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Entry
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- *613230 - PEPTIDASE D; PEPD
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- OMIM
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<p>
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<span class="h4">*613230</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613230">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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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 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=ENSG00000124299;t=ENST00000244137" 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=5184" 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=613230" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000124299;t=ENST00000244137" 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_000285,NM_001166056,NM_001166057" 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_000285" 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=613230" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01358&isoform_id=01358_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/PEPD" 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/189842,13279182,15929143,20271451,30582223,49456299,50403718,149589008,158254948,158254998,158256554,194375466,194378104,260593663,260593665,332367716" 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/P12955" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=5184" 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=ENSG00000124299;t=ENST00000244137" 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=PEPD" 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=PEPD" 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+5184" 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/PEPD" 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:5184" 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/5184" 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=chr19&hgg_gene=ENST00000244137.12&hgg_start=33386950&hgg_end=33521791&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8840" 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://medlineplus.gov/genetics/gene/pepd" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613230[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=613230[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/PEPD/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000124299" 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=PEPD" 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=PEPD" 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=PEPD" 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=PEPD&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/PA33181" 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:8840" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0000455.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:97542" 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/PEPD#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:97542" 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/5184/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=5184" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00019673;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-9444" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=PEPD&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 360994007, 410055005<br />
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">ICD+</a>
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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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613230
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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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PEPTIDASE D; PEPD
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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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PROLIDASE<br />
|
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IMIDODIPEPTIDASE
|
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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=PEPD" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PEPD</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/19/555?start=-3&limit=10&highlight=555">19q13.11</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:33386950-33521791&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'})">19:33,386,950-33,521,791</a> </span>
|
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
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|
Phenotype
|
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
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|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/19/555?start=-3&limit=10&highlight=555">
|
|
19q13.11
|
|
</a>
|
|
</span>
|
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</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Prolidase deficiency
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/170100"> 170100 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/613230" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613230" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
|
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<h4>
|
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|
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<span class="mim-font">
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<p>Peptidase D (<a href="https://enzyme.expasy.org/EC/3.4.13.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.4.13.9</a>), also known as prolidase, imidodipeptidase, proline dipeptidase, and aminoacyl-L-proline hydrolase, specifically splits iminodipeptides with C-terminal proline or hydroxyproline. The enzyme prolinase (<a href="https://enzyme.expasy.org/EC/3.4.13.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.4.13.8</a>) splits iminodipeptides with N-terminal proline or hydroxyproline. The 2 dipeptidases play an important role in collagen metabolism because of the high level of iminoacids in collagen (proline and hydroxyproline constitute 25%) (<a href="#23" class="mim-tip-reference" title="Royce, P. M., Steinmann, B. <strong>Prolidase deficiency.In: Royce, P. M.; Steinmann, B. (eds.) : Connective Tissue and its Heritable Disorders.</strong> New York: Wiley-Liss 2002. Pp. 727-738."None>Royce and Steinmann, 2002</a>) and seem to be important for protein catabolism in general (<a href="#18" class="mim-tip-reference" title="Lupi, A., Tenni, R., Rossi, A., Cetta, G., Forlino, A. <strong>Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations.</strong> Amino Acids 35: 739-752, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18340504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18340504</a>] [<a href="https://doi.org/10.1007/s00726-008-0055-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18340504">Lupi et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18340504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Endo, F., Tanoue, A., Nakai, H., Hata, A., Indo, Y., Titani, K., Matsuda, I. <strong>Primary structure and gene localization of human prolidase.</strong> J. Biol. Chem. 264: 4476-4481, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2925654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2925654</a>]" pmid="2925654">Endo et al. (1989)</a> isolated prolidase cDNA clones from human liver and placenta cDNA libraries. The deduced mature enzyme contains 492 amino acids with a calculated molecular mass of 54.3 kD. Northern blot analysis detected a single mRNA of approximately 2.1 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2925654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#27" class="mim-tip-reference" title="Tanoue, A., Endo, F., Kitano, A., Matsuda, I. <strong>A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency: expression of the mutant enzyme in NIH 3T3 cells.</strong> J. Clin. Invest. 86: 351-355, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365824</a>] [<a href="https://doi.org/10.1172/JCI114708" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2365824">Tanoue et al. (1990)</a> demonstrated that the prolidase gene contains 15 exons and spans more than 130 kb. All of the splice donor and acceptor sites conform to the GT/AG rule. By nuclease S1 mapping and primer extension, they determined that the transcription initiation site is located 131 bases upstream from the initiation codon. A 'CAAT' box-like sequence was found 67 bases from the cap site, but there was no 'TATA' box-like sequence. There were 7 sets of sequences resembling the transcription factor Sp1 binding sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2365824" 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>Peptidase D was assigned to chromosome 19 by <a href="#20" class="mim-tip-reference" title="McAlpine, P. J., Mohandas, T., Ray, M., Wang, H., Hamerton, J. L. <strong>Assignment of the peptidase D gene locus (PEPD) to chromosome 19 in man.</strong> Cytogenet. Cell Genet. 16: 204-205, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/975880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">975880</a>] [<a href="https://doi.org/10.1159/000130591" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="975880">McAlpine et al. (1976)</a> and by <a href="#3" class="mim-tip-reference" title="Brown, S., Lalley, P. A., Minna, J. D. <strong>Assignment of the gene for peptidase S (PEPS) to chromosome 4 in man and confirmation of peptidase D (PEPD) assignment.