3452 lines
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Entry
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- *612878 - EXOPHILIN 5; EXPH5
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- OMIM
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<p>
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<span class="h4">*612878</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/612878">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>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<h4 class="panel-title">
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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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<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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</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=ENSG00000110723;t=ENST00000265843" 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=23086" 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=612878" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000110723;t=ENST00000265843" 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_001144763,NM_001144764,NM_001144765,NM_001308019,NM_015065,XM_011542696,XM_011542698,XM_011542700,XM_017017397,XM_017017398,XM_017017400,XM_017017403,XM_047426624,XM_047426626,XM_047426627,XM_047426628,XM_047426629" 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_015065" 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=612878" 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 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=08341&isoform_id=08341_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/EXPH5" 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/21320163,50949772,86577816,109730267,119587525,194384274,194385416,221316747,221316751,221316754,440575831,767969824,767969828,767969834,808688319,920501764,929654056,1034572579,1034572587,2203400811,2217281836,2217281838,2217281840,2217281843,2217281845,2217281850,2217281853,2462523862,2462523864,2462523866,2462523868,2462523870,2462523872,2462523874,2462523876,2462523878,2462523880,2462523882,2462523884,2462523886" 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/Q8NEV8" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=23086" 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=ENSG00000110723;t=ENST00000265843" 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=EXPH5" 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=EXPH5" 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+23086" 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/EXPH5" 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:23086" 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/23086" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr11&hgg_gene=ENST00000265843.9&hgg_start=108505435&hgg_end=108607536&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30578" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612878[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=612878[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/ENSG00000110723" 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=EXPH5" 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=EXPH5" 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=EXPH5" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=EXPH5&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/PA142671900" 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:30578" 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://www.mousephenotype.org/data/genes/MGI:2443248" 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/EXPH5#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:2443248" 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/23086/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=23086" 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>
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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=EXPH5&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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612878
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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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EXOPHILIN 5; EXPH5
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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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SYNAPTOTAGMIN-LIKE PROTEIN LACKING C2 DOMAINS B; SLAC2B<br />
|
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KIAA0624
|
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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=EXPH5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EXPH5</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
|
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<strong>
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<em>
|
|
Cytogenetic location: <a href="/geneMap/11/899?start=-3&limit=10&highlight=899">11q22.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:108505435-108607536&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">11:108,505,435-108,607,536</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/11/899?start=-3&limit=10&highlight=899">
|
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11q22.3
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Epidermolysis bullosa simplex 4, localized or generalized intermediate, 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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|
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<a href="/entry/615028"> 615028 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/612878" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/612878" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>EXPH5 is a RAB27 (RAB27A; <a href="/entry/603868">603868</a>) effector implicated in intracellular vesicular trafficking and secretion. EXPH5 supports lysosome-mediated trafficking required for epidermal differentiation (<a href="#8" class="mim-tip-reference" title="Monteleon, C. L., Lee, I. Y., Ridky, T. W. <strong>Exophilin-5 supports lysosome-mediated trafficking required for epidermal differentiation.</strong> J. Invest. Derm. 139: 2219-2222, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31082377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31082377</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31082377[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.jid.2019.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31082377">Monteleon et al., 2019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31082377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from a size-fractionated brain cDNA library, <a href="#3" class="mim-tip-reference" title="Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 169-176, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9734811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9734811</a>] [<a href="https://doi.org/10.1093/dnares/5.3.169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9734811">Ishikawa et al. (1998)</a> cloned EXPH5, which they designated KIAA0624. The deduced protein contains 1,983 amino acids. RT-PCR detected highest EXPH5 expression in kidney, followed by lung, brain, liver, and ovary. Little to no expression was detected in skeletal muscle or spleen. <a href="#4" class="mim-tip-reference" title="Kuroda, T. S., Fukuda, M., Ariga, H., Mikoshiba, K. <strong>The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain.