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<title>
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Entry
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- *146690 - IMP DEHYDROGENASE 1; IMPDH1
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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="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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<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 role="separator" class="divider"></li>
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<a href="/history"> Search History </a>
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</ul>
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</form>
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<p />
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<div id="mimAlertBanner">
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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">*146690</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>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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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="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/146690">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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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">
|
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000106348;t=ENST00000338791" 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=3614" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=146690" 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=ENSG00000106348;t=ENST00000338791" 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_000883,NM_001102605,NM_001142573,NM_001142574,NM_001142575,NM_001142576,NM_001304521,NM_183243,XM_017012173,XM_024446755,XM_024446756,XM_024446757,XM_024446758,XM_047420333,XM_047420334" 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_000883" 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=146690" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
|
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
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</a>
|
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</span>
|
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=08853&isoform_id=08853_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/IMPDH1" 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/307067,16549223,25014074,34328928,34328930,47077068,51095067,51095068,54673520,57999523,119604055,119604056,119604057,119604058,119604059,156616279,193784687,193786126,193787349,194373649,194388582,217035146,217035148,217035150,217035152,751557634,1034655502,1370510131,1370510133,1370510135,1370510137,2217367015,2217367017,2462614241,2462614243,2462614245,2462614247,2462614249,2462614251,2462614253,2462614255,2462614257,2462614259" 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/P20839" 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=3614" 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=ENSG00000106348;t=ENST00000338791" 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=IMPDH1" 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=IMPDH1" 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+3614" 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/IMPDH1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:3614" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3614" 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=chr7&hgg_gene=ENST00000338791.11&hgg_start=128392277&hgg_end=128409982&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:6052" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=146690[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=146690[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/ENSG00000106348" 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=IMPDH1" 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=IMPDH1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=IMPDH1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/IMPDH1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Eye diseases - LOVD</a></div><div style="margin-left: 0.5em;"><a href="http://www.retina-international.org/files/sci-news/impdhmut.htm" title="Mutations of the Inosine Monophosphate DehydrogenaseType 1 Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Mutations of the Inosine M…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=IMPDH1&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/PA29862" 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:6052" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0003204.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:96567" 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/IMPDH1#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:96567" 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/3614/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=3614" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00020682;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030219-206" 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:3614" 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=IMPDH1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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146690
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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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IMP DEHYDROGENASE 1; IMPDH1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1<br />
|
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IMPD
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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IMP DEHYDROGENASE-LIKE 1, INCLUDED; IMPDHL1, INCLUDED
|
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=IMPDH1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">IMPDH1</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/7/651?start=-3&limit=10&highlight=651">7q32.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:128392277-128409982&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'})">7:128,392,277-128,409,982</a> </span>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/146690" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/146690" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>Inosine-5-prime-monophosphate dehydrogenase (<a href="https://enzyme.expasy.org/EC/1.1.1.205" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 1.1.1.205</a>) catalyzes the formation of xanthine monophosphate (XMP) from IMP. In the purine de novo synthetic pathway, IMP dehydrogenase is positioned at the branch point in the synthesis of adenine and guanine nucleotides and is thus the rate-limiting enzyme in the de novo synthesis of guanine nucleotides. Inhibition of cellular IMP dehydrogenase activity results in an abrupt cessation of DNA synthesis and a cell cycle block at the G1-S interface (summary by <a href="#5" class="mim-tip-reference" title="Collart, F. R., Huberman, E. <strong>Cloning and sequence analysis of the human and Chinese hamster inosine-5-prime-monophosphate dehydrogenase cDNAs.</strong> J. Biol. Chem. 263: 15769-15772, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2902093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2902093</a>]" pmid="2902093">Collart and Huberman, 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2902093" 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="Collart, F. R., Huberman, E. <strong>Cloning and sequence analysis of the human and Chinese hamster inosine-5-prime-monophosphate dehydrogenase cDNAs.