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Entry
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- *116805 - CATENIN, ALPHA-1; CTNNA1
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- OMIM
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</form>
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*116805</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<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="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/116805">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000044115;t=ENST00000302763" 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=1495" 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=116805" 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=ENSG00000044115;t=ENST00000302763" 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_001290307,NM_001290309,NM_001290310,NM_001290312,NM_001323982,NM_001323983,NM_001323984,NM_001323985,NM_001323986,NM_001323987,NM_001323988,NM_001323989,NM_001323990,NM_001323991,NM_001323992,NM_001323993,NM_001323994,NM_001323995,NM_001323996,NM_001323997,NM_001323998,NM_001323999,NM_001324000,NM_001324001,NM_001324002,NM_001324003,NM_001324004,NM_001324005,NM_001324006,NM_001324007,NM_001324008,NM_001324009,NM_001324010,NM_001324011,NM_001324012,NM_001324013,NM_001903" 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_001903" 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=116805" 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=00285&isoform_id=00285_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/CTNNA1" 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/347316,404105,414982,433411,461853,1172426,4092761,12653233,21411495,55770844,57864640,119582526,119582527,119582528,193787624,194383886,194385506,194390806,308219176,333411218,594140506,594140512,594140533,594140555,1022427313,1022428963,1022430577,1022430584,1022431641,1022431656,1022432088,1022432123,1022432446,1022433159,1022433203,1022433224,1022433955,1022433998,1022434283,1022434686,1022434718,1022434816,1022434845,1022435198,1022436023,1022436035,1022436098,1022436130,1022436143,1022437052,1022437455,1022438018,1022438037,1022438061,1022438421,1022438446,2462600731" 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/P35221" 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=1495" 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=ENSG00000044115;t=ENST00000302763" 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=CTNNA1" 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=CTNNA1" 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+1495" 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/CTNNA1" 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:1495" 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/1495" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr5&hgg_gene=ENST00000302763.12&hgg_start=138753425&hgg_end=138935034&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2509" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2509" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=116805[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=116805[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000044115" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=CTNNA1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=CTNNA1" 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=CTNNA1" 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=CTNNA1&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/PA27008" 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:2509" 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/FBgn0010215.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:88274" 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/CTNNA1#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:88274" 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/1495/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=1495" 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=WBGene00001978;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-991207-24" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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:1495" 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=CTNNA1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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116805
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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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CATENIN, ALPHA-1; CTNNA1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
ALPHA-E-CATENIN<br />
|
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CADHERIN-ASSOCIATED PROTEIN
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CTNNA1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CTNNA1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/5/513?start=-3&limit=10&highlight=513">5q31.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:138753425-138935034&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">5:138,753,425-138,935,034</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
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|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
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|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/513?start=-3&limit=10&highlight=513">
|
|
5q31.2
|
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</a>
|
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</span>
|
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</td>
|
|
|
|
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|
<td>
|
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<span class="mim-font">
|
|
Macular dystrophy, patterned, 2
|
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|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/608970"> 608970 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<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>
|
|
</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>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<strong>TEXT</strong>
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<p>E-cadherin is a transmembrane glycoprotein responsible for physical connection of epithelial cells through Ca(2+)-binding regions in its extracellular domain. E-cadherin-mediated cell-cell adhesion is effected by 3 cytoplasmic proteins known as catenins alpha, beta (see <a href="/entry/116806">116806</a>), and gamma. These catenins are thought to work as connectors that anchor the E-cadherin to the cytoskeletal actin bundle through the cadherin cytoplasmic domain. Dysfunction of this adhesion complex causes dissociation of cancer cells from primary tumor nodules, thus possibly contributing to cancer invasion and metastasis. <a href="#5" class="mim-tip-reference" title="Herrenknecht, K., Ozawa, M., Eckerskorn, C., Lottspeich, F., Lenter, M., Kemler, R. <strong>The uvomorulin-anchorage protein alpha-catenin is a vinculin homologue.</strong> Proc. Nat. Acad. Sci. 88: 9156-9160, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1924379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1924379</a>] [<a href="https://doi.org/10.1073/pnas.88.20.9156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1924379">Herrenknecht et al. (1991)</a> and <a href="#11" class="mim-tip-reference" title="Nagafuchi, A., Takeichi, M., Tsukita, S. <strong>The 102 kd cadherin-associated protein: similarity to vinculin and posttranscriptional regulation of expression.</strong> Cell 65: 849-857, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1904011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1904011</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90392-c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1904011">Nagafuchi et al. (1991)</a> isolated a murine cDNA encoding the 102-kD alpha-catenin (CAP102). <a href="#13" class="mim-tip-reference" title="Oda, T., Kanai, Y., Shimoyama, Y., Nagafuchi, A., Tsukita, S., Hirohashi, S. <strong>Cloning of the human alpha-catenin cDNA and its aberrant mRNA in a human cancer cell line.</strong> Biochem. Biophys. Res. Commun. 193: 897-904, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8323564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8323564</a>] [<a href="https://doi.org/10.1006/bbrc.1993.1710" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8323564">Oda et al. (1993)</a> cloned and sequenced human alpha-catenin. They found that it shows extensive homology with that of the mouse. <a href="#6" class="mim-tip-reference" title="Hirano, S., Kimoto, N., Shimoyama, Y., Hirohashi, S., Takeichi, M. <strong>Identification of a neural alpha-catenin as a key regulator of cadherin function and multicellular organization.</strong> Cell 70: 293-301, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1638632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1638632</a>] [<a href="https://doi.org/10.1016/0092-8674(92)90103-j" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1638632">Hirano et al. (1992)</a> and <a href="#17" class="mim-tip-reference" title="Shimoyama, Y., Nagafuchi, A., Fujita, S., Gotoh, M., Takeichi, M., Tsukita, S., Hirohashi, S. <strong>Cadherin dysfunction in a human cancer cell line: possible involvement of loss of alpha-catenin expression in reduced cell-cell adhesiveness.</strong> Cancer Res. 52: 5770-5774, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1394201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1394201</a>]" pmid="1394201">Shimoyama et al. (1992)</a> showed that a human lung cancer cell line, PC9, which expresses E-cadherin but only a small quantity of abnormal-sized alpha-catenin, grew initially as isolated cells and then regained its cell-cell adhesion potential when transfected with alpha-catenin. <a href="#13" class="mim-tip-reference" title="Oda, T., Kanai, Y., Shimoyama, Y., Nagafuchi, A., Tsukita, S., Hirohashi, S. <strong>Cloning of the human alpha-catenin cDNA and its aberrant mRNA in a human cancer cell line.