</strong> J. Biol. Chem. 277: 9212-9218, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11773082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11773082</a>] [<a href="https://doi.org/10.1074/jbc.M112414200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11773082">Kuroda et al. (2002)</a> showed that EXPH5, which they called SLAC2B, contains an N-terminal synaptotagmin (see SYT1, <a href="/entry/185605">185605</a>)-like homology domain (SHD). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9734811+11773082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By semiquantitative RT-PCR, <a href="#7" class="mim-tip-reference" title="McGrath, J. A., Stone, K. L., Begum, R., Simpson, M. A., Dopping-Hepenstal, P. J., Liu, L., McMillan, J. R., South, A. P., Pourreyron, C., McLean, W. H. I., Martinez, A. E., Mellerio, J. E., Parsons, M. <strong>Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility.</strong> Am. J. Hum. Genet. 91: 1115-1121, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23176819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23176819</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23176819[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23176819">McGrath et al. (2012)</a> demonstrated expression of EXPH5 in skin, muscle, heart, and brain. No amplification was achieved from kidney, liver, or lung. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23176819" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By radiation hybrid analysis, <a href="#3" class="mim-tip-reference" title="Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 169-176, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9734811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9734811</a>] [<a href="https://doi.org/10.1093/dnares/5.3.169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9734811">Ishikawa et al. (1998)</a> mapped the EXPH5 gene to chromosome 11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9734811" 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="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 9/28/2021."None>Gross (2021)</a> mapped the EXPH5 gene to chromosome 11q22.3 based on an alignment of the EXPH5 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC113119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC113119</a>) with the genomic sequence (GRCh38).</p>
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<p>Using a protein pull-down assay, <a href="#4" class="mim-tip-reference" title="Kuroda, T. S., Fukuda, M., Ariga, H., Mikoshiba, K. <strong>The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain.</strong> J. Biol. Chem. 277: 9212-9218, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11773082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11773082</a>] [<a href="https://doi.org/10.1074/jbc.M112414200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11773082">Kuroda et al. (2002)</a> found that the isolated N-terminal SHD of human SLAC2B and mouse Slp2a (SYTL2; <a href="/entry/612880">612880</a>) bound RAB27A, but no other small GTP-binding protein examined. Coimmunoprecipitation analysis confirmed that full-length SLAC2B and SLP2A interacted specifically with RAB27A following transfection of COS-7 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11773082" 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="#7" class="mim-tip-reference" title="McGrath, J. A., Stone, K. L., Begum, R., Simpson, M. A., Dopping-Hepenstal, P. J., Liu, L., McMillan, J. R., South, A. P., Pourreyron, C., McLean, W. H. I., Martinez, A. E., Mellerio, J. E., Parsons, M. <strong>Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility.</strong> Am. J. Hum. Genet. 91: 1115-1121, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23176819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23176819</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23176819[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23176819">McGrath et al. (2012)</a> examined the cytoskeletal architecture of keratinocytes from patients with a truncating mutation in the EXPH5 gene (<a href="#0001">612878.0001</a>) compared to SLAC2B-knockdown control keratinocytes, and observed disruption of the keratin filament network and more cortically distributed F-actin in both compared to wildtype. Keratinocyte adhesion assays demonstrated significantly reduced cell adhesion in both mutant and knockdown keratinocytes compared to controls. SLAC2B was also observed to colocalize with RAB27B (<a href="/entry/603869">603869</a>) and beta-4-integrin (<a href="/entry/147557">147557</a>) to early adhesion initiation sites in spreading normal keratinocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23176819" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using knockdown analysis, <a href="#8" class="mim-tip-reference" title="Monteleon, C. L., Lee, I. Y., Ridky, T. W. <strong>Exophilin-5 supports lysosome-mediated trafficking required for epidermal differentiation.</strong> J. Invest. Derm. 139: 2219-2222, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31082377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31082377</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31082377[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.jid.2019.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31082377">Monteleon et al. (2019)</a> showed that EXPH5 supported delivery of lysosome-related organelles (LROs) to the keratinocyte plasma membrane and was essential for differentiation of human keratinocytes. The differentiation defect in EXPH5-knockdown keratinocytes with lysosomal defects was rescued in trans by coculturing them with normal keratinocytes. The results demonstrated that keratinocyte differentiation is not a purely cell-autonomous process and that it is promoted by secreted LROs from adjacent differentiating keratinocytes through cell-cell communication mediated via lysosome-mediated exocytosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31082377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 affected sibs from a consanguineous Iraqi family segregating autosomal recessive inherited skin fragility (EBS4; <a href="/entry/615028">615028</a>) who were negative for mutation in the KRT5 (<a href="/entry/148040">148040</a>) and KRT14 (<a href="/entry/148066">148066</a>) genes, <a href="#7" class="mim-tip-reference" title="McGrath, J. A., Stone, K. L., Begum, R., Simpson, M. A., Dopping-Hepenstal, P. J., Liu, L., McMillan, J. R., South, A. P., Pourreyron, C., McLean, W. H. I., Martinez, A. E., Mellerio, J. E., Parsons, M. <strong>Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility.</strong> Am. J. Hum. Genet. 91: 1115-1121, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23176819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23176819</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23176819[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23176819">McGrath et al. (2012)</a> identified homozygosity for a 1-bp deletion (<a href="#0001">612878.0001</a>) in the EXPH5 gene. <a href="#7" class="mim-tip-reference" title="McGrath, J. A., Stone, K. L., Begum, R., Simpson, M. A., Dopping-Hepenstal, P. J., Liu, L., McMillan, J. R., South, A. P., Pourreyron, C., McLean, W. H. I., Martinez, A. E., Mellerio, J. E., Parsons, M. <strong>Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility.</strong> Am. J. Hum. Genet. 91: 1115-1121, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23176819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23176819</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23176819[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23176819">McGrath et al. (2012)</a> noted that the collective clinicopathologic features in these patients were not diagnostic for any particular subtype of epidermolysis bullosa (see, e.g., <a href="/entry/131760">131760</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23176819" 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="#9" class="mim-tip-reference" title="Pigors, M., Schwieger-Briel, A., Leppert, J., Kiritsi, D., Kohlhase, J., Bruckner-Tuderman, L., Has, C. <strong>Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.</strong> J. Invest. Derm. 134: 842-845, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24005056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24005056</a>] [<a href="https://doi.org/10.1038/jid.2013.373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24005056">Pigors et al. (2014)</a> sequenced the EXPH5 gene in a cohort of 35 patients with clinically suspected epidermolysis bullosa simplex (EBS) who were negative for mutation in the KRT5 and KRT14 genes, and identified a 2-year-old German girl who was compound heterozygous for 1-bp deletions in EXPH5 (<a href="#0002">612878.0002</a> and <a href="#0003">612878.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24005056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 4-year-old Caucasian boy with skin fragility, who was negative for mutation in known intraepidermal fragility-associated genes, <a href="#5" class="mim-tip-reference" title="Liu, L., Mellerio, J. E., Martinez, A. E., McMillan, J. R., Aristodemou, S., Parsons, M., McGrath, J. A. <strong>Mutations in EXPH5 result in autosomal recessive inherited skin fragility.</strong> Brit. J. Derm. 170: 196-199, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24443915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24443915</a>] [<a href="https://doi.org/10.1111/bjd.12723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24443915">Liu et al. (2014)</a> sequenced the EXPH5 gene and identified compound heterozygosity for a 1-bp duplication (<a href="#0004">612878.0004</a>) and a nonsense mutation (S750X; <a href="#0005">612878.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24443915" 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 9-year-old Pakistani boy with skin fragility from birth that improved with age, <a href="#10" class="mim-tip-reference" title="Rashidghamat, E., Ozoemena, L., Liu, L., McGrath, J. A., Martinez, A. E., Mellerio, J. E. <strong>Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex.</strong> Brit. J. Derm. 174: 452-453, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26211931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26211931</a>] [<a href="https://doi.org/10.1111/bjd.14047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26211931">Rashidghamat et al. (2016)</a> identified homozygosity for a nonsense mutation in the EXPH5 gene (L1217X; <a href="#0006">612878.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26211931" 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 3-year-old Israeli Arab Christian girl who was born with skin blistering and later had skin fragility and erosions, who was negative for mutation in the KRT5 and KRT14 genes, <a href="#6" class="mim-tip-reference" title="Malchin, N., Sarig, O., Grafi-Cohen, M., Geller, S., Goldberg, I., Shani, A., Gat, A., Sprecher, E., Mashiah, J. <strong>A novel homozygous deletion in EXPH5 causes a skin fragility phenotype.</strong> Clin. Exp. Derm. 41: 915-918, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27730671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27730671</a>] [<a href="https://doi.org/10.1111/ced.12908" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27730671">Malchin et al. (2016)</a> sequenced the EXPH5 gene and identified homozygosity for a 1-bp deletion (<a href="#0007">612878.0007</a>). Her unaffected first-cousin parents were heterozygous for the mutation, which was not found in population-matched controls or in public variant databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27730671" 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 teenaged Moroccan girl with skin fragility and blistering that ameliorated with age, <a href="#11" class="mim-tip-reference" title="Turcan, I., Pasmooij, A. M., Van den Akker, P. C., Lemmink, H., Sinke, R. J., Jonkman, M. F. <strong>Association of epidermolysis bullosa simplex with mottled pigmentation and EXPH5 mutations.</strong> JAMA Derm. 152: 1137-1141, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27384765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27384765</a>] [<a href="https://doi.org/10.1001/jamadermatol.2016.2268" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27384765">Turcan et al. (2016)</a> performed next-generation sequencing using a panel of 33 epidermolysis bullosa-associated genes and identified homozygosity for a nonsense mutation in the EXPH5 gene (S1306X; <a href="#0008">612878.0008</a>). Her unaffected first-cousin parents were heterozygous for the mutation, which was not found in public variant databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27384765" 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 3-year-old Italian girl with epidermolysis bullosa simplex, <a href="#1" class="mim-tip-reference" title="Diociaiuti, A., Pisaneschi, E., Rossi, S., Condorelli, A. G., Carnevale, C., Zambruno, G., El Hachem, M. <strong>Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review.</strong> J. Europ. Acad. Derm. Venereol. 34: e694-e697, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32176379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32176379</a>] [<a href="https://doi.org/10.1111/jdv.16372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32176379">Diociaiuti et al. (2020)</a> identified heterozygosity for a previously reported 1-bp deletion (<a href="#0001">612878.0001</a>) in exon 6 of the EXPH5 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32176379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=612878[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</strong>