</strong> J. Biol. Chem. 263: 15769-15772, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2902093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2902093</a>]" pmid="2902093">Collart and Huberman (1988)</a> used a polyclonal antibody directed against the purified protein to isolate human and Chinese hamster IMP dehydrogenase cDNA clones. The sequence of these clones demonstrated an open reading frame for a protein containing 514 amino acids. The molecular mass of the produced protein was 56 kD, which is the observed molecular mass of the purified protein and of the immunoprecipitated in vitro translation product. A high order of conservation of the IMP dehydrogenase protein was indicated by the finding that human and Chinese hamster cDNA clones differed by only 8 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2902093" 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="#10" class="mim-tip-reference" title="Natsumeda, Y., Ohno, S., Kawasaki, H., Konno, Y., Weber, G., Suzuki, K. <strong>Two distinct cDNAs for human IMP dehydrogenase.</strong> J. Biol. Chem. 265: 5292-5295, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1969416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1969416</a>]" pmid="1969416">Natsumeda et al. (1990)</a> isolated 2 distinct cDNAs (types I and II) encoding IMP dehydrogenase from a human spleen cDNA library. Both clones encode proteins of 514 residues showing 84% sequence identity. Type I mRNA was found to be the main species in normal leukocytes, and type II (<a href="/entry/146691">146691</a>) predominated in human ovarian tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1969416" 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 polymerase chain reaction analysis of a panel of human/mouse and human/hamster cell somatic hybrids using primers specific for the IMPDH1 gene and by fluorescence in situ hybridization with metaphase chromosomes using IMPDH1 genomic DNA as probes, <a href="#8" class="mim-tip-reference" title="Gu, J. J., Kaiser-Rogers, K., Rao, K., Mitchell, B. S. <strong>Assignment of the human type I IMP dehydrogenase gene (IMPDH1) to chromosome 7q31.3-q32.</strong> Genomics 24: 179-181, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7896275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7896275</a>] [<a href="https://doi.org/10.1006/geno.1994.1597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7896275">Gu et al. (1994)</a> established that the IMPDH1 gene is located on 7q31.3-q32. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7896275" 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><strong><em>Pseudogene</em></strong></p><p>
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<a href="#7" class="mim-tip-reference" title="Doggett, N. A., Callen, D. F., Chen, Z. L., Moore, S., Tesmer, J. G., Duesing, L. A., Stallings, R. L. <strong>Identification and regional localization of a human IMP dehydrogenase-like locus (IMPDHL1) at 16p13.13.</strong> Genomics 18: 687-689, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7905856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7905856</a>] [<a href="https://doi.org/10.1016/s0888-7543(05)80374-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7905856">Doggett et al. (1993)</a> described a randomly generated STS from human chromosome 16 genomic DNA that had 90% sequence identity to IMPDH1 and 72% identity to IMPDH2. By PCR analysis of a panel of somatic cell hybrids containing different portions of human chromosome 16, they mapped the IMPDH-like sequence to 16p13.3-p13.12. This regional mapping assignment was further refined to subband 16p13.13 by high-resolution FISH. The presence of an intron and frameshift mutations in IMPDHL1 suggested that the locus may be an unprocessed pseudogene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7905856" 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>Autosomal dominant retinitis pigmentosa (adRP) is a heterogeneous set of progressive retinopathies caused by several distinct genes. One locus, RP10 (<a href="/entry/180105">180105</a>), maps to human chromosome 7q31.1 and may account for 5 to 10% of adRP cases among Americans and Europeans. By linkage mapping, <a href="#3" class="mim-tip-reference" title="Bowne, S. J., Sullivan, L. S., Blanton, S. H., Cepko, C. L., Blackshaw, S., Birch, D. G., Hughbanks-Wheaton, D., Heckenlively, J. R., Daiger, S. P. <strong>Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.</strong> Hum. Molec. Genet. 11: 559-568, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11875050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11875050</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11875050[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/10.1093/hmg/11.5.559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11875050">Bowne et al. (2002)</a> identified 2 American families with the RP10 form of adRP and used these families to reduce the linkage interval to 3.45 Mb between the flanking markers D7S686 and RP-STR8. Ten retinal transcripts were identified among 54 independent genes within the candidate region, including IMPDH1. DNA sequencing of affected individuals from 3 RP10 families revealed an asp226-to-asn substitution (D226N; <a href="#0001">146690.0001</a>). Asp226 is highly evolutionarily conserved among IMPDH genes, suggesting that this mutation may be highly deleterious. Another IMPDH1 substitution, val268 to ile (V268I; <a href="#0002">146690.0002</a>), was observed in one of a cohort of 60 adRP families but not in controls. IMPDH1 is a ubiquitously expressed enzyme, functioning as a homotetramer, which catalyzes the rate-limiting step in de novo synthesis of guanine nucleotides. As such, it may play an important role in cyclic nucleotide metabolism within photoreceptors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11875050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Kennan, A., Aherne, A., Palfi, A., Humphries, M., McKee, A., Stitt, A., Simpson, D. A. C., Demtroder, K., Orntoft, T., Ayuso, C., Kenna, P. F., Farrar, G. J., Humphries, P. <strong>Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho-/- mice.</strong> Hum. Molec. Genet. 11: 547-558, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11875049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11875049</a>] [<a href="https://doi.org/10.1093/hmg/11.5.547" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11875049">Kennan et al. (2002)</a> used microarray analysis to compare retinal transcript levels between wildtype mice and those with a targeted disruption of the rhodopsin gene (<a href="/entry/180380">180380</a>), designated Rho -/-. The IMPDH1 gene was identified among a series of transcripts present at reduced levels. Mutation screening of DNA from a Spanish adRP family revealed an arg224-to-pro substitution (R224P; <a href="#0003">146690.0003</a>) cosegregating with the disease phenotype. Arg224 of the IMPDH1 protein is conserved among species, and the substitution was not present in a European control cohort, providing additional evidence that the mutation is responsible for the disease phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11875049" 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="Bowne, S. J., Sullivan, L. S., Mortimer, S. E., Hedstrom, L., Zhu, J., Spellicy, C. J., Gire, A. I., Hughbanks-Wheaton, D., Birch, D. G., Lewis, R. A., Heckenlively, J. R., Daiger, S. P. <strong>Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis.</strong> Invest. Ophthal. Vis. Sci. 47: 34-42, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16384941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16384941</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16384941[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/10.1167/iovs.05-0868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16384941">Bowne et al. (2006)</a> searched for mutations in the IMPDH1 gene in 265 patients with retinitis pigmentosa, 17 patients with macular degeneration, and 24 patients with Leber congenital amaurosis (see LCA11, <a href="/entry/613837">613837</a>). They identified 5 variants in 8 families with autosomal dominant RP. They also identified heterozygous variants in 2 patients with isolated LCA11 (R105W, <a href="#0004">146690.0004</a>; N198K, <a href="#0005">146690.0005</a>). None of the identified variants altered the enzymatic activity of the corresponding proteins; in all apparently pathogenic mutations, the affinity and/or the specificity of single-stranded nucleic acid binding was altered. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16384941" 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="#1" class="mim-tip-reference" title="Aherne, A., Kennan, A., Kenna, P. F., McNally, N., Lloyd, D. G., Alberts, I. L., Kiang, A.