</strong> Biochem. Biophys. Res. Commun. 193: 897-904, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8323564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8323564</a>] [<a href="https://doi.org/10.1006/bbrc.1993.1710" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8323564">Oda et al. (1993)</a> found 2 abnormal mRNA sequences of alpha-catenin in PC9; one was a 957-bp deletion resulting in a 319-amino acid deletion and another was a 761-bp deletion resulting in a frameshift. The deletions were thought to be responsible for the loss of alpha-catenin expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1638632+1394201+1904011+8323564+1924379" 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="Furukawa, Y., Nakatsuru, S., Nagafuchi, A., Tsukita, S., Muto, T., Nakamura, Y., Horii, A. <strong>Structure, expression and chromosome assignment of the human catenin (cadherin-associated protein) alpha 1 gene (CTNNA1).</strong> Cytogenet. Cell Genet. 65: 74-78, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8404069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8404069</a>] [<a href="https://doi.org/10.1159/000133603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8404069">Furukawa et al. (1994)</a> determined that the CTNNA1 gene encodes 906 amino acids. The 102-kD predicted protein is the same size as the murine homolog, and the amino acid sequences of the 2 proteins are 99.2% homologous. Analysis by reverse transcription-PCR demonstrated that the gene is expressed ubiquitously in normal tissues. The gene is expressed as a 3.4-kb transcript. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8404069" 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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In adherens junctions, alpha-catenin links the cadherin/beta-catenin complex to the actin-based cytoskeleton. Alpha-catenin is a homodimer in solution, but forms a 1:1 heterodimer with beta-catenin. <a href="#14" class="mim-tip-reference" title="Pokutta, S., Weis, W. I. <strong>Structure of the dimerization and beta-catenin-binding region of alpha-catenin.</strong> Molec. Cell 5: 533-543, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10882138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10882138</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80447-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10882138">Pokutta and Weis (2000)</a> determined the crystal structure of the alpha-catenin dimerization domain, residues 82 to 279. The crystal structure showed that alpha-catenin dimerizes through formation of a 4-helix bundle in which 2 antiparallel helices are contributed by each protomer. A slightly larger fragment, containing residues 57 to 264, bound to beta-catenin. The crystal structure of a chimera consisting of the alpha-catenin-binding region of beta-catenin linked to the N terminus of alpha-catenin residues 57 to 264 revealed the interaction between alpha- and beta-catenin and provided a basis for understanding adherens junction assembly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10882138" 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="mim-changed mim-change"><p><a href="#3" class="mim-tip-reference" title="Furukawa, Y., Nakatsuru, S., Nagafuchi, A., Tsukita, S., Muto, T., Nakamura, Y., Horii, A. <strong>Structure, expression and chromosome assignment of the human catenin (cadherin-associated protein) alpha 1 gene (CTNNA1).</strong> Cytogenet. Cell Genet. 65: 74-78, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8404069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8404069</a>] [<a href="https://doi.org/10.1159/000133603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8404069">Furukawa et al. (1994)</a> showed that the CTNNA1 gene contains 16 coding exons and at least one 5-prime noncoding exon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8404069" 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></div>
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<p>By fluorescence in situ hybridization, <a href="#3" class="mim-tip-reference" title="Furukawa, Y., Nakatsuru, S., Nagafuchi, A., Tsukita, S., Muto, T., Nakamura, Y., Horii, A. <strong>Structure, expression and chromosome assignment of the human catenin (cadherin-associated protein) alpha 1 gene (CTNNA1).</strong> Cytogenet. Cell Genet. 65: 74-78, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8404069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8404069</a>] [<a href="https://doi.org/10.1159/000133603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8404069">Furukawa et al. (1994)</a> mapped the CTNNA1 gene to 5q31. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8404069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="McPherson, J. D., Morton, R. A., Ewing, C. M., Wasmuth, J. J., Overhauser, J., Nagafuchi, A., Tsukita, S., Isaacs, W. B. <strong>Assignment of the human alpha-catenin gene (CTNNA1) to chromosome 5q21-q22.</strong> Genomics 19: 188-190, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188230</a>] [<a href="https://doi.org/10.1006/geno.1994.1042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8188230">McPherson et al. (1994)</a> sequenced partial alpha-catenin cDNAs from a human prostate cDNA library and used these data to map the CTNNA1 gene by PCR analysis of a panel of somatic cell hybrids carrying various deletions. They concluded that the gene was located in the segment between mid 5q21 and distal 5q22. The discrepancy was resolved by <a href="#12" class="mim-tip-reference" title="Nollet, F., van Hengel, J., Berx, G., Molemans, F., van Roy, F. <strong>Isolation and characterization of a human pseudogene (CTNNAP1) for alpha-E-catenin (CTNNA1): assignment of the pseudogene to 5q22 and the alpha-E-catenin gene to 5q31.</strong> Genomics 26: 410-413, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7601473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7601473</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80231-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7601473">Nollet et al. (1995)</a>, who characterized a catenin processed pseudogene (CTNNAP1) which shows 90% nucleotide sequence identity to the catenin functional gene (CTNNA1). The authors mapped the pseudogene to 5q22 and the functional gene to 5q31 by fluorescence in situ hybridization. <a href="#4" class="mim-tip-reference" title="Guenet, J.-L., Simon-Chazottes, D., Ringwald, M., Kemler, R. <strong>The genes coding for alpha and beta catenin (Catna1 and Catnb) and plakoglobin (Jup) map to mouse chromosomes 18, 9, and 11, respectively.</strong> Mammalian Genome 6: 363-366, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7626889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7626889</a>] [<a href="https://doi.org/10.1007/BF00364802" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7626889">Guenet et al. (1995)</a> mapped the corresponding mouse gene (symbolized Catna1) to chromosome 18 by analysis of the segregation pattern of informative DNA polymorphisms among the progeny of 2 interspecific backcrosses. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7601473+7626889+8188230" 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="#19" class="mim-tip-reference" title="Vasioukhin, V., Bauer, C., Degenstein, L., Wise, B., Fuchs, E. <strong>Hyperproliferation and defects in epithelial polarity upon conditional ablation of alpha-catenin in skin.</strong> Cell 104: 605-617, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11239416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11239416</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00246-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11239416">Vasioukhin et al. (2001)</a> examined the consequences of alpha-catenin protein ablation in otherwise normal newborn mice. When surface epithelium alpha-catenin was ablated, hair follicle development was blocked and epidermal morphogenesis was dramatically affected, with defects in adherens junction formation, intercellular adhesion, and epithelial polarity. Differentiation occurred, but epidermis displayed hyperproliferation, suprabasal mitoses, and multinucleated cells. In vitro, alpha-catenin null keratinocytes were poorly contact inhibited and grew rapidly. These differences were not dependent upon intercellular adhesion and were in marked contrast to keratinocytes conditionally null for another essential intercellular adhesion protein, desmoplakin (DSP; <a href="/entry/125647">125647</a>). Knockout keratinocytes exhibited sustained activation of the Ras-MAPK cascade due to aberrations in growth factor responses. The authors concluded that features of precancerous lesions often attributed to defects in cell cycle regulatory genes can be generated by compromising the function of alpha-catenin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11239416" 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="#18" class="mim-tip-reference" title="Van Aken, E. H., Papeleu, P., De Potter, P., Bruyneel, E., Philippe, J., Seregard, S., Kvanta, A., De Laey, J.-J., Mareel, M. M. <strong>Structure and function of the N-cadherin/catenin complex in retinoblastoma.</strong> Invest. Ophthal. Vis. Sci. 43: 595-602, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11867572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11867572</a>]" pmid="11867572">Van Aken et al. (2002)</a> studied the cadherin-catenin complex in retinoblastoma and normal retina tissues. In both cases, they found that N-cadherin (<a href="/entry/114020">114020</a>) was associated with alpha- and beta-catenin but not with E- or P-cadherin. Moreover, retinoblastoma cells, in contrast with normal retina, expressed an N-cadherin/catenin complex that was irregularly distributed and weakly linked to the cytoskeleton. In retinoblastoma, this complex acted as an invasion promoter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11867572" 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><strong><em>Patterned Macular Dystrophy 2</em></strong></p><p>