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<p>In 3 affected sibs from a consanguineous Iraqi family with inherited skin fragility (EBS4; <a href="/entry/615028">615028</a>), <a href="#7" class="mim-tip-reference" title="McGrath, J. A., Stone, K. L., Begum, R., Simpson, M. A., Dopping-Hepenstal, P. J., Liu, L., McMillan, J. R., South, A. P., Pourreyron, C., McLean, W. H. I., Martinez, A. E., Mellerio, J. E., Parsons, M. <strong>Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility.</strong> Am. J. Hum. Genet. 91: 1115-1121, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23176819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23176819</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23176819[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23176819">McGrath et al. (2012)</a> identified homozygosity for a 1-bp deletion (c.5786delC, NM_015065.2) in exon 6 of the EXPH5 gene, causing a frameshift predicted to result in a premature termination codon truncating the protein by 52 residues (Pro1929LeufsTer8). The mutation segregated with disease in the family and was not found in 200 control chromosomes from mixed Iraqi, Iranian, Kuwaiti, and Omani populations. Patient keratinocytes showed disruption of the keratin filament network and more cortically distributed F-actin as well as significantly reduced cell adhesion compared to wildtype keratinocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23176819" 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 3-year-old Italian girl with epidermolysis bullosa simplex, <a href="#1" class="mim-tip-reference" title="Diociaiuti, A., Pisaneschi, E., Rossi, S., Condorelli, A. G., Carnevale, C., Zambruno, G., El Hachem, M. <strong>Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review.</strong> J. Europ. Acad. Derm. Venereol. 34: e694-e697, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32176379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32176379</a>] [<a href="https://doi.org/10.1111/jdv.16372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32176379">Diociaiuti et al. (2020)</a> identified homozygosity for the c.5786delC mutation in the EXPH5 gene. Her unaffected consanguineous parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32176379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 2-year-old German girl with epidermolysis bullosa simplex (EBS4; <a href="/entry/615028">615028</a>), <a href="#9" class="mim-tip-reference" title="Pigors, M., Schwieger-Briel, A., Leppert, J., Kiritsi, D., Kohlhase, J., Bruckner-Tuderman, L., Has, C. <strong>Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.</strong> J. Invest. Derm. 134: 842-845, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24005056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24005056</a>] [<a href="https://doi.org/10.1038/jid.2013.373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24005056">Pigors et al. (2014)</a> identified compound heterozygosity for 1-bp deletions in exon 6 of the EXPH5 gene, both causing frameshifts predicted to result in premature termination codons: the first was c.1395delC (c.1395delC, NM_015065.2), resulting in Phe466LeufsTer44, and the second was c.2897delC (<a href="#0003">612878.0003</a>), resulting in Pro966LeufsTer11. Her unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in 100 German controls. No biopsy material was available for functional analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24005056" 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 EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</strong>
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<p>For discussion of the 1-bp deletion (c.2897delC, NM_015065.2) in exon 6 of the EXPH5 gene, causing a frameshift predicted to result in a premature termination codon (Pro966LeufsTer11), that was found in compound heterozygous state in a 2-year-old German girl with epidermolysis bullosa simplex (EBS4; <a href="/entry/615028">615028</a>) by <a href="#9" class="mim-tip-reference" title="Pigors, M., Schwieger-Briel, A., Leppert, J., Kiritsi, D., Kohlhase, J., Bruckner-Tuderman, L., Has, C. <strong>Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.</strong> J. Invest. Derm. 134: 842-845, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24005056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24005056</a>] [<a href="https://doi.org/10.1038/jid.2013.373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24005056">Pigors et al. (2014)</a>, see <a href="#0002">612878.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24005056" 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">rs2135924347 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2135924347;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=rs2135924347" 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=rs2135924347" 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=RCV001765144" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001765144" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001765144</a>
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<p>In a 4-year-old Caucasian boy with epidermolysis bullosa simplex (EBS4; <a href="/entry/615028">615028</a>), <a href="#5" class="mim-tip-reference" title="Liu, L., Mellerio, J. E., Martinez, A. E., McMillan, J. R., Aristodemou, S., Parsons, M., McGrath, J. A. <strong>Mutations in EXPH5 result in autosomal recessive inherited skin fragility.</strong> Brit. J. Derm. 170: 196-199, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24443915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24443915</a>] [<a href="https://doi.org/10.1111/bjd.12723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24443915">Liu et al. (2014)</a> identified compound heterozygosity for a 1-bp duplication (c.1947dupC, NM_015065.2), causing a frameshift predicted to result in a premature termination codon (Pro649ProfsTer11), and a c.2249C-A transversion, resulting in a ser750-to-ter (S750X; <a href="#0005">612878.0005</a>) substitution. His unaffected parents were each heterozygous for 1 of the mutations. Immunostaining of patient skin revealed a complete absence of exophilin-5 within the epidermis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24443915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</strong>
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EXPH5, SER750TER
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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> rs763930645 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs763930645;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/rs763930645?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=rs763930645" 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=rs763930645" 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=RCV001765145" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001765145" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001765145</a>
