3495 lines
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- *165640 - ORNITHINE DECARBOXYLASE 1; ODC1
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- OMIM
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<p>
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<span class="h4">*165640</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/165640">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></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 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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<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=ENSG00000115758;t=ENST00000234111" 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=4953" 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=165640" 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=ENSG00000115758;t=ENST00000234111" 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_001287188,NM_001287189,NM_001287190,NM_002539" 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_002539" 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=165640" 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=01324&isoform_id=01324_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/ODC1" 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/35136,118377,189371,189373,288103,296667,338278,338280,386989,4433179,4505489,19263696,29893806,50833766,56410853,62822486,86651670,119621363,119621364,158258136,189053466,194378014,444738233,563580285,563580287,563580289" 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/P11926" 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=4953" 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=ENSG00000115758;t=ENST00000234111" 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=ODC1" 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=ODC1" 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+4953" 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/ODC1" 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:4953" 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/4953" 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=chr2&hgg_gene=ENST00000234111.9&hgg_start=10439968&hgg_end=10448327&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=165640[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=165640[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/ODC1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000115758" 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.gwascentral.org/search?q=ODC1" 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=ODC1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ODC1&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/PA31897" 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:8109" 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/FBgn0013307.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:97402" 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/ODC1#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:97402" 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/4953/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=4953" 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=WBGene00003844;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-010816-1" 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="mimCellLines">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:165640" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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:4953" 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=ODC1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1222658006<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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165640
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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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ORNITHINE DECARBOXYLASE 1; ODC1
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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="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>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
ORNITHINE DECARBOXYLASE PSEUDOGENE, INCLUDED; ODCP, INCLUDED
|
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</span>
|
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</div>
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<div>
|
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<span class="h4 mim-font">
|
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ORNITHINE DECARBOXYLASE 2, INCLUDED; ODC2, 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=ODC1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ODC1</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/2/42?start=-3&limit=10&highlight=42">2p25.1</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:10439968-10448327&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'})">2:10,439,968-10,448,327</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/42?start=-3&limit=10&highlight=42">
|
|
2p25.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Bachmann-Bupp syndrome
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/619075"> 619075 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/165640" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>Ornithine decarboxylase (<a href="https://enzyme.expasy.org/EC/4.1.1.17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 4.1.1.17</a>) catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. The activity of the enzyme fluctuates rapidly in response to various growth-promoting stimuli, and ODC exhibits one of the most rapid turnover rates of mammalian proteins. <a href="#15" class="mim-tip-reference" title="Winqvist, R., Makela, T. P., Seppanen, P., Janne, O. A., Alhonen-Hongisto, L., Janne, J., Grzeschik, K.-H., Alitalo, K. <strong>Human ornithine decarboxylase sequences map to chromosome regions 2pter-p23 and 7cen-qter but are not coamplified with the NMYC oncogene.</strong> Cytogenet. Cell Genet. 42: 133-140, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3755388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3755388</a>] [<a href="https://doi.org/10.1159/000132266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3755388">Winqvist et al. (1986)</a> used a mouse cDNA probe to isolate human cDNA clones from a library prepared from human liver mRNA. Unlike the mouse genome, there are only a few ODC genes in the human genome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3755388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Hickok, N. J., Seppanen, P. J., Gunsalus, G. L., Janne, O. A. <strong>Complete amino acid sequence of human ornithine decarboxylase deduced from complementary DNA.</strong> DNA 6: 179-187, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3595418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3595418</a>] [<a href="https://doi.org/10.1089/dna.1987.6.179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3595418">Hickok et al. (1987)</a> deduced the complete amino acid sequence of human ODC from a complementary cDNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3595418" 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>Ornithine decarboxylase, the first enzyme in polyamine synthesis, is a transcriptional target of MYC (<a href="/entry/190080">190080</a>) and a modifier of APC (<a href="/entry/611731">611731</a>)-dependent tumorigenesis. ODC promoter activity is influenced by cooperative interactions involving neighboring E-boxes (<a href="#14" class="mim-tip-reference" title="Walhout, A. J. M., Gubbels, J. M., Bernards, R., van der Vliet, P. C., Timmers, H. T. M. <strong>c-Myc/Max heterodimers bind cooperatively to the E-box sequences located in the first intron of the rat ornithine decarboxylase (ODC) gene.</strong> Nucleic Acids Res. 25: 1493-1501, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9162900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9162900</a>] [<a href="https://doi.org/10.1093/nar/25.8.1493" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9162900">Walhout et al., 1997</a>). A polymorphic site, situated between 2 E-boxes, was identified in the human ODC promoter and shown to affect MYC-dependent ODC promoter activity in rodent fibroblasts (<a href="#5" class="mim-tip-reference" title="Guo, Y., Harris, R. B., Rosson, D., Boorman, D., O'Brien, T. G. <strong>Functional analysis of human ornithine decarboxylase alleles.