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<title>
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Entry
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- *611715 - STEROID 5-ALPHA-REDUCTASE 3; SRD5A3
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- OMIM
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</div>
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*611715</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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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/611715">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000128039;t=ENST00000264228" 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=79644" 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=611715" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000128039;t=ENST00000264228" 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_001410732,NM_024592,XM_005265767,XM_017008601" 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_024592" 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=611715" 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=07825&isoform_id=07825_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/SRD5A3" 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/10435343,12803325,13375785,48146741,63990127,74733864,119625870,530376837,1034641121,2286439523,2462598854,2462598856" 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/Q9H8P0" 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=79644" 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=ENSG00000128039;t=ENST00000264228" 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=SRD5A3" 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=SRD5A3" 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+79644" 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/SRD5A3" 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:79644" 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/79644" 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=chr4&hgg_gene=ENST00000264228.9&hgg_start=55346242&hgg_end=55373100&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:25812" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/srd5a3" 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=611715[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=611715[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/SRD5A3/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/ENSG00000128039" 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=SRD5A3" 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=SRD5A3" 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=SRD5A3" 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=SRD5A3&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/PA162404779" 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:25812" 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/FBgn0032014.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:1930252" 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/SRD5A3#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:1930252" 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/79644/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=79644" 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=WBGene00007102;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-030131-7915" 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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79644" 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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<div><a href="https://reactome.org/content/query?q=SRD5A3&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> 733601006<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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611715
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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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STEROID 5-ALPHA-REDUCTASE 3; SRD5A3
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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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
STEROID 5-ALPHA-REDUCTASE 2-LIKE 1; SRD5A2L1<br />
|
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SRD5A2L<br />
|
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POLYPRENOL REDUCTASE
|
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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=SRD5A3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SRD5A3</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/4/228?start=-3&limit=10&highlight=228">4q12</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:55346242-55373100&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'})">4:55,346,242-55,373,100</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>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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Congenital disorder of glycosylation, type Iq
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<li><a href="/graph/radial/611715" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<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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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p><a href="#7" class="mim-tip-reference" title="Uemura, M., Tamura, K., Chung, S., Honma, S., Okuyama, A., Nakamura, Y., Nakagawa, H. <strong>Novel 5-alpha-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer.</strong> Cancer Sci. 99: 81-86, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17986282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17986282</a>] [<a href="https://doi.org/10.1111/j.1349-7006.2007.00656.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17986282">Uemura et al. (2008)</a> performed a genomewide study of hormone-refractory prostate cancers (HRPC; see <a href="/entry/176807">176807</a>) using cDNA expression arrays to identify abnormally expressed transcripts. The SRD5A3 gene, which was identified by the screen, was confirmed by RT-PCR and Northern blot analyses to be upregulated in HRPC cells but to have little, if any, expression in normal adult organs. The deduced 318-amino acid protein shares sequence similarity and a conserved C-terminal region with steroid 5-alpha-reductases SRD5A1 (<a href="/entry/184753">184753</a>) and SRD5A2 (<a href="/entry/607306">607306</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17986282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., De Brouwer, A. P., Blumel, P., and 13 others. <strong>SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.