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<p>For discussion of the c.2249C-A transversion (c.2249C-A, NM_015065.2) in the EXPH5 gene, resulting in a ser750-to-ter (S750X) substitution, that was found in compound heterozygous state in a 4-year-old Caucasian boy with epidermolysis bullosa simplex (EBS4; <a href="/entry/615028">615028</a>) by <a href="#5" class="mim-tip-reference" title="Liu, L., Mellerio, J. E., Martinez, A. E., McMillan, J. R., Aristodemou, S., Parsons, M., McGrath, J. A. <strong>Mutations in EXPH5 result in autosomal recessive inherited skin fragility.</strong> Brit. J. Derm. 170: 196-199, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24443915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24443915</a>] [<a href="https://doi.org/10.1111/bjd.12723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24443915">Liu et al. (2014)</a>, see <a href="#0004">612878.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24443915" 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 EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</strong>
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EXPH5, LEU1217TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2135912697 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2135912697;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=rs2135912697" 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=rs2135912697" 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=RCV001765146" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001765146" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001765146</a>
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<p>In a 9-year-old Pakistani boy with skin fragility at birth that improved with age (EBS4; <a href="/entry/615028">615028</a>), <a href="#10" class="mim-tip-reference" title="Rashidghamat, E., Ozoemena, L., Liu, L., McGrath, J. A., Martinez, A. E., Mellerio, J. E. <strong>Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex.</strong> Brit. J. Derm. 174: 452-453, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26211931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26211931</a>] [<a href="https://doi.org/10.1111/bjd.14047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26211931">Rashidghamat et al. (2016)</a> identified homozygosity for a c.3650T-A transversion in exon 6 of the EXPH5 gene, resulting in a leu1217-to-ter (L1217X) substitution. His unaffected mother was heterozygous for the mutation; DNA was unavailable from his affected father who, like the proband, was born of first-cousin parents, or from the proband's affected younger brother. Exophilin-5 immunostaining was barely detectable in a shave biopsy of patient skin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26211931" 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 EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</strong>
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EXPH5, 1-BP DEL, 2542C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2135920313 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2135920313;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=rs2135920313" 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=rs2135920313" 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=RCV001765147" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001765147" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001765147</a>
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<p>In a 3-year-old Israeli Arab Christian girl who was born with skin blistering and later had skin fragility and erosions (EBS4; <a href="/entry/615028">615028</a>), <a href="#6" class="mim-tip-reference" title="Malchin, N., Sarig, O., Grafi-Cohen, M., Geller, S., Goldberg, I., Shani, A., Gat, A., Sprecher, E., Mashiah, J. <strong>A novel homozygous deletion in EXPH5 causes a skin fragility phenotype.</strong> Clin. Exp. Derm. 41: 915-918, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27730671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27730671</a>] [<a href="https://doi.org/10.1111/ced.12908" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27730671">Malchin et al. (2016)</a> identified homozygosity for a 1-bp deletion (c.2542delC), causing a frameshift predicted to result in a premature termination codon (His848TrpfsTer5). Her unaffected first-cousin parents were heterozygous for the mutation, which was not found in 230 population-matched controls or in the ESP, NCBI, or 1000 Genomes Project databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27730671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</strong>
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EXPH5, SER1306TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1228319313 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1228319313;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=rs1228319313" 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=rs1228319313" 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=RCV001765148" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001765148" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001765148</a>
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<p>In a teenaged Moroccan girl with autosomal recessive epidermolysis bullosa simplex (EBS4; <a href="/entry/615028">615028</a>), <a href="#11" class="mim-tip-reference" title="Turcan, I., Pasmooij, A. M., Van den Akker, P. C., Lemmink, H., Sinke, R. J., Jonkman, M. F. <strong>Association of epidermolysis bullosa simplex with mottled pigmentation and EXPH5 mutations.</strong> JAMA Derm. 152: 1137-1141, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27384765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27384765</a>] [<a href="https://doi.org/10.1001/jamadermatol.2016.2268" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27384765">Turcan et al. (2016)</a> identified homozygosity for a c.3917C-G transversion (c.3917C-G, NM_015065.2) in exon 6 of the EXPH5 gene, resulting in a ser1306-to-ter (S1306X) substitution. Her unaffected first-cousin parents were heterozygous for the mutation, which was not found in the Genome of the Netherlands, 1000 Genomes Project, or ExAC databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27384765" 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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Diociaiuti, A., Pisaneschi, E., Rossi, S., Condorelli, A. G., Carnevale, C., Zambruno, G., El Hachem, M.
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<strong>Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review.</strong>
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J. Europ. Acad. Derm. Venereol. 34: e694-e697, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32176379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32176379</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32176379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/jdv.16372" target="_blank">Full Text</a>]
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Gross, M. B.
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<strong>Personal Communication.</strong>
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|
Baltimore, Md. 9/28/2021.