</strong> Cancer Res. 60: 6314-6317, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11103791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11103791</a>]" pmid="11103791">Guo et al., 2000</a>). A GC box in the proximal promoter of the ODC1 gene is required for basal and induced transcriptional activity. <a href="#8" class="mim-tip-reference" title="Law, G. L., Itoh, H., Law, D. J., Mize, G. J., Merchant, J. L., Morris, D. R. <strong>Transcription factor ZBP-89 regulates the activity of the ornithine decarboxylase promoter.</strong> J. Biol. Chem. 273: 19955-19964, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9685330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9685330</a>] [<a href="https://doi.org/10.1074/jbc.273.32.19955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9685330">Law et al. (1998)</a> determined that SP1 (<a href="/entry/189906">189906</a>) and ZBP89 (<a href="/entry/601897">601897</a>) bound to this region in a mutually exclusive manner, and that ZBP89 inhibited SP1-activated ODC1 promoter activity following transfection in insect cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9162900+11103791+9685330" 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>Translation of ODC, the rate-limiting enzyme in the biosynthesis of polyamines, peaks twice during the cell cycle, at the G1/S transition and at G2/M. <a href="#10" class="mim-tip-reference" title="Pyronnet, S., Pradayrol, L., Sonenberg, N. <strong>A cell cycle-dependent internal ribosome entry site.</strong> Molec. Cell 5: 607-616, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10882097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10882097</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80240-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10882097">Pyronnet et al. (2000)</a> identified a cap-independent internal ribosome entry site (IRES) in the ODC mRNA that functions exclusively at G2/M. This ensures elevated levels of polyamines, which are implicated in mitotic spindle formation and chromatin condensation. MYC mRNA also contains an IRES that functions during mitosis. Thus, <a href="#10" class="mim-tip-reference" title="Pyronnet, S., Pradayrol, L., Sonenberg, N. <strong>A cell cycle-dependent internal ribosome entry site.</strong> Molec. Cell 5: 607-616, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10882097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10882097</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80240-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10882097">Pyronnet et al. (2000)</a> concluded that IRES-dependent translation is likely to be a general mechanism to synthesize short-lived proteins even at mitosis, when cap-dependent translation is interdicted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10882097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#15" class="mim-tip-reference" title="Winqvist, R., Makela, T. P., Seppanen, P., Janne, O. A., Alhonen-Hongisto, L., Janne, J., Grzeschik, K.-H., Alitalo, K. <strong>Human ornithine decarboxylase sequences map to chromosome regions 2pter-p23 and 7cen-qter but are not coamplified with the NMYC oncogene.</strong> Cytogenet. Cell Genet. 42: 133-140, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3755388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3755388</a>] [<a href="https://doi.org/10.1159/000132266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3755388">Winqvist et al. (1986)</a> observed that human DNA fragments segregated with 2pter-p23 and 7cen-qter in mouse-human somatic cell hybrids containing rearranged chromosomes. Despite the fact that that segment of chromosome 2 contains the NMYC gene (<a href="/entry/164840">164840</a>), which is involved in a number of neoplasms, coamplification of ODC was not found. The ODC gene on chromosome 2 was tentatively called ODC1 and that on 7 ODC2 (ODCP). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3755388" 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="#16" class="mim-tip-reference" title="Yang-Feng, T. L., Barton, D. E., Thelander, L., Lewis, W. H., Srinivasan, P. R., Francke, U. <strong>Ribonucleotide reductase M2 subunit sequences mapped to four different chromosomal sites in humans and mice: functional locus identified by its amplification in hydroxyurea-resistant cell lines.</strong> Genomics 1: 77-86, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3311968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3311968</a>] [<a href="https://doi.org/10.1016/0888-7543(87)90108-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3311968">Yang-Feng et al. (1987)</a> assigned ODC to 2p25-p24 by Southern blot analysis of DNA from somatic cell hybrids and by in situ hybridization. They also assigned the corresponding gene in the mouse to chromosome 12. ODC is presumably closely linked to RRM2 (<a href="/entry/180390">180390</a>) because both are amplified in human and mouse hydroxyurea-resistant cells. By in situ hybridization, <a href="#11" class="mim-tip-reference" title="Radford, D. M., Nakai, H., Byers, M. G., Eddy, R. L., Haley, L. L., Henry, W. M., Shows, T. B. <strong>Mapping the ornithine decarboxylase gene (ODC1 and ODC2) to 2p25 and 7q31-qter, respectively. (Abstract)</strong> Cytogenet. Cell Genet. 46: 678 only, 1987."None>Radford et al. (1987)</a> narrowed the localization to 2p25. The chromosome 2 locus appears to be the functional ODC gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3311968" 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="Cox, D. R., Trouillot, T., Ashley, P. L., Brabant, M., Coffino, P. <strong>A functional mouse ornithine decarboxylase gene (Odc) maps to chromosome 12: further evidence of homoeology between mouse chromosome 12 and the short arm of human chromosome 2.</strong> Cytogenet. Cell Genet. 48: 92-94, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3197454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3197454</a>] [<a href="https://doi.org/10.1159/000132597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3197454">Cox et al. (1988)</a> used a genomic probe specific for a functional mouse Odc gene in conjunction with a panel of Chinese hamster x mouse somatic cell hybrids to assign Odc to mouse chromosome 12. There is considerable genetic homology between a region of mouse chromosome 12 and the distal short arm of human chromosome 2. <a href="#13" class="mim-tip-reference" title="Villani, V., Coffino, P., D'Eustachio, P. <strong>Linkage genetics of mouse ornithine decarboxylase (Odc).</strong> Genomics 5: 636-638, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2575591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2575591</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90035-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2575591">Villani et al. (1989)</a> also presented data on the mapping of Odc on mouse chromosome 12. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3197454+2575591" 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>Pseudogenes</em></strong></p><p>
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Using a chromosomal rearrangement and somatic cell hybrids, <a href="#11" class="mim-tip-reference" title="Radford, D. M., Nakai, H., Byers, M. G., Eddy, R. L., Haley, L. L., Henry, W. M., Shows, T. B. <strong>Mapping the ornithine decarboxylase gene (ODC1 and ODC2) to 2p25 and 7q31-qter, respectively. (Abstract)</strong> Cytogenet. Cell Genet. 46: 678 only, 1987."None>Radford et al. (1987)</a> assigned the ODC2 locus to 7q31-qter. This pseudogene is also symbolized ODCP.</p>