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In affected individuals from 3 unrelated families with patterned macular dystrophy-2 (MDPT2; <a href="/entry/608970">608970</a>), <a href="#15" class="mim-tip-reference" title="Saksens, N. T. M., Krebs, M. P., Schoenmaker-Koller, F. E., Hicks, W., Yu, M., Shi, L., Rowe, L., Collin, G. B., Charette, J. R., Letteboer, S. J., Neveling, K., van Moorsel, T. W., and 13 others. <strong>Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.</strong> Nature Genet. 48: 144-151, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26691986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26691986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26691986[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26691986">Saksens et al. (2016)</a> identified heterozygosity for missense mutations in the CTNNA1 gene (<a href="#0001">116805.0001</a>-<a href="#0003">116805.0003</a>) that segregated with disease and were not found in controls or the Exome Variant Server database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26691986" 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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Interstitial deletion of all or part of chromosome 5q is a frequent clonal chromosomal abnormality in human myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Using primitive leukemia-initiating cells from individuals with MDS or AML, with or without a chromosome 5q deletion, <a href="#9" class="mim-tip-reference" title="Liu, T. X., Becker, M. W., Jelinek, J., Wu, W.-S., Deng, M., Mikhalkevich, N., Hsu, K., Bloomfield, C. D., Stone, R. M., DeAngelo, D. J., Galinsky, I. A., Issa, J.-P., Clarke, M. F., Look, A. T. <strong>Chromosome 5q deletion and epigenetic suppression of the gene encoding alpha-catenin (CTNNA1) in myeloid cell transformation.</strong> Nature Med. 13: 78-83, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17159988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17159988</a>] [<a href="https://doi.org/10.1038/nm1512" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17159988">Liu et al. (2007)</a> analyzed the expression of 12 genes within the 5q31 common deleted region and found that CTNNA1 was expressed at a much lower level in cells from individuals with a 5q deletion than in cells from those without a 5q deletion or in normal hematopoietic cells. Analysis of HL-60 myeloid leukemia cells with deletion of the 5q31 region showed that the CTNNA1 promoter of the retained allele was suppressed by both methylation and histone deacetylation. Restoration of CTNNA1 expression in HL-60 cells resulted in reduced proliferation and apoptotic cell death. <a href="#9" class="mim-tip-reference" title="Liu, T. X., Becker, M. W., Jelinek, J., Wu, W.-S., Deng, M., Mikhalkevich, N., Hsu, K., Bloomfield, C. D., Stone, R. M., DeAngelo, D. J., Galinsky, I. A., Issa, J.-P., Clarke, M. F., Look, A. T. <strong>Chromosome 5q deletion and epigenetic suppression of the gene encoding alpha-catenin (CTNNA1) in myeloid cell transformation.</strong> Nature Med. 13: 78-83, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17159988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17159988</a>] [<a href="https://doi.org/10.1038/nm1512" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17159988">Liu et al. (2007)</a> concluded that loss of the CTNNA1 tumor suppressor gene in hematopoietic stem cells may provide a growth advantage that contributes to human MDS/AML with 5q deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17159988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Ding, L., Ellis, M. J., Li, S., Larson, D. E., Chen, K., Wallis, J. W., Harris, C. C., McLellan, M. D., Fulton, R. S., Fulton, L. L., Abbott, R. M., Hoog, J., and 57 others. <strong>Genome remodelling in a basal-like breast cancer metastasis and xenograft.</strong> Nature 464: 999-1005, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20393555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20393555</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20393555[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20393555">Ding et al. (2010)</a> described the genomic analyses of 4 DNA samples from an African American patient with basal-like breast cancer: peripheral blood, the primary tumor, a brain metastasis, and a xenograft derived from the primary tumor. The metastasis contained 2 de novo mutations and a large deletion not present in the primary tumor, and was significantly enriched for 20 shared mutations. The xenograft retained all primary tumor mutations and displayed a mutation enrichment pattern that resembled the metastasis. Two overlapping large deletions encompassing CTNNA1 were present in all 3 tumor samples. The differential mutation frequencies and structural variation patterns in metastasis and xenograft compared with the primary tumor indicated that secondary tumors may arise from a minority of cells with the primary tumor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20393555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Lien, W.-H., Klezovitch, O., Fernandez, T. E., Delrow, J., Vasioukhin, V. <strong>Alpha-E-catenin controls cerebral cortical size by regulating the hedgehog signaling pathway.</strong> Science 311: 1609-1612, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16543460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16543460</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16543460[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/10.1126/science.1121449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16543460">Lien et al. (2006)</a> found that neural progenitors express alpha-E catenin while differentiated neurons express alpha-N catenin (<a href="/entry/114025">114025</a>). To study the role of alpha-E catenin in the central nervous system (CNS), <a href="#8" class="mim-tip-reference" title="Lien, W.-H., Klezovitch, O., Fernandez, T. E., Delrow, J., Vasioukhin, V. <strong>Alpha-E-catenin controls cerebral cortical size by regulating the hedgehog signaling pathway.</strong> Science 311: 1609-1612, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16543460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16543460</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16543460[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/10.1126/science.1121449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16543460">Lien et al. (2006)</a> created CNS-specific deletion of alpha-E catenin. Heterozygotes were similar to wildtype littermates. At embryonic day 12.5 alpha-E catenin-null mice were indistinguishable from their littermates, but by embryonic day 13.5 mutant brains displayed a 40% increase in total cell numbers. At birth, these pups were born with small bodies and enlarged heads; after birth the heads of these animals continued to grow but their bodies were developmentally retarded. Pups failed to thrive and died between 2 and 3 weeks of age. Histologic analysis of alpha-E catenin-null brains revealed severe dysplasia and hyperplasia. The ventricular zone cells were dispersed throughout the developing brains, forming invasive tumor-like masses that displayed widespread pseudopalisading and the formation of rosettes similar to Homer-Wright rosettes in human medulloblastoma, neuroblastoma, retinoblastoma, pineoblastoma, neurocytoma, and pineocytoma tumors. Alpha-E catenin-null embryos had a prominent increase in the thickness and size of the cerebral cortex. There was massive expansion of dysplastic cortical progenitor cells, causing a posterior and ventral shift in localization of the lateral ventricle. <a href="#8" class="mim-tip-reference" title="Lien, W.-H., Klezovitch, O., Fernandez, T. E., Delrow, J., Vasioukhin, V. <strong>Alpha-E-catenin controls cerebral cortical size by regulating the hedgehog signaling pathway.</strong> Science 311: 1609-1612, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16543460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16543460</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16543460[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/10.1126/science.1121449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16543460">Lien et al. (2006)</a> found that the hyperplasia in alpha-E catenin-null brains was the combined outcome of the shortening of the cell cycle and decreased apoptosis in neural progenitor cells. Using a microarray approach, <a href="#8" class="mim-tip-reference" title="Lien, W.-H., Klezovitch, O., Fernandez, T. E., Delrow, J., Vasioukhin, V. <strong>Alpha-E-catenin controls cerebral cortical size by regulating the hedgehog signaling pathway.</strong> Science 311: 1609-1612, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16543460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16543460</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16543460[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/10.1126/science.1121449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16543460">Lien et al. (2006)</a> determined that only 5 transcripts were upregulated and 3 downregulated in alpha-E catenin-null brains. The 2 most upregulated cDNAs, Fgf15 (see <a href="/entry/603891">603891</a>) and Gli1 (<a href="/entry/165220">165220</a>), are transcriptional targets of the hedgehog (see <a href="/entry/600725">600725</a>) pathway. Quantitative RT-PCR showed significant upregulation of Gli1, Fgf15, and Smoothened (<a href="/entry/601500">601500</a>). <a href="#8" class="mim-tip-reference" title="Lien, W.