</strong> Cell 142: 203-217, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20637498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20637498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20637498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20637498">Cantagrel et al. (2010)</a> identified SRD5A3 as the human ortholog of yeast Dfg10 and determined that SRD5A3 contains 6 predicted transmembrane domains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20637498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., De Brouwer, A. P., Blumel, P., and 13 others. <strong>SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.</strong> Cell 142: 203-217, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20637498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20637498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20637498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20637498">Cantagrel et al. (2010)</a> noted that the SRD5A3 gene contains 5 exons spanning 25.5 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20637498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Scott, A. F. <strong>Personal Communication.</strong> Baltimore, Md. 1/4/2008."None>Scott (2008)</a> mapped the SRD5A3 gene to chromosome 4q12 based on an alignment of the SRD5A3 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AC064824" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AC064824</a>) with the genomic sequence (build 36.2).</p>
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<p><a href="#7" class="mim-tip-reference" title="Uemura, M., Tamura, K., Chung, S., Honma, S., Okuyama, A., Nakamura, Y., Nakagawa, H. <strong>Novel 5-alpha-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer.</strong> Cancer Sci. 99: 81-86, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17986282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17986282</a>] [<a href="https://doi.org/10.1111/j.1349-7006.2007.00656.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17986282">Uemura et al. (2008)</a> showed that recombinant SRD5A3 encodes a steroid 5-alpha-reductase that produces the androgen 5-alpha-dihydrotestosterone (DHT) from testosterone. Mutant SRD5A3 proteins with changes in regions known to affect other SRD5 proteins also abrogated SRD5A3 activity. Knockdown of SRD5A3 expression in an HRPC cell line by siRNA resulted in a significant decrease in DHT production and a marked reduction in cell viability. <a href="#7" class="mim-tip-reference" title="Uemura, M., Tamura, K., Chung, S., Honma, S., Okuyama, A., Nakamura, Y., Nakagawa, H. <strong>Novel 5-alpha-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer.</strong> Cancer Sci. 99: 81-86, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17986282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17986282</a>] [<a href="https://doi.org/10.1111/j.1349-7006.2007.00656.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17986282">Uemura et al. (2008)</a> concluded that SRD5A3 is associated with DHT production and maintenance of the androgen-androgen receptor activation pathway in HRPC cells and may represent a target for prostate cancer therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17986282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., De Brouwer, A. P., Blumel, P., and 13 others. <strong>SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.</strong> Cell 142: 203-217, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20637498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20637498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20637498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20637498">Cantagrel et al. (2010)</a> demonstrated the SRD5A3 and the yeast ortholog Dfg10 are necessary for conversion of the alpha-isoprene unit of polyprenol to form dolichol in human, mouse, and yeast, and thus acts as a polyprenol reductase. The findings also indicated that the reduction of polyprenol is the major pathway for dolichol biosynthesis during N-glycosylation. However, cells depleted of SRD5A3 enzyme had some residual dolichol, suggesting the existence of an alternative pathway for de novo dolichol biosynthesis. <a href="#2" class="mim-tip-reference" title="Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., De Brouwer, A. P., Blumel, P., and 13 others. <strong>SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.</strong> Cell 142: 203-217, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20637498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20637498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20637498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20637498">Cantagrel et al. (2010)</a> did not find evidence that substrates of SRD5A3 are related to steroids, but noted that polyprenols share a common origin with cholesterol, because they are also built from isoprene units. Finally, patients with SRD5A3 deficiency (CDG1Q; <a href="/entry/612379">612379</a>) did not have sexual abnormalities, which also suggested that SRD5A3 does not function as a steroid reductase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20637498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By linkage analysis followed by candidate gene sequencing of a family reported by <a href="#1" class="mim-tip-reference" title="Al-Gazali, L., Hertecant, J., Algawi, K., El Teraifi, H., Dattani, M. <strong>A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.</strong> Am. J. Med. Genet. 146A: 813-819, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18271001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18271001</a>] [<a href="https://doi.org/10.1002/ajmg.a.32114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18271001">Al-Gazali et al. (2008)</a> with a multisystem disorder characterized by ocular anomalies, mental retardation, cerebellar defects, and biochemical evidence of a congenital disorder of glycosylation type 1 (CDG1Q; <a href="/entry/612379">612379</a>), <a href="#2" class="mim-tip-reference" title="Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., De Brouwer, A. P., Blumel, P., and 13 others. <strong>SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.</strong> Cell 142: 203-217, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20637498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20637498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20637498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20637498">Cantagrel et al. (2010)</a> identified a homozygous mutation in the SRD5A3 gene (<a href="#0001">611715.0001</a>). Analysis of similarly affected families identified 6 others with homozygous or compound heterozygous SRD5A3 mutations (see, e.g., <a href="#0002">611715.0002</a>-<a href="#0005">611715.0005</a>). Altogether, there were 11 affected children from 7 families. The mutation spectrum was consistent with a loss of function. The phenotype included ocular anomalies, such as coloboma and optic disc atrophy with loss of vision, mental retardation, cerebellar malformations, and coagulation defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18271001+20637498" 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 3 sibs, born of consanguineous Iranian parents, with Kahrizi syndrome (KHRZ; <a href="/entry/612713">612713</a>) (<a href="#4" class="mim-tip-reference" title="Kahrizi, K., Najmabadi, H., Kariminejad, R., Jamali, P., Malekpour, M., Garshasbi, M., Ropers, H. H., Kuss, A. W., Tzschach, A. <strong>An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.