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<title>
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Entry
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- *184753 - STEROID 5-ALPHA-REDUCTASE 1; SRD5A1
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- OMIM
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</ul>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="row">
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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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<div class="form-group">
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<div class="input-group">
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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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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</li>
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<li role="separator" class="divider"></li>
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<li>
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<a href="/history"> Search History </a>
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</li>
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</ul>
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</div>
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</div>
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<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
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</div>
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<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
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<span class="small">
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</form>
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<div class="row">
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<p />
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</div>
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<div class="container hidden-print">
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<div id="mimAlertBanner">
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</div>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*184753</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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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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</li>
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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>
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFamily">Gene Family</a>
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</li>
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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>
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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>
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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>
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</div>
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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">
|
|
<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=ENSG00000145545;t=ENST00000274192" 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=6715" 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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|
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=184753" 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=ENSG00000145545;t=ENST00000274192" 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_001047,NM_001324322,NM_001324323,NR_136739" 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_001047" 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=184753" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
|
<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
|
</a>
|
|
</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=01699&isoform_id=01699_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/SRD5A1" 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/134151,177767,338476,3329488,3329490,3329492,3329494,3360435,4507201,6523819,13937855,14250468,30582507,32891811,119628508,119628509,189053646,221041694,221041842,221045380,1024249271,1024249344" 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/P18405" 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=6715" 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=ENSG00000145545;t=ENST00000274192" 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=SRD5A1" 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=SRD5A1" 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+6715" 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/SRD5A1" 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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<div><a href="https://www.ncbi.nlm.nih.gov/gene/6715" 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=chr5&hgg_gene=ENST00000274192.7&hgg_start=6633440&hgg_end=6674386&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 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=184753[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=184753[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000145545" 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=SRD5A1" 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=SRD5A1" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SRD5A1&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/PA36112" 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:11284" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:98400" 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/SRD5A1#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:98400" 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/6715/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=6715" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00008959;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00008959 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00009635;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00009635 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-060929-938" 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:6715" 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=SRD5A1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<div>
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<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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184753
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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 1; SRD5A1