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<p>In 4 unrelated patients with Bachmann-Bupp syndrome (BABS; <a href="/entry/619075">619075</a>), <a href="#12" class="mim-tip-reference" title="Rodan, L. H., Anyane-Yeboa, K., Chong, K., Wassink-Ruiter, J. S., Wilson, A., Smith, L., Kothare, S. V., Rajabi, F., Blaser, S., Ni, M., DeBerardinis, R. J., Poduri, A., Berry, G. T. <strong>Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.</strong> Am. J. Med. Genet. 176A: 2554-2560, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30475435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30475435</a>] [<a href="https://doi.org/10.1002/ajmg.a.60677" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30475435">Rodan et al. (2018)</a> identified de novo heterozygous mutations in the ODC1 gene (<a href="#0002">165640.0002</a>-<a href="#0005">165640.0005</a>). All of the mutations were identified by trio whole-exome sequencing. The resultant proteins were predicted to escape nonsense-mediated decay and to have a truncated C terminus, leading to decreased protein degradation and a net increase in enzyme activity. <a href="#12" class="mim-tip-reference" title="Rodan, L. H., Anyane-Yeboa, K., Chong, K., Wassink-Ruiter, J. S., Wilson, A., Smith, L., Kothare, S. V., Rajabi, F., Blaser, S., Ni, M., DeBerardinis, R. J., Poduri, A., Berry, G. T. <strong>Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.</strong> Am. J. Med. Genet. 176A: 2554-2560, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30475435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30475435</a>] [<a href="https://doi.org/10.1002/ajmg.a.60677" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30475435">Rodan et al. (2018)</a> noted that the close proximity of the mutations suggested a mutation hotspot. A gain in ODC activity was supported by increased N-acetylputrescine levels in plasma from one of the patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30475435" 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="#3" class="mim-tip-reference" title="Bupp, C. P., Schultz, C. R., Uhl, K. L., Rajasekaran, S., Bachmann, A. S. <strong>Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features.</strong> Am. J. Med. Genet. 176A: 2548-2553, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30239107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30239107</a>] [<a href="https://doi.org/10.1002/ajmg.a.40523" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30239107">Bupp et al. (2018)</a> identified a de novo heterozygous nonsense mutation in the ODC1 gene (K448X; <a href="#0006">165640.0006</a>) in a 32-month-old girl with BABS. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. Molecular modeling suggested that due to lack of a C terminus in the mutant protein, antizyme binding does not induce ODC degradation, leading to accumulation of active protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30239107" 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>Associations Pending Confirmation</em></strong></p><p>
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<a href="#9" class="mim-tip-reference" title="Martinez, M. E., O'Brien, T. G., Fultz, K. E., Babbar, N., Yerushalmi, H., Qu, N., Guo, Y., Boorman, D., Einspahr, J., Alberts, D. S., Gerner, E. W. <strong>Pronounced reduction in adenoma recurrence associated with aspirin use and a polymorphism in the ornithine decarboxylase gene.</strong> Proc. Nat. Acad. Sci. 100: 7859-7864, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12810952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12810952</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12810952[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/10.1073/pnas.1332465100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12810952">Martinez et al. (2003)</a> assessed the relationship between an ODC polymorphism (<a href="#0001">165640.0001</a>) and the risk of abnormal recurrence in participants in a colon cancer prevention trial. They further investigated whether this association was modified by aspirin use. Epidemiologic analyses revealed a substantial and statistically significant affect of the ODC polymorphism on risk of adenoma recurrence and aspirin uses. They presented experimental studies in cell culture models that may explain the epidemiologic results, suggesting that one likely mechanism for both ODC polymorphism and aspirin is their effect on intracellular polyamine pools. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12810952" 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=165640[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs2302615 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2302615;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/rs2302615?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=rs2302615" 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=rs2302615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>This variant, formerly titled COLONIC ADENOMA RECURRENCE, REDUCED RISK OF, has been reclassified as a polymorphism.</p><p>A G-A single-nucleotide polymorphism (SNP) is positioned between 2 E boxes in intron 1 at +316 of the ODC1 gene.</p><p><strong><em>Colonic Adenoma Recurrence, Reduced Risk of</em></strong></p><p>
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<a href="#9" class="mim-tip-reference" title="Martinez, M. E., O'Brien, T. G., Fultz, K. E., Babbar, N., Yerushalmi, H., Qu, N., Guo, Y., Boorman, D., Einspahr, J., Alberts, D. S., Gerner, E. W. <strong>Pronounced reduction in adenoma recurrence associated with aspirin use and a polymorphism in the ornithine decarboxylase gene.</strong> Proc. Nat. Acad. Sci. 100: 7859-7864, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12810952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12810952</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12810952[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/10.1073/pnas.1332465100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12810952">Martinez et al. (2003)</a> found that individuals homozygous for the minor ODC1 A allele who reported using aspirin were 0.10 times as likely to have an adenoma recurrence as non-aspirin users homozygous for the major G allele. MAD1 selectively suppressed the activity of the ODC1 promoter containing the A allele, but not the G allele, in a human colon cancer-derived cell line. Aspirin did not affect ODC1 allele-specific promoter activity but did activate polyamine catabolism and lower polyamine content in the same colon cancer-derived cell line. <a href="#9" class="mim-tip-reference" title="Martinez, M. E., O'Brien, T. G., Fultz, K. E., Babbar, N., Yerushalmi, H., Qu, N., Guo, Y., Boorman, D., Einspahr, J., Alberts, D. S., Gerner, E. W. <strong>Pronounced reduction in adenoma recurrence associated with aspirin use and a polymorphism in the ornithine decarboxylase gene.</strong> Proc. Nat. Acad. Sci. 100: 7859-7864, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12810952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12810952</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12810952[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/10.1073/pnas.1332465100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12810952">Martinez et al. (2003)</a> suggested that the ODC1 polymorphism and aspirin act independently to reduce the risk of adenoma recurrence by suppressing synthesis and activating catabolism, respectively, of colonic mucosal polyamines. These findings confirm the hypothesis that the ODC1 polymorphism is a genetic marker for colon cancer risk, and support the use of ODC1 inhibitors and aspirin, or other nonsteroidal antiinflammatory drugs (NSAIDs), in combination as a strategy for colon cancer prevention. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12810952" 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="#6" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. 10/13/2020."None>Hamosh (2020)</a> noted that this variant is present in 10,196 of 31,084 alleles and in 1,685 homozygotes in the gnomAD database (10/13/2020).</p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1671814748 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1671814748;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=rs1671814748" 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=rs1671814748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 7-year-old boy (patient 1) with Bachmann-Bupp syndrome (BABS; <a href="/entry/619075">619075</a>), <a href="#12" class="mim-tip-reference" title="Rodan, L. H., Anyane-Yeboa, K., Chong, K., Wassink-Ruiter, J. S., Wilson, A., Smith, L., Kothare, S. V., Rajabi, F., Blaser, S., Ni, M., DeBerardinis, R. J., Poduri, A., Berry, G. T. <strong>Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.</strong> Am. J. Med. Genet. 