</strong> Europ. J. Hum. Genet. 17: 125-128, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18781183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18781183</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18781183[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/10.1038/ejhg.2008.159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18781183">Kahrizi et al., 2009</a>), <a href="#3" class="mim-tip-reference" title="Kahrizi, K., Hu, C. H., Garshasbi, M., Abedini, S. S., Ghadami, S., Kariminejad, R., Ullmann, R., Chen, W., Ropers, H.-H., Kuss, A. W., Najmabadi, H., Tzschach, A. <strong>Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.</strong> Europ. J. Hum. Genet. 19: 115-117, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20700148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20700148</a>] [<a href="https://doi.org/10.1038/ejhg.2010.132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20700148">Kahrizi et al. (2011)</a> identified a truncating mutation in the SRD5A3 gene (<a href="#0006">611715.0006</a>). RT-PCR analysis showed missing or reduced expression of the SRD5A3 gene in patient lymphoblastoid cells. The phenotype was characterized by mental retardation, cataracts, coloboma, and kyphosis. However, biochemical studies showed no clear abnormal transferrin mobility in routine testing for CDG. The mutation was identified by array-based exon enrichment and next-generation sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18781183+20700148" 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="#5" class="mim-tip-reference" title="Najmabadi, H., Hu. H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., Zecha, A., Mohseni, M., and 33 others. <strong>Deep sequencing reveals 50 novel genes for recessive cognitive disorders.</strong> Nature 478: 57-63, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21937992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21937992</a>] [<a href="https://doi.org/10.1038/nature10423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21937992">Najmabadi et al. (2011)</a> performed homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian and less than 10% Turkish or Arab) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability. They reported members of 2 separate families with Kahrizi syndrome and a congenital disorder of glycosylation who had homozygous mutations in the SRD5A3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21937992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., De Brouwer, A. P., Blumel, P., and 13 others. <strong>SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.</strong> Cell 142: 203-217, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20637498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20637498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20637498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20637498">Cantagrel et al. (2010)</a> found that loss of Srd5a3 in mice was embryonic lethal at day E12.5. Affected embryos were smaller than controls, and failed to undergo axial rotation. Asymptomatic heterozygous carriers showed strong gene expression in the yolk sac, eyes, heart, and neural tube. Homozygous mutants often showed dilated hearts and open neural tubes. Transcriptome analysis of homozygous mutant mice embryos showed a 20% upregulation of genes involved in regulation of the unfolded protein response. These findings suggested that SRD5A3 is required for ER protein folding, which is a primary role of N-glycan during development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20637498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776521 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776521;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=rs587776521" 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=rs587776521" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a consanguineous Emirati family of Baluch origin, previously reported by <a href="#1" class="mim-tip-reference" title="Al-Gazali, L., Hertecant, J., Algawi, K., El Teraifi, H., Dattani, M. <strong>A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.</strong> Am. J. Med. Genet. 146A: 813-819, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18271001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18271001</a>] [<a href="https://doi.org/10.1002/ajmg.a.32114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18271001">Al-Gazali et al. (2008)</a>, with autosomal recessive congenital disorder of glycosylation type Iq (CDG1Q; <a href="/entry/612379">612379</a>), <a href="#2" class="mim-tip-reference" title="Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., De Brouwer, A. P., Blumel, P., and 13 others. <strong>SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.</strong> Cell 142: 203-217, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20637498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20637498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20637498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20637498">Cantagrel et al. (2010)</a> identified a homozygous molecular arrangement involving the SRD5A3 gene: a 3-bp deletion and a 10-bp insertion (286delCAAinsTGAGTAAGGC) in exon 2, resulting in a predicted stop codon at amino acid 96 in transmembrane domain II. The change was not found in 192 control chromosomes from geographically matched controls. Another affected Emirati family of Baluch origin was also homozygous for this mutation. The phenotype included ocular anomalies, such as coloboma and optic disc atrophy with loss of vision, mental retardation, cerebellar malformations, and coagulation defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18271001+20637498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267607093 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607093;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/rs267607093?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=rs267607093" 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=rs267607093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a consanguineous Turkish family with congenital disorder of glycosylation type Iq (CDG1Q; <a href="/entry/612379">612379</a>), <a href="#2" class="mim-tip-reference" title="Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., De Brouwer, A. P., Blumel, P., and 13 others. <strong>SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.