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</p>
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</div>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Ishikawa1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 5: 169-176, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9734811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9734811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9734811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/5.3.169" 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="4" class="mim-anchor"></a>
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<a id="Kuroda2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Kuroda, T. S., Fukuda, M., Ariga, H., Mikoshiba, K.
|
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<strong>The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain.</strong>
|
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J. Biol. Chem. 277: 9212-9218, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11773082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11773082</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11773082" 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.M112414200" 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="Liu2014" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Liu, L., Mellerio, J. E., Martinez, A. E., McMillan, J. R., Aristodemou, S., Parsons, M., McGrath, J. A.
|
|
<strong>Mutations in EXPH5 result in autosomal recessive inherited skin fragility.</strong>
|
|
Brit. J. Derm. 170: 196-199, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24443915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24443915</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24443915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/bjd.12723" 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="Malchin2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Malchin, N., Sarig, O., Grafi-Cohen, M., Geller, S., Goldberg, I., Shani, A., Gat, A., Sprecher, E., Mashiah, J.
|
|
<strong>A novel homozygous deletion in EXPH5 causes a skin fragility phenotype.</strong>
|
|
Clin. Exp. Derm. 41: 915-918, 2016.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27730671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27730671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27730671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/ced.12908" 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="7" class="mim-anchor"></a>
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<a id="McGrath2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McGrath, J. A., Stone, K. L., Begum, R., Simpson, M. A., Dopping-Hepenstal, P. J., Liu, L., McMillan, J. R., South, A. P., Pourreyron, C., McLean, W. H. I., Martinez, A. E., Mellerio, J. E., Parsons, M.
|
|
<strong>Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility.</strong>
|
|
Am. J. Hum. Genet. 91: 1115-1121, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23176819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23176819</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23176819[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23176819" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2012.10.012" 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="8" class="mim-anchor"></a>
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<a id="Monteleon2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Monteleon, C. L., Lee, I. Y., Ridky, T. W.
|
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<strong>Exophilin-5 supports lysosome-mediated trafficking required for epidermal differentiation.</strong>
|
|
J. Invest. Derm. 139: 2219-2222, 2019.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31082377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31082377</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31082377[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31082377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.jid.2019.04.014" 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="9" class="mim-anchor"></a>
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<a id="Pigors2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pigors, M., Schwieger-Briel, A., Leppert, J., Kiritsi, D., Kohlhase, J., Bruckner-Tuderman, L., Has, C.
|
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<strong>Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.</strong>
|
|
J. Invest. Derm. 134: 842-845, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24005056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24005056</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24005056" 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/jid.2013.373" 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="10" class="mim-anchor"></a>
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<a id="Rashidghamat2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rashidghamat, E., Ozoemena, L., Liu, L., McGrath, J. A., Martinez, A. E., Mellerio, J. E.
|
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<strong>Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex.</strong>
|
|
Brit. J. Derm. 174: 452-453, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26211931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26211931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26211931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/bjd.14047" 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="11" class="mim-anchor"></a>
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<a id="Turcan2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Turcan, I., Pasmooij, A. M., Van den Akker, P. C., Lemmink, H., Sinke, R. J., Jonkman, M. F.
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<strong>Association of epidermolysis bullosa simplex with mottled pigmentation and EXPH5 mutations.</strong>
|
|
JAMA Derm. 152: 1137-1141, 2016.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27384765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27384765</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27384765" 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/10.1001/jamadermatol.2016.2268" 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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<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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</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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Marla J. F. O'Neill - updated : 10/29/2021
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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 : 09/28/2021<br>Bao Lige - updated : 09/28/2021<br>Marla J. F. O'Neill - updated : 01/22/2013
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</span>
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</div>
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</div>
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</div>
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<div>
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<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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Patricia A. Hartz : 6/26/2009
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" 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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<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 : 10/29/2021
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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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mgross : 09/28/2021<br>mgross : 09/28/2021<br>carol : 06/29/2018<br>terry : 01/22/2013<br>alopez : 1/22/2013<br>wwang : 7/30/2010<br>alopez : 6/29/2009<br>alopez : 6/26/2009