-H., Klezovitch, O., Fernandez, T. E., Delrow, J., Vasioukhin, V. <strong>Alpha-E-catenin controls cerebral cortical size by regulating the hedgehog signaling pathway.</strong> Science 311: 1609-1612, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16543460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16543460</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16543460[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/10.1126/science.1121449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16543460">Lien et al. (2006)</a> proposed that alpha-E catenin connects cell density-dependent adherens junctions with the developmental hedgehog pathway and that this connection may provide a negative feedback loop controlling the size of developing cerebral cortex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16543460" 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="Shibata, H., Takano, H., Ito, M., Shioya, H., Hirota, M., Matsumoto, H., Kakudo, Y., Ishioka, C., Akiyama, T., Kanegae, Y., Saito, I., Noda, T. <strong>Alpha-catenin is essential in intestinal adenoma formation.</strong> Proc. Nat. Acad. Sci. 104: 18199-18204, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17989230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17989230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17989230[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.0705730104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17989230">Shibata et al. (2007)</a> generated several familial adenomatous polyposis (FAP; <a href="/entry/175100">175100</a>) mouse lines heterozygous for a ser580-to-asp (S580D) truncation mutation in the Apc gene (<a href="/entry/611731">611731</a>) and found that 1 line (line 19) showed reduced incidence of intestinal adenomas (less than 5% compared with other lines). They identified a deletion in the Ctnna1 gene as the cause of tumor suppression in line-19 Apc S580D/+ mice and found that suppression only occurred when the Ctnna1 deletion was in cis configuration with the Apc S580D mutation. In all adenomas generated in line-19 Apc S580D/+ mice, somatic recombination between Apc and Ctnna1 retained the wildtype Ctnna1 allele. <a href="#16" class="mim-tip-reference" title="Shibata, H., Takano, H., Ito, M., Shioya, H., Hirota, M., Matsumoto, H., Kakudo, Y., Ishioka, C., Akiyama, T., Kanegae, Y., Saito, I., Noda, T. <strong>Alpha-catenin is essential in intestinal adenoma formation.</strong> Proc. Nat. Acad. Sci. 104: 18199-18204, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17989230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17989230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17989230[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.0705730104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17989230">Shibata et al. (2007)</a> concluded that simultaneous inactivation of Ctnna1 and Apc during tumor initiation suppressed adenoma formation in line-19 Apc S580D/+ mice, suggesting that CTNNA1 plays an essential role in initiation of intestinal adenomas. They noted that evidence from human colon tumors with invasive or metastatic potential had established a tumor-suppressive role for CTNNA1 in late-stage tumorigenesis. Thus, <a href="#16" class="mim-tip-reference" title="Shibata, H., Takano, H., Ito, M., Shioya, H., Hirota, M., Matsumoto, H., Kakudo, Y., Ishioka, C., Akiyama, T., Kanegae, Y., Saito, I., Noda, T. <strong>Alpha-catenin is essential in intestinal adenoma formation.</strong> Proc. Nat. Acad. Sci. 104: 18199-18204, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17989230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17989230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17989230[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.0705730104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17989230">Shibata et al. (2007)</a> suggested that CTNNA1 has dual roles in intestinal tumorigenesis: a supporting role in tumor initiation and a suppressive role in tumor progression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17989230" 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="Li, J., Goossens, S., van Hengel, J., Gao, E., Cheng, L., Tyberghein, K., Shang, X., De Rycke, R., van Roy, F., Radice, G. L. <strong>Loss of alpha-T-catenin alters the hybrid adhering junctions in the heart and leads to dilated cardiomyopathy and ventricular arrhythmia following acute ischemia.</strong> J. Cell Sci. 125: 1058-1067, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22421363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22421363</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22421363[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/10.1242/jcs.098640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22421363">Li et al. (2012)</a> observed progressive dilated cardiomyopathy approximately 8 months after induction of Ctnna1 deletion in mice. Increased expression of Ctnna3 (<a href="/entry/607667">607667</a>) at 3 months postinduction suggested that Ctnna3 may compensate, at least in part, for loss of Ctnna1 in mouse heart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22421363" 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="#15" class="mim-tip-reference" title="Saksens, N. T. M., Krebs, M. P., Schoenmaker-Koller, F. E., Hicks, W., Yu, M., Shi, L., Rowe, L., Collin, G. B., Charette, J. R., Letteboer, S. J., Neveling, K., van Moorsel, T. W., and 13 others. <strong>Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.</strong> Nature Genet. 48: 144-151, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26691986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26691986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26691986[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26691986">Saksens et al. (2016)</a> identified a Ctnna1 missense mutation (L436P) in a chemically induced mouse mutant, tvrm5, and observed changes in the retinal pigment epithelium (RPE) parallel to those of patients with butterfly-shaped pigment dystrophy, including pigmentary abnormalities, focal thickening and elevated lesions, and decreased light-activated responses. Morphologic studies in tvrm5 mice demonstrated increased cell shedding and the presence of large multinucleated RPE cells, suggesting defects in intercellular adhesion and cytokinesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26691986" 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">rs869320696 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869320696;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=rs869320696" 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=rs869320696" 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=RCV000210752" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210752" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210752</a>
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<p>In affected members of a large Dutch family with patterned macular dystrophy-2 (MDPT2; <a href="/entry/608970">608970</a>), originally described by <a href="#1" class="mim-tip-reference" title="Deutman, A. F., van Blommestein, J. D. A., Henkes, H. E., Waardenburg, P. J., Solleveld-van Driest, E. <strong>Butterfly-shaped pigment dystrophy of the fovea.</strong> Arch. Ophthal. 83: 558-569, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5442145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5442145</a>] [<a href="https://doi.org/10.1001/archopht.1970.00990030558006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5442145">Deutman et al. (1970)</a>, <a href="#15" class="mim-tip-reference" title="Saksens, N. T. M., Krebs, M. P., Schoenmaker-Koller, F. E., Hicks, W., Yu, M., Shi, L., Rowe, L., Collin, G. B., Charette, J. R., Letteboer, S. J., Neveling, K., van Moorsel, T. W., and 13 others. <strong>Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.</strong> Nature Genet. 48: 144-151, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26691986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26691986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26691986[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26691986">Saksens et al. (2016)</a> identified heterozygosity for a c.953T-C transition (c.953T-C, NM_001903) in the CTNNA1 gene, resulting in a leu318-to-ser (L318S) substitution at a residue conserved among vertebrates. The mutation segregated with disease in the family and was not found in 162 ancestry-matched controls or in the Exome Variant Server database. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26691986+5442145" 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>.0002 MACULAR DYSTROPHY, PATTERNED, 2</strong>
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CTNNA1, ILE431MET
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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> rs755215402 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs755215402;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/rs755215402?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=rs755215402" 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=rs755215402" 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=RCV000210749 OR RCV002381724 OR RCV005090049" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210749, RCV002381724, RCV005090049" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210749...</a>