</strong> Cell 142: 203-217, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20637498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20637498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20637498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20637498">Cantagrel et al. (2010)</a> identified a homozygous 320G-A transition in the SRD5A3 gene, resulting in a trp107-to-ter (W107X) substitution in the first intracellular loop. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20637498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607095 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607095;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=rs267607095" 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=rs267607095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a Polish family with congenital disorder of glycosylation type Iq (CDG1Q; <a href="/entry/612379">612379</a>), <a href="#2" class="mim-tip-reference" title="Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., De Brouwer, A. P., Blumel, P., and 13 others. <strong>SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.</strong> Cell 142: 203-217, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20637498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20637498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20637498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20637498">Cantagrel et al. (2010)</a> identified compound heterozygosity for 2 mutations in the SRD5A3 gene: a 424C-T transition, resulting in an arg142-to-ter (R142X) substitution in transmembrane domain II, and a 489C-A transversion, resulting in a tyr163-to-ter (Y163X; <a href="#0004">611715.0004</a>) substitution in transmembrane domain IV. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20637498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607092 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607092;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=rs267607092" 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=rs267607092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 489C-A transversion in the SRD5A3 gene, resulting in a tyr163-to-ter (Y163X) substitution, that was found in compound heterozygous state in affected members of a family with congenital disorder of glycosylation type Iq (CDG1Q; <a href="/entry/612379">612379</a>) by <a href="#2" class="mim-tip-reference" title="Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., De Brouwer, A. P., Blumel, P., and 13 others. <strong>SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.</strong> Cell 142: 203-217, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20637498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20637498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20637498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20637498">Cantagrel et al. (2010)</a>, see <a href="#0003">611715.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20637498" 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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq</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">rs267607094 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607094;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=rs267607094" 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=rs267607094" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a consanguineous Turkish family with congenital disorder of glycosylation type Iq (CDG1Q; <a href="/entry/612379">612379</a>), <a href="#2" class="mim-tip-reference" title="Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., De Brouwer, A. P., Blumel, P., and 13 others. <strong>SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.</strong> Cell 142: 203-217, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20637498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20637498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20637498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20637498">Cantagrel et al. (2010)</a> identified a homozygous 29C-A transversion in the SRD5A3 gene, resulting in a ser10-to-ter (S10X) substitution near the intracellular N terminus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20637498" 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 KAHRIZI SYNDROME</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">rs869320736 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869320736;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=rs869320736" 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=rs869320736" 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=RCV000023917" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023917" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023917</a>
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<p>In 3 sibs, born of consanguineous Iranian parents, with Kahrizi syndrome (KHRZ; <a href="/entry/612713">612713</a>), previously reported by (<a href="#4" class="mim-tip-reference" title="Kahrizi, K., Najmabadi, H., Kariminejad, R., Jamali, P., Malekpour, M., Garshasbi, M., Ropers, H. H., Kuss, A. W., Tzschach, A. <strong>An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.</strong> Europ. J. Hum. Genet. 17: 125-128, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18781183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18781183</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18781183[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/10.1038/ejhg.2008.159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18781183">Kahrizi et al., 2009</a>), <a href="#3" class="mim-tip-reference" title="Kahrizi, K., Hu, C. H., Garshasbi, M., Abedini, S. S., Ghadami, S., Kariminejad, R., Ullmann, R., Chen, W., Ropers, H.-H., Kuss, A. W., Najmabadi, H., Tzschach, A. <strong>Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.</strong> Europ. J. Hum. Genet. 19: 115-117, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20700148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20700148</a>] [<a href="https://doi.org/10.1038/ejhg.2010.132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20700148">Kahrizi et al. (2011)</a> identified a homozygous 1-bp duplication (203dupC) in exon 1 of the SRD5A3 gene, resulting in a frameshift and premature termination. Each unaffected parent and 2 unaffected sibs were heterozygous for the mutation, which was not found in 366 control chromosomes. RT-PCR analysis showed missing or reduced expression of the SRD5A3 gene in patient lymphoblastoid cells. The phenotype was characterized by mental retardation, cataracts, coloboma, and kyphosis. However, biochemical studies showed no clear abnormal transferrin mobility in routine testing for CDG. The mutation was identified by array-based exon enrichment and next-generation sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18781183+20700148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Al-Gazali, L., Hertecant, J., Algawi, K., El Teraifi, H., Dattani, M.