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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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<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=SRD5A1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SRD5A1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/5/40?start=-3&limit=10&highlight=40">5p15.31</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:6633440-6674386&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'})">5:6,633,440-6,674,386</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Steroid 5-alpha-reductase (<a href="https://enzyme.expasy.org/EC/1.3.99.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 1.3.99.5</a>) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (<a href="/entry/607306">607306</a>).</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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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#1" class="mim-tip-reference" title="Andersson, S., Russell, D. W. <strong>Structural and biochemical properties of cloned and expressed human and rat steroid 5-alpha-reductases.</strong> Proc. Nat. Acad. Sci. 87: 3640-3644, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2339109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2339109</a>] [<a href="https://doi.org/10.1073/pnas.87.10.3640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2339109">Andersson and Russell (1990)</a> described the structure of a cDNA encoding human steroid 5-alpha-reductase. Sequence analysis indicated that the enzyme is a hydrophobic protein of 259 amino acids with a predicted molecular mass of 29,462 Da. The human and rat proteins share 60% sequence identity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2339109" 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>Using a cDNA isolated from a prostate cDNA library for analysis of Chinese hamster/human somatic cell hybrid lines, <a href="#6" class="mim-tip-reference" title="Hsieh, C.-L., Milatovich, A., Russell, D., Francke, U. <strong>Chromosomal mapping of human steroid 5 alpha-reductase gene (SRD5A1) and pseudogene (SRD5AP1) in human and mouse. (Abstract)</strong> Cytogenet. Cell Genet. 58: 1897 only, 1991."None>Hsieh et al. (1991)</a> demonstrated that the steroid 5-alpha-reductase gene is located on chromosome 5 and on 5pter-q13 in a regional mapping panel. By in situ hybridization, the gene was localized to 5p15.</p><p><a href="#6" class="mim-tip-reference" title="Hsieh, C.-L., Milatovich, A., Russell, D., Francke, U. <strong>Chromosomal mapping of human steroid 5 alpha-reductase gene (SRD5A1) and pseudogene (SRD5AP1) in human and mouse. (Abstract)</strong> Cytogenet. Cell Genet. 58: 1897 only, 1991."None>Hsieh et al. (1991)</a> mapped the homologous gene (Srd5a-1) to mouse chromosome 13 in a panel of Chinese hamster or rat/mouse somatic cell hybrids and by study of recombinant inbred strains. A human pseudogene was found in the Xq24-qter region; no such gene was found in the mouse. Also see <a href="#9" class="mim-tip-reference" title="Jenkins, E. P., Hsieh, C.-L., Milatovich, A., Normington, K., Berman, D. M., Francke, U., Russell, D. W. <strong>Characterization and chromosomal mapping of a human steroid 5-alpha-reductase gene and pseudogene and mapping of the mouse homologue.</strong> Genomics 11: 1102-1112, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1686016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1686016</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90038-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1686016">Jenkins et al. (1991)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1686016" 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 bioinformatic analysis of SRD5A gene family members, <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> showed that proteins with a steroid 5-alpha-reductase domain could be separated into 3 groups. SRD5A1 and SRD5A2 belonged to 1 group, whereas SRD5A3 (<a href="/entry/611715">611715</a>), which is a polyprenol reductase, and its yeast ortholog Dfg10, constituted a second group. The third group consisted of TECR (<a href="/entry/610057">610057</a>), which is an enoyl reductase, and TECRL (<a href="/entry/617242">617242</a>). The phylogenetic analysis supported the idea that different classes of lipids can be substrates for these enzymes and suggested that the substrate of the enzyme encoded by the common ancestral gene was potentially not a steroid. <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="#5" class="mim-tip-reference" title="Harris, G., Azzolina, B., Baginsky, W., Cimis, G., Rasmusson, G. H., Tolman, R. L., Raetz, C. R. H., Ellsworth, K. <strong>Identification and selective inhibition of an isozyme of steroid 5-alpha-reductase in human scalp.</strong> Proc. Nat. Acad. Sci. 89: 10787-10791, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1438277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1438277</a>] [<a href="https://doi.org/10.1073/pnas.89.22.10787" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1438277">Harris et al. (1992)</a> concluded that SRD5A1 is a minor component of the reductase activity in prostate although the gene was originally cloned from prostate. On the other hand, SRD5A1 appears to be the predominant isozyme of steroid 5-alpha-reductase in the scalp and elsewhere in the skin. The possibility of scalp-selective inhibitors being useful in the treatment of male pattern baldness, acne, and hirsutism, all 'disorders' that appear to be dihydrotestosterone dependent, was raised. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1438277" 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>Investigating by immunoblotting the tissue-specific and developmental expression patterns of the 5-alpha-reductase isozymes, <a href="#10" class="mim-tip-reference" title="Thigpen, A. E., Silver, R. I., Guileyardo, J. M., Casey, M. L., McConnell, J. D., Russell, D. W. <strong>Tissue distribution and ontogeny of steroid 5-alpha-reductase isozyme expression.</strong> J. Clin. Invest. 92: 903-910, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7688765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7688765</a>] [<a href="https://doi.org/10.1172/JCI116665" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7688765">Thigpen et al. (1993)</a> showed that the type 1 isozyme is not detectable in the fetus, is transiently expressed in newborn skin and scalp, and is permanently expressed in skin from the time of puberty. There was no qualitative difference in 5-alpha-reductase type 1 expression between adult balding versus nonbalding scalp. The type 2 isozyme was transiently expressed in skin and scalp of newborns. Type 2 is the predominant isozyme detectable in fetal genital skin, in male accessory sex organs, and in the prostate, including benign prostatic hyperplasia and prostate adenocarcinoma tissues. These results were considered consistent with 5-alpha-reductase type 1 being responsible for the virilization in type 2-deficient subjects (see <a href="/entry/264600">264600</a>) during puberty and suggested that the type 2 isozyme may be an initiating factor in the development of male pattern baldness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7688765" 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>From a population survey of 828 healthy families comprising 3,000 individuals, <a href="#3" class="mim-tip-reference" title="Ellis, J. A., Stebbing, M., Harrap, S. B. <strong>Genetic analysis of male pattern baldness and the 5-alpha-reductase genes.