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<p>In a Dutch mother and son with patterned macular dystrophy-2 (MDPT2; <a href="/entry/608970">608970</a>), <a href="#15" class="mim-tip-reference" title="Saksens, N. T. M., Krebs, M. P., Schoenmaker-Koller, F. E., Hicks, W., Yu, M., Shi, L., Rowe, L., Collin, G. B., Charette, J. R., Letteboer, S. J., Neveling, K., van Moorsel, T. W., and 13 others. <strong>Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.</strong> Nature Genet. 48: 144-151, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26691986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26691986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26691986[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26691986">Saksens et al. (2016)</a> identified heterozygosity for a c.1293T-G transversion (c.1293T-G, NM_001903) in exon 9 of the CTNNA1 gene, resulting in an ile431-to-met (I431M) substitution at a residue conserved among vertebrates. The mutation was not found in 162 ancestry-matched controls or in the Exome Variant Server database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26691986" 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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CTNNA1, GLU307LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs869320697 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869320697;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=rs869320697" 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=rs869320697" 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=RCV000210750" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210750" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210750</a>
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<span class="mim-text-font">
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<p>In a Belgian mother and daughter with patterned macular dystrophy-2 (MDPT2; <a href="/entry/608970">608970</a>), <a href="#15" class="mim-tip-reference" title="Saksens, N. T. M., Krebs, M. P., Schoenmaker-Koller, F. E., Hicks, W., Yu, M., Shi, L., Rowe, L., Collin, G. B., Charette, J. R., Letteboer, S. J., Neveling, K., van Moorsel, T. W., and 13 others. <strong>Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.</strong> Nature Genet. 48: 144-151, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26691986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26691986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26691986[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26691986">Saksens et al. (2016)</a> identified heterozygosity for a c.919G-A transition (c.919G-A, NM_001903) in exon 7 of the CTNNA1 gene, resulting in a glu307-to-lys (E307K) substitution at a residue conserved among vertebrates. The mutation was not found in 162 ancestry-matched controls or in the Exome Variant Server database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26691986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Deutman1970" class="mim-anchor"></a>
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Deutman, A. F., van Blommestein, J. D. A., Henkes, H. E., Waardenburg, P. J., Solleveld-van Driest, E.
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<strong>Butterfly-shaped pigment dystrophy of the fovea.</strong>
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Arch. Ophthal. 83: 558-569, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5442145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5442145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5442145" 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/10.1001/archopht.1970.00990030558006" target="_blank">Full Text</a>]
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Ding, L., Ellis, M. J., Li, S., Larson, D. E., Chen, K., Wallis, J. W., Harris, C. C., McLellan, M. D., Fulton, R. S., Fulton, L. L., Abbott, R. M., Hoog, J., and 57 others.
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<strong>Genome remodelling in a basal-like breast cancer metastasis and xenograft.</strong>
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Nature 464: 999-1005, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20393555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20393555</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20393555[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=20393555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature08989" target="_blank">Full Text</a>]
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Furukawa, Y., Nakatsuru, S., Nagafuchi, A., Tsukita, S., Muto, T., Nakamura, Y., Horii, A.
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<strong>Structure, expression and chromosome assignment of the human catenin (cadherin-associated protein) alpha 1 gene (CTNNA1).</strong>
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Cytogenet. Cell Genet. 65: 74-78, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8404069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8404069</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8404069" 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/10.1159/000133603" target="_blank">Full Text</a>]
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Guenet, J.-L., Simon-Chazottes, D., Ringwald, M., Kemler, R.
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<strong>The genes coding for alpha and beta catenin (Catna1 and Catnb) and plakoglobin (Jup) map to mouse chromosomes 18, 9, and 11, respectively.</strong>
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Mammalian Genome 6: 363-366, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7626889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7626889</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7626889" 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/10.1007/BF00364802" target="_blank">Full Text</a>]
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Herrenknecht, K., Ozawa, M., Eckerskorn, C., Lottspeich, F., Lenter, M., Kemler, R.
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<strong>The uvomorulin-anchorage protein alpha-catenin is a vinculin homologue.</strong>
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Proc. Nat. Acad. Sci. 88: 9156-9160, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1924379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1924379</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1924379" 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.88.20.9156" target="_blank">Full Text</a>]
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Hirano, S., Kimoto, N., Shimoyama, Y., Hirohashi, S., Takeichi, M.
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<strong>Identification of a neural alpha-catenin as a key regulator of cadherin function and multicellular organization.</strong>
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Cell 70: 293-301, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1638632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1638632</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1638632" 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/10.1016/0092-8674(92)90103-j" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1242/jcs.098640" target="_blank">Full Text</a>]
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<strong>Alpha-E-catenin controls cerebral cortical size by regulating the hedgehog signaling pathway.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16543460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16543460</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16543460[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=16543460" 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/10.1126/science.1121449" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/nm1512" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1994.1042" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(91)90392-c" target="_blank">Full Text</a>]
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<strong>Isolation and characterization of a human pseudogene (CTNNAP1) for alpha-E-catenin (CTNNA1): assignment of the pseudogene to 5q22 and the alpha-E-catenin gene to 5q31.</strong>
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Genomics 26: 410-413, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7601473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7601473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7601473" 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(95)80231-a" target="_blank">Full Text</a>]
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<strong>Cloning of the human alpha-catenin cDNA and its aberrant mRNA in a human cancer cell line.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8323564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8323564</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8323564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.1993.1710" target="_blank">Full Text</a>]
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<strong>Structure of the dimerization and beta-catenin-binding region of alpha-catenin.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10882138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10882138</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10882138" 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)80447-5" target="_blank">Full Text</a>]
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<a id="Saksens2016" class="mim-anchor"></a>
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Saksens, N. T. M., Krebs, M. P., Schoenmaker-Koller, F. E., Hicks, W., Yu, M., Shi, L., Rowe, L., Collin, G. B., Charette, J. R., Letteboer, S. J., Neveling, K., van Moorsel, T. W., and 13 others.