</strong> Cytogenet. Cell Genet. 22: 167-171, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/318156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">318156</a>] [<a href="https://doi.org/10.1159/000130928" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="318156">Brown et al. (1978)</a>. <a href="#6" class="mim-tip-reference" title="Eiberg, H., Mohr, J., Nielsen, L. S. <strong>Indication of linkage between the PEPD locus and the C3-LE-DM-SE-LU linkage group (and support for assignment of this linkage group to chromosome no. 19). (Abstract)</strong> Clin. Genet. 23: 228 only, 1983."None>Eiberg et al. (1983)</a> showed that PEPD is probably linked to the C3-LE-DM-SE-LU linkage group, thus corroborating the assignment of this large group to chromosome 19. They found a lod score (male and female) for PEPD-Se of 2.14 at theta 0.05; a previous score of 0.94 at theta 0.20 was reported in other families. PEPD-C3 (male) gave positive scores. GPI and PEPD, which are on chromosome 19 in man, are on chromosome 9 of the Chinese hamster, and TPI, which is on chromosome 12 of man, is on Chinese hamster chromosome 8 (<a href="#25" class="mim-tip-reference" title="Siciliano, M. J., Stallings, R. L., Adair, G. M., Humphrey, R. M., Siciliano, J. <strong>Provisional assignment of TPI, GPI, and PEPD to Chinese hamster autosomes 8 and 9: a cytogenetic basis for functional haploidy of an autosomal linkage group in CHO cells.</strong> Cytogenet. Cell Genet. 35: 15-20, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6825466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6825466</a>] [<a href="https://doi.org/10.1159/000131830" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6825466">Siciliano et al., 1983</a>). Linkage of peptidase D to myotonic dystrophy (<a href="#21" class="mim-tip-reference" title="O'Brien, D. T., Ball, S., Sarfarazi, M., Harper, P. S., Robson, E. B. <strong>Genetic linkage between the loci for myotonic dystrophy and peptidase D.</strong> Ann. Hum. Genet. 47: 117-122, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6881909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6881909</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1983.tb00978.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6881909">O'Brien et al., 1983</a>) proves the assignment of the Lutheran-secretor linkage group to chromosome 19 and provides regional assignment to 19pter-q13. <a href="#2" class="mim-tip-reference" title="Brook, J. D., Shaw, D. J., Meredith, A. L., Worwood, M., Cowell, J., Scott, J., Knott, T. J., Litt, M., Bufton, L., Harper, P. S. <strong>A somatic cell hybrid panel for chromosome 19: localization of known genes and RFLPs and orientation of the linkage group. (Abstract)</strong> Cytogenet. Cell Genet. 40: 590-591, 1985."None>Brook et al. (1985)</a> gave a regionalization of 19p13.2-q13.2. <a href="#1" class="mim-tip-reference" title="Ball, S. P., Donald, J. A., Corney, G., Humphries, S. E. <strong>Linkage between the loci for peptidase D and apolipoprotein CII on chromosome 19.</strong> Ann. Hum. Genet. 49: 129-134, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3000274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3000274</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1985.tb01684.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3000274">Ball et al. (1985)</a> found close linkage between PEPD and APOC2 (<a href="/entry/608083">608083</a>). <a href="#19" class="mim-tip-reference" title="Lusis, A. J., Heinzmann, C., Sparkes, R. S., Scott, J., Knott, T. J., Geller, R., Sparkes, M. C., Mohandas, T. <strong>Regional mapping of human chromosome 19: organization of genes for plasma lipid transport (APOC1, -C2, and -E and LDLR) and the genes C3, PEPD, and GPI.</strong> Proc. Nat. Acad. Sci. 83: 3929-3933, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3459164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3459164</a>] [<a href="https://doi.org/10.1073/pnas.83.11.3929" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3459164">Lusis et al. (1986)</a> used a reciprocal whole arm translocation between the long arm of chromosome 19 and the short arm of chromosome 1 to determine that the APOC1, APOC2, APOE and GPI loci are on the long arm and the LDLR, C3 and PEPD loci on the short arm. They isolated a single lambda phage carrying APOC1 and part of APOE. These genes are 6 kb apart and arranged tandemly. APOC2 and APOE were previously shown to be tightly linked. <a href="#11" class="mim-tip-reference" title="Friedrich, U., Brunner, H., Smeets, D., Lambermon, E., Ropers, H.-H. <strong>Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q.</strong> Hum. Genet. 75: 291-293, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2881880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2881880</a>] [<a href="https://doi.org/10.1007/BF00281077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2881880">Friedrich et al. (1987)</a> cited evidence from somatic cell hybrid studies using cells with various chromosome 19 rearrangements that the PEPD locus is unequivocally on the long arm of chromosome 19. Thus, PEPD is located at 19cen-q13.11. Using a panel of human-rodent somatic cell hybrids containing different regions of chromosome 19, <a href="#5" class="mim-tip-reference" title="Davis, M. B., Schonk, D., Monteiro, M., Oerlemans, F., Povey, S., Wieringa, B. <strong>Localization of PEPD to the long arm of chromosome 19.</strong> Ann. Hum. Genet. 51: 195-199, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3479944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3479944</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1987.tb00871.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3479944">Davis et al. (1987)</a> also assigned PEPD to the long arm of chromosome 19. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3000274+6881909+3459164+975880+6825466+3479944+2881880+318156" 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="#12" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 1/25/2010."None>Hartz (2010)</a> mapped the PEPD gene to chromosome 19q13.11 based on an alignment of the PEPD sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BT006692" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BT006692</a>) with the genomic sequence (GRCh37).</p>
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<p>Prolidase is involved in the final stage of degradation of endogenous and dietary proteins, in particular in collagen catabolism (<a href="#4" class="mim-tip-reference" title="Cunningham, D. F., O'Connor, B. <strong>Proline specific peptidases.</strong> Biochim. Biophys. Acta 1343: 160-186, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9434107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9434107</a>] [<a href="https://doi.org/10.1016/s0167-4838(97)00134-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9434107">Cunningham and O'Connor, 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9434107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#15" class="mim-tip-reference" title="Lewis, W. H. P., Harris, H. <strong>Peptidase D (prolidase) variants in man.</strong> Ann. Hum. Genet. 32: 317-322, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5822321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5822321</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1969.tb00081.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5822321">Lewis and Harris (1969)</a> identified a number of electrophoretic variants of peptidase D of red cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5822321" 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>Data on gene frequencies of allelic variants were tabulated by <a href="#24" class="mim-tip-reference" title="Roychoudhury, A. K., Nei, M. <strong>Human Polymorphic Genes: World Distribution.</strong> New York: Oxford Univ. Press (pub.) 1988."None>Roychoudhury and Nei (1988)</a>.</p><p>In 2 unrelated patients with prolidase deficiency (<a href="/entry/170100">170100</a>), <a href="#27" class="mim-tip-reference" title="Tanoue, A., Endo, F., Kitano, A., Matsuda, I. <strong>A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency: expression of the mutant enzyme in NIH 3T3 cells.</strong> J. Clin. Invest. 86: 351-355, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365824</a>] [<a href="https://doi.org/10.1172/JCI114708" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2365824">Tanoue et al. (1990)</a> identified homozygosity for a mutation in the PEPD gene (<a href="#0001">613230.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2365824" 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="#29" class="mim-tip-reference" title="Wang, H., Kurien, B. T., Lundgren, D., Patel, N. C., Kaufman, K. M., Miller, D. L., Porter, A. C., D'Souza, A., Nye, L., Tumbush, J., Hupertz, V., Kerr, D. S., Kurono, S., Matsumoto, H., Scofield, R. H. <strong>A nonsense mutation of PEPD in four Amish children with prolidase deficiency.</strong> Am. J. Med. Genet. 