003<br>alopez : 3/12/2002<br>alopez : 2/11/2002
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</span>
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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>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 606682
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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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HPS4 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 3, SUBUNIT 2; HPS4
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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HPS4 GENE<br />
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LIGHT EAR, MOUSE, HOMOLOG OF; LE
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</span>
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</h4>
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: HPS4</em></strong>
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</span>
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</p>
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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: 22q12.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 22:26,443,109-26,483,863 </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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<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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22q12.1
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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 4
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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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614073
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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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</td>
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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>TEXT</strong>
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</span>
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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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</h4>
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</div>
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<span class="mim-text-font">
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<p>In the mouse, more than 15 loci manifest mutant phenotypes similar to human Hermansky-Pudlak syndrome (203300), including 'pale ear' (ep), the mouse homolog of HPS1 (604982), which is mutant in one form of Hermansky-Pudlak syndrome. Mouse ep has a phenotype identical to that of another mutant, 'light ear' (le) (Lane and Green, 1967), which suggested that the human homolog of le is a possible human HPS locus. Suzuki et al. (2002) identified the human le homolog, HPS4, and found mutations in that gene in a number of non-Puerto Rican individuals with HPS. In addition to their identical phenotypes, le and ep mutant mice have identical abnormalities of melanosomes, and in transfected melanoma cells, the HPS4 and HPS1 proteins partially colocalize in vesicles of the cell body. In addition, the HPS1 protein is absent in tissues of le mutant mice. These results suggested that the HPS4 and HPS1 proteins function in the same pathway of organelle biogenesis. Suzuki et al. (2002) found that the full-length human HPS4 cDNA encodes a polypeptide of 708 amino acids with an apparent molecular weight of 76.9 kD. </p><p>Anderson et al. (2003) found that the HPS4 gene produces at least 2 alternatively spliced mRNA transcripts that differ at their 5-prime ends. </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>Martina et al. (2003) determined that HPS1 and HPS4 form a lysosomal complex that they termed BLOC3 (biogenesis of lysosome-related organelles complex-3). Coimmunoprecipitation experiments demonstrated that epitope-tagged and endogenous HPS1 and HPS4 proteins assembled with each other in vivo. The complex was predominantly cytosolic, with a small amount peripherally associated with membranes. Size exclusion chromatography and sedimentation velocity analysis of the cytosolic fraction indicated that HPS1 and HPS4 formed a moderately asymmetric complex with a molecular mass of about 175 kD. Hps4-deficient fibroblasts from light ear mice displayed normal distribution and trafficking of a lysosomal protein and an apparently normal accumulation of Zn(2+) in intracellular vesicles. In contrast, fibroblasts of AP3 (see AP3B1; 603401)-deficient pearl mice showed deficits in both of these measures. Martina et al. (2003) concluded that HPS1 and HPS4 are components of a cytosolic complex that is involved in the biogenesis of lysosomal-related organelles through a mechanism distinct from that operated by the AP3 complex. </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>Suzuki et al. (2002) found that the HPS4 gene contains 13 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>The mouse le locus had been mapped to chromosome 5. Suzuki et al. (2002) subjected BACs spanning the le region to exon-trapping and compared sequences with genomic and expressed sequence tag (EST) databases. With availability of the complete DNA sequence of human chromosome 22, it was shown that the organization of the le region of mouse chromosome 5 and human 22q11.2-q12.2 is essentially identical. </p><p>Gross (2014) mapped the HPS4 gene to chromosome 22q12.1 based on an alignment of the HPS4 sequence (GenBank BC065030) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Suzuki et al. (2002) demonstrated that the le mouse has a gln50-to-ter (Q50X, CAG-TAG) nonsense mutation in the Hps4 protein. In 7 European patients with Hermansky-Pudlak syndrome-4 (HPS4; 614073), Suzuki et al. (2002) identified 5 different