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<strong>Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.</strong>
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Nature Genet. 48: 144-151, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26691986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26691986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26691986[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=26691986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.3474" target="_blank">Full Text</a>]
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Shibata, H., Takano, H., Ito, M., Shioya, H., Hirota, M., Matsumoto, H., Kakudo, Y., Ishioka, C., Akiyama, T., Kanegae, Y., Saito, I., Noda, T.
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<strong>Alpha-catenin is essential in intestinal adenoma formation.</strong>
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Proc. Nat. Acad. Sci. 104: 18199-18204, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17989230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17989230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17989230[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=17989230" 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.0705730104" target="_blank">Full Text</a>]
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<strong>Cadherin dysfunction in a human cancer cell line: possible involvement of loss of alpha-catenin expression in reduced cell-cell adhesiveness.</strong>
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Cancer Res. 52: 5770-5774, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1394201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1394201</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1394201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Van Aken, E. H., Papeleu, P., De Potter, P., Bruyneel, E., Philippe, J., Seregard, S., Kvanta, A., De Laey, J.-J., Mareel, M. M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11867572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11867572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11867572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Vasioukhin, V., Bauer, C., Degenstein, L., Wise, B., Fuchs, E.
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<strong>Hyperproliferation and defects in epithelial polarity upon conditional ablation of alpha-catenin in skin.</strong>
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Cell 104: 605-617, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11239416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11239416</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11239416" 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/s0092-8674(01)00246-x" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Marla J. F. O'Neill - updated : 04/08/2016
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Patricia A. Hartz - updated : 12/12/2014<br>Ada Hamosh - updated : 5/10/2010<br>Patricia A. Hartz - updated : 4/9/2008<br>Marla J. F. O'Neill - updated : 2/27/2007<br>Ada Hamosh - updated : 4/14/2006<br>Jane Kelly - updated : 11/7/2002<br>Stylianos E. Antonarakis - updated : 3/6/2001<br>Stylianos E. Antonarakis - updated : 6/9/2000<br>Alan F. Scott - updated : 10/11/1995
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Victor A. McKusick : 9/2/1993
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alopez : 04/08/2016<br>mgross : 12/15/2014<br>mcolton : 12/12/2014<br>alopez : 5/10/2010<br>alopez : 5/10/2010<br>mgross : 4/11/2008<br>terry : 4/9/2008<br>wwang : 2/28/2007<br>wwang : 2/27/2007<br>alopez : 4/18/2006<br>alopez : 4/18/2006<br>terry : 4/14/2006<br>carol : 3/28/2003<br>carol : 11/7/2002<br>carol : 11/7/2002<br>mgross : 3/6/2001<br>mgross : 6/9/2000<br>mgross : 6/9/2000<br>dkim : 9/11/1998<br>dkim : 6/30/1998<br>terry : 4/17/1996<br>mark : 3/7/1996<br>mark : 6/15/1995<br>carol : 2/9/1994<br>carol : 12/16/1993<br>carol : 10/26/1993<br>carol : 9/15/1993
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</span>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="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> 116805
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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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CATENIN, ALPHA-1; CTNNA1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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ALPHA-E-CATENIN<br />
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CADHERIN-ASSOCIATED PROTEIN
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CTNNA1</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>
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<em>
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Cytogenetic location: 5q31.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:138,753,425-138,935,034 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<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">
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5q31.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Macular dystrophy, patterned, 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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608970
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>E-cadherin is a transmembrane glycoprotein responsible for physical connection of epithelial cells through Ca(2+)-binding regions in its extracellular domain. E-cadherin-mediated cell-cell adhesion is effected by 3 cytoplasmic proteins known as catenins alpha, beta (see 116806), and gamma. These catenins are thought to work as connectors that anchor the E-cadherin to the cytoskeletal actin bundle through the cadherin cytoplasmic domain. Dysfunction of this adhesion complex causes dissociation of cancer cells from primary tumor nodules, thus possibly contributing to cancer invasion and metastasis. Herrenknecht et al. (1991) and Nagafuchi et al. (1991) isolated a murine cDNA encoding the 102-kD alpha-catenin (CAP102). Oda et al. (1993) cloned and sequenced human alpha-catenin. They found that it shows extensive homology with that of the mouse. Hirano et al. (1992) and Shimoyama et al. (1992) showed that a human lung cancer cell line, PC9, which expresses E-cadherin but only a small quantity of abnormal-sized alpha-catenin, grew initially as isolated cells and then regained its cell-cell adhesion potential when transfected with alpha-catenin. Oda et al. (1993) found 2 abnormal mRNA sequences of alpha-catenin in PC9; one was a 957-bp deletion resulting in a 319-amino acid deletion and another was a 761-bp deletion resulting in a frameshift. The deletions were thought to be responsible for the loss of alpha-catenin expression. </p><p>Furukawa et al. (1994) determined that the CTNNA1 gene encodes 906 amino acids. The 102-kD predicted protein is the same size as the murine homolog, and the amino acid sequences of the 2 proteins are 99.2% homologous. Analysis by reverse transcription-PCR demonstrated that the gene is expressed ubiquitously in normal tissues. The gene is expressed as a 3.4-kb transcript. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</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><strong><em>Crystal Structure</em></strong></p><p>
