2961 lines
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Entry
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- *608965 - CALCIUM-BINDING PROTEIN 4; CABP4
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- OMIM
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<p>
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<span class="h4">*608965</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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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="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608965">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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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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<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=ENSG00000175544;t=ENST00000325656" 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=57010" 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=608965" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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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<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=ENSG00000175544;t=ENST00000325656" 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_001300895,NM_001300896,NM_001379183,NM_145200,NR_166529,XM_005274114,XM_024448615" 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_145200" 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=608965" 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=12344&isoform_id=12344_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/CABP4" 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/18031755,20178284,21619965,21624641,119595033,119595034,119595035,119595036,665505979,665505981,767968558,1370459800,1824614785,2462526556" 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/P57796" 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=57010" 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=ENSG00000175544;t=ENST00000325656" 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=CABP4" 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=CABP4" 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+57010" 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/CABP4" 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:57010" 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/57010" 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=chr11&hgg_gene=ENST00000325656.7&hgg_start=67452403&hgg_end=67461752&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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</a>
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</span>
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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:1386" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608965[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 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=608965[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/ENSG00000175544" 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=CABP4" 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=CABP4" 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=CABP4" 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=CABP4&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/PA26003" 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:1386" 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/FBgn0034774.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:1920910" 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/CABP4#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:1920910" 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/57010/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=57010" 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://zfin.org/ZDB-GENE-081104-291" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=CABP4&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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608965
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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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CALCIUM-BINDING PROTEIN 4; CABP4
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CABP4" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CABP4</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/11/666?start=-3&limit=10&highlight=666">11q13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:67452403-67461752&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'})">11:67,452,403-67,461,752</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</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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<a href="/geneMap/11/666?start=-3&limit=10&highlight=666">
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11q13.2
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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">
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Cone-rod synaptic disorder, congenital nonprogressive
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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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<a href="/entry/610427"> 610427 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/608965" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/608965" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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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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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>By searching databases for sequences similar to CABPs, <a href="#4" class="mim-tip-reference" title="Haeseleer, F., Sokal, I., Verlinde, C. L. M. J., Erdjument-Bromage, H., Tempst, P., Pronin, A. N., Benovic, J. L., Fariss, R. N., Palczewski, K. <strong>Five members of a novel Ca(2+)-binding protein (CABP) subfamily with similarity to calmodulin.</strong> J. Biol. Chem. 275: 1247-1260, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10625670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10625670</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10625670[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/10.1074/jbc.275.2.1247" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10625670">Haeseleer et al. (2000)</a> identified a CABP4 genomic clone. Like other CABP family members, the deduced CABP4 protein contains 4 EF-hand motifs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10625670" 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="Haeseleer, F., Imanishi, Y., Maeda, T., Possin, D. E., Maeda, A., Lee, A., Rieke, F., Palczewski, K. <strong>Essential role of Ca(2+)-binding protein 4, a Ca(V)1.4 channel regulator, in photoreceptor synaptic function.</strong> Nature Neurosci. 7: 1079-1087, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452577</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15452577[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/nn1320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452577">Haeseleer et al. (2004)</a> obtained a full-length human CABP4 cDNA by PCR of a retina cDNA library. The deduced 275-amino acid protein has a calculated molecular mass of 30.4 kD. <a href="#3" class="mim-tip-reference" title="Haeseleer, F., Imanishi, Y., Maeda, T., Possin, D. E., Maeda, A., Lee, A., Rieke, F., Palczewski, K. <strong>Essential role of Ca(2+)-binding protein 4, a Ca(V)1.4 channel regulator, in photoreceptor synaptic function.