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 612878
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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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EXOPHILIN 5; EXPH5
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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SYNAPTOTAGMIN-LIKE PROTEIN LACKING C2 DOMAINS B; SLAC2B<br />
|
|
KIAA0624
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: EXPH5</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong>
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<em>
|
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Cytogenetic location: 11q22.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 11:108,505,435-108,607,536 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</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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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
11q22.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
615028
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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|
</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</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>EXPH5 is a RAB27 (RAB27A; 603868) effector implicated in intracellular vesicular trafficking and secretion. EXPH5 supports lysosome-mediated trafficking required for epidermal differentiation (Monteleon et al., 2019). </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>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated brain cDNA library, Ishikawa et al. (1998) cloned EXPH5, which they designated KIAA0624. The deduced protein contains 1,983 amino acids. RT-PCR detected highest EXPH5 expression in kidney, followed by lung, brain, liver, and ovary. Little to no expression was detected in skeletal muscle or spleen. Kuroda et al. (2002) showed that EXPH5, which they called SLAC2B, contains an N-terminal synaptotagmin (see SYT1, 185605)-like homology domain (SHD). </p><p>By semiquantitative RT-PCR, McGrath et al. (2012) demonstrated expression of EXPH5 in skin, muscle, heart, and brain. No amplification was achieved from kidney, liver, or lung. </p>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, Ishikawa et al. (1998) mapped the EXPH5 gene to chromosome 11. </p><p>Gross (2021) mapped the EXPH5 gene to chromosome 11q22.3 based on an alignment of the EXPH5 sequence (GenBank BC113119) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using a protein pull-down assay, Kuroda et al. (2002) found that the isolated N-terminal SHD of human SLAC2B and mouse Slp2a (SYTL2; 612880) bound RAB27A, but no other small GTP-binding protein examined. Coimmunoprecipitation analysis confirmed that full-length SLAC2B and SLP2A interacted specifically with RAB27A following transfection of COS-7 cells. </p><p>McGrath et al. (2012) examined the cytoskeletal architecture of keratinocytes from patients with a truncating mutation in the EXPH5 gene (612878.0001) compared to SLAC2B-knockdown control keratinocytes, and observed disruption of the keratin filament network and more cortically distributed F-actin in both compared to wildtype. Keratinocyte adhesion assays demonstrated significantly reduced cell adhesion in both mutant and knockdown keratinocytes compared to controls. SLAC2B was also observed to colocalize with RAB27B (603869) and beta-4-integrin (147557) to early adhesion initiation sites in spreading normal keratinocytes. </p><p>Using knockdown analysis, Monteleon et al. (2019) showed that EXPH5 supported delivery of lysosome-related organelles (LROs) to the keratinocyte plasma membrane and was essential for differentiation of human keratinocytes. The differentiation defect in EXPH5-knockdown keratinocytes with lysosomal defects was rescued in trans by coculturing them with normal keratinocytes. The results demonstrated that keratinocyte differentiation is not a purely cell-autonomous process and that it is promoted by secreted LROs from adjacent differentiating keratinocytes through cell-cell communication mediated via lysosome-mediated exocytosis. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 3 affected sibs from a consanguineous Iraqi family segregating autosomal recessive inherited skin fragility (EBS4; 615028) who were negative for mutation in the KRT5 (148040) and KRT14 (148066) genes, McGrath et al. (2012) identified homozygosity for a 1-bp deletion (612878.0001) in the EXPH5 gene. McGrath et al. (2012) noted that the collective clinicopathologic features in these patients were not diagnostic for any particular subtype of epidermolysis bullosa (see, e.g., 131760). </p><p>Pigors et al. (2014) sequenced the EXPH5 gene in a cohort of 35 patients with clinically suspected epidermolysis bullosa simplex (EBS) who were negative for mutation in the KRT5 and KRT14 genes, and identified a 2-year-old German girl who was compound heterozygous for 1-bp deletions in EXPH5 (612878.0002 and 612878.0003). </p><p>In a 4-year-old Caucasian boy with skin fragility, who was negative for mutation in known intraepidermal fragility-associated genes, Liu et al. (2014) sequenced the EXPH5 gene and identified compound heterozygosity for a 1-bp duplication (612878.0004) and a nonsense mutation (S750X; 612878.0005). </p><p>In a 9-year-old Pakistani boy with skin fragility from birth that improved with age, Rashidghamat et al. (2016) identified homozygosity for a nonsense mutation in the EXPH5 gene (L1217X; 612878.0006). </p><p>In a 3-year-old Israeli Arab Christian girl who was born with skin blistering and later had skin fragility and erosions, who was negative for mutation in the KRT5 and KRT14 genes, Malchin et al. (2016) sequenced the EXPH5 gene and identified homozygosity for a 1-bp deletion (612878.0007). Her unaffected first-cousin parents were heterozygous for the mutation, which was not found in population-matched controls or in public variant databases. </p><p>In a teenaged Moroccan girl with skin fragility and blistering that ameliorated with age, Turcan et al. (2016) performed next-generation sequencing using a panel of 33 epidermolysis bullosa-associated genes and identified homozygosity for a nonsense mutation in the EXPH5 gene (S1306X; 612878.0008). Her unaffected first-cousin parents were heterozygous for the mutation, which was not found in public variant databases. </p><p>In a 3-year-old Italian girl with epidermolysis bullosa simplex, Diociaiuti et al. (2020) identified heterozygosity for a previously reported 1-bp deletion (612878.0001) in exon 6 of the EXPH5 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>8 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</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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EXPH5, 1-BP DEL, 5786C ({dbSNP rs749309384})
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<br />
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SNP: rs749309384,
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gnomAD: rs749309384,
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ClinVar: RCV000255148, RCV001787092