</strong> J. Invest. Derm. 110: 849-853, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9620288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9620288</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1998.00224.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9620288">Ellis et al. (1998)</a> identified 58 young bald men (aged 18 to 30 years) and 114 older nonbald men (aged 50 to 70 years) for a case-control comparison. No significant differences were found between cases and controls in allele, genotype, or haplotype frequencies for RFLPs related to either the SRD5A1 or the SRD5A2 gene. These findings suggested that the genes encoding these 5-alpha-reductase isoenzymes are not associated with male pattern baldness. <a href="#3" class="mim-tip-reference" title="Ellis, J. A., Stebbing, M., Harrap, S. B. <strong>Genetic analysis of male pattern baldness and the 5-alpha-reductase genes.</strong> J. Invest. Derm. 110: 849-853, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9620288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9620288</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1998.00224.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9620288">Ellis et al. (1998)</a> failed to find a clear inheritance pattern of male pattern baldness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9620288" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Jakimiuk, A. J., Weitsman, S. R., Magoffin, D. A. <strong>5-alpha-reductase activity in women with polycystic ovary syndrome.</strong> J. Clin. Endocr. Metab. 84: 2414-2418, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10404813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10404813</a>] [<a href="https://doi.org/10.1210/jcem.84.7.5863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10404813">Jakimiuk et al. (1999)</a> sought to determine if there is increased SRD5A activity or mRNA expression in polycystic ovaries. SRD5A1 and SRD5A2 mRNAs were measured in thecal (TC) and granulosa (GC) cells from individual follicles of 18 women with polycystic ovary syndrome (PCOS; <a href="/entry/184700">184700</a>) and 26 regularly cycling control women. SRD5A1 and SRD5A2 mRNA expression was higher in GC than in TC, and SRD5A2 mRNA levels were approximately 3-fold higher than SRD5A1 mRNA. SRD5A1 and SRD5A2 mRNA expression was similar in GC from PCOS and control women, but SRD5A mRNA was decreased in TC from PCOS follicles. The total SRD5A activity was approximately 4-fold higher in PCOS follicles than in control follicles. These data demonstrated elevated SRD5A activity in polycystic ovaries and supported the hypothesis that 5-alpha-reduced androgens may play a role in the pathogenesis of PCOS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10404813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Jenkins, E. P., Andersson, S., Imperato-McGinley, J., Wilson, J. D., Russell, D. W. <strong>Genetic and pharmacological evidence for more than one human steroid 5-alpha-reductase.</strong> J. Clin. Invest. 89: 293-300, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1345916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1345916</a>] [<a href="https://doi.org/10.1172/JCI115574" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1345916">Jenkins et al. (1992)</a> used RFLPs of the SRD5A1 gene to exclude the gene as the site of the mutation in classic 5-alpha-reductase deficiency (pseudovaginal perineoscrotal hypospadias; <a href="/entry/264600">264600</a>). They further showed that in contrast to the major steroid 5-alpha-reductase in the prostate and cultured skin fibroblasts, which was designated SRD5A2, the cDNA-encoded enzyme, representing SRD5A1, exhibited a neutral to basic pH optimum and was much less sensitive to inhibition by the 4-aza steroid finasteride. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1345916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Goodarzi, M. O., Shah, N. A., Antoine, H. J., Pall, M., Guo, X., Azziz, R. <strong>Variants in the 5-alpha-reductase type 1 and type 2 genes are associated with polycystic ovary syndrome and the severity of hirsutism in affected women.</strong> J. Clin. Endocr. Metab. 91: 4085-4091, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16849416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16849416</a>] [<a href="https://doi.org/10.1210/jc.2006-0227" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16849416">Goodarzi et al. (2006)</a> tested the hypothesis that haplotypes in the SRD5A1 and SRD5A2 genes are risk factors for PCOS and the severity of hirsutism in affected women. A total of 287 white women with PCOS and 187 controls participated. Haplotypes within both genes were associated with PCOS risk. Haplotypes in SRD5A1 but not SRD5A2 were also associated with the degree of hirsutism in affected women. That only SRD5A1 haplotypes were associated with hirsutism suggested to <a href="#4" class="mim-tip-reference" title="Goodarzi, M. O., Shah, N. A., Antoine, H. J., Pall, M., Guo, X., Azziz, R. <strong>Variants in the 5-alpha-reductase type 1 and type 2 genes are associated with polycystic ovary syndrome and the severity of hirsutism in affected women.</strong> J. Clin. Endocr. Metab. 91: 4085-4091, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16849416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16849416</a>] [<a href="https://doi.org/10.1210/jc.2006-0227" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16849416">Goodarzi et al. (2006)</a> that only this isoform is important in the hair follicle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16849416" 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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Proc. Nat. Acad. Sci. 87: 3640-3644, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2339109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2339109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2339109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</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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<a id="3" class="mim-anchor"></a>
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<a id="Ellis1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ellis, J. A., Stebbing, M., Harrap, S. B.