causative mutations in the HPS4 gene (606682.0001-606682.0005). </p><p>In 22 patients with HPS who were negative for mutation in 3 HPS-associated genes, Anderson et al. (2003) screened for mutations in the HPS4 gene by SSCP analysis and/or direct sequencing and identified homozygous or compound heterozygous mutations, including the previously reported frameshift insertion (606682.0002) in 2 patients, as well as 3 nonsense mutations (606682.0006-606682.0008) and a missense mutation (H154R; 606682.0010). </p><p>Bachli et al. (2004) reported a patient from Sri Lanka who had oculocutaneous albinism and severe pulmonary fibrosis without granulomatous colitis in whom they identified a novel frameshift mutation (606682.0009) in the HPS4 gene. </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>10 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0001 HERMANSKY-PUDLAK SYNDROME 4</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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|
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|
HPS4, GLN631TER
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<br />
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|
SNP: rs119471021,
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|
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ClinVar: RCV000004341, RCV003555912
|
|
|
|
|
|
</span>
|
|
</div>
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|
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a patient with Hermansky-Pudlak syndrome (HPS4; 614073) from Germany (South Tyrol), Suzuki et al. (2002) found homozygosity for a gln631-to-ter (Q631X; CAG-TAG) nonsense mutation in the HPS4 gene. </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>.0002 HERMANSKY-PUDLAK SYNDROME 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPS4, 5-BP INS, CODON 698
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<br />
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|
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|
SNP: rs281865100,
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|
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ClinVar: RCV000004342
|
|
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|
|
|
</span>
|
|
</div>
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a German patient with Hermansky-Pudlak syndrome (HPS4; 614073), Suzuki et al. (2002) found homozygosity for a 5-bp (AAGCA) insertion at codon gln698 of the HPS4 gene, causing a frameshift. </p><p>In a 61-year-old Hungarian man (patient 95) with HPS, Anderson et al. (2003) identified homozygosity for the AAGCA insertion in the HPS4 gene. In addition, they detected heterozygosity for the variant in a 3-year-old boy (patient 27) of mixed European ancestry with HPS. The authors were unable to find a second mutation in the latter patient in the coding region or intron/exon boundaries of HPS4, and suggested that he might have an intronic mutation or a mutation in the promoter region. </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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|
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|
<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 HERMANSKY-PUDLAK SYNDROME 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPS4, 1-BP DEL, CODON 19
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<br />
|
|
|
|
SNP: rs281865097,
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|
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|
|
|
|
|
ClinVar: RCV000004343
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient from northern Europe with Hermansky-Pudlak syndrome (HPS4; 614073), Suzuki et al. (2002) found a 1-bp deletion (T) from codon phe19 of the HPS4 gene, causing a frameshift. The deletion was present in heterozygous state; no mutation in the second allele was found, most likely reflecting either incomplete sensitivity of the SSCP/heteroduplex mutation screening method, or the occurrence of the mutation in the promoter or intervening sequences beyond the regions subjected to mutation screening. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 HERMANSKY-PUDLAK SYNDROME 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPS4, GLN181TER
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs119471022,
|
|
|
|
|
|
|
|
ClinVar: RCV000004344
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In patients with Hermansky-Pudlak syndrome (HPS4; 614073) from 3 presumably unrelated families, one of them consanguineous, in southern Italy, Suzuki et al. (2002) found a gln181-to-ter (Q181X, CAG-TAG) nonsense mutation in the HPS4 gene in homozygous state. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 HERMANSKY-PUDLAK SYNDROME 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPS4, 24-BP DUP
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs281865164,
|
|
|
|
|
|
gnomAD: rs281865164,
|
|
|
|
|
|
ClinVar: RCV000004345, RCV001851643, RCV003488323
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Dutch family, Suzuki et al. (2002) found that multiple members with Hermansky-Pudlak syndrome (HPS4; 614073) were heterozygous for a 24-bp tandem duplication of the HPS4 gene. Amino acids ala316 through glu323 were duplicated. No mutation in the second allele was found, most likely reflecting either incomplete sensitivity of the SSCP/heteroduplex mutation screening method, or the occurrence of a mutation in the promoter or intervening sequences beyond the regions subjected to mutation screening. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 HERMANSKY-PUDLAK SYNDROME 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPS4, ARG217TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs119471023,
|
|
|
|
|
|
gnomAD: rs119471023,
|
|
|
|
|
|
ClinVar: RCV000004346, RCV001851644, RCV004584314, RCV004799731