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<strong>A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.</strong>
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Am. J. Med. Genet. 146A: 813-819, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18271001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18271001</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18271001" 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.32114" target="_blank">Full Text</a>]
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Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., De Brouwer, A. P., Blumel, P., and 13 others.
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<strong>SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.</strong>
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Cell 142: 203-217, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20637498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20637498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20637498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20637498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.cell.2010.06.001" target="_blank">Full Text</a>]
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Kahrizi, K., Hu, C. H., Garshasbi, M., Abedini, S. S., Ghadami, S., Kariminejad, R., Ullmann, R., Chen, W., Ropers, H.-H., Kuss, A. W., Najmabadi, H., Tzschach, A.
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<strong>Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.</strong>
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Europ. J. Hum. Genet. 19: 115-117, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20700148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20700148</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20700148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2010.132" target="_blank">Full Text</a>]
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Kahrizi, K., Najmabadi, H., Kariminejad, R., Jamali, P., Malekpour, M., Garshasbi, M., Ropers, H. H., Kuss, A. W., Tzschach, A.
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<strong>An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.</strong>
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Europ. J. Hum. Genet. 17: 125-128, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18781183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18781183</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18781183[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18781183" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2008.159" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Najmabadi2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Najmabadi, H., Hu. H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., Zecha, A., Mohseni, M., and 33 others.
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<strong>Deep sequencing reveals 50 novel genes for recessive cognitive disorders.</strong>
|
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Nature 478: 57-63, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21937992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21937992</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21937992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature10423" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Scott2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scott, A. F.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1/4/2008.
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</p>
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</div>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Uemura2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Uemura, M., Tamura, K., Chung, S., Honma, S., Okuyama, A., Nakamura, Y., Nakagawa, H.
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<strong>Novel 5-alpha-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer.</strong>
|
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Cancer Sci. 99: 81-86, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17986282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17986282</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17986282" 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.1349-7006.2007.00656.x" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 1/6/2012
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 1/3/2012<br>Cassandra L. Kniffin - updated : 9/10/2010
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Alan F. Scott : 1/4/2008
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</span>
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</div>
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</div>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/31/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/09/2021<br>carol : 08/06/2021<br>carol : 08/05/2021<br>carol : 10/21/2016<br>carol : 03/25/2016<br>joanna : 1/6/2012<br>terry : 1/6/2012<br>joanna : 1/6/2012<br>terry : 1/6/2012<br>carol : 1/3/2012<br>ckniffin : 1/3/2012<br>carol : 12/15/2010<br>ckniffin : 12/15/2010<br>wwang : 9/10/2010<br>wwang : 9/10/2010<br>ckniffin : 9/10/2010<br>carol : 1/4/2008<br>carol : 1/4/2008
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</span>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611715
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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STEROID 5-ALPHA-REDUCTASE 3; SRD5A3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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STEROID 5-ALPHA-REDUCTASE 2-LIKE 1; SRD5A2L1<br />
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SRD5A2L<br />
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POLYPRENOL REDUCTASE
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SRD5A3</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 733601006;
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</span>
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</p>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 4q12
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Genomic coordinates <span class="small">(GRCh38)</span> : 4:55,346,242-55,373,100 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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4q12