-S,, Humphries, M. M., Ayuso, C., Engel, P. C., Gu, J. J., Mitchell, B. S., Farrar, G. J., Humphries, P. <strong>On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.</strong> Hum. Molec. Genet. 13: 641-650, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14981049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14981049</a>] [<a href="https://doi.org/10.1093/hmg/ddh061" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14981049">Aherne et al. (2004)</a> determined that the bulk of GTP within photoreceptors of mice was generated by IMPDH1. Impdh1 -/- null mice displayed a slowly progressive form of retinal degeneration in which visual transduction, analyzed by electroretinographic wave functions, became gradually compromised, although at 12 months of age most photoreceptors remained structurally intact. <a href="#1" class="mim-tip-reference" title="Aherne, A., Kennan, A., Kenna, P. F., McNally, N., Lloyd, D. G., Alberts, I. L., Kiang, A.-S,, Humphries, M. M., Ayuso, C., Engel, P. C., Gu, J. J., Mitchell, B. S., Farrar, G. J., Humphries, P. <strong>On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.</strong> Hum. Molec. Genet. 13: 641-650, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14981049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14981049</a>] [<a href="https://doi.org/10.1093/hmg/ddh061" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14981049">Aherne et al. (2004)</a> noted that, in contrast, the human form of RP caused by mutations in the IMPDH1 gene is a severe autosomal dominant degenerative retinopathy. Expression of mutant IMPDH1 proteins in bacterial and mammalian cells, together with computational simulations, indicated that protein misfolding and aggregation, rather than reduced IMPDH1 enzyme activity, was the likely cause of the severe phenotype in the human form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14981049" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a murine model of autosomal dominant RP (RP10; <a href="/entry/180105">180105</a>) involving expression of an arg224-to-pro mutation within the IMPDH1 gene, <a href="#11" class="mim-tip-reference" title="Tam, L. C. S., Kiang, A.-S., Campbell, M., Keaney, J., Farrar, G. J., Humphries, M. M., Kenna, P. F., Humphries, P. <strong>Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90).</strong> Hum. Molec. Genet. 19: 4421-4436, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20817636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20817636</a>] [<a href="https://doi.org/10.1093/hmg/ddq369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20817636">Tam et al. (2010)</a> showed that treatment with 17-allylamino-17-demethoxygeldanamycin (17-AAG), an ansamycin antibiotic that binds to heat-shock protein Hsp90 (HSP90AA1; <a href="/entry/140571">140571</a>), activated a heat-shock response in mammalian cells. The treatment protected photoreceptors against degeneration induced by aggregating mutant IMPDH1 protein. Systemic delivery of the drug to the retina was facilitated by claudin-5 (CLDN5; <a href="/entry/602101">602101</a>) siRNA-mediated modulation of the inner-blood retina barrier. The authors proposed that a single low molecular weight drug has the potential to suppress aggregation of a wide range of mutant proteins causing RP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20817636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=146690[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>Among 3 families with autosomal dominant retinitis pigmentosa linked to 7q (RP10; <a href="/entry/180105">180105</a>), <a href="#3" class="mim-tip-reference" title="Bowne, S. J., Sullivan, L. S., Blanton, S. H., Cepko, C. L., Blackshaw, S., Birch, D. G., Hughbanks-Wheaton, D., Heckenlively, J. R., Daiger, S. P. <strong>Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.</strong> Hum. Molec. Genet. 11: 559-568, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11875050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11875050</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11875050[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/10.1093/hmg/11.5.559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11875050">Bowne et al. (2002)</a> identified a G-to-A transition at codon 226 of the IMPDH1 gene, substituting an asparagine for an aspartic acid (D226N). Asp226 is highly evolutionarily conserved among IMPDH genes, suggesting that this mutation may be highly deleterious. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11875050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Wada, Y., Sandberg, M. A., McGee, T. L., Stillberger, M. A., Berson, E. L., Dryja, T. P. <strong>Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.</strong> Invest. Ophthal. Vis. Sci. 46: 1735-1741, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15851576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15851576</a>] [<a href="https://doi.org/10.1167/iovs.04-1197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15851576">Wada et al. (2005)</a> identified the D226N mutation in 6 of 183 unrelated patients with autosomal dominant RP. Taking into account the 135 patients excluded from the study because of previously identified mutations in other dominant RP genes, <a href="#12" class="mim-tip-reference" title="Wada, Y., Sandberg, M. A., McGee, T. L., Stillberger, M. A., Berson, E. L., Dryja, T. P. <strong>Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.</strong> Invest. Ophthal. Vis. Sci. 46: 1735-1741, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15851576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15851576</a>] [<a href="https://doi.org/10.1167/iovs.04-1197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15851576">Wada et al. (2005)</a> estimated that IMPDH1 mutations account for approximately 2% of cases of dominant RP in North America. Based on a comparison of electroretinogram (ERG) amplitudes among carriers of the IMPDH1 D226N mutation, the RP1 mutation R677X (<a href="/entry/603937#0001">603937.0001</a>), the rhodopsin mutation P23H (<a href="/entry/180380#0001">180380.0001</a>), and the rhodopsin mutation P347L (<a href="/entry/180380#0002">180380.0002</a>), <a href="#12" class="mim-tip-reference" title="Wada, Y., Sandberg, M. A., McGee, T. L., Stillberger, M. A., Berson, E. L., Dryja, T. P. <strong>Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.</strong> Invest. Ophthal. Vis. Sci. 46: 1735-1741, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15851576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15851576</a>] [<a href="https://doi.org/10.1167/iovs.04-1197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15851576">Wada et al. (2005)</a> concluded that D226N, the most frequent mutation, appeared to cause at least as much loss of rod function as cone function, and that patients with this form of RP retained, on average, 2 to 5 times more ERG amplitude per unit of remaining visual area than patients with the 3 other forms of dominant RP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15851576" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bischof, J. M., Chiang, A. P., Scheetz, T. E., Stone, E. M., Casavant, T. L., Sheffield, V. C., Braun, T. A. <strong>Genome-wide identification of pseudogenes capable of disease-causing gene conversion.</strong> Hum. Mutat. 27: 545-552, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16671097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16671097</a>] [<a href="https://doi.org/10.1002/humu.20335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16671097">Bischof et al. (2006)</a> identified a processed pseudogene for IMPDH1 carrying the 676G-A transition that produces the D226N substitution. The authors suggested that this case may represent a novel gene conversion event involving a processed pseudogene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16671097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a family with autosomal dominant retinitis pigmentosa linked to 7q (RP10; <a href="/entry/180105">180105</a>), <a href="#3" class="mim-tip-reference" title="Bowne, S. J., Sullivan, L. S., Blanton, S. H., Cepko, C. L., Blackshaw, S., Birch, D. G., Hughbanks-Wheaton, D., Heckenlively, J. R., Daiger, S. P. <strong>Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.</strong> Hum. Molec. Genet. 11: 559-568, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11875050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11875050</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11875050[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/10.1093/hmg/11.5.559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11875050">Bowne et al. (2002)</a> identified a G-to-A transition at codon 268 of the IMPDH1 gene, substituting an isoleucine for valine (V268I). The mutation was absent among a European control cohort. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11875050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015961 OR RCV003887872" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015961, RCV003887872" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015961...</a>