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<strong>Genetic analysis of male pattern baldness and the 5-alpha-reductase genes.</strong>
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J. Invest. Derm. 110: 849-853, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9620288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9620288</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9620288" 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/10.1046/j.1523-1747.1998.00224.x" target="_blank">Full Text</a>]
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</p>
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<a id="4" class="mim-anchor"></a>
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<a id="Goodarzi2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Goodarzi, M. O., Shah, N. A., Antoine, H. J., Pall, M., Guo, X., Azziz, R.
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<strong>Variants in the 5-alpha-reductase type 1 and type 2 genes are associated with polycystic ovary syndrome and the severity of hirsutism in affected women.</strong>
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J. Clin. Endocr. Metab. 91: 4085-4091, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16849416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16849416</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16849416" 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/10.1210/jc.2006-0227" target="_blank">Full Text</a>]
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</p>
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<a id="5" class="mim-anchor"></a>
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<a id="Harris1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Harris, G., Azzolina, B., Baginsky, W., Cimis, G., Rasmusson, G. H., Tolman, R. L., Raetz, C. R. H., Ellsworth, K.
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<strong>Identification and selective inhibition of an isozyme of steroid 5-alpha-reductase in human scalp.</strong>
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Proc. Nat. Acad. Sci. 89: 10787-10791, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1438277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1438277</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1438277" 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/10.1073/pnas.89.22.10787" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Hsieh1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hsieh, C.-L., Milatovich, A., Russell, D., Francke, U.
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<strong>Chromosomal mapping of human steroid 5 alpha-reductase gene (SRD5A1) and pseudogene (SRD5AP1) in human and mouse. (Abstract)</strong>
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Cytogenet. Cell Genet. 58: 1897 only, 1991.
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</p>
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<a id="7" class="mim-anchor"></a>
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<a id="Jakimiuk1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jakimiuk, A. J., Weitsman, S. R., Magoffin, D. A.
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<strong>5-alpha-reductase activity in women with polycystic ovary syndrome.</strong>
|
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J. Clin. Endocr. Metab. 84: 2414-2418, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10404813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10404813</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10404813" 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/10.1210/jcem.84.7.5863" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Jenkins1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jenkins, E. P., Andersson, S., Imperato-McGinley, J., Wilson, J. D., Russell, D. W.
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<strong>Genetic and pharmacological evidence for more than one human steroid 5-alpha-reductase.</strong>
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J. Clin. Invest. 89: 293-300, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1345916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1345916</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1345916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI115574" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Jenkins1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jenkins, E. P., Hsieh, C.-L., Milatovich, A., Normington, K., Berman, D. M., Francke, U., Russell, D. W.
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<strong>Characterization and chromosomal mapping of a human steroid 5-alpha-reductase gene and pseudogene and mapping of the mouse homologue.</strong>
|
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Genomics 11: 1102-1112, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1686016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1686016</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1686016" 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/10.1016/0888-7543(91)90038-g" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Thigpen1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thigpen, A. E., Silver, R. I., Guileyardo, J. M., Casey, M. L., McConnell, J. D., Russell, D. W.