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</span>
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</td>
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<td>
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<span class="mim-font">
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Congenital disorder of glycosylation, type Iq
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</span>
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</td>
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<td>
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<span class="mim-font">
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612379
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Kahrizi syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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612713
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Uemura et al. (2008) performed a genomewide study of hormone-refractory prostate cancers (HRPC; see 176807) using cDNA expression arrays to identify abnormally expressed transcripts. The SRD5A3 gene, which was identified by the screen, was confirmed by RT-PCR and Northern blot analyses to be upregulated in HRPC cells but to have little, if any, expression in normal adult organs. The deduced 318-amino acid protein shares sequence similarity and a conserved C-terminal region with steroid 5-alpha-reductases SRD5A1 (184753) and SRD5A2 (607306). </p><p>Cantagrel et al. (2010) identified SRD5A3 as the human ortholog of yeast Dfg10 and determined that SRD5A3 contains 6 predicted transmembrane domains. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cantagrel et al. (2010) noted that the SRD5A3 gene contains 5 exons spanning 25.5 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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<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>Scott (2008) mapped the SRD5A3 gene to chromosome 4q12 based on an alignment of the SRD5A3 sequence (GenBank AC064824) with the genomic sequence (build 36.2).</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>Uemura et al. (2008) showed that recombinant SRD5A3 encodes a steroid 5-alpha-reductase that produces the androgen 5-alpha-dihydrotestosterone (DHT) from testosterone. Mutant SRD5A3 proteins with changes in regions known to affect other SRD5 proteins also abrogated SRD5A3 activity. Knockdown of SRD5A3 expression in an HRPC cell line by siRNA resulted in a significant decrease in DHT production and a marked reduction in cell viability. Uemura et al. (2008) concluded that SRD5A3 is associated with DHT production and maintenance of the androgen-androgen receptor activation pathway in HRPC cells and may represent a target for prostate cancer therapy. </p><p>Cantagrel et al. (2010) demonstrated the SRD5A3 and the yeast ortholog Dfg10 are necessary for conversion of the alpha-isoprene unit of polyprenol to form dolichol in human, mouse, and yeast, and thus acts as a polyprenol reductase. The findings also indicated that the reduction of polyprenol is the major pathway for dolichol biosynthesis during N-glycosylation. However, cells depleted of SRD5A3 enzyme had some residual dolichol, suggesting the existence of an alternative pathway for de novo dolichol biosynthesis. Cantagrel et al. (2010) did not find evidence that substrates of SRD5A3 are related to steroids, but noted that polyprenols share a common origin with cholesterol, because they are also built from isoprene units. Finally, patients with SRD5A3 deficiency (CDG1Q; 612379) did not have sexual abnormalities, which also suggested that SRD5A3 does not function as a steroid reductase. </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>By linkage analysis followed by candidate gene sequencing of a family reported by Al-Gazali et al. (2008) with a multisystem disorder characterized by ocular anomalies, mental retardation, cerebellar defects, and biochemical evidence of a congenital disorder of glycosylation type 1 (CDG1Q; 612379), Cantagrel et al. (2010) identified a homozygous mutation in the SRD5A3 gene (611715.0001). Analysis of similarly affected families identified 6 others with homozygous or compound heterozygous SRD5A3 mutations (see, e.g., 611715.0002-611715.0005). Altogether, there were 11 affected children from 7 families. The mutation spectrum was consistent with a loss of function. The phenotype included ocular anomalies, such as coloboma and optic disc atrophy with loss of vision, mental retardation, cerebellar malformations, and coagulation defects. </p><p>In 3 sibs, born of consanguineous Iranian parents, with Kahrizi syndrome (KHRZ; 612713) (Kahrizi et al., 2009), Kahrizi et al. (2011) identified a truncating mutation in the SRD5A3 gene (611715.0006). RT-PCR analysis showed missing or reduced expression of the SRD5A3 gene in patient lymphoblastoid cells. The phenotype was characterized by mental retardation, cataracts, coloboma, and kyphosis. However, biochemical studies showed no clear abnormal transferrin mobility in routine testing for CDG. The mutation was identified by array-based exon enrichment and next-generation sequencing. </p><p>Najmabadi et al. (2011) performed homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian and less than 10% Turkish or Arab) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability. They reported members of 2 separate families with Kahrizi syndrome and a congenital disorder of glycosylation who had homozygous mutations in the SRD5A3 gene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Animal Model</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cantagrel et al. (2010) found that loss of Srd5a3 in mice was embryonic lethal at day E12.5. Affected embryos were smaller than controls, and failed to undergo axial rotation. Asymptomatic heterozygous carriers showed strong gene expression in the yolk sac, eyes, heart, and neural tube. Homozygous mutants often showed dilated hearts and open neural tubes. Transcriptome analysis of homozygous mutant mice embryos showed a 20% upregulation of genes involved in regulation of the unfolded protein response. These findings suggested that SRD5A3 is required for ER protein folding, which is a primary role of N-glycan during development. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq</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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SRD5A3, 3-BP DEL/10-BP INS, NT286