140A: 580-585, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16470701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16470701</a>] [<a href="https://doi.org/10.1002/ajmg.a.31134" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16470701">Wang et al. (2006)</a> reported 4 Geauga Amish children with prolidase deficiency, born of consanguineous parents whose ancestry could be traced to common ascendants 7 or 8 generations back, in whom they identified a homozygous nonsense mutation in the PEPD gene (<a href="#0008">613230.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16470701" 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="Falik-Zaccai, T. C., Khayat, M., Luder, A., Frenkel, P., Magen, D., Brik, R., Gershoni-Baruch, R., Mandel, H. <strong>A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.</strong> Am. J. Med. Genet. 153B: 46-56, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19308961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19308961</a>] [<a href="https://doi.org/10.1002/ajmg.b.30945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19308961">Falik-Zaccai et al. (2010)</a> identified the same PEPD mutation (S202F; <a href="#0011">613230.0011</a>) in 17 patients from northern Israel with prolidase deficiency. The patients were from 6 Druze kindreds living in 4 different villages and from 2 Arab Muslim kindreds living in 2 different villages. The separate practices of consanguinity and endogamy reduce the likelihood of genetic interchange between these 2 groups, but haplotype analysis indicated a founder effect. The findings refuted the possibility of the Druze being a homogeneous population, and suggested that the mutation arose before the establishment of the Druze community. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19308961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Endo, F., Tanoue, A., Nakai, H., Hata, A., Indo, Y., Titani, K., Matsuda, I. <strong>Primary structure and gene localization of human prolidase.</strong> J. Biol. Chem. 264: 4476-4481, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2925654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2925654</a>]" pmid="2925654">Endo et al. (1989)</a> sequenced a cDNA that codes for the entire mature protein of prolidase. They assigned the gene to 19p13.2 by in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2925654" 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>11 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=613230[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121917721 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917721;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/rs121917721?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=rs121917721" 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=rs121917721" 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=RCV000000232 OR RCV000520088" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000232, RCV000520088" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000232...</a>
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<p>In 2 unrelated patients with polypeptide-positive (CRM-positive) prolidase deficiency (<a href="/entry/170100">170100</a>), <a href="#27" class="mim-tip-reference" title="Tanoue, A., Endo, F., Kitano, A., Matsuda, I. <strong>A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency: expression of the mutant enzyme in NIH 3T3 cells.</strong> J. Clin. Invest. 86: 351-355, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365824</a>] [<a href="https://doi.org/10.1172/JCI114708" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2365824">Tanoue et al. (1990)</a> demonstrated a G-to-A substitution at nucleotide 826 in exon 12 of the PEPD gene, resulting in replacement of aspartic acid by asparagine at amino acid residue 276 (D276N). Both patients were homozygous for this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2365824" 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=RCV000000233" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000233" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000233</a>
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<p><a href="#28" class="mim-tip-reference" title="Tanoue, A., Endo, F., Matsuda, I. <strong>Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency.</strong> J. Biol. Chem. 265: 11306-11311, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1972707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1972707</a>]" pmid="1972707">Tanoue et al. (1990)</a> analyzed DNA from 3 patients with prolidase deficiency (<a href="/entry/170100">170100</a>) by Southern blot analysis after TaqI or BamHI digestion. A partial deletion of several hundred basepairs in the PEPD gene, which eliminated exon 14, was found in a patient and her affected sister, who were the offspring of a consanguineous mating (<a href="#7" class="mim-tip-reference" title="Endo, F., Tanoue, A., Kitano, A., Arata, J., Danks, D. M., Lapiere, C. M., Sei, Y., Wadman, S. K., Matsuda, I. <strong>Biochemical basis of prolidase deficiency: polypeptide acid RNA phenotypes and the relation to clinical phenotypes.</strong> J. Clin. Invest. 85: 162-169, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1688567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1688567</a>] [<a href="https://doi.org/10.1172/JCI114407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1688567">Endo et al., 1990</a>). The defect appeared to be homozygous. No major abnormality in gene structure was found in 2 other patients. <a href="#26" class="mim-tip-reference" title="Tanoue, A., Endo, F., Akaboshi, I., Oono, T., Arata, J., Matsuda, I. <strong>Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms: a 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide.</strong> J. Clin. Invest. 87: 1171-1176, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2010534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2010534</a>] [<a href="https://doi.org/10.1172/JCI115115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2010534">Tanoue et al. (1991)</a> gave further details: the 774-bp deletion had termini within short, direct repeats. 'Slipped mispairing' was thought to have been involved in the generation of the deletion. The mutation caused a 192-bp in-frame deletion of prolidase mRNA. The parents were consanguineous. The oldest sister, 25 years of age at the time of report, developed skin lesions at the age of 19 months and required specific treatment. Her homozygous sister had no prominent changes in the skin until age 18 years. Both were negative for immunologic crossreacting material, and there was no residual activity of prolidase in the fibroblasts. Both excreted massive amounts of imidodipeptide in the urine. Erythrocyte prolidase activities were about 50% of the control value in the first-cousin parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1688567+1972707+2010534" 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 PROLIDASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121917722 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917722;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/rs121917722?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=rs121917722" 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=rs121917722" 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=RCV000000235 OR RCV003555875" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000235, RCV003555875" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000235...</a>
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<p>In an individual with prolidase deficiency (<a href="/entry/170100">170100</a>) who was asymptomatic at age 11 years, <a href="#14" class="mim-tip-reference" title="Ledoux, P., Scriver, C. R., Hechtman, P. <strong>Expression and molecular analysis of mutations in prolidase deficiency.</strong> Am. J. Hum. Genet. 59: 1035-1039, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900231</a>]" pmid="8900231">Ledoux et al. (1996)</a> demonstrated compound heterozygosity for a G-to-A transition at nucleotide 551 in exon 8 (R184Q) and a G-to-A transition of nucleotide 833 in exon 123 (G278D; <a href="#0004">613230.0004</a>) in the PEPD gene. To assess the biochemical phenotypes of these and 2 previously identified PEPD mutations (G448R, <a href="#0005">613230.0005</a> and E452DEL, <a href="#0006">613230.0006</a>), they designed a transient expression system for prolidase in COS-1 cells. The enzyme was expressed as a fusion protein carrying an N-terminal tag, allowing its immunologic discrimination from the endogenous enzyme with a monoclonal antibody. Expression of the R184Q mutation produced 7.4% of control enzymatic activity, whereas the expression of the other 3 mutations produced inactive enzymes. Western analysis of the R184Q, G278D, and G448R prolidases revealed stable immunoreactive material whereas the E452DEL prolidase was not detectable. Pulse-chase metabolic labeling of cells followed by immunoprecipitation revealed that the E452DEL mutant protein was synthesized but had an increased rate of degradation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8900231" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 PROLIDASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121917723 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917723;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/rs121917723?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=rs121917723" 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=rs121917723" 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=RCV000000236 OR RCV002512597" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000236, RCV002512597" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000236...</a>