176A: 2554-2560, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30475435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30475435</a>] [<a href="https://doi.org/10.1002/ajmg.a.60677" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30475435">Rodan et al. (2018)</a> identified a de novo heterozygous splice site mutation (c.1241+1G-T, NM_001287190.1) in intron 11 of the ODC1 gene. The mutation, which was identified by trio whole-exome sequencing, was predicted to destroy a canonical splice site. The resultant protein was predicted to escape nonsense-mediated decay and to have a truncated C terminus, leading to decreased protein degradation and a net increase in enzyme activity. The mutation was not present in the gnomAD database. Elevated N-acetylputrescine was demonstrated in patient plasma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30475435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1671814787 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1671814787;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=rs1671814787" 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=rs1671814787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 16-year-old girl (patient 2) with Bachmann-Bupp syndrome (BABS; <a href="/entry/619075">619075</a>), <a href="#12" class="mim-tip-reference" title="Rodan, L. H., Anyane-Yeboa, K., Chong, K., Wassink-Ruiter, J. S., Wilson, A., Smith, L., Kothare, S. V., Rajabi, F., Blaser, S., Ni, M., DeBerardinis, R. J., Poduri, A., Berry, G. T. <strong>Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.</strong> Am. J. Med. Genet. 176A: 2554-2560, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30475435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30475435</a>] [<a href="https://doi.org/10.1002/ajmg.a.60677" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30475435">Rodan et al. (2018)</a> identified a de novo heterozygous 2-bp duplication (c.1240_1241dupTG, NM_001287190.1) in the ODC1 gene, resulting in a frameshift and an early termination codon (Trp414CysfsTer17). The mutation was identified by trio whole-exome sequencing. The resultant protein was predicted to escape nonsense-mediated decay and to have a truncated C terminus, leading to decreased protein degradation and a net increase in enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30475435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1671798353 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1671798353;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=rs1671798353" 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=rs1671798353" 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=RCV001263230" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001263230" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001263230</a>
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<p>In an 8-year-old boy (patient 3) with Bachmann-Bupp syndrome (BABS; <a href="/entry/619075">619075</a>), <a href="#12" class="mim-tip-reference" title="Rodan, L. H., Anyane-Yeboa, K., Chong, K., Wassink-Ruiter, J. S., Wilson, A., Smith, L., Kothare, S. V., Rajabi, F., Blaser, S., Ni, M., DeBerardinis, R. J., Poduri, A., Berry, G. T. <strong>Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.</strong> Am. J. Med. Genet. 176A: 2554-2560, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30475435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30475435</a>] [<a href="https://doi.org/10.1002/ajmg.a.60677" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30475435">Rodan et al. (2018)</a> identified a de novo heterozygous c.1255C-T transition (c.1255C-T, NM_001287190.1), resulting in a gln419-to-ter (Q419X) substitution. The mutation was identified by trio whole-exome sequencing. The resultant protein was predicted to escape nonsense-mediated decay and to have a truncated C terminus, leading to decreased protein degradation and a net increase in enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30475435" 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 BACHMANN-BUPP SYNDROME</strong>
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ODC1, 22-BP DEL, NT1242
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001263231" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001263231" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001263231</a>
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<p>In a male infant who was stillborn at 34 weeks' gestation with Bachmann-Bupp syndrome (BABS; <a href="/entry/619075">619075</a>), <a href="#12" class="mim-tip-reference" title="Rodan, L. H., Anyane-Yeboa, K., Chong, K., Wassink-Ruiter, J. S., Wilson, A., Smith, L., Kothare, S. V., Rajabi, F., Blaser, S., Ni, M., DeBerardinis, R. J., Poduri, A., Berry, G. T. <strong>Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.</strong> Am. J. Med. Genet. 176A: 2554-2560, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30475435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30475435</a>] [<a href="https://doi.org/10.1002/ajmg.a.60677" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30475435">Rodan et al. (2018)</a> identified a de novo heterozygous 22-bp deletion (c.1242_1263del22, NM_001287190.1) in the ODC1 gene, resulting in a trp414-to-ter (W414X) substitution. The mutation was identified by trio whole-exome sequencing. The resultant protein was predicted to escape nonsense-mediated decay and to have a truncated C terminus, leading to decreased protein degradation and a net increase in enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30475435" 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 BACHMANN-BUPP SYNDROME</strong>
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ODC1, LYS448TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1671794742 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1671794742;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=rs1671794742" 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=rs1671794742" 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=RCV001263232" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001263232" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001263232</a>
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<span class="mim-text-font">
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<p>In a 32-month-old girl with Bachmann-Bupp syndrome (BABS; <a href="/entry/619075">619075</a>), <a href="#3" class="mim-tip-reference" title="Bupp, C. P., Schultz, C. R., Uhl, K. L., Rajasekaran, S., Bachmann, A. S. <strong>Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features.</strong> Am. J. Med. Genet. 176A: 2548-2553, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30239107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30239107</a>] [<a href="https://doi.org/10.1002/ajmg.a.40523" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30239107">Bupp et al. (2018)</a> identified a de novo heterozygous c.1342A-T transversion (c.1342A-T, NM_001287190.1) in the ODC1 gene, resulting in a lys448-to-ter (K448X) substitution. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. Neither parent had the mutation. Molecular modeling suggested that due to lack of a C terminus in the mutant protein, antizyme binding does not induce degradation, which leads to accumulation of active ODC protein. Western blotting showed an elevation of ODC protein levels in patient red blood cells. Elevated putrescine was demonstrated in patient red blood cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30239107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<a id="seeAlso" class="mim-anchor"></a>
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<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>See Also:</strong>
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</span>
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</h4>
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<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<a href="#Alhonen-Hongisto1987" class="mim-tip-reference" title="Alhonen-Hongisto, L., Leinonen, P., Sinervirta, R., Laine, R., Winqvist, R., Alitalo, K., Janne, O. A., Janne, J. <strong>Mouse and human ornithine decarboxylase genes: methylation polymorphism and amplification.</strong> Biochem. J. 242: 205-210, 1987.">Alhonen-Hongisto et al. (1987)</a>; <a href="#Brabant1988" class="mim-tip-reference" title="Brabant, M., McConlogue, L., van Daalen Wetters, T., Coffino, P. <strong>Mouse ornithine decarboxylase gene: cloning, structure, and expression.</strong> Proc. Nat. Acad. Sci. 85: 2200-2204, 1988.">Brabant et al. (1988)</a>
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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="1" class="mim-anchor"></a>
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<a id="Alhonen-Hongisto1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Alhonen-Hongisto, L., Leinonen, P., Sinervirta, R., Laine, R., Winqvist, R., Alitalo, K., Janne, O. A., Janne, J.