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<br />
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SNP: rs587776521,
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ClinVar: RCV000000890, RCV004798740
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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 affected members of a consanguineous Emirati family of Baluch origin, previously reported by Al-Gazali et al. (2008), with autosomal recessive congenital disorder of glycosylation type Iq (CDG1Q; 612379), Cantagrel et al. (2010) identified a homozygous molecular arrangement involving the SRD5A3 gene: a 3-bp deletion and a 10-bp insertion (286delCAAinsTGAGTAAGGC) in exon 2, resulting in a predicted stop codon at amino acid 96 in transmembrane domain II. The change was not found in 192 control chromosomes from geographically matched controls. Another affected Emirati family of Baluch origin was also homozygous for this mutation. The phenotype included ocular anomalies, such as coloboma and optic disc atrophy with loss of vision, mental retardation, cerebellar malformations, and coagulation defects. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq</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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SRD5A3, TRP107TER
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<br />
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SNP: rs267607093,
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gnomAD: rs267607093,
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ClinVar: RCV000000891, RCV001781294
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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 affected members of a consanguineous Turkish family with congenital disorder of glycosylation type Iq (CDG1Q; 612379), Cantagrel et al. (2010) identified a homozygous 320G-A transition in the SRD5A3 gene, resulting in a trp107-to-ter (W107X) substitution in the first intracellular loop. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq</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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SRD5A3, ARG142TER
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<br />
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SNP: rs267607095,
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ClinVar: RCV000000892, RCV001814006
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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 affected members of a Polish family with congenital disorder of glycosylation type Iq (CDG1Q; 612379), Cantagrel et al. (2010) identified compound heterozygosity for 2 mutations in the SRD5A3 gene: a 424C-T transition, resulting in an arg142-to-ter (R142X) substitution in transmembrane domain II, and a 489C-A transversion, resulting in a tyr163-to-ter (Y163X; 611715.0004) substitution in transmembrane domain IV. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq</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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SRD5A3, TYR163TER
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<br />
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SNP: rs267607092,
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ClinVar: RCV000000893
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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 489C-A transversion in the SRD5A3 gene, resulting in a tyr163-to-ter (Y163X) substitution, that was found in compound heterozygous state in affected members of a family with congenital disorder of glycosylation type Iq (CDG1Q; 612379) by Cantagrel et al. (2010), see 611715.0003. </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>
|
|
<span class="mim-font">
|
|
<strong>.0005 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
|
|
SRD5A3, SER10TER
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<br />
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|
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SNP: rs267607094,
|
|
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|
|
ClinVar: RCV000000894
|
|
|
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|
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</span>
|
|
</div>
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Turkish family with congenital disorder of glycosylation type Iq (CDG1Q; 612379), Cantagrel et al. (2010) identified a homozygous 29C-A transversion in the SRD5A3 gene, resulting in a ser10-to-ter (S10X) substitution near the intracellular N terminus. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 KAHRIZI SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SRD5A3, 1-BP DUP, 203C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs869320736,
|
|
|
|
|
|
|
|
ClinVar: RCV000023917
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 sibs, born of consanguineous Iranian parents, with Kahrizi syndrome (KHRZ; 612713), previously reported by (Kahrizi et al., 2009), Kahrizi et al. (2011) identified a homozygous 1-bp duplication (203dupC) in exon 1 of the SRD5A3 gene, resulting in a frameshift and premature termination. Each unaffected parent and 2 unaffected sibs were heterozygous for the mutation, which was not found in 366 control chromosomes. RT-PCR analysis showed missing or reduced expression of the SRD5A3 gene in patient lymphoblastoid cells. The phenotype was characterized by mental retardation, cataracts, coloboma, and kyphosis. However, biochemical studies showed no clear abnormal transferrin mobility in routine testing for CDG. The mutation was identified by array-based exon enrichment and next-generation sequencing. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
</div>
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</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Al-Gazali, L., Hertecant, J., Algawi, K., El Teraifi, H., Dattani, M.