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<p>In a Spanish family with autosomal dominant retinitis pigmentosa linked to 7q (RP10; <a href="/entry/180105">180105</a>), <a href="#9" class="mim-tip-reference" title="Kennan, A., Aherne, A., Palfi, A., Humphries, M., McKee, A., Stitt, A., Simpson, D. A. C., Demtroder, K., Orntoft, T., Ayuso, C., Kenna, P. F., Farrar, G. J., Humphries, P. <strong>Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho-/- mice.</strong> Hum. Molec. Genet. 11: 547-558, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11875049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11875049</a>] [<a href="https://doi.org/10.1093/hmg/11.5.547" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11875049">Kennan et al. (2002)</a> identified a G-to-C transition in codon 224 of the IMPDH1 gene, substituting proline for arginine. Arg224 is highly evolutionarily conserved among IMPDH genes, suggesting that this mutation may be highly deleterious. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11875049" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 LEBER CONGENITAL AMAUROSIS 11</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912553 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912553;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121912553?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015962 OR RCV000951177 OR RCV003887873" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015962, RCV000951177, RCV003887873" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015962...</a>
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<p>In a patient (family UTAD463) with isolated Leber congenital amaurosis-11 (<a href="/entry/613837">613837</a>), <a href="#4" class="mim-tip-reference" title="Bowne, S. J., Sullivan, L. S., Mortimer, S. E., Hedstrom, L., Zhu, J., Spellicy, C. J., Gire, A. I., Hughbanks-Wheaton, D., Birch, D. G., Lewis, R. A., Heckenlively, J. R., Daiger, S. P. <strong>Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis.</strong> Invest. Ophthal. Vis. Sci. 47: 34-42, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16384941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16384941</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16384941[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/10.1167/iovs.05-0868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16384941">Bowne et al. (2006)</a> identified heterozygosity for a 313C-T transition in the IMPDH1 gene, resulting in an arg105-to-trp (R105W) substitution. The mutation is located at the junction of the CBS subdomain and alters the nucleic acid binding properties of IMPDH1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16384941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 LEBER CONGENITAL AMAUROSIS 11</strong>
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IMPDH1, ASN198LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912554 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912554;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121912554?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015963" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015963" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015963</a>
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<p>In a patient (family UTAD391) with isolated Leber congenital amaurosis-11 (LCA11; <a href="/entry/613837">613837</a>), <a href="#4" class="mim-tip-reference" title="Bowne, S. J., Sullivan, L. S., Mortimer, S. E., Hedstrom, L., Zhu, J., Spellicy, C. J., Gire, A. I., Hughbanks-Wheaton, D., Birch, D. G., Lewis, R. A., Heckenlively, J. R., Daiger, S. P. <strong>Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis.</strong> Invest. Ophthal. Vis. Sci. 47: 34-42, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16384941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16384941</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16384941[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/10.1167/iovs.05-0868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16384941">Bowne et al. (2006)</a> identified heterozygosity for a 594T-G transversion in the IMPDH1 gene, resulting in an asn198-to-lys (N198K) substitution. The mutation is located at the junction of the CBS subdomain and alters the nucleic acid binding properties of IMPDH1. The mutation was not found in the unaffected parents or in an unaffected sister. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16384941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 RETINITIS PIGMENTOSA 10</strong>
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IMPDH1, GLN318HIS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs886037911 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886037911;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs886037911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs886037911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000240659" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000240659" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000240659</a>
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<p>In a French Canadian man with retinitis pigmentosa-10 (RP10; <a href="/entry/180105">180105</a>), <a href="#6" class="mim-tip-reference" title="Coussa, R. G., Chakarova, C., Ajlan, R., Taha, M., Kavalec, C., Gomolin, J., Khan, A., Lopez, I., Ren, H., Waseem, N., Kamenarova, K., Bhattacharya, S. S., Koenekoop, R. K. <strong>Genotype and phenotype studies in autosomal dominant retinitis pigmentosa (adRP) of the French Canadian founder population.</strong> Invest. Ophthal. Vis. Sci. 56: 8297-8305, 2015. Note: Erratum: Invest. Ophthal. Vis. Sci. 58: 4768 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26720483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26720483</a>] [<a href="https://doi.org/10.1167/iovs.15-17104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26720483">Coussa et al. (2015)</a> identified heterozygosity for a c.954G-C transversion in the IMPDH1 gene, resulting in a gln318-to-his (Q318H) substitution. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26720483" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Aherne2004" class="mim-anchor"></a>
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Aherne, A., Kennan, A., Kenna, P. F., McNally, N., Lloyd, D. G., Alberts, I. L., Kiang, A.-S,, Humphries, M. M., Ayuso, C., Engel, P. C., Gu, J. J., Mitchell, B. S., Farrar, G. J., Humphries, P.
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<strong>On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.</strong>
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Hum. Molec. Genet. 13: 641-650, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14981049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14981049</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14981049" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddh061" target="_blank">Full Text</a>]
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Bischof, J. M., Chiang, A. P., Scheetz, T. E., Stone, E. M., Casavant, T. L., Sheffield, V. C., Braun, T. A.