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<strong>Mouse and human ornithine decarboxylase genes: methylation polymorphism and amplification.</strong>
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Biochem. J. 242: 205-210, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3036086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3036086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3036086" 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/10.1042/bj2420205" target="_blank">Full Text</a>]
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<a id="Brabant1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Brabant, M., McConlogue, L., van Daalen Wetters, T., Coffino, P.
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<strong>Mouse ornithine decarboxylase gene: cloning, structure, and expression.</strong>
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Proc. Nat. Acad. Sci. 85: 2200-2204, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3353375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3353375</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3353375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.85.7.2200" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Bupp2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Bupp, C. P., Schultz, C. R., Uhl, K. L., Rajasekaran, S., Bachmann, A. S.
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<strong>Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features.</strong>
|
|
Am. J. Med. Genet. 176A: 2548-2553, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30239107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30239107</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30239107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.40523" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Cox1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Cox, D. R., Trouillot, T., Ashley, P. L., Brabant, M., Coffino, P.
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<strong>A functional mouse ornithine decarboxylase gene (Odc) maps to chromosome 12: further evidence of homoeology between mouse chromosome 12 and the short arm of human chromosome 2.</strong>
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Cytogenet. Cell Genet. 48: 92-94, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3197454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3197454</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3197454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000132597" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Guo2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Guo, Y., Harris, R. B., Rosson, D., Boorman, D., O'Brien, T. G.
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<strong>Functional analysis of human ornithine decarboxylase alleles.</strong>
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Cancer Res. 60: 6314-6317, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11103791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11103791</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11103791" 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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<a id="6" class="mim-anchor"></a>
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<a id="Hamosh2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hamosh, A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 10/13/2020.
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<a id="7" class="mim-anchor"></a>
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<a id="Hickok1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hickok, N. J., Seppanen, P. J., Gunsalus, G. L., Janne, O. A.
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<strong>Complete amino acid sequence of human ornithine decarboxylase deduced from complementary DNA.</strong>
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DNA 6: 179-187, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3595418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3595418</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3595418" 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/10.1089/dna.1987.6.179" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Law1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Law, G. L., Itoh, H., Law, D. J., Mize, G. J., Merchant, J. L., Morris, D. R.
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<strong>Transcription factor ZBP-89 regulates the activity of the ornithine decarboxylase promoter.</strong>
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J. Biol. Chem. 273: 19955-19964, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9685330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9685330</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9685330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.273.32.19955" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Martinez2003" class="mim-anchor"></a>
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<p class="mim-text-font">
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Martinez, M. E., O'Brien, T. G., Fultz, K. E., Babbar, N., Yerushalmi, H., Qu, N., Guo, Y., Boorman, D., Einspahr, J., Alberts, D. S., Gerner, E. W.
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<strong>Pronounced reduction in adenoma recurrence associated with aspirin use and a polymorphism in the ornithine decarboxylase gene.</strong>
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Proc. Nat. Acad. Sci. 100: 7859-7864, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12810952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12810952</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12810952[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=12810952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.1332465100" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Pyronnet2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pyronnet, S., Pradayrol, L., Sonenberg, N.
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<strong>A cell cycle-dependent internal ribosome entry site.</strong>
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Molec. Cell 5: 607-616, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10882097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10882097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10882097" 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/s1097-2765(00)80240-3" target="_blank">Full Text</a>]
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<a id="Radford1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Radford, D. M., Nakai, H., Byers, M. G., Eddy, R. L., Haley, L. L., Henry, W. M., Shows, T. B.
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<strong>Mapping the ornithine decarboxylase gene (ODC1 and ODC2) to 2p25 and 7q31-qter, respectively. (Abstract)</strong>
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Cytogenet. Cell Genet. 46: 678 only, 1987.
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</p>
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<a id="12" class="mim-anchor"></a>
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<a id="Rodan2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rodan, L. H., Anyane-Yeboa, K., Chong, K., Wassink-Ruiter, J. S., Wilson, A., Smith, L., Kothare, S. V., Rajabi, F., Blaser, S., Ni, M., DeBerardinis, R. J., Poduri, A., Berry, G. T.
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<strong>Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.</strong>
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Am. J. Med. Genet. 176A: 2554-2560, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30475435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30475435</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30475435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.60677" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Villani1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Villani, V., Coffino, P., D'Eustachio, P.
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<strong>Linkage genetics of mouse ornithine decarboxylase (Odc).</strong>
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Genomics 5: 636-638, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2575591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2575591</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2575591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(89)90035-9" 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="14" class="mim-anchor"></a>
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<a id="Walhout1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Walhout, A. J. M., Gubbels, J. M., Bernards, R., van der Vliet, P. C., Timmers, H. T. M.
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<strong>c-Myc/Max heterodimers bind cooperatively to the E-box sequences located in the first intron of the rat ornithine decarboxylase (ODC) gene.</strong>
|
|
Nucleic Acids Res. 25: 1493-1501, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9162900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9162900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9162900" 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/nar/25.8.1493" 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="15" class="mim-anchor"></a>
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<a id="Winqvist1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Winqvist, R., Makela, T. P., Seppanen, P., Janne, O. A., Alhonen-Hongisto, L., Janne, J., Grzeschik, K.-H., Alitalo, K.
|
|
<strong>Human ornithine decarboxylase sequences map to chromosome regions 2pter-p23 and 7cen-qter but are not coamplified with the NMYC oncogene.</strong>
|
|
Cytogenet. Cell Genet. 42: 133-140, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3755388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3755388</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3755388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000132266" 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="16" class="mim-anchor"></a>
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<a id="Yang-Feng1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yang-Feng, T. L., Barton, D. E., Thelander, L., Lewis, W. H., Srinivasan, P. R., Francke, U.