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<strong>Tissue distribution and ontogeny of steroid 5-alpha-reductase isozyme expression.</strong>
|
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J. Clin. Invest. 92: 903-910, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7688765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7688765</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7688765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI116665" target="_blank">Full Text</a>]
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</p>
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</div>
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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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<a id="contributors" class="mim-anchor"></a>
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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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Cassandra L. Kniffin - updated : 09/10/2010
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</span>
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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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John A. Phillips, III - updated : 7/13/2007<br>Cassandra L. Kniffin - reorganized : 10/18/2002<br>John A. Phillips, III - updated : 3/3/2000<br>Victor A. McKusick - updated : 9/15/1998
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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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Victor A. McKusick : 12/6/1991
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</span>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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<div 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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mgross : 12/06/2016
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 11/16/2016<br>wwang : 09/10/2010<br>carol : 1/4/2008<br>alopez : 7/13/2007<br>carol : 10/18/2002<br>ckniffin : 10/18/2002<br>mgross : 3/3/2000<br>carol : 9/18/1998<br>terry : 9/15/1998<br>dkim : 9/9/1998<br>carol : 12/14/1992<br>supermim : 3/16/1992<br>carol : 2/23/1992<br>carol : 2/12/1992<br>carol : 12/6/1991
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</span>
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<div class="container visible-print-block">
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 184753
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</span>
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</h3>
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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 1; SRD5A1
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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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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SRD5A1</em></strong>
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</span>
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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: 5p15.31
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:6,633,440-6,674,386 </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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<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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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (607306).</p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Andersson and Russell (1990) described the structure of a cDNA encoding human steroid 5-alpha-reductase. Sequence analysis indicated that the enzyme is a hydrophobic protein of 259 amino acids with a predicted molecular mass of 29,462 Da. The human and rat proteins share 60% sequence identity. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Using a cDNA isolated from a prostate cDNA library for analysis of Chinese hamster/human somatic cell hybrid lines, Hsieh et al. (1991) demonstrated that the steroid 5-alpha-reductase gene is located on chromosome 5 and on 5pter-q13 in a regional mapping panel. By in situ hybridization, the gene was localized to 5p15.</p><p>Hsieh et al. (1991) mapped the homologous gene (Srd5a-1) to mouse chromosome 13 in a panel of Chinese hamster or rat/mouse somatic cell hybrids and by study of recombinant inbred strains. A human pseudogene was found in the Xq24-qter region; no such gene was found in the mouse. Also see Jenkins et al. (1991). </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Family</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 bioinformatic analysis of SRD5A gene family members, Cantagrel et al. (2010) showed that proteins with a steroid 5-alpha-reductase domain could be separated into 3 groups. SRD5A1 and SRD5A2 belonged to 1 group, whereas SRD5A3 (611715), which is a polyprenol reductase, and its yeast ortholog Dfg10, constituted a second group. The third group consisted of TECR (610057), which is an enoyl reductase, and TECRL (617242). The phylogenetic analysis supported the idea that different classes of lipids can be substrates for these enzymes and suggested that the substrate of the enzyme encoded by the common ancestral gene was potentially not a steroid. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene 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>Harris et al. (1992) concluded that SRD5A1 is a minor component of the reductase activity in prostate although the gene was originally cloned from prostate. On the other hand, SRD5A1 appears to be the predominant isozyme of steroid 5-alpha-reductase in the scalp and elsewhere in the skin. The possibility of scalp-selective inhibitors being useful in the treatment of male pattern baldness, acne, and hirsutism, all 'disorders' that appear to be dihydrotestosterone dependent, was raised. </p><p>Investigating by immunoblotting the tissue-specific and developmental expression patterns of the 5-alpha-reductase isozymes, Thigpen et al. (1993) showed that the type 1 isozyme is not detectable in the fetus, is transiently expressed in newborn skin and scalp, and is permanently expressed in skin from the time of puberty. There was no qualitative difference in 5-alpha-reductase type 1 expression between adult balding versus nonbalding scalp. The type 2 isozyme was transiently expressed in skin and scalp of newborns. Type 2 is the predominant isozyme detectable in fetal genital