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 61-year-old Hungarian man (patient 95) with Hermansky-Pudlak syndrome (HPS4; 614073), Anderson et al. (2003) identified homozygosity for an 837C-T transition in exon 8 of the HPS4 gene, resulting in an arg217-to-ter (R217X) substitution. The R217X variant was also identified in 2 brothers with HPS who were of English and Polish origin (patients 30 and 38) and carried the mutation in compound heterozygosity with a 694A-G transition in exon 8, resulting in a his154-to-arg (H154R; 606682.0010) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HERMANSKY-PUDLAK SYNDROME 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPS4, GLU138TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs119471024,
|
|
|
|
|
|
|
|
ClinVar: RCV000004347
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Indian sisters (patients 36 and 37) with Hermansky-Pudlak syndrome (HPS4; 614073), Anderson et al. (2003) identified compound heterozygosity for 2 nonsense mutations in the HPS4 gene: a 600G-T transversion in exon 6, resulting in a glu138-to-ter (E138X) substitution, and an 852G-T transversion in exon 8, resulting in a glu222-to-ter (E222X; 606682.0008). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 HERMANSKY-PUDLAK SYNDROME 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPS4, GLU222TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs119471025,
|
|
|
|
|
|
gnomAD: rs119471025,
|
|
|
|
|
|
ClinVar: RCV000004348
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 852G-T transversion in exon 8 of the HPS4 gene, resulting in a glu222-to-ter (E222X) substitution, that was found in compound heterozygous state in 2 Indian sisters with Hermansky-Pudlak syndrome (HPS4; 614073) by Anderson et al. (2003), see 606682.0007. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 HERMANSKY-PUDLAK SYNDROME 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPS4, 1-BP DEL, C, CODON 685
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2146241760,
|
|
|
|
|
|
|
|
ClinVar: RCV002245423
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Sri Lankan patient with Hermansky-Pudlak syndrome (HPS4; 614073), Bachli et al. (2004) identified homozygosity for a 1-bp deletion (C) at codon 685 (P685delC) of the HPS4 gene, resulting in a frameshift and an early termination codon approximately 21 bp upstream of the normal stop site. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 HERMANSKY-PUDLAK SYNDROME 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPS4, HIS154ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281865098,
|
|
|
|
|
|
gnomAD: rs281865098,
|
|
|
|
|
|
ClinVar: RCV000020872, RCV004799749
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 649A-G transition in exon 6 of the HPS4 gene, resulting in a his154-to-arg (H154R) substitution, that was found in compound heterozygous state in 2 brothers with Hermansky-Pudlak syndrome (HPS4; 614073) by Anderson et al. (2003), see 606682.0006. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Anderson, P. D., Huizing, M., Claassen, D. A., White, J., Gahl, W. A.
|
|
<strong>Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.</strong>
|
|
Hum. Genet. 113: 10-17, 2003.
|
|
|
|
|
|
[PubMed: 12664304]
|
|
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|
|
[Full Text: https://doi.org/10.1007/s00439-003-0933-5]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bachli, E. B., Brack, T., Eppler, E., Stallmach, T., Trueb, R. M., Huizing, M., Gahl, W. A.
|
|
<strong>Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.</strong>
|
|
Am. J. Med. Genet. 127A: 201-207, 2004.
|
|
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|
|
[PubMed: 15108212]
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[Full Text: https://doi.org/10.1002/ajmg.a.20683]
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 11/26/2014.
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lane, P. W., Green, E. L.
|
|
<strong>Pale ear and light ear in the house mouse: mimic mutations in linkage groups XII and XVII.</strong>
|
|
J. Hered. 58: 17-20, 1967.
|
|
|
|
|
|
[PubMed: 6031677]
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|
|
[Full Text: https://doi.org/10.1093/oxfordjournals.jhered.a107529]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Martina, J. A., Moriyama, K., Bonifacino, J. S.
|
|
<strong>BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.</strong>
|
|
J. Biol. Chem. 278: 29376-29384, 2003.
|
|
|
|
|
|
[PubMed: 12756248]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.M301294200]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Suzuki, T., Li, W., Zhang, Q., Karim, A., Novak, E. K., Sviderskaya, E. V., Hill, S. P., Bennett, D. C., Levin, A. V., Nieuwenhuis, H. K., Fong, C.-T., Castellan, C., Miterski, B., Swank, R. T., Spritz, R. A.
|
|
<strong>Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.</strong>
|
|
Nature Genet. 30: 321-324, 2002.
|
|
|
|
|
|
[PubMed: 11836498]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng835]
|
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|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<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:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 07/27/2017<br>Matthew B. Gross - updated : 11/26/2014<br>Marla J. F. O'Neill - updated : 6/30/2004<br>Patricia A. Hartz - updated : 10/10/2003<br>Victor A. McKusick - updated : 6/10/2003
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</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 class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 2/11/2002
|
|
</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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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Edit History:
|
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</span>
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