|
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<strong>Ribonucleotide reductase M2 subunit sequences mapped to four different chromosomal sites in humans and mice: functional locus identified by its amplification in hydroxyurea-resistant cell lines.</strong>
|
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Genomics 1: 77-86, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3311968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3311968</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3311968" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(87)90108-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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</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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Hilary J. Vernon - updated : 10/29/2020
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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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Patricia A. Hartz - updated : 10/27/2003<br>Victor A. McKusick - updated : 7/16/2003<br>Stylianos E. Antonarakis - updated : 6/20/2000<br>Victor A. McKusick - edited : 3/7/1997
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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 : 10/16/1986
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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 : 01/07/2025
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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 : 01/05/2021<br>carol : 11/05/2020<br>carol : 10/31/2020<br>carol : 10/29/2020<br>carol : 10/13/2020<br>alopez : 02/18/2014<br>alopez : 2/18/2014<br>alopez : 11/11/2009<br>ckniffin : 2/5/2008<br>cwells : 11/3/2003<br>terry : 10/27/2003<br>tkritzer : 7/30/2003<br>cwells : 7/24/2003<br>terry : 7/16/2003<br>mgross : 6/20/2000<br>carol : 8/17/1998<br>dkim : 7/24/1998<br>dkim : 7/2/1998<br>mark : 3/7/1997<br>supermim : 3/16/1992<br>carol : 7/3/1991<br>supermim : 3/20/1990<br>carol : 12/20/1989<br>carol : 12/18/1989<br>ddp : 10/27/1989
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 165640
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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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|
ORNITHINE DECARBOXYLASE 1; ODC1
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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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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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ORNITHINE DECARBOXYLASE PSEUDOGENE, INCLUDED; ODCP, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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ORNITHINE DECARBOXYLASE 2, INCLUDED; ODC2, 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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ODC1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1222658006;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<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: 2p25.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:10,439,968-10,448,327 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
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</th>
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<th>
|
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
2p25.1
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Bachmann-Bupp syndrome
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
619075
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
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<span class="mim-text-font">
|
|
<p>Ornithine decarboxylase (EC 4.1.1.17) catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. The activity of the enzyme fluctuates rapidly in response to various growth-promoting stimuli, and ODC exhibits one of the most rapid turnover rates of mammalian proteins. Winqvist et al. (1986) used a mouse cDNA probe to isolate human cDNA clones from a library prepared from human liver mRNA. Unlike the mouse genome, there are only a few ODC genes in the human genome. </p><p>Hickok et al. (1987) deduced the complete amino acid sequence of human ODC from a complementary cDNA. </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>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Ornithine decarboxylase, the first enzyme in polyamine synthesis, is a transcriptional target of MYC (190080) and a modifier of APC (611731)-dependent tumorigenesis. ODC promoter activity is influenced by cooperative interactions involving neighboring E-boxes (Walhout et al., 1997). A polymorphic site, situated between 2 E-boxes, was identified in the human ODC promoter and shown to affect MYC-dependent ODC promoter activity in rodent fibroblasts (Guo et al., 2000). A GC box in the proximal promoter of the ODC1 gene is required for basal and induced transcriptional activity. Law et al. (1998) determined that SP1 (189906) and ZBP89 (601897) bound to this region in a mutually exclusive manner, and that ZBP89 inhibited SP1-activated ODC1 promoter activity following transfection in insect cells. </p><p>Translation of ODC, the rate-limiting enzyme in the biosynthesis of polyamines, peaks twice during the cell cycle, at the G1/S transition and at G2/M. Pyronnet et al. (2000) identified a cap-independent internal ribosome entry site (IRES) in the ODC mRNA that functions exclusively at G2/M. This ensures elevated levels of polyamines, which are implicated in mitotic spindle formation and chromatin condensation. MYC mRNA also contains an IRES that functions during mitosis. Thus, Pyronnet et al. (2000) concluded that IRES-dependent translation is likely to be a general mechanism to synthesize short-lived proteins even at mitosis, when cap-dependent translation is interdicted. </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>
|
|
<span class="mim-font">
|
|
<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">
|
|
<p>Winqvist et al. (1986) observed that human DNA fragments segregated with 2pter-p23 and 7cen-qter in mouse-human somatic cell hybrids containing rearranged chromosomes. Despite the fact that that segment of chromosome 2 contains the NMYC gene (164840), which is involved in a number of neoplasms, coamplification of ODC was not found. The ODC gene on chromosome 2 was tentatively called ODC1 and that on 7 ODC2 (ODCP). </p><p>Yang-Feng et al. (1987) assigned ODC to 2p25-p24 by Southern blot analysis of DNA from somatic cell hybrids and by in situ hybridization. They also assigned the corresponding gene in the mouse to chromosome 12. ODC is presumably closely linked to RRM2 (180390) because both are amplified in human and mouse hydroxyurea-resistant cells. By in situ hybridization, Radford et al. (1987) narrowed the localization to 2p25. The chromosome 2 locus appears to be the functional ODC gene. </p><p>Cox et al. (1988) used a genomic probe specific for a functional mouse Odc gene in conjunction with a panel of Chinese hamster x mouse somatic cell hybrids to assign Odc to mouse chromosome 12. There is considerable genetic homology between a region of mouse chromosome 12 and the distal short arm of human chromosome 2. Villani et al. (1989) also presented data on the mapping of Odc on mouse chromosome 12. </p><p><strong><em>Pseudogenes</em></strong></p><p>
|
|
Using a chromosomal rearrangement and somatic cell hybrids, Radford et al. (1987) assigned the ODC2 locus to 7q31-qter. This pseudogene is also symbolized ODCP.</p>
|
|
</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 4 unrelated patients with Bachmann-Bupp syndrome (BABS; 619075), Rodan et al. (2018) identified de novo heterozygous mutations in the ODC1 gene (165640.0002-165640.0005). All of the mutations were identified by trio whole-exome sequencing. The resultant proteins were predicted to escape nonsense-mediated decay and to have a truncated C terminus, leading to decreased protein degradation and a net increase in enzyme activity. Rodan et al. (2018) noted that the close proximity of the mutations suggested a mutation hotspot. A gain in ODC activity was supported by increased N-acetylputrescine levels in plasma from one of the patients. </p><p>Bupp et al. (2018) identified a de novo heterozygous nonsense mutation in the ODC1 gene (K448X; 165640.0006) in a 32-month-old girl with BABS. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. Molecular modeling suggested that due to lack of a C terminus in the mutant protein, antizyme binding does not induce ODC degradation, leading to accumulation of active protein. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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Martinez et al. (2003) assessed the relationship between an ODC polymorphism (165640.0001) and the risk of abnormal recurrence in participants in a colon cancer prevention trial. They further investigated whether this association was modified by aspirin use. Epidemiologic analyses revealed a substantial and statistically significant affect of the ODC polymorphism on risk of adenoma recurrence and aspirin uses. They presented experimental studies in cell culture models that may explain the epidemiologic results, suggesting that one likely mechanism for both ODC polymorphism and aspirin is their effect on intracellular polyamine pools. </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 RECLASSIFIED - ODC1 POLYMORPHISM</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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ODC1, IVS1, +316G/A