skin, in male accessory sex organs, and in the prostate, including benign prostatic hyperplasia and prostate adenocarcinoma tissues. These results were considered consistent with 5-alpha-reductase type 1 being responsible for the virilization in type 2-deficient subjects (see 264600) during puberty and suggested that the type 2 isozyme may be an initiating factor in the development of male pattern baldness. </p><p>From a population survey of 828 healthy families comprising 3,000 individuals, Ellis et al. (1998) identified 58 young bald men (aged 18 to 30 years) and 114 older nonbald men (aged 50 to 70 years) for a case-control comparison. No significant differences were found between cases and controls in allele, genotype, or haplotype frequencies for RFLPs related to either the SRD5A1 or the SRD5A2 gene. These findings suggested that the genes encoding these 5-alpha-reductase isoenzymes are not associated with male pattern baldness. Ellis et al. (1998) failed to find a clear inheritance pattern of male pattern baldness. </p><p>Jakimiuk et al. (1999) sought to determine if there is increased SRD5A activity or mRNA expression in polycystic ovaries. SRD5A1 and SRD5A2 mRNAs were measured in thecal (TC) and granulosa (GC) cells from individual follicles of 18 women with polycystic ovary syndrome (PCOS; 184700) and 26 regularly cycling control women. SRD5A1 and SRD5A2 mRNA expression was higher in GC than in TC, and SRD5A2 mRNA levels were approximately 3-fold higher than SRD5A1 mRNA. SRD5A1 and SRD5A2 mRNA expression was similar in GC from PCOS and control women, but SRD5A mRNA was decreased in TC from PCOS follicles. The total SRD5A activity was approximately 4-fold higher in PCOS follicles than in control follicles. These data demonstrated elevated SRD5A activity in polycystic ovaries and supported the hypothesis that 5-alpha-reduced androgens may play a role in the pathogenesis of PCOS. </p>
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<strong>Molecular Genetics</strong>
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<p>Jenkins et al. (1992) used RFLPs of the SRD5A1 gene to exclude the gene as the site of the mutation in classic 5-alpha-reductase deficiency (pseudovaginal perineoscrotal hypospadias; 264600). They further showed that in contrast to the major steroid 5-alpha-reductase in the prostate and cultured skin fibroblasts, which was designated SRD5A2, the cDNA-encoded enzyme, representing SRD5A1, exhibited a neutral to basic pH optimum and was much less sensitive to inhibition by the 4-aza steroid finasteride. </p><p>Goodarzi et al. (2006) tested the hypothesis that haplotypes in the SRD5A1 and SRD5A2 genes are risk factors for PCOS and the severity of hirsutism in affected women. A total of 287 white women with PCOS and 187 controls participated. Haplotypes within both genes were associated with PCOS risk. Haplotypes in SRD5A1 but not SRD5A2 were also associated with the degree of hirsutism in affected women. That only SRD5A1 haplotypes were associated with hirsutism suggested to Goodarzi et al. (2006) that only this isoform is important in the hair follicle. </p>
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<strong>REFERENCES</strong>
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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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<p class="mim-text-font">
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Ellis, J. A., Stebbing, M., Harrap, S. B.
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<strong>Genetic analysis of male pattern baldness and the 5-alpha-reductase genes.</strong>
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Goodarzi, M. O., Shah, N. A., Antoine, H. J., Pall, M., Guo, X., Azziz, R.
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<strong>Variants in the 5-alpha-reductase type 1 and type 2 genes are associated with polycystic ovary syndrome and the severity of hirsutism in affected women.</strong>
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Harris, G., Azzolina, B., Baginsky, W., Cimis, G., Rasmusson, G. H., Tolman, R. L., Raetz, C. R. H., Ellsworth, K.
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<strong>Identification and selective inhibition of an isozyme of steroid 5-alpha-reductase in human scalp.</strong>
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Hsieh, C.-L., Milatovich, A., Russell, D., Francke, U.
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<strong>Chromosomal mapping of human steroid 5 alpha-reductase gene (SRD5A1) and pseudogene (SRD5AP1) in human and mouse. (Abstract)</strong>
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Jakimiuk, A. J., Weitsman, S. R., Magoffin, D. A.
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<strong>5-alpha-reductase activity in women with polycystic ovary syndrome.</strong>
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Jenkins, E. P., Andersson, S., Imperato-McGinley, J., Wilson, J. D., Russell, D. W.
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<strong>Genetic and pharmacological evidence for more than one human steroid 5-alpha-reductase.</strong>
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J. Clin. Invest. 89: 293-300, 1992.
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Jenkins, E. P., Hsieh, C.-L., Milatovich, A., Normington, K., Berman, D. M., Francke, U., Russell, D. W.
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<strong>Characterization and chromosomal mapping of a human steroid 5-alpha-reductase gene and pseudogene and mapping of the mouse homologue.</strong>
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Genomics 11: 1102-1112, 1991.
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Thigpen, A. E., Silver, R. I., Guileyardo, J. M., Casey, M. L., McConnell, J. D., Russell, D. W.
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<strong>Tissue distribution and ontogeny of steroid 5-alpha-reductase isozyme expression.</strong>
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J. Clin. Invest. 92: 903-910, 1993.
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[PubMed: 7688765]
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Cassandra L. Kniffin - updated : 09/10/2010<br>John A. Phillips, III - updated : 7/13/2007<br>Cassandra L. Kniffin - reorganized : 10/18/2002<br>John A. Phillips, III - updated : 3/3/2000<br>Victor A. McKusick - updated : 9/15/1998
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