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In adherens junctions, alpha-catenin links the cadherin/beta-catenin complex to the actin-based cytoskeleton. Alpha-catenin is a homodimer in solution, but forms a 1:1 heterodimer with beta-catenin. Pokutta and Weis (2000) determined the crystal structure of the alpha-catenin dimerization domain, residues 82 to 279. The crystal structure showed that alpha-catenin dimerizes through formation of a 4-helix bundle in which 2 antiparallel helices are contributed by each protomer. A slightly larger fragment, containing residues 57 to 264, bound to beta-catenin. The crystal structure of a chimera consisting of the alpha-catenin-binding region of beta-catenin linked to the N terminus of alpha-catenin residues 57 to 264 revealed the interaction between alpha- and beta-catenin and provided a basis for understanding adherens junction assembly. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Furukawa et al. (1994) showed that the CTNNA1 gene contains 16 coding exons and at least one 5-prime noncoding exon. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By fluorescence in situ hybridization, Furukawa et al. (1994) mapped the CTNNA1 gene to 5q31. </p><p>McPherson et al. (1994) sequenced partial alpha-catenin cDNAs from a human prostate cDNA library and used these data to map the CTNNA1 gene by PCR analysis of a panel of somatic cell hybrids carrying various deletions. They concluded that the gene was located in the segment between mid 5q21 and distal 5q22. The discrepancy was resolved by Nollet et al. (1995), who characterized a catenin processed pseudogene (CTNNAP1) which shows 90% nucleotide sequence identity to the catenin functional gene (CTNNA1). The authors mapped the pseudogene to 5q22 and the functional gene to 5q31 by fluorescence in situ hybridization. Guenet et al. (1995) mapped the corresponding mouse gene (symbolized Catna1) to chromosome 18 by analysis of the segregation pattern of informative DNA polymorphisms among the progeny of 2 interspecific backcrosses. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>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>Vasioukhin et al. (2001) examined the consequences of alpha-catenin protein ablation in otherwise normal newborn mice. When surface epithelium alpha-catenin was ablated, hair follicle development was blocked and epidermal morphogenesis was dramatically affected, with defects in adherens junction formation, intercellular adhesion, and epithelial polarity. Differentiation occurred, but epidermis displayed hyperproliferation, suprabasal mitoses, and multinucleated cells. In vitro, alpha-catenin null keratinocytes were poorly contact inhibited and grew rapidly. These differences were not dependent upon intercellular adhesion and were in marked contrast to keratinocytes conditionally null for another essential intercellular adhesion protein, desmoplakin (DSP; 125647). Knockout keratinocytes exhibited sustained activation of the Ras-MAPK cascade due to aberrations in growth factor responses. The authors concluded that features of precancerous lesions often attributed to defects in cell cycle regulatory genes can be generated by compromising the function of alpha-catenin. </p><p>Van Aken et al. (2002) studied the cadherin-catenin complex in retinoblastoma and normal retina tissues. In both cases, they found that N-cadherin (114020) was associated with alpha- and beta-catenin but not with E- or P-cadherin. Moreover, retinoblastoma cells, in contrast with normal retina, expressed an N-cadherin/catenin complex that was irregularly distributed and weakly linked to the cytoskeleton. In retinoblastoma, this complex acted as an invasion promoter. </p>
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</span>
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p><strong><em>Patterned Macular Dystrophy 2</em></strong></p><p>
|
|
In affected individuals from 3 unrelated families with patterned macular dystrophy-2 (MDPT2; 608970), Saksens et al. (2016) identified heterozygosity for missense mutations in the CTNNA1 gene (116805.0001-116805.0003) that segregated with disease and were not found in controls or the Exome Variant Server database. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
Interstitial deletion of all or part of chromosome 5q is a frequent clonal chromosomal abnormality in human myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Using primitive leukemia-initiating cells from individuals with MDS or AML, with or without a chromosome 5q deletion, Liu et al. (2007) analyzed the expression of 12 genes within the 5q31 common deleted region and found that CTNNA1 was expressed at a much lower level in cells from individuals with a 5q deletion than in cells from those without a 5q deletion or in normal hematopoietic cells. Analysis of HL-60 myeloid leukemia cells with deletion of the 5q31 region showed that the CTNNA1 promoter of the retained allele was suppressed by both methylation and histone deacetylation. Restoration of CTNNA1 expression in HL-60 cells resulted in reduced proliferation and apoptotic cell death. Liu et al. (2007) concluded that loss of the CTNNA1 tumor suppressor gene in hematopoietic stem cells may provide a growth advantage that contributes to human MDS/AML with 5q deletion. </p><p>Ding et al. (2010) described the genomic analyses of 4 DNA samples from an African American patient with basal-like breast cancer: peripheral blood, the primary tumor, a brain metastasis, and a xenograft derived from the primary tumor. The metastasis contained 2 de novo mutations and a large deletion not present in the primary tumor, and was significantly enriched for 20 shared mutations. The xenograft retained all primary tumor mutations and displayed a mutation enrichment pattern that resembled the metastasis. Two overlapping large deletions encompassing CTNNA1 were present in all 3 tumor samples. The differential mutation frequencies and structural variation patterns in metastasis and xenograft compared with the primary tumor indicated that secondary tumors may arise from a minority of cells with the primary tumor. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Lien et al. (2006) found that neural progenitors express alpha-E catenin while differentiated neurons express alpha-N catenin (114025). To study the role of alpha-E catenin in the central nervous system (CNS), Lien et al. (2006) created CNS-specific deletion of alpha-E catenin. Heterozygotes were similar to wildtype littermates. At embryonic day 12.5 alpha-E catenin-null mice were indistinguishable from their littermates, but by embryonic day 13.5 mutant brains displayed a 40% increase in total cell numbers. At birth, these pups were born with small bodies and enlarged heads; after birth the heads of these animals continued to grow but their bodies were developmentally retarded. Pups failed to thrive and died between 2 and 3 weeks of age. Histologic analysis of alpha-E catenin-null brains revealed severe dysplasia and hyperplasia. The ventricular zone cells were dispersed throughout the developing brains, forming invasive tumor-like masses that displayed widespread pseudopalisading and the formation of rosettes similar to Homer-Wright rosettes in human medulloblastoma, neuroblastoma, retinoblastoma, pineoblastoma, neurocytoma, and pineocytoma tumors. Alpha-E catenin-null embryos had a prominent increase in the thickness and size of the cerebral cortex. There was massive expansion of dysplastic cortical progenitor cells, causing a posterior and ventral shift in localization of the lateral ventricle. Lien et al. (2006) found that the hyperplasia in alpha-E catenin-null brains was the combined outcome of the shortening of the cell cycle and decreased apoptosis in neural progenitor cells. Using a microarray approach, Lien et al. (2006) determined that only 5 transcripts were upregulated and 3 downregulated in alpha-E catenin-null brains. The 2 most upregulated cDNAs, Fgf15 (see 603891) and Gli1 (165220), are transcriptional targets of the hedgehog (see 600725) pathway. Quantitative RT-PCR showed significant upregulation of Gli1, Fgf15, and Smoothened (601500). Lien et al. (2006) proposed that alpha-E catenin connects cell density-dependent adherens junctions with the developmental hedgehog pathway and that this connection may provide a negative feedback loop controlling the size of developing cerebral cortex. </p><p>Shibata et al. (2007) generated several familial adenomatous polyposis (FAP; 175100) mouse lines heterozygous for a ser580-to-asp (S580D) truncation mutation in the Apc gene (611731) and found that 1 line (line 19) showed reduced incidence of intestinal adenomas (less than 5% compared with other lines). They identified a deletion in the Ctnna1 gene as the cause of tumor suppression in line-19 Apc S580D/+ mice and found that suppression only occurred when the Ctnna1 deletion was in cis configuration with the Apc S580D mutation. In all adenomas generated in line-19 Apc S580D/+ mice, somatic recombination between Apc and Ctnna1 retained the wildtype Ctnna1 allele. Shibata et al. (2007) concluded that simultaneous inactivation of Ctnna1 and Apc during tumor initiation suppressed adenoma formation in line-19 Apc S580D/+ mice, suggesting that CTNNA1 plays an essential role in initiation of intestinal adenomas. They noted that evidence from human colon tumors with invasive or metastatic potential had established a tumor-suppressive role for CTNNA1 in late-stage tumorigenesis. Thus, Shibata et al. (2007) suggested that CTNNA1 has dual roles in intestinal tumorigenesis: a supporting role in tumor initiation and a suppressive role in tumor progression. </p><p>Li et al. (2012) observed progressive dilated cardiomyopathy approximately 8 months after induction of Ctnna1 deletion in mice. Increased expression of Ctnna3 (607667) at 3 months postinduction suggested that Ctnna3 may compensate, at least in part, for loss of Ctnna1 in mouse heart. </p><p>Saksens et al. (2016) identified a Ctnna1 missense mutation (L436P) in a chemically induced mouse mutant, tvrm5, and observed changes in the retinal pigment epithelium (RPE) parallel to those of patients with butterfly-shaped pigment dystrophy, including pigmentary abnormalities, focal thickening and elevated lesions, and decreased light-activated responses. Morphologic studies in tvrm5 mice demonstrated increased cell shedding and the presence of large multinucleated RPE cells, suggesting defects in intercellular adhesion and cytokinesis. </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>3 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 MACULAR DYSTROPHY, PATTERNED, 2</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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CTNNA1, LEU318SER