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<br />
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SNP: rs2302615,
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gnomAD: rs2302615,
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ClinVar: RCV000014817, RCV004707851
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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>This variant, formerly titled COLONIC ADENOMA RECURRENCE, REDUCED RISK OF, has been reclassified as a polymorphism.</p><p>A G-A single-nucleotide polymorphism (SNP) is positioned between 2 E boxes in intron 1 at +316 of the ODC1 gene.</p><p><strong><em>Colonic Adenoma Recurrence, Reduced Risk of</em></strong></p><p>
|
|
Martinez et al. (2003) found that individuals homozygous for the minor ODC1 A allele who reported using aspirin were 0.10 times as likely to have an adenoma recurrence as non-aspirin users homozygous for the major G allele. MAD1 selectively suppressed the activity of the ODC1 promoter containing the A allele, but not the G allele, in a human colon cancer-derived cell line. Aspirin did not affect ODC1 allele-specific promoter activity but did activate polyamine catabolism and lower polyamine content in the same colon cancer-derived cell line. Martinez et al. (2003) suggested that the ODC1 polymorphism and aspirin act independently to reduce the risk of adenoma recurrence by suppressing synthesis and activating catabolism, respectively, of colonic mucosal polyamines. These findings confirm the hypothesis that the ODC1 polymorphism is a genetic marker for colon cancer risk, and support the use of ODC1 inhibitors and aspirin, or other nonsteroidal antiinflammatory drugs (NSAIDs), in combination as a strategy for colon cancer prevention. </p><p>Hamosh (2020) noted that this variant is present in 10,196 of 31,084 alleles and in 1,685 homozygotes in the gnomAD database (10/13/2020).</p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0002 BACHMANN-BUPP SYNDROME</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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ODC1, IVS11DS, G-T, +1
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<br />
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SNP: rs1671814748,
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ClinVar: RCV001263228
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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 7-year-old boy (patient 1) with Bachmann-Bupp syndrome (BABS; 619075), Rodan et al. (2018) identified a de novo heterozygous splice site mutation (c.1241+1G-T, NM_001287190.1) in intron 11 of the ODC1 gene. The mutation, which was identified by trio whole-exome sequencing, was predicted to destroy a canonical splice site. The resultant protein was predicted to escape nonsense-mediated decay and to have a truncated C terminus, leading to decreased protein degradation and a net increase in enzyme activity. The mutation was not present in the gnomAD database. Elevated N-acetylputrescine was demonstrated in patient plasma. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 BACHMANN-BUPP SYNDROME</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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ODC1, 2-BP DUP, 1240TG
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<br />
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SNP: rs1671814787,
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ClinVar: RCV001263229
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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 16-year-old girl (patient 2) with Bachmann-Bupp syndrome (BABS; 619075), Rodan et al. (2018) identified a de novo heterozygous 2-bp duplication (c.1240_1241dupTG, NM_001287190.1) in the ODC1 gene, resulting in a frameshift and an early termination codon (Trp414CysfsTer17). The mutation was identified by trio whole-exome sequencing. The resultant protein was predicted to escape nonsense-mediated decay and to have a truncated C terminus, leading to decreased protein degradation and a net increase in enzyme activity. </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 BACHMANN-BUPP SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
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ODC1, GLN419TER
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<br />
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|
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SNP: rs1671798353,
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|
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ClinVar: RCV001263230
|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 8-year-old boy (patient 3) with Bachmann-Bupp syndrome (BABS; 619075), Rodan et al. (2018) identified a de novo heterozygous c.1255C-T transition (c.1255C-T, NM_001287190.1), resulting in a gln419-to-ter (Q419X) substitution. The mutation was identified by trio whole-exome sequencing. The resultant protein was predicted to escape nonsense-mediated decay and to have a truncated C terminus, leading to decreased protein degradation and a net increase in enzyme activity. </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 BACHMANN-BUPP SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ODC1, 22-BP DEL, NT1242
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV001263231
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male infant who was stillborn at 34 weeks' gestation with Bachmann-Bupp syndrome (BABS; 619075), Rodan et al. (2018) identified a de novo heterozygous 22-bp deletion (c.1242_1263del22, NM_001287190.1) in the ODC1 gene, resulting in a trp414-to-ter (W414X) substitution. The mutation was identified by trio whole-exome sequencing. The resultant protein was predicted to escape nonsense-mediated decay and to have a truncated C terminus, leading to decreased protein degradation and a net increase in enzyme activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 BACHMANN-BUPP SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ODC1, LYS448TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1671794742,
|
|
|
|
|
|
|
|
ClinVar: RCV001263232
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 32-month-old girl with Bachmann-Bupp syndrome (BABS; 619075), Bupp et al. (2018) identified a de novo heterozygous c.1342A-T transversion (c.1342A-T, NM_001287190.1) in the ODC1 gene, resulting in a lys448-to-ter (K448X) substitution. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. Neither parent had the mutation. Molecular modeling suggested that due to lack of a C terminus in the mutant protein, antizyme binding does not induce degradation, which leads to accumulation of active ODC protein. Western blotting showed an elevation of ODC protein levels in patient red blood cells. Elevated putrescine was demonstrated in patient red blood cells. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
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|
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|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Alhonen-Hongisto et al. (1987); Brabant et al. (1988)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
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|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Alhonen-Hongisto, L., Leinonen, P., Sinervirta, R., Laine, R., Winqvist, R., Alitalo, K., Janne, O. A., Janne, J.
|
|
<strong>Mouse and human ornithine decarboxylase genes: methylation polymorphism and amplification.</strong>
|
|
Biochem. J. 242: 205-210, 1987.
|
|
|
|
|
|
[PubMed: 3036086]
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|
|
[Full Text: https://doi.org/10.1042/bj2420205]
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</p>
|
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</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brabant, M., McConlogue, L., van Daalen Wetters, T., Coffino, P.
|
|
<strong>Mouse ornithine decarboxylase gene: cloning, structure, and expression.</strong>
|
|
Proc. Nat. Acad. Sci. 85: 2200-2204, 1988.