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<strong>Genome-wide identification of pseudogenes capable of disease-causing gene conversion.</strong>
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Hum. Mutat. 27: 545-552, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16671097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16671097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16671097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20335" target="_blank">Full Text</a>]
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<a id="Bowne2002" class="mim-anchor"></a>
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Bowne, S. J., Sullivan, L. S., Blanton, S. H., Cepko, C. L., Blackshaw, S., Birch, D. G., Hughbanks-Wheaton, D., Heckenlively, J. R., Daiger, S. P.
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<strong>Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.</strong>
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Hum. Molec. Genet. 11: 559-568, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11875050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11875050</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11875050[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=11875050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/11.5.559" target="_blank">Full Text</a>]
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Bowne, S. J., Sullivan, L. S., Mortimer, S. E., Hedstrom, L., Zhu, J., Spellicy, C. J., Gire, A. I., Hughbanks-Wheaton, D., Birch, D. G., Lewis, R. A., Heckenlively, J. R., Daiger, S. P.
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<strong>Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis.</strong>
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Invest. Ophthal. Vis. Sci. 47: 34-42, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16384941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16384941</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16384941[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=16384941" 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/10.1167/iovs.05-0868" target="_blank">Full Text</a>]
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Collart, F. R., Huberman, E.
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<strong>Cloning and sequence analysis of the human and Chinese hamster inosine-5-prime-monophosphate dehydrogenase cDNAs.</strong>
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J. Biol. Chem. 263: 15769-15772, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2902093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2902093</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2902093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Coussa2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Coussa, R. G., Chakarova, C., Ajlan, R., Taha, M., Kavalec, C., Gomolin, J., Khan, A., Lopez, I., Ren, H., Waseem, N., Kamenarova, K., Bhattacharya, S. S., Koenekoop, R. K.
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<strong>Genotype and phenotype studies in autosomal dominant retinitis pigmentosa (adRP) of the French Canadian founder population.</strong>
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Invest. Ophthal. Vis. Sci. 56: 8297-8305, 2015. Note: Erratum: Invest. Ophthal. Vis. Sci. 58: 4768 only, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26720483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26720483</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26720483" 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/10.1167/iovs.15-17104" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Doggett1993" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Doggett, N. A., Callen, D. F., Chen, Z. L., Moore, S., Tesmer, J. G., Duesing, L. A., Stallings, R. L.
|
|
<strong>Identification and regional localization of a human IMP dehydrogenase-like locus (IMPDHL1) at 16p13.13.</strong>
|
|
Genomics 18: 687-689, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7905856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7905856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7905856" 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/s0888-7543(05)80374-x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Gu1994" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Gu, J. J., Kaiser-Rogers, K., Rao, K., Mitchell, B. S.
|
|
<strong>Assignment of the human type I IMP dehydrogenase gene (IMPDH1) to chromosome 7q31.3-q32.</strong>
|
|
Genomics 24: 179-181, 1994.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7896275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7896275</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7896275" 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/10.1006/geno.1994.1597" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Kennan2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kennan, A., Aherne, A., Palfi, A., Humphries, M., McKee, A., Stitt, A., Simpson, D. A. C., Demtroder, K., Orntoft, T., Ayuso, C., Kenna, P. F., Farrar, G. J., Humphries, P.
|
|
<strong>Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho-/- mice.</strong>
|
|
Hum. Molec. Genet. 11: 547-558, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11875049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11875049</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11875049" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/11.5.547" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Natsumeda1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Natsumeda, Y., Ohno, S., Kawasaki, H., Konno, Y., Weber, G., Suzuki, K.
|
|
<strong>Two distinct cDNAs for human IMP dehydrogenase.</strong>
|
|
J. Biol. Chem. 265: 5292-5295, 1990.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1969416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1969416</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1969416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Tam2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tam, L. C. S., Kiang, A.-S., Campbell, M., Keaney, J., Farrar, G. J., Humphries, M. M., Kenna, P. F., Humphries, P.
|
|
<strong>Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90).</strong>
|
|
Hum. Molec. Genet. 19: 4421-4436, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20817636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20817636</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20817636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddq369" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Wada2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wada, Y., Sandberg, M. A., McGee, T. L., Stillberger, M. A., Berson, E. L., Dryja, T. P.
|
|
<strong>Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.</strong>
|
|
Invest. Ophthal. Vis. Sci. 46: 1735-1741, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15851576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15851576</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15851576" 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/10.1167/iovs.04-1197" 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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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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George E. Tiller - updated : 09/13/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Jane Kelly - updated : 09/07/2016<br>George E. Tiller - updated : 11/29/2006<br>Jane Kelly - updated : 9/11/2006<br>Victor A. McKusick - updated : 7/12/2006<br>Jane Kelly - updated : 11/16/2005<br>George E. Tiller - updated : 10/4/2002<br>George E. Tiller - updated : 10/3/2002
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</span>
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</div>
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</div>
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</div>
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<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 : 11/30/1988
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/20/2018