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<p>For discussion of the gly278-to-asp (G278D) mutation in the PEPD gene that was found in compound heterozygous state in a patient with prolidase deficiency (<a href="/entry/170100">170100</a>) by <a href="#14" class="mim-tip-reference" title="Ledoux, P., Scriver, C. R., Hechtman, P. <strong>Expression and molecular analysis of mutations in prolidase deficiency.</strong> Am. J. Hum. Genet. 59: 1035-1039, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900231</a>]" pmid="8900231">Ledoux et al. (1996)</a>, see <a href="#0003">613230.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8900231" 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 PROLIDASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121917724 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917724;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/rs121917724?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=rs121917724" 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=rs121917724" 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=RCV000000237 OR RCV002512598" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000237, RCV002512598" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000237...</a>
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<p>In a patient with prolidase deficiency (<a href="/entry/170100">170100</a>), <a href="#13" class="mim-tip-reference" title="Ledoux, P., Scriver, C., Hechtman, P. <strong>Four novel PEPD alleles causing prolidase deficiency.</strong> Am. J. Hum. Genet. 54: 1014-1021, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198124</a>]" pmid="8198124">Ledoux et al. (1994)</a> identified homozygosity for a 1342G-A transition in exon 14 of the PEPD gene, resulting in a gly448-to-arg (G448R) substitution. In another patient with prolidase deficiency, they identified this mutation in heterozygosity; the mutation on the other allele was not yet identified. Also see <a href="#0003">613230.0003</a> and <a href="#14" class="mim-tip-reference" title="Ledoux, P., Scriver, C. R., Hechtman, P. <strong>Expression and molecular analysis of mutations in prolidase deficiency.</strong> Am. J. Hum. Genet. 59: 1035-1039, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900231</a>]" pmid="8900231">Ledoux et al. (1996)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8900231+8198124" 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 2 brothers with prolidase deficiency, <a href="#10" class="mim-tip-reference" title="Forlino, A., Lupi, A., Vaghi, P., Cornaglia, A. I., Calligaro, A., Campari, E., Cetta, G. <strong>Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.</strong> Hum. Genet. 111: 314-322, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12384772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12384772</a>] [<a href="https://doi.org/10.1007/s00439-002-0792-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12384772">Forlino et al. (2002)</a> identified the G448R mutation in the PEPD gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12384772" 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 PROLIDASE DEFICIENCY</strong>
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PEPD, 3-BP DEL, GLU452DEL
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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> rs757386104 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs757386104;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/rs757386104?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=rs757386104" 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=rs757386104" 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=RCV000000238 OR RCV001851506" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000238, RCV001851506" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000238...</a>
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<p>In a patient with prolidase deficiency (<a href="/entry/170100">170100</a>), <a href="#13" class="mim-tip-reference" title="Ledoux, P., Scriver, C., Hechtman, P. <strong>Four novel PEPD alleles causing prolidase deficiency.</strong> Am. J. Hum. Genet. 54: 1014-1021, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198124</a>]" pmid="8198124">Ledoux et al. (1994)</a> identified heterozygosity for a 3-bp deletion in exon 15 of the PEPD gene, resulting in deletion of glutamic acid at residue 452 (E452DEL). The mutation on the other allele was not yet identified. Also see <a href="#0003">613230.0003</a> and <a href="#14" class="mim-tip-reference" title="Ledoux, P., Scriver, C. R., Hechtman, P. <strong>Expression and molecular analysis of mutations in prolidase deficiency.</strong> Am. J. Hum. Genet. 59: 1035-1039, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900231</a>]" pmid="8900231">Ledoux et al. (1996)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8900231+8198124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<strong>.0007 PROLIDASE DEFICIENCY</strong>
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PEPD, 3-BP DEL, 707TAC
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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> rs745834191 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs745834191;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/rs745834191?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=rs745834191" 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=rs745834191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000273249 OR RCV000986209 OR RCV004754394" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000273249, RCV000986209, RCV004754394" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000273249...</a>
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<p>In 2 unrelated Portuguese patients with prolidase deficiency (<a href="/entry/170100">170100</a>), <a href="#16" class="mim-tip-reference" title="Lupi, A., De Riso, A., Torre, S. D., Rossi, A., Campari, E., Vilarinho, L., Cetta, G., Forlino, A. <strong>Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.</strong> J. Hum. Genet. 49: 500-506, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15309682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15309682</a>] [<a href="https://doi.org/10.1007/s10038-004-0180-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15309682">Lupi et al. (2004)</a> identified a homozygous 3-bp deletion in exon 10 of the PEPD gene, 707delTAC, resulting in deletion of a tyrosine at codon 231 (tyr231). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15309682" 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 PROLIDASE DEFICIENCY</strong>
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PEPD, ARG265TER
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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> rs121917725 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917725;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/rs121917725?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=rs121917725" 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=rs121917725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000239 OR RCV003555876" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000239, RCV003555876" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000239...</a>
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<p>In 4 Geauga Amish children with prolidase deficiency (<a href="/entry/170100">170100</a>), born of consanguineous parents and whose ancestry could be traced to common ascendants 7 or 8 generations back, <a href="#29" class="mim-tip-reference" title="Wang, H., Kurien, B. T., Lundgren, D., Patel, N. C., Kaufman, K. M., Miller, D. L., Porter, A. C., D'Souza, A., Nye, L., Tumbush, J., Hupertz, V., Kerr, D. S., Kurono, S., Matsumoto, H., Scofield, R. H. <strong>A nonsense mutation of PEPD in four Amish children with prolidase deficiency.</strong> Am. J. Med. Genet. 140A: 580-585, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16470701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16470701</a>] [<a href="https://doi.org/10.1002/ajmg.a.31134" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16470701">Wang et al. (2006)</a> identified homozygosity for a 793T-C transition in exon 11 of the PEPD gene, resulting in an arg265-to-ter (R265X) substitution. The authors stated that the phenotype in these patients appeared to be more severe than in previously reported patients, and noted that prolidase activity was nearly undetectable in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16470701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0009 PROLIDASE DEFICIENCY</strong>
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PEPD, GLU412LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606944 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606944;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=rs267606944" 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=rs267606944" 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=RCV000000240" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000240" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000240</a>