|
|
|
|
|
|
[PubMed: 3353375]
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|
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[Full Text: https://doi.org/10.1073/pnas.85.7.2200]
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</p>
|
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</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Bupp, C. P., Schultz, C. R., Uhl, K. L., Rajasekaran, S., Bachmann, A. S.
|
|
<strong>Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features.</strong>
|
|
Am. J. Med. Genet. 176A: 2548-2553, 2018.
|
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|
|
[PubMed: 30239107]
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[Full Text: https://doi.org/10.1002/ajmg.a.40523]
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</p>
|
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</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Cox, D. R., Trouillot, T., Ashley, P. L., Brabant, M., Coffino, P.
|
|
<strong>A functional mouse ornithine decarboxylase gene (Odc) maps to chromosome 12: further evidence of homoeology between mouse chromosome 12 and the short arm of human chromosome 2.</strong>
|
|
Cytogenet. Cell Genet. 48: 92-94, 1988.
|
|
|
|
|
|
[PubMed: 3197454]
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|
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[Full Text: https://doi.org/10.1159/000132597]
|
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</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Guo, Y., Harris, R. B., Rosson, D., Boorman, D., O'Brien, T. G.
|
|
<strong>Functional analysis of human ornithine decarboxylase alleles.</strong>
|
|
Cancer Res. 60: 6314-6317, 2000.
|
|
|
|
|
|
[PubMed: 11103791]
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|
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</p>
|
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</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Hamosh, A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 10/13/2020.
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|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Hickok, N. J., Seppanen, P. J., Gunsalus, G. L., Janne, O. A.
|
|
<strong>Complete amino acid sequence of human ornithine decarboxylase deduced from complementary DNA.</strong>
|
|
DNA 6: 179-187, 1987.
|
|
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|
|
[PubMed: 3595418]
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|
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[Full Text: https://doi.org/10.1089/dna.1987.6.179]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Law, G. L., Itoh, H., Law, D. J., Mize, G. J., Merchant, J. L., Morris, D. R.
|
|
<strong>Transcription factor ZBP-89 regulates the activity of the ornithine decarboxylase promoter.</strong>
|
|
J. Biol. Chem. 273: 19955-19964, 1998.
|
|
|
|
|
|
[PubMed: 9685330]
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|
|
[Full Text: https://doi.org/10.1074/jbc.273.32.19955]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Martinez, M. E., O'Brien, T. G., Fultz, K. E., Babbar, N., Yerushalmi, H., Qu, N., Guo, Y., Boorman, D., Einspahr, J., Alberts, D. S., Gerner, E. W.
|
|
<strong>Pronounced reduction in adenoma recurrence associated with aspirin use and a polymorphism in the ornithine decarboxylase gene.</strong>
|
|
Proc. Nat. Acad. Sci. 100: 7859-7864, 2003.
|
|
|
|
|
|
[PubMed: 12810952]
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|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.1332465100]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pyronnet, S., Pradayrol, L., Sonenberg, N.
|
|
<strong>A cell cycle-dependent internal ribosome entry site.</strong>
|
|
Molec. Cell 5: 607-616, 2000.
|
|
|
|
|
|
[PubMed: 10882097]
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[Full Text: https://doi.org/10.1016/s1097-2765(00)80240-3]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Radford, D. M., Nakai, H., Byers, M. G., Eddy, R. L., Haley, L. L., Henry, W. M., Shows, T. B.
|
|
<strong>Mapping the ornithine decarboxylase gene (ODC1 and ODC2) to 2p25 and 7q31-qter, respectively. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 678 only, 1987.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rodan, L. H., Anyane-Yeboa, K., Chong, K., Wassink-Ruiter, J. S., Wilson, A., Smith, L., Kothare, S. V., Rajabi, F., Blaser, S., Ni, M., DeBerardinis, R. J., Poduri, A., Berry, G. T.
|
|
<strong>Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.</strong>
|
|
Am. J. Med. Genet. 176A: 2554-2560, 2018.
|
|
|
|
|
|
[PubMed: 30475435]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.60677]
|
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|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Villani, V., Coffino, P., D'Eustachio, P.
|
|
<strong>Linkage genetics of mouse ornithine decarboxylase (Odc).</strong>
|
|
Genomics 5: 636-638, 1989.
|
|
|
|
|
|
[PubMed: 2575591]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(89)90035-9]
|
|
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|
|
</p>
|
|
</li>
|
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|
<li>
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Walhout, A. J. M., Gubbels, J. M., Bernards, R., van der Vliet, P. C., Timmers, H. T. M.
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<strong>c-Myc/Max heterodimers bind cooperatively to the E-box sequences located in the first intron of the rat ornithine decarboxylase (ODC) gene.</strong>
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Nucleic Acids Res. 25: 1493-1501, 1997.
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[PubMed: 9162900]
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[Full Text: https://doi.org/10.1093/nar/25.8.1493]
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Winqvist, R., Makela, T. P., Seppanen, P., Janne, O. A., Alhonen-Hongisto, L., Janne, J., Grzeschik, K.-H., Alitalo, K.
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<strong>Human ornithine decarboxylase sequences map to chromosome regions 2pter-p23 and 7cen-qter but are not coamplified with the NMYC oncogene.</strong>
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Cytogenet. Cell Genet. 42: 133-140, 1986.
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[PubMed: 3755388]
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[Full Text: https://doi.org/10.1159/000132266]
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Yang-Feng, T. L., Barton, D. E., Thelander, L., Lewis, W. H., Srinivasan, P. R., Francke, U.
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<strong>Ribonucleotide reductase M2 subunit sequences mapped to four different chromosomal sites in humans and mice: functional locus identified by its amplification in hydroxyurea-resistant cell lines.</strong>
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Genomics 1: 77-86, 1987.
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[PubMed: 3311968]
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[Full Text: https://doi.org/10.1016/0888-7543(87)90108-x]
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Hilary J. Vernon - updated : 10/29/2020<br>Patricia A. Hartz - updated : 10/27/2003<br>Victor A. McKusick - updated : 7/16/2003<br>Stylianos E. Antonarakis - updated : 6/20/2000<br>Victor A. McKusick - edited : 3/7/1997
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Victor A. McKusick : 10/16/1986
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