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<br />
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SNP: rs869320696,
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ClinVar: RCV000210752
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a large Dutch family with patterned macular dystrophy-2 (MDPT2; 608970), originally described by Deutman et al. (1970), Saksens et al. (2016) identified heterozygosity for a c.953T-C transition (c.953T-C, NM_001903) in the CTNNA1 gene, resulting in a leu318-to-ser (L318S) substitution at a residue conserved among vertebrates. The mutation segregated with disease in the family and was not found in 162 ancestry-matched controls or in the Exome Variant Server database. </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 MACULAR DYSTROPHY, PATTERNED, 2</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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CTNNA1, ILE431MET
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<br />
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SNP: rs755215402,
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gnomAD: rs755215402,
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ClinVar: RCV000210749, RCV002381724, RCV005090049
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Dutch mother and son with patterned macular dystrophy-2 (MDPT2; 608970), Saksens et al. (2016) identified heterozygosity for a c.1293T-G transversion (c.1293T-G, NM_001903) in exon 9 of the CTNNA1 gene, resulting in an ile431-to-met (I431M) substitution at a residue conserved among vertebrates. The mutation was not found in 162 ancestry-matched controls or in the Exome Variant Server database. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 MACULAR DYSTROPHY, PATTERNED, 2</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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CTNNA1, GLU307LYS
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<br />
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SNP: rs869320697,
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ClinVar: RCV000210750
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</span>
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<span class="mim-text-font">
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<p>In a Belgian mother and daughter with patterned macular dystrophy-2 (MDPT2; 608970), Saksens et al. (2016) identified heterozygosity for a c.919G-A transition (c.919G-A, NM_001903) in exon 7 of the CTNNA1 gene, resulting in a glu307-to-lys (E307K) substitution at a residue conserved among vertebrates. The mutation was not found in 162 ancestry-matched controls or in the Exome Variant Server database. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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Ding, L., Ellis, M. J., Li, S., Larson, D. E., Chen, K., Wallis, J. W., Harris, C. C., McLellan, M. D., Fulton, R. S., Fulton, L. L., Abbott, R. M., Hoog, J., and 57 others.
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Li, J., Goossens, S., van Hengel, J., Gao, E., Cheng, L., Tyberghein, K., Shang, X., De Rycke, R., van Roy, F., Radice, G. L.
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<strong>Loss of alpha-T-catenin alters the hybrid adhering junctions in the heart and leads to dilated cardiomyopathy and ventricular arrhythmia following acute ischemia.</strong>
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Lien, W.-H., Klezovitch, O., Fernandez, T. E., Delrow, J., Vasioukhin, V.
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<strong>Alpha-E-catenin controls cerebral cortical size by regulating the hedgehog signaling pathway.</strong>
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Liu, T. X., Becker, M. W., Jelinek, J., Wu, W.-S., Deng, M., Mikhalkevich, N., Hsu, K., Bloomfield, C. D., Stone, R. M., DeAngelo, D. J., Galinsky, I. A., Issa, J.-P., Clarke, M. F., Look, A. T.
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<strong>Chromosome 5q deletion and epigenetic suppression of the gene encoding alpha-catenin (CTNNA1) in myeloid cell transformation.</strong>
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McPherson, J. D., Morton, R. A., Ewing, C. M., Wasmuth, J. J., Overhauser, J., Nagafuchi, A., Tsukita, S., Isaacs, W. B.
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<strong>Assignment of the human alpha-catenin gene (CTNNA1) to chromosome 5q21-q22.</strong>
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Nagafuchi, A., Takeichi, M., Tsukita, S.
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<strong>The 102 kd cadherin-associated protein: similarity to vinculin and posttranscriptional regulation of expression.</strong>
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Nollet, F., van Hengel, J., Berx, G., Molemans, F., van Roy, F.
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<strong>Isolation and characterization of a human pseudogene (CTNNAP1) for alpha-E-catenin (CTNNA1): assignment of the pseudogene to 5q22 and the alpha-E-catenin gene to 5q31.</strong>
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Oda, T., Kanai, Y., Shimoyama, Y., Nagafuchi, A., Tsukita, S., Hirohashi, S.
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<strong>Cloning of the human alpha-catenin cDNA and its aberrant mRNA in a human cancer cell line.</strong>
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<strong>Structure of the dimerization and beta-catenin-binding region of alpha-catenin.</strong>
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Saksens, N. T. M., Krebs, M. P., Schoenmaker-Koller, F. E., Hicks, W., Yu, M., Shi, L., Rowe, L., Collin, G. B., Charette, J. R., Letteboer, S. J., Neveling, K., van Moorsel, T. W., and 13 others.
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<strong>Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.</strong>
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Shibata, H., Takano, H., Ito, M., Shioya, H., Hirota, M., Matsumoto, H., Kakudo, Y., Ishioka, C., Akiyama, T., Kanegae, Y., Saito, I., Noda, T.
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Van Aken, E. H., Papeleu, P., De Potter, P., Bruyneel, E., Philippe, J., Seregard, S., Kvanta, A., De Laey, J.-J., Mareel, M. M.
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Marla J. F. O'Neill - updated : 04/08/2016<br>Patricia A. Hartz - updated : 12/12/2014<br>Ada Hamosh - updated : 5/10/2010<br>Patricia A. Hartz - updated : 4/9/2008<br>Marla J. F. O'Neill - updated : 2/27/2007<br>Ada Hamosh - updated : 4/14/2006<br>Jane Kelly - updated : 11/7/2002<br>Stylianos E. Antonarakis - updated : 3/6/2001<br>Stylianos E. Antonarakis - updated : 6/9/2000<br>Alan F. Scott - updated : 10/11/1995
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Victor A. McKusick : 9/2/1993
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carol : 12/23/2024<br>alopez : 04/08/2016<br>mgross : 12/15/2014<br>mcolton : 12/12/2014<br>alopez : 5/10/2010<br>alopez : 5/10/2010<br>mgross : 4/11/2008<br>terry : 4/9/2008<br>wwang : 2/28/2007<br>wwang : 2/27/2007<br>alopez : 4/18/2006<br>alopez : 4/18/2006<br>terry : 4/14/2006<br>carol : 3/28/2003<br>carol : 11/7/2002<br>carol : 11/7/2002<br>mgross : 3/6/2001<br>mgross : 6/9/2000<br>mgross : 6/9/2000<br>dkim : 9/11/1998<br>dkim : 6/30/1998<br>terry : 4/17/1996<br>mark : 3/7/1996<br>mark : 6/15/1995<br>carol : 2/9/1994<br>carol : 12/16/1993<br>carol : 10/26/1993<br>carol : 9/15/1993
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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