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/31/2018<br>alopez : 09/13/2017<br>carol : 09/07/2016<br>joanna : 08/04/2016<br>carol : 03/25/2011<br>joanna : 7/27/2010<br>alopez : 3/19/2010<br>carol : 4/3/2009<br>carol : 11/29/2006<br>carol : 9/11/2006<br>alopez : 7/19/2006<br>terry : 7/12/2006<br>alopez : 11/16/2005<br>cwells : 10/4/2002<br>cwells : 10/3/2002<br>terry : 11/15/2001<br>carol : 9/22/1999<br>terry : 12/5/1994<br>supermim : 3/16/1992<br>carol : 6/8/1990<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>root : 11/30/1988
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
|
<strong>*</strong> 146690
|
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</span>
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</h3>
|
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</div>
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<div>
|
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<h3>
|
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<span class="mim-font">
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|
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IMP DEHYDROGENASE 1; IMPDH1
|
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</span>
|
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</h3>
|
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1<br />
|
|
IMPD
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
IMP DEHYDROGENASE-LIKE 1, INCLUDED; IMPDHL1, INCLUDED
|
|
</span>
|
|
</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: IMPDH1</em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
|
<em>
|
|
Cytogenetic location: 7q32.1
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 7:128,392,277-128,409,982 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
7q32.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Leber congenital amaurosis 11
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
613837
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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|
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|
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</tr>
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|
|
|
|
|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Retinitis pigmentosa 10
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
180105
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
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|
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|
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
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<p>Inosine-5-prime-monophosphate dehydrogenase (EC 1.1.1.205) catalyzes the formation of xanthine monophosphate (XMP) from IMP. In the purine de novo synthetic pathway, IMP dehydrogenase is positioned at the branch point in the synthesis of adenine and guanine nucleotides and is thus the rate-limiting enzyme in the de novo synthesis of guanine nucleotides. Inhibition of cellular IMP dehydrogenase activity results in an abrupt cessation of DNA synthesis and a cell cycle block at the G1-S interface (summary by Collart and Huberman, 1988). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Collart and Huberman (1988) used a polyclonal antibody directed against the purified protein to isolate human and Chinese hamster IMP dehydrogenase cDNA clones. The sequence of these clones demonstrated an open reading frame for a protein containing 514 amino acids. The molecular mass of the produced protein was 56 kD, which is the observed molecular mass of the purified protein and of the immunoprecipitated in vitro translation product. A high order of conservation of the IMP dehydrogenase protein was indicated by the finding that human and Chinese hamster cDNA clones differed by only 8 amino acids. </p><p>Natsumeda et al. (1990) isolated 2 distinct cDNAs (types I and II) encoding IMP dehydrogenase from a human spleen cDNA library. Both clones encode proteins of 514 residues showing 84% sequence identity. Type I mRNA was found to be the main species in normal leukocytes, and type II (146691) predominated in human ovarian tumors. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By polymerase chain reaction analysis of a panel of human/mouse and human/hamster cell somatic hybrids using primers specific for the IMPDH1 gene and by fluorescence in situ hybridization with metaphase chromosomes using IMPDH1 genomic DNA as probes, Gu et al. (1994) established that the IMPDH1 gene is located on 7q31.3-q32. </p><p><strong><em>Pseudogene</em></strong></p><p>
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Doggett et al. (1993) described a randomly generated STS from human chromosome 16 genomic DNA that had 90% sequence identity to IMPDH1 and 72% identity to IMPDH2. By PCR analysis of a panel of somatic cell hybrids containing different portions of human chromosome 16, they mapped the IMPDH-like sequence to 16p13.3-p13.12. This regional mapping assignment was further refined to subband 16p13.13 by high-resolution FISH. The presence of an intron and frameshift mutations in IMPDHL1 suggested that the locus may be an unprocessed pseudogene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Autosomal dominant retinitis pigmentosa (adRP) is a heterogeneous set of progressive retinopathies caused by several distinct genes. One locus, RP10 (180105), maps to human chromosome 7q31.1 and may account for 5 to 10% of adRP cases among Americans and Europeans. By linkage mapping, Bowne et al. (2002) identified 2 American families with the RP10 form of adRP and used these families to reduce the linkage interval to 3.45 Mb between the flanking markers D7S686 and RP-STR8. Ten retinal transcripts were identified among 54 independent genes within the candidate region, including IMPDH1. DNA sequencing of affected individuals from 3 RP10 families revealed an asp226-to-asn substitution (D226N; 146690.0001). Asp226 is highly evolutionarily conserved among IMPDH genes, suggesting that this mutation may be highly deleterious. Another IMPDH1 substitution, val268 to ile (V268I; 146690.0002), was observed in one of a cohort of 60 adRP families but not in controls. IMPDH1 is a ubiquitously expressed enzyme, functioning as a homotetramer, which catalyzes the rate-limiting step in de novo synthesis of guanine nucleotides. As such, it may play an important role in cyclic nucleotide metabolism within photoreceptors. </p><p>Kennan et al. (2002) used microarray analysis to compare retinal transcript levels between wildtype mice and those with a targeted disruption of the rhodopsin gene (180380), designated Rho -/-. The IMPDH1 gene was identified among a series of transcripts present at reduced levels. Mutation screening of DNA from a Spanish adRP family revealed an arg224-to-pro substitution (R224P; 146690.0003) cosegregating with the disease phenotype. Arg224 of the IMPDH1 protein is conserved among species, and the substitution was not present in a European control cohort, providing additional evidence that the mutation is responsible for the disease phenotype. </p><p>Bowne et al. (2006) searched for mutations in the IMPDH1 gene in 265 patients with retinitis pigmentosa, 17 patients with macular degeneration, and 24 patients with Leber congenital amaurosis (see LCA11, 613837). They identified 5 variants in 8 families with autosomal dominant RP. They also identified heterozygous variants in 2 patients with isolated LCA11 (R105W, 146690.0004; N198K, 146690.0005). None of the identified variants altered the enzymatic activity of the corresponding proteins; in all apparently pathogenic mutations, the affinity and/or the specificity of single-stranded nucleic acid binding was altered. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Aherne et al. (2004) determined that the bulk of GTP within photoreceptors of mice was generated by IMPDH1. Impdh1 -/- null mice displayed a slowly progressive form of retinal degeneration in which visual transduction, analyzed by electroretinographic wave functions, became gradually compromised, although at 12 months of age most photoreceptors remained structurally intact. Aherne et al. (2004) noted that, in contrast, the human form of RP caused by mutations in the IMPDH1 gene is a severe autosomal dominant degenerative retinopathy. Expression of mutant IMPDH1 proteins in bacterial and mammalian cells, together with computational simulations, indicated that protein misfolding and aggregation, rather than reduced IMPDH1 enzyme activity, was the likely cause of the severe phenotype in the human form. </p><p>In a murine model of autosomal dominant RP (RP10; 180105) involving expression of an arg224-to-pro mutation within the IMPDH1 gene, Tam et al. (2010) showed that treatment with 17-allylamino-17-demethoxygeldanamycin (17-AAG), an ansamycin antibiotic that binds to heat-shock protein Hsp90 (HSP90AA1; 140571), activated a heat-shock response in mammalian cells. The treatment protected photoreceptors against degeneration induced by aggregating mutant IMPDH1 protein. Systemic delivery of the drug to the retina was facilitated by claudin-5 (CLDN5; 602101) siRNA-mediated modulation of the inner-blood retina barrier. The authors proposed that a single low molecular weight drug has the potential to suppress aggregation of a wide range of mutant proteins causing RP. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 RETINITIS PIGMENTOSA 10</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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IMPDH1, ASP226ASN
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<br />
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SNP: rs121912550,
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gnomAD: rs121912550,
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ClinVar: RCV000015959, RCV000255540, RCV003887871
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Among 3 families with autosomal dominant retinitis pigmentosa linked to 7q (RP10; 180105), Bowne et al. (2002) identified a G-to-A transition at codon 226 of the IMPDH1 gene, substituting an asparagine for an aspartic acid (D226N). Asp226 is highly evolutionarily conserved among IMPDH genes, suggesting that this mutation may be highly deleterious. </p><p>Wada et al. (2005) identified the D226N mutation in 6 of 183 unrelated patients with autosomal dominant RP. Taking into account the 135 patients excluded from the study because of previously identified mutations in other dominant RP genes, Wada et al. (2005) estimated that IMPDH1 mutations account for approximately 2% of cases of dominant RP in North America. Based on a comparison of electroretinogram (ERG) amplitudes among carriers of the IMPDH1 D226N mutation, the RP1 mutation R677X (603937.0001), the rhodopsin mutation P23H (180380.0001), and the rhodopsin mutation P347L (180380.0002), Wada et al. (2005) concluded that D226N, the most frequent mutation, appeared to cause at least as much loss of rod function as cone function, and that patients with this form of RP retained, on average, 2 to 5 times more ERG amplitude per unit of remaining visual area than patients with the 3 other forms of dominant RP. </p><p>Bischof et al. (2006) identified a processed pseudogene for IMPDH1 carrying the 676G-A transition that produces the D226N substitution. The authors suggested that this case may represent a novel gene conversion event involving a processed pseudogene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 RETINITIS PIGMENTOSA 10</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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|
IMPDH1, VAL268ILE
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<br />
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SNP: rs121912551,
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gnomAD: rs121912551,
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|
|
ClinVar: RCV000015960, RCV002513068
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|
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a family with autosomal dominant retinitis pigmentosa linked to 7q (RP10; 180105), Bowne et al. (2002) identified a G-to-A transition at codon 268 of the IMPDH1 gene, substituting an isoleucine for valine (V268I). The mutation was absent among a European control cohort. </p>
|
|
</span>
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</div>
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|
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 RETINITIS PIGMENTOSA 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
IMPDH1, ARG224PRO
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<br />
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|
|
SNP: rs121912552,
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|
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|
|
ClinVar: RCV000015961, RCV003887872
|
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|
</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a Spanish family with autosomal dominant retinitis pigmentosa linked to 7q (RP10; 180105), Kennan et al. (2002) identified a G-to-C transition in codon 224 of the IMPDH1 gene, substituting proline for arginine. Arg224 is highly evolutionarily conserved among IMPDH genes, suggesting that this mutation may be highly deleterious. </p>
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|
</span>
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</div>
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<div>
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|
<br />
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|
</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 LEBER CONGENITAL AMAUROSIS 11</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
IMPDH1, ARG105TRP
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|
|
<br />
|
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|
|
SNP: rs121912553,
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|
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|
|
|
gnomAD: rs121912553,
|
|
|
|
|
|
ClinVar: RCV000015962, RCV000951177, RCV003887873
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (family UTAD463) with isolated Leber congenital amaurosis-11 (613837), Bowne et al. (2006) identified heterozygosity for a 313C-T transition in the IMPDH1 gene, resulting in an arg105-to-trp (R105W) substitution. The mutation is located at the junction of the CBS subdomain and alters the nucleic acid binding properties of IMPDH1. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 LEBER CONGENITAL AMAUROSIS 11</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
IMPDH1, ASN198LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912554,
|
|
|
|
|
|
gnomAD: rs121912554,
|
|
|
|
|
|
ClinVar: RCV000015963
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (family UTAD391) with isolated Leber congenital amaurosis-11 (LCA11; 613837), Bowne et al. (2006) identified heterozygosity for a 594T-G transversion in the IMPDH1 gene, resulting in an asn198-to-lys (N198K) substitution. The mutation is located at the junction of the CBS subdomain and alters the nucleic acid binding properties of IMPDH1. The mutation was not found in the unaffected parents or in an unaffected sister. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
|
<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 RETINITIS PIGMENTOSA 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
IMPDH1, GLN318HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs886037911,
|
|
|
|
|
|
|
|
ClinVar: RCV000240659
|
|
|
|
|
|
</span>
|
|
</div>
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French Canadian man with retinitis pigmentosa-10 (RP10; 180105), Coussa et al. (2015) identified heterozygosity for a c.954G-C transversion in the IMPDH1 gene, resulting in a gln318-to-his (Q318H) substitution. Functional studies of the variant were not performed. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
|
<ol>
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<li>
|
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<p class="mim-text-font">
|
|
Aherne, A., Kennan, A., Kenna, P. F., McNally, N., Lloyd, D. G., Alberts, I. L., Kiang, A.-S,, Humphries, M. M., Ayuso, C., Engel, P. C., Gu, J. J., Mitchell, B. S., Farrar, G. J., Humphries, P.
|
|
<strong>On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.</strong>
|
|
Hum. Molec. Genet. 13: 641-650, 2004.