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<p>In 2 Turkish sisters with prolidase deficiency (<a href="/entry/170100">170100</a>), <a href="#17" class="mim-tip-reference" title="Lupi, A., Rossi, A., Campari, E., Pecora, F., Lund, A. M., Elcioglu, N. H., Gultepe, M., Di Rocco, M., Cetta, G., Forlino, A. <strong>Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.</strong> J. Med. Genet. 43: e58, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17142620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17142620</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17142620[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/10.1136/jmg.2006.043315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17142620">Lupi et al. (2006)</a> identified homozygosity for a 1234G-A transition in the PEPD gene, resulting in a glu412-to-lys (E412K) substitution. The 21-year-old proband had eczema-like lesions on the face during childhood; following trauma after puberty, she had recurrent severe leg ulcers. She had no prolidase activity in her erythrocytes or serum. Her 29-year-old sister had no ulcers or any other typical symptoms of prolidase deficiency but had no prolidase activity in her serum or erythrocytes. Their parents were heterozygous for the mutation, which was not found in their healthy brother. Glu412 is a highly conserved residue among different species. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17142620" 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>.0010 PROLIDASE DEFICIENCY</strong>
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PEPD, 13-BP DUP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs794728008 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs794728008;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=rs794728008" 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=rs794728008" 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=RCV000000241 OR RCV003555877" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000241, RCV003555877" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000241...</a>
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<p>In a Turkish woman with prolidase deficiency (<a href="/entry/170100">170100</a>), originally described by <a href="#22" class="mim-tip-reference" title="Pedersen, P. S., Christensen, E., Brandt, N. J. <strong>Prolidase deficiency.</strong> Acta Paediat. Scand. 72: 785-788, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6637477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6637477</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1983.tb09815.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6637477">Pedersen et al. (1983)</a>, <a href="#17" class="mim-tip-reference" title="Lupi, A., Rossi, A., Campari, E., Pecora, F., Lund, A. M., Elcioglu, N. H., Gultepe, M., Di Rocco, M., Cetta, G., Forlino, A. <strong>Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.</strong> J. Med. Genet. 43: e58, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17142620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17142620</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17142620[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/10.1136/jmg.2006.043315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17142620">Lupi et al. (2006)</a> identified a homozygous 13-bp duplication in exon 8 of the PEPD gene, generating a premature stop codon after 18 amino acids from the insertion site and resulting in the absence of prolidase. She had presented in the first year of life with developmental delay, skin ulcers, and failure to thrive. She was diagnosed with prolidase deficiency at age 4 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6637477+17142620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0011" class="mim-anchor"></a>
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<strong>.0011 PROLIDASE DEFICIENCY</strong>
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PEPD, SER202PHE
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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> rs267606943 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606943;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/rs267606943?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=rs267606943" 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=rs267606943" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000242" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000242" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000242</a>
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</span>
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<p>In 17 patients with prolidase deficiency (<a href="/entry/170100">170100</a>), <a href="#9" class="mim-tip-reference" title="Falik-Zaccai, T. C., Khayat, M., Luder, A., Frenkel, P., Magen, D., Brik, R., Gershoni-Baruch, R., Mandel, H. <strong>A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.</strong> Am. J. Med. Genet. 153B: 46-56, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19308961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19308961</a>] [<a href="https://doi.org/10.1002/ajmg.b.30945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19308961">Falik-Zaccai et al. (2010)</a> identified a homozygous 605C-T transition in exon 8 of the PEPD gene, resulting in a ser202-to-phe (S202F) substitution in a highly conserved residue. All patients with this mutation resided in a small geographic area in northern Israel, and there was a shared haplotype between Druze and Arab Muslims, suggesting a founder effect. There was marked intra- and interfamilial clinical variability, ranging from death in infancy to mild developmental delay or facial dysmorphism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19308961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Ball1985" class="mim-anchor"></a>
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Ball, S. P., Donald, J. A., Corney, G., Humphries, S. E.
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<strong>Linkage between the loci for peptidase D and apolipoprotein CII on chromosome 19.</strong>
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Ann. Hum. Genet. 49: 129-134, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3000274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3000274</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3000274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1985.tb01684.x" target="_blank">Full Text</a>]
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<a id="Brook1985" class="mim-anchor"></a>
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Brook, J. D., Shaw, D. J., Meredith, A. L., Worwood, M., Cowell, J., Scott, J., Knott, T. J., Litt, M., Bufton, L., Harper, P. S.
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<strong>A somatic cell hybrid panel for chromosome 19: localization of known genes and RFLPs and orientation of the linkage group. (Abstract)</strong>
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Cytogenet. Cell Genet. 40: 590-591, 1985.
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Brown, S., Lalley, P. A., Minna, J. D.
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<strong>Assignment of the gene for peptidase S (PEPS) to chromosome 4 in man and confirmation of peptidase D (PEPD) assignment.</strong>
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Cytogenet. Cell Genet. 22: 167-171, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/318156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">318156</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=318156" 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/10.1159/000130928" target="_blank">Full Text</a>]
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<a id="Cunningham1997" class="mim-anchor"></a>
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Cunningham, D. F., O'Connor, B.
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<strong>Proline specific peptidases.</strong>
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Biochim. Biophys. Acta 1343: 160-186, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9434107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9434107</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9434107" 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/s0167-4838(97)00134-9" target="_blank">Full Text</a>]
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<a id="Davis1987" class="mim-anchor"></a>
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Davis, M. B., Schonk, D., Monteiro, M., Oerlemans, F., Povey, S., Wieringa, B.
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<strong>Localization of PEPD to the long arm of chromosome 19.</strong>
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Ann. Hum. Genet. 51: 195-199, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3479944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3479944</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3479944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1987.tb00871.x" target="_blank">Full Text</a>]
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Eiberg, H., Mohr, J., Nielsen, L. S.
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<strong>Indication of linkage between the PEPD locus and the C3-LE-DM-SE-LU linkage group (and support for assignment of this linkage group to chromosome no. 19). (Abstract)</strong>
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Clin. Genet. 23: 228 only, 1983.