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 affected sibs from a consanguineous Iraqi family with inherited skin fragility (EBS4; 615028), McGrath et al. (2012) identified homozygosity for a 1-bp deletion (c.5786delC, NM_015065.2) in exon 6 of the EXPH5 gene, causing a frameshift predicted to result in a premature termination codon truncating the protein by 52 residues (Pro1929LeufsTer8). The mutation segregated with disease in the family and was not found in 200 control chromosomes from mixed Iraqi, Iranian, Kuwaiti, and Omani populations. Patient keratinocytes showed disruption of the keratin filament network and more cortically distributed F-actin as well as significantly reduced cell adhesion compared to wildtype keratinocytes. </p><p>In a 3-year-old Italian girl with epidermolysis bullosa simplex, Diociaiuti et al. (2020) identified homozygosity for the c.5786delC mutation in the EXPH5 gene. Her unaffected consanguineous parents were heterozygous for the mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</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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EXPH5, 1-BP DEL, 1395C
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<br />
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SNP: rs2135927905,
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ClinVar: RCV001765142
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 2-year-old German girl with epidermolysis bullosa simplex (EBS4; 615028), Pigors et al. (2014) identified compound heterozygosity for 1-bp deletions in exon 6 of the EXPH5 gene, both causing frameshifts predicted to result in premature termination codons: the first was c.1395delC (c.1395delC, NM_015065.2), resulting in Phe466LeufsTer44, and the second was c.2897delC (612878.0003), resulting in Pro966LeufsTer11. Her unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in 100 German controls. No biopsy material was available for functional analysis. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</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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EXPH5, 1-BP DEL, 2897C
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<br />
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SNP: rs1305450457,
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gnomAD: rs1305450457,
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ClinVar: RCV001765143
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the 1-bp deletion (c.2897delC, NM_015065.2) in exon 6 of the EXPH5 gene, causing a frameshift predicted to result in a premature termination codon (Pro966LeufsTer11), that was found in compound heterozygous state in a 2-year-old German girl with epidermolysis bullosa simplex (EBS4; 615028) by Pigors et al. (2014), see 612878.0002. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>.0004 EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</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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EXPH5, 1-BP DUP, 1947C
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<br />
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SNP: rs2135924347,
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ClinVar: RCV001765144
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a 4-year-old Caucasian boy with epidermolysis bullosa simplex (EBS4; 615028), Liu et al. (2014) identified compound heterozygosity for a 1-bp duplication (c.1947dupC, NM_015065.2), causing a frameshift predicted to result in a premature termination codon (Pro649ProfsTer11), and a c.2249C-A transversion, resulting in a ser750-to-ter (S750X; 612878.0005) substitution. His unaffected parents were each heterozygous for 1 of the mutations. Immunostaining of patient skin revealed a complete absence of exophilin-5 within the epidermis. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0005 EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</strong>
|
|
</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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|
EXPH5, SER750TER
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<br />
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SNP: rs763930645,
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gnomAD: rs763930645,
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ClinVar: RCV001765145
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the c.2249C-A transversion (c.2249C-A, NM_015065.2) in the EXPH5 gene, resulting in a ser750-to-ter (S750X) substitution, that was found in compound heterozygous state in a 4-year-old Caucasian boy with epidermolysis bullosa simplex (EBS4; 615028) by Liu et al. (2014), see 612878.0004. </p>
|
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</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0006 EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</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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EXPH5, LEU1217TER
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<br />
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SNP: rs2135912697,
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ClinVar: RCV001765146
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a 9-year-old Pakistani boy with skin fragility at birth that improved with age (EBS4; 615028), Rashidghamat et al. (2016) identified homozygosity for a c.3650T-A transversion in exon 6 of the EXPH5 gene, resulting in a leu1217-to-ter (L1217X) substitution. His unaffected mother was heterozygous for the mutation; DNA was unavailable from his affected father who, like the proband, was born of first-cousin parents, or from the proband's affected younger brother. Exophilin-5 immunostaining was barely detectable in a shave biopsy of patient skin. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0007 EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</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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EXPH5, 1-BP DEL, 2542C
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<br />
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SNP: rs2135920313,
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ClinVar: RCV001765147
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a 3-year-old Israeli Arab Christian girl who was born with skin blistering and later had skin fragility and erosions (EBS4; 615028), Malchin et al. (2016) identified homozygosity for a 1-bp deletion (c.2542delC), causing a frameshift predicted to result in a premature termination codon (His848TrpfsTer5). Her unaffected first-cousin parents were heterozygous for the mutation, which was not found in 230 population-matched controls or in the ESP, NCBI, or 1000 Genomes Project databases. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0008 EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE</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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EXPH5, SER1306TER
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<br />
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SNP: rs1228319313,
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ClinVar: RCV001765148
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a teenaged Moroccan girl with autosomal recessive epidermolysis bullosa simplex (EBS4; 615028), Turcan et al. (2016) identified homozygosity for a c.3917C-G transversion (c.3917C-G, NM_015065.2) in exon 6 of the EXPH5 gene, resulting in a ser1306-to-ter (S1306X) substitution. Her unaffected first-cousin parents were heterozygous for the mutation, which was not found in the Genome of the Netherlands, 1000 Genomes Project, or ExAC databases. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Diociaiuti, A., Pisaneschi, E., Rossi, S., Condorelli, A. G., Carnevale, C., Zambruno, G., El Hachem, M.
|
|
<strong>Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review.</strong>
|
|
J. Europ. Acad. Derm. Venereol. 34: e694-e697, 2020.
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[PubMed: 32176379]
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[Full Text: https://doi.org/10.1111/jdv.16372]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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