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[PubMed: 14981049]
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[Full Text: https://doi.org/10.1093/hmg/ddh061]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bischof, J. M., Chiang, A. P., Scheetz, T. E., Stone, E. M., Casavant, T. L., Sheffield, V. C., Braun, T. A.
|
|
<strong>Genome-wide identification of pseudogenes capable of disease-causing gene conversion.</strong>
|
|
Hum. Mutat. 27: 545-552, 2006.
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[PubMed: 16671097]
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[Full Text: https://doi.org/10.1002/humu.20335]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bowne, S. J., Sullivan, L. S., Blanton, S. H., Cepko, C. L., Blackshaw, S., Birch, D. G., Hughbanks-Wheaton, D., Heckenlively, J. R., Daiger, S. P.
|
|
<strong>Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.</strong>
|
|
Hum. Molec. Genet. 11: 559-568, 2002.
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[PubMed: 11875050]
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[Full Text: https://doi.org/10.1093/hmg/11.5.559]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bowne, S. J., Sullivan, L. S., Mortimer, S. E., Hedstrom, L., Zhu, J., Spellicy, C. J., Gire, A. I., Hughbanks-Wheaton, D., Birch, D. G., Lewis, R. A., Heckenlively, J. R., Daiger, S. P.
|
|
<strong>Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis.</strong>
|
|
Invest. Ophthal. Vis. Sci. 47: 34-42, 2006.
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[PubMed: 16384941]
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[Full Text: https://doi.org/10.1167/iovs.05-0868]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Collart, F. R., Huberman, E.
|
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<strong>Cloning and sequence analysis of the human and Chinese hamster inosine-5-prime-monophosphate dehydrogenase cDNAs.</strong>
|
|
J. Biol. Chem. 263: 15769-15772, 1988.
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[PubMed: 2902093]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Coussa, R. G., Chakarova, C., Ajlan, R., Taha, M., Kavalec, C., Gomolin, J., Khan, A., Lopez, I., Ren, H., Waseem, N., Kamenarova, K., Bhattacharya, S. S., Koenekoop, R. K.
|
|
<strong>Genotype and phenotype studies in autosomal dominant retinitis pigmentosa (adRP) of the French Canadian founder population.</strong>
|
|
Invest. Ophthal. Vis. Sci. 56: 8297-8305, 2015. Note: Erratum: Invest. Ophthal. Vis. Sci. 58: 4768 only, 2017.
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[PubMed: 26720483]
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[Full Text: https://doi.org/10.1167/iovs.15-17104]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Doggett, N. A., Callen, D. F., Chen, Z. L., Moore, S., Tesmer, J. G., Duesing, L. A., Stallings, R. L.
|
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<strong>Identification and regional localization of a human IMP dehydrogenase-like locus (IMPDHL1) at 16p13.13.</strong>
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Genomics 18: 687-689, 1993.
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[PubMed: 7905856]
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[Full Text: https://doi.org/10.1016/s0888-7543(05)80374-x]
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Gu, J. J., Kaiser-Rogers, K., Rao, K., Mitchell, B. S.
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<strong>Assignment of the human type I IMP dehydrogenase gene (IMPDH1) to chromosome 7q31.3-q32.</strong>
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Genomics 24: 179-181, 1994.
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[PubMed: 7896275]
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[Full Text: https://doi.org/10.1006/geno.1994.1597]
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Kennan, A., Aherne, A., Palfi, A., Humphries, M., McKee, A., Stitt, A., Simpson, D. A. C., Demtroder, K., Orntoft, T., Ayuso, C., Kenna, P. F., Farrar, G. J., Humphries, P.
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<strong>Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho-/- mice.</strong>
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Hum. Molec. Genet. 11: 547-558, 2002.
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[PubMed: 11875049]
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[Full Text: https://doi.org/10.1093/hmg/11.5.547]
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Natsumeda, Y., Ohno, S., Kawasaki, H., Konno, Y., Weber, G., Suzuki, K.
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<strong>Two distinct cDNAs for human IMP dehydrogenase.</strong>
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J. Biol. Chem. 265: 5292-5295, 1990.
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[PubMed: 1969416]
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Tam, L. C. S., Kiang, A.-S., Campbell, M., Keaney, J., Farrar, G. J., Humphries, M. M., Kenna, P. F., Humphries, P.
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<strong>Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90).</strong>
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Hum. Molec. Genet. 19: 4421-4436, 2010.
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[PubMed: 20817636]
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[Full Text: https://doi.org/10.1093/hmg/ddq369]
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Wada, Y., Sandberg, M. A., McGee, T. L., Stillberger, M. A., Berson, E. L., Dryja, T. P.
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<strong>Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.</strong>
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Invest. Ophthal. Vis. Sci. 46: 1735-1741, 2005.
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[PubMed: 15851576]
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[Full Text: https://doi.org/10.1167/iovs.04-1197]
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George E. Tiller - updated : 09/13/2017<br>Jane Kelly - updated : 09/07/2016<br>George E. Tiller - updated : 11/29/2006<br>Jane Kelly - updated : 9/11/2006<br>Victor A. McKusick - updated : 7/12/2006<br>Jane Kelly - updated : 11/16/2005<br>George E. Tiller - updated : 10/4/2002<br>George E. Tiller - updated : 10/3/2002
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Victor A. McKusick : 11/30/1988
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carol : 09/20/2018<br>carol : 05/31/2018<br>alopez : 09/13/2017<br>carol : 09/07/2016<br>joanna : 08/04/2016<br>carol : 03/25/2011<br>joanna : 7/27/2010<br>alopez : 3/19/2010<br>carol : 4/3/2009<br>carol : 11/29/2006<br>carol : 9/11/2006<br>alopez : 7/19/2006<br>terry : 7/12/2006<br>alopez : 11/16/2005<br>cwells : 10/4/2002<br>cwells : 10/3/2002<br>terry : 11/15/2001<br>carol : 9/22/1999<br>terry : 12/5/1994<br>supermim : 3/16/1992<br>carol : 6/8/1990<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>root : 11/30/1988
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