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Endo, F., Tanoue, A., Kitano, A., Arata, J., Danks, D. M., Lapiere, C. M., Sei, Y., Wadman, S. K., Matsuda, I.
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<strong>Biochemical basis of prolidase deficiency: polypeptide acid RNA phenotypes and the relation to clinical phenotypes.</strong>
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J. Clin. Invest. 85: 162-169, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1688567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1688567</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1688567" 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/10.1172/JCI114407" target="_blank">Full Text</a>]
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Endo, F., Tanoue, A., Nakai, H., Hata, A., Indo, Y., Titani, K., Matsuda, I.
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<strong>Primary structure and gene localization of human prolidase.</strong>
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J. Biol. Chem. 264: 4476-4481, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2925654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2925654</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2925654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Falik-Zaccai, T. C., Khayat, M., Luder, A., Frenkel, P., Magen, D., Brik, R., Gershoni-Baruch, R., Mandel, H.
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<strong>A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.</strong>
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Am. J. Med. Genet. 153B: 46-56, 2010.
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[<a href="https://doi.org/10.1002/ajmg.b.30945" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s10038-004-0180-1" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Tanoue, A., Endo, F., Matsuda, I.
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<strong>Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency.</strong>
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J. Biol. Chem. 265: 11306-11311, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1972707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1972707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1972707" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</li>
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<li>
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<a id="29" class="mim-anchor"></a>
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<a id="Wang2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, H., Kurien, B. T., Lundgren, D., Patel, N. C., Kaufman, K. M., Miller, D. L., Porter, A. C., D'Souza, A., Nye, L., Tumbush, J., Hupertz, V., Kerr, D. S., Kurono, S., Matsumoto, H., Scofield, R. H.
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<strong>A nonsense mutation of PEPD in four Amish children with prolidase deficiency.</strong>
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Am. J. Med. Genet. 140A: 580-585, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16470701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16470701</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16470701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31134" target="_blank">Full Text</a>]
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</p>
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<span class="mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 7/30/2010
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini : 1/25/2010
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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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</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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carol : 05/12/2015
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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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mcolton : 5/5/2015<br>joanna : 8/5/2013<br>wwang : 7/30/2010<br>ckniffin : 7/30/2010<br>terry : 2/2/2010<br>carol : 1/26/2010<br>terry : 1/25/2010<br>carol : 1/25/2010
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<span class="mim-font">
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<strong>*</strong> 613230
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<h3>
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<span class="mim-font">
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PEPTIDASE D; PEPD
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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PROLIDASE<br />
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IMIDODIPEPTIDASE
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PEPD</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 360994007, 410055005;
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<strong>
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<em>
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Cytogenetic location: 19q13.11
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Genomic coordinates <span class="small">(GRCh38)</span> : 19:33,386,950-33,521,791 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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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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Inheritance
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<th>
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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19q13.11
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<td>
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<span class="mim-font">
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Prolidase deficiency
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<td>
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<span class="mim-font">
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170100
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<td>
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<span class="mim-font">
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Autosomal recessive
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</td>
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<td>
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<span class="mim-font">
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3
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Peptidase D (EC 3.4.13.9), also known as prolidase, imidodipeptidase, proline dipeptidase, and aminoacyl-L-proline hydrolase, specifically splits iminodipeptides with C-terminal proline or hydroxyproline. The enzyme prolinase (EC 3.4.13.8) splits iminodipeptides with N-terminal proline or hydroxyproline. The 2 dipeptidases play an important role in collagen metabolism because of the high level of iminoacids in collagen (proline and hydroxyproline constitute 25%) (Royce and Steinmann, 2002) and seem to be important for protein catabolism in general (Lupi et al., 2008). </p>
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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>Endo et al. (1989) isolated prolidase cDNA clones from human liver and placenta cDNA libraries. The deduced mature enzyme contains 492 amino acids with a calculated molecular mass of 54.3 kD. Northern blot analysis detected a single mRNA of approximately 2.1 kb. </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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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Tanoue et al. (1990) demonstrated that the prolidase gene contains 15 exons and spans more than 130 kb. All of the splice donor and acceptor sites conform to the GT/AG rule. By nuclease S1 mapping and primer extension, they determined that the transcription initiation site is located 131 bases upstream from the initiation codon. A 'CAAT' box-like sequence was found 67 bases from the cap site, but there was no 'TATA' box-like sequence. There were 7 sets of sequences resembling the transcription factor Sp1 binding sites. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Peptidase D was assigned to chromosome 19 by McAlpine et al. (1976) and by Brown et al. (1978). Eiberg et al. (1983) showed that PEPD is probably linked to the C3-LE-DM-SE-LU linkage group, thus corroborating the assignment of this large group to chromosome 19. They found a lod score (male and female) for PEPD-Se of 2.14 at theta 0.05; a previous score of 0.94 at theta 0.20 was reported in other families. PEPD-C3 (male) gave positive scores. GPI and PEPD, which are on chromosome 19 in man, are on chromosome 9 of the Chinese hamster, and TPI, which is on chromosome 12 of man, is on Chinese hamster chromosome 8 (Siciliano et al., 1983). Linkage of peptidase D to myotonic dystrophy (O'Brien et al., 1983) proves the assignment of the Lutheran-secretor linkage group to chromosome 19 and provides regional assignment to 19pter-q13. Brook et al. (1985) gave a regionalization of 19p13.2-q13.2. Ball et al. (1985) found close linkage between PEPD and APOC2 (608083). Lusis et al. (1986) used a reciprocal whole arm translocation between the long arm of chromosome 19 and the short arm of chromosome 1 to determine that the APOC1, APOC2, APOE and GPI loci are on the long arm and the LDLR, C3 and PEPD loci on the short arm. They isolated a single lambda phage carrying APOC1 and part of APOE. These genes are 6 kb apart and arranged tandemly. APOC2 and APOE were previously shown to be tightly linked. Friedrich et al. (1987) cited evidence from somatic cell hybrid studies using cells with various chromosome 19 rearrangements that the PEPD locus is unequivocally on the long arm of chromosome 19. Thus, PEPD is located at 19cen-q13.11. Using a panel of human-rodent somatic cell hybrids containing different regions of chromosome 19, Davis et al. (1987) also assigned PEPD to the long arm of chromosome 19. </p><p>Hartz (2010) mapped the PEPD gene to chromosome 19q13.11 based on an alignment of the PEPD sequence (GenBank BT006692) with the genomic sequence (GRCh37).</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>Prolidase is involved in the final stage of degradation of endogenous and dietary proteins, in particular in collagen catabolism (Cunningham and O'Connor, 1997). </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>Lewis and Harris (1969) identified a number of electrophoretic variants of peptidase D of red cells. </p><p>Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).</p><p>In 2 unrelated patients with prolidase deficiency (170100), Tanoue et al. (1990) identified homozygosity for a mutation in the PEPD gene (613230.0001). </p><p>Wang et al. (2006) reported 4 Geauga Amish children with prolidase deficiency, born of consanguineous parents whose ancestry could be traced to common ascendants 7 or 8 generations back, in whom they identified a homozygous nonsense mutation in the PEPD gene (613230.0008). </p><p>Falik-Zaccai et al. (2010) identified the same PEPD mutation (S202F; 613230.0011) in 17 patients from northern Israel with prolidase deficiency. The patients were from 6 Druze kindreds living in 4 different villages and from 2 Arab Muslim kindreds living in 2 different villages. The separate practices of consanguinity and endogamy reduce the likelihood of genetic interchange between these 2 groups, but haplotype analysis indicated a founder effect. The findings refuted the possibility of the Druze being a homogeneous population, and suggested that the mutation arose before the establishment of the Druze community. </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">
|
|
<strong>History</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Endo et al. (1989) sequenced a cDNA that codes for the entire mature protein of prolidase. They assigned the gene to 19p13.2 by in situ hybridization. </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>11 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 PROLIDASE DEFICIENCY</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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PEPD, ASP276ASN
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<br />
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SNP: rs121917721,
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gnomAD: rs121917721,
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ClinVar: RCV000000232, RCV000520088
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 2 unrelated patients with polypeptide-positive (CRM-positive) prolidase deficiency (170100), Tanoue et al. (1990) demonstrated a G-to-A substitution at nucleotide 826 in exon 12 of the PEPD gene, resulting in replacement of aspartic acid by asparagine at amino acid residue 276 (D276N). Both patients were homozygous for this mutation. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0002 PROLIDASE DEFICIENCY</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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PEPD, EX14DEL
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<br />
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ClinVar: RCV000000233
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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>Tanoue et al. (1990) analyzed DNA from 3 patients with prolidase deficiency (170100) by Southern blot analysis after TaqI or BamHI digestion. A partial deletion of several hundred basepairs in the PEPD gene, which eliminated exon 14, was found in a patient and her affected sister, who were the offspring of a consanguineous mating (Endo et al., 1990). The defect appeared to be homozygous. No major abnormality in gene structure was found in 2 other patients. Tanoue et al. (1991) gave further details: the 774-bp deletion had termini within short, direct repeats. 'Slipped mispairing' was thought to have been involved in the generation of the deletion. The mutation caused a 192-bp in-frame deletion of prolidase mRNA. The parents were consanguineous. The oldest sister, 25 years of age at the time of report, developed skin lesions at the age of 19 months and required specific treatment. Her homozygous sister had no prominent changes in the skin until age 18 years. Both were negative for immunologic crossreacting material, and there was no residual activity of prolidase in the fibroblasts. Both excreted massive amounts of imidodipeptide in the urine. Erythrocyte prolidase activities were about 50% of the control value in the first-cousin parents. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0003 PROLIDASE DEFICIENCY</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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PEPD, ARG184GLN
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<br />
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SNP: rs121917722,
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gnomAD: rs121917722,
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ClinVar: RCV000000235, RCV003555875
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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 an individual with prolidase deficiency (170100) who was asymptomatic at age 11 years, Ledoux et al. (1996) demonstrated compound heterozygosity for a G-to-A transition at nucleotide 551 in exon 8 (R184Q) and a G-to-A transition of nucleotide 833 in exon 123 (G278D; 613230.0004) in the PEPD gene. To assess the biochemical phenotypes of these and 2 previously identified PEPD mutations (G448R, 613230.0005 and E452DEL, 613230.0006), they designed a transient expression system for prolidase in COS-1 cells. The enzyme was expressed as a fusion protein carrying an N-terminal tag, allowing its immunologic discrimination from the endogenous enzyme with a monoclonal antibody. Expression of the R184Q mutation produced 7.4% of control enzymatic activity, whereas the expression of the other 3 mutations produced inactive enzymes. Western analysis of the R184Q, G278D, and G448R prolidases revealed stable immunoreactive material whereas the E452DEL prolidase was not detectable. Pulse-chase metabolic labeling of cells followed by immunoprecipitation revealed that the E452DEL mutant protein was synthesized but had an increased rate of degradation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0004 PROLIDASE DEFICIENCY</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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PEPD, GLY278ASP
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<br />
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SNP: rs121917723,
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gnomAD: rs121917723,
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ClinVar: RCV000000236, RCV002512597
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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 gly278-to-asp (G278D) mutation in the PEPD gene that was found in compound heterozygous state in a patient with prolidase deficiency (170100) by Ledoux et al. (1996), see 613230.0003. </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 PROLIDASE DEFICIENCY</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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PEPD, GLY448ARG
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<br />
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SNP: rs121917724,
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gnomAD: rs121917724,
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ClinVar: RCV000000237, RCV002512598
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|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with prolidase deficiency (170100), Ledoux et al. (1994) identified homozygosity for a 1342G-A transition in exon 14 of the PEPD gene, resulting in a gly448-to-arg (G448R) substitution. In another patient with prolidase deficiency, they identified this mutation in heterozygosity; the mutation on the other allele was not yet identified. Also see 613230.0003 and Ledoux et al. (1996). </p><p>In 2 brothers with prolidase deficiency, Forlino et al. (2002) identified the G448R mutation in the PEPD gene. </p>