|
|
<strong>A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.</strong>
|
|
Am. J. Med. Genet. 146A: 813-819, 2008.
|
|
|
|
|
|
[PubMed: 18271001]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.32114]
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., De Brouwer, A. P., Blumel, P., and 13 others.
|
|
<strong>SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.</strong>
|
|
Cell 142: 203-217, 2010.
|
|
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|
|
[PubMed: 20637498]
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|
|
[Full Text: https://doi.org/10.1016/j.cell.2010.06.001]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kahrizi, K., Hu, C. H., Garshasbi, M., Abedini, S. S., Ghadami, S., Kariminejad, R., Ullmann, R., Chen, W., Ropers, H.-H., Kuss, A. W., Najmabadi, H., Tzschach, A.
|
|
<strong>Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.</strong>
|
|
Europ. J. Hum. Genet. 19: 115-117, 2011.
|
|
|
|
|
|
[PubMed: 20700148]
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|
|
[Full Text: https://doi.org/10.1038/ejhg.2010.132]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kahrizi, K., Najmabadi, H., Kariminejad, R., Jamali, P., Malekpour, M., Garshasbi, M., Ropers, H. H., Kuss, A. W., Tzschach, A.
|
|
<strong>An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.</strong>
|
|
Europ. J. Hum. Genet. 17: 125-128, 2009.
|
|
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|
|
[PubMed: 18781183]
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|
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[Full Text: https://doi.org/10.1038/ejhg.2008.159]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Najmabadi, H., Hu. H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., Zecha, A., Mohseni, M., and 33 others.
|
|
<strong>Deep sequencing reveals 50 novel genes for recessive cognitive disorders.</strong>
|
|
Nature 478: 57-63, 2011.
|
|
|
|
|
|
[PubMed: 21937992]
|
|
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|
|
[Full Text: https://doi.org/10.1038/nature10423]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Scott, A. F.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 1/4/2008.
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Uemura, M., Tamura, K., Chung, S., Honma, S., Okuyama, A., Nakamura, Y., Nakagawa, H.
|
|
<strong>Novel 5-alpha-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer.</strong>
|
|
Cancer Sci. 99: 81-86, 2008.
|
|
|
|
|
|
[PubMed: 17986282]
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|
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|
|
[Full Text: https://doi.org/10.1111/j.1349-7006.2007.00656.x]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 1/6/2012<br>Cassandra L. Kniffin - updated : 1/3/2012<br>Cassandra L. Kniffin - updated : 9/10/2010
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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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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Alan F. Scott : 1/4/2008
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</span>
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</div>
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carol : 01/31/2024<br>carol : 08/09/2021<br>carol : 08/06/2021<br>carol : 08/05/2021<br>carol : 10/21/2016<br>carol : 03/25/2016<br>joanna : 1/6/2012<br>terry : 1/6/2012<br>joanna : 1/6/2012<br>terry : 1/6/2012<br>carol : 1/3/2012<br>ckniffin : 1/3/2012<br>carol : 12/15/2010<br>ckniffin : 12/15/2010<br>wwang : 9/10/2010<br>wwang : 9/10/2010<br>ckniffin : 9/10/2010<br>carol : 1/4/2008<br>carol : 1/4/2008
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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