|
|
</span>
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|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 PROLIDASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
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PEPD, 3-BP DEL, GLU452DEL
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<br />
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SNP: rs757386104,
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|
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|
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gnomAD: rs757386104,
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|
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ClinVar: RCV000000238, RCV001851506
|
|
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|
|
</span>
|
|
</div>
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with prolidase deficiency (170100), Ledoux et al. (1994) identified heterozygosity for a 3-bp deletion in exon 15 of the PEPD gene, resulting in deletion of glutamic acid at residue 452 (E452DEL). The mutation on the other allele was not yet identified. Also see 613230.0003 and Ledoux et al. (1996). </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 PROLIDASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEPD, 3-BP DEL, 707TAC
|
|
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|
|
<br />
|
|
|
|
SNP: rs745834191,
|
|
|
|
|
|
gnomAD: rs745834191,
|
|
|
|
|
|
ClinVar: RCV000273249, RCV000986209, RCV004754394
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated Portuguese patients with prolidase deficiency (170100), Lupi et al. (2004) identified a homozygous 3-bp deletion in exon 10 of the PEPD gene, 707delTAC, resulting in deletion of a tyrosine at codon 231 (tyr231). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 PROLIDASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEPD, ARG265TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121917725,
|
|
|
|
|
|
gnomAD: rs121917725,
|
|
|
|
|
|
ClinVar: RCV000000239, RCV003555876
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 Geauga Amish children with prolidase deficiency (170100), born of consanguineous parents and whose ancestry could be traced to common ascendants 7 or 8 generations back, Wang et al. (2006) identified homozygosity for a 793T-C transition in exon 11 of the PEPD gene, resulting in an arg265-to-ter (R265X) substitution. The authors stated that the phenotype in these patients appeared to be more severe than in previously reported patients, and noted that prolidase activity was nearly undetectable in these patients. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 PROLIDASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEPD, GLU412LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267606944,
|
|
|
|
|
|
|
|
ClinVar: RCV000000240
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Turkish sisters with prolidase deficiency (170100), Lupi et al. (2006) identified homozygosity for a 1234G-A transition in the PEPD gene, resulting in a glu412-to-lys (E412K) substitution. The 21-year-old proband had eczema-like lesions on the face during childhood; following trauma after puberty, she had recurrent severe leg ulcers. She had no prolidase activity in her erythrocytes or serum. Her 29-year-old sister had no ulcers or any other typical symptoms of prolidase deficiency but had no prolidase activity in her serum or erythrocytes. Their parents were heterozygous for the mutation, which was not found in their healthy brother. Glu412 is a highly conserved residue among different species. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 PROLIDASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEPD, 13-BP DUP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs794728008,
|
|
|
|
|
|
|
|
ClinVar: RCV000000241, RCV003555877
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Turkish woman with prolidase deficiency (170100), originally described by Pedersen et al. (1983), Lupi et al. (2006) identified a homozygous 13-bp duplication in exon 8 of the PEPD gene, generating a premature stop codon after 18 amino acids from the insertion site and resulting in the absence of prolidase. She had presented in the first year of life with developmental delay, skin ulcers, and failure to thrive. She was diagnosed with prolidase deficiency at age 4 years. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 PROLIDASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEPD, SER202PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267606943,
|
|
|
|
|
|
gnomAD: rs267606943,
|
|
|
|
|
|
ClinVar: RCV000000242
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 17 patients with prolidase deficiency (170100), Falik-Zaccai et al. (2010) identified a homozygous 605C-T transition in exon 8 of the PEPD gene, resulting in a ser202-to-phe (S202F) substitution in a highly conserved residue. All patients with this mutation resided in a small geographic area in northern Israel, and there was a shared haplotype between Druze and Arab Muslims, suggesting a founder effect. There was marked intra- and interfamilial clinical variability, ranging from death in infancy to mild developmental delay or facial dysmorphism. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
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|
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|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ball, S. P., Donald, J. A., Corney, G., Humphries, S. E.
|
|
<strong>Linkage between the loci for peptidase D and apolipoprotein CII on chromosome 19.</strong>
|
|
Ann. Hum. Genet. 49: 129-134, 1985.
|
|
|
|
|
|
[PubMed: 3000274]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1469-1809.1985.tb01684.x]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brook, J. D., Shaw, D. J., Meredith, A. L., Worwood, M., Cowell, J., Scott, J., Knott, T. J., Litt, M., Bufton, L., Harper, P. S.
|
|
<strong>A somatic cell hybrid panel for chromosome 19: localization of known genes and RFLPs and orientation of the linkage group. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 40: 590-591, 1985.
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brown, S., Lalley, P. A., Minna, J. D.
|
|
<strong>Assignment of the gene for peptidase S (PEPS) to chromosome 4 in man and confirmation of peptidase D (PEPD) assignment.</strong>
|
|
Cytogenet. Cell Genet. 22: 167-171, 1978.
|
|
|
|
|
|
[PubMed: 318156]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000130928]
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cunningham, D. F., O'Connor, B.
|
|
<strong>Proline specific peptidases.</strong>
|
|
Biochim. Biophys. Acta 1343: 160-186, 1997.
|
|
|
|
|
|
[PubMed: 9434107]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0167-4838(97)00134-9]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Davis, M. B., Schonk, D., Monteiro, M., Oerlemans, F., Povey, S., Wieringa, B.
|
|
<strong>Localization of PEPD to the long arm of chromosome 19.</strong>
|
|
Ann. Hum. Genet. 51: 195-199, 1987.
|
|
|
|
|
|
[PubMed: 3479944]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1469-1809.1987.tb00871.x]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Eiberg, H., Mohr, J., Nielsen, L. S.
|
|
<strong>Indication of linkage between the PEPD locus and the C3-LE-DM-SE-LU linkage group (and support for assignment of this linkage group to chromosome no. 19). (Abstract)</strong>
|
|
Clin. Genet. 23: 228 only, 1983.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Endo, F., Tanoue, A., Kitano, A., Arata, J., Danks, D. M., Lapiere, C. M., Sei, Y., Wadman, S. K., Matsuda, I.
|
|
<strong>Biochemical basis of prolidase deficiency: polypeptide acid RNA phenotypes and the relation to clinical phenotypes.</strong>
|
|
J. Clin. Invest. 85: 162-169, 1990.
|
|
|
|
|
|
[PubMed: 1688567]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI114407]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Endo, F., Tanoue, A., Nakai, H., Hata, A., Indo, Y., Titani, K., Matsuda, I.
|
|
<strong>Primary structure and gene localization of human prolidase.</strong>
|
|
J. Biol. Chem. 264: 4476-4481, 1989.
|
|
|
|
|
|
[PubMed: 2925654]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Falik-Zaccai, T. C., Khayat, M., Luder, A., Frenkel, P., Magen, D., Brik, R., Gershoni-Baruch, R., Mandel, H.
|
|
<strong>A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.</strong>
|
|
Am. J. Med. Genet. 153B: 46-56, 2010.
|
|
|
|
|
|
[PubMed: 19308961]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.b.30945]
|
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Forlino, A., Lupi, A., Vaghi, P., Cornaglia, A. I., Calligaro, A., Campari, E., Cetta, G.
|
|
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