</strong> Nature Neurosci. 7: 1079-1087, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452577</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15452577[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/nn1320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452577">Haeseleer et al. (2004)</a> noted that the second EF-hand motif of CABP4 cannot coordinate Ca(2+) because the lysine residue in position 1 is not suitable for Ca(2+) coordination. Human, bovine, mouse, and rat CABP4 are highly homologous in their C-terminal regions, but are less conserved in their N-terminal regions. Northern blot analysis of several human tissues and rat retina and brain detected 1.6- and 3.8-kb transcripts only in retina. RT-PCR of mouse tissues detected expression only in retina. In situ hybridization and immunocytochemical analysis of monkey retina detected Cabp4 only in photoreceptors. Analysis of mouse retina found Cabp4 in rod spherules and cone pedicles, where it colocalized with synaptic vesicle proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15452577" 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="#3" class="mim-tip-reference" title="Haeseleer, F., Imanishi, Y., Maeda, T., Possin, D. E., Maeda, A., Lee, A., Rieke, F., Palczewski, K. <strong>Essential role of Ca(2+)-binding protein 4, a Ca(V)1.4 channel regulator, in photoreceptor synaptic function.</strong> Nature Neurosci. 7: 1079-1087, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452577</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15452577[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/nn1320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452577">Haeseleer et al. (2004)</a> found that CABP4 associated with the C-terminal domain of Ca(V)4.1 alpha-1 (CACNA1F; <a href="/entry/300110">300110</a>) and shifted the activation of the channel to hyperpolarized voltages following cotransfection in human embryonic kidney cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15452577" 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="#4" class="mim-tip-reference" title="Haeseleer, F., Sokal, I., Verlinde, C. L. M. J., Erdjument-Bromage, H., Tempst, P., Pronin, A. N., Benovic, J. L., Fariss, R. N., Palczewski, K. <strong>Five members of a novel Ca(2+)-binding protein (CABP) subfamily with similarity to calmodulin.</strong> J. Biol. Chem. 275: 1247-1260, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10625670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10625670</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10625670[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/10.1074/jbc.275.2.1247" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10625670">Haeseleer et al. (2000)</a> determined that the CABP4 gene contains 6 exons. <a href="#3" class="mim-tip-reference" title="Haeseleer, F., Imanishi, Y., Maeda, T., Possin, D. E., Maeda, A., Lee, A., Rieke, F., Palczewski, K. <strong>Essential role of Ca(2+)-binding protein 4, a Ca(V)1.4 channel regulator, in photoreceptor synaptic function.</strong> Nature Neurosci. 7: 1079-1087, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452577</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15452577[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/nn1320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452577">Haeseleer et al. (2004)</a> determined that the CABP4 gene spans about 4 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10625670+15452577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#3" class="mim-tip-reference" title="Haeseleer, F., Imanishi, Y., Maeda, T., Possin, D. E., Maeda, A., Lee, A., Rieke, F., Palczewski, K. <strong>Essential role of Ca(2+)-binding protein 4, a Ca(V)1.4 channel regulator, in photoreceptor synaptic function.</strong> Nature Neurosci. 7: 1079-1087, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452577</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15452577[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/nn1320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452577">Haeseleer et al. (2004)</a> mapped the CABP4 gene to chromosome 11q13.1. CABP4 lies in the opposite orientation and is separated from CABP2 (<a href="/entry/607314">607314</a>) by 4 genes and about 60 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15452577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 Swiss brothers who had decreased visual acuity without night blindness (CRSD; <a href="/entry/610427">610427</a>) and who exhibited ERG findings consistent with CSNB2 (<a href="/entry/300071">300071</a>) but were negative for mutation in the CACNA1F gene (<a href="/entry/300110">300110</a>), <a href="#8" class="mim-tip-reference" title="Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F.-X., Schorderet, D. F., Zrenner, E., Munier, F. L., Berger, W. <strong>Mutations in CABP4, the gene encoding the Ca(2+)-binding protein 4, cause autosomal recessive night blindness.</strong> Am. J. Hum. Genet. 79: 657-667, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960802[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/10.1086/508067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960802">Zeitz et al. (2006)</a> identified homozygosity for a 2-bp deletion in the CABP4 gene (800delAG; <a href="#0001">608965.0001</a>). In addition, a 15-year-old boy from an unrelated family of Swiss ancestry, who did experience night blindness and whose ERG showed a pattern typical for CSNB in general, was compound heterozygous for the 2-bp deletion and a missense mutation in CABP4 (R124C; <a href="#0002">608965.0002</a>). He was also hemizygous for an N735T missense mutation in the CACNA1F gene, as was his unaffected brother, and his mother was a heterozygous carrier of the variant. <a href="#8" class="mim-tip-reference" title="Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F.-X., Schorderet, D. F., Zrenner, E., Munier, F. L., Berger, W. <strong>Mutations in CABP4, the gene encoding the Ca(2+)-binding protein 4, cause autosomal recessive night blindness.</strong> Am. J. Hum. Genet. 79: 657-667, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960802[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/10.1086/508067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960802">Zeitz et al. (2006)</a> concluded that the CACNA1F variant was not itself disease-causing but might modify the phenotype. <a href="#8" class="mim-tip-reference" title="Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F.-X., Schorderet, D. F., Zrenner, E., Munier, F. L., Berger, W. <strong>Mutations in CABP4, the gene encoding the Ca(2+)-binding protein 4, cause autosomal recessive night blindness.</strong> Am. J. Hum. Genet. 79: 657-667, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960802[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/10.1086/508067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960802">Zeitz et al. (2006)</a> showed that these mutations reduced CABP4 transcript levels to 30 to 40% of those in controls. On the basis of haplotype reconstruction and the Swiss ancestry of both families, a common origin of the 2-bp deletion in all 3 apparently unrelated individuals was considered possible. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Dutch brother and sister with decreased visual acuity and nystagmus due to CRSD, <a href="#6" class="mim-tip-reference" title="Littink, K. W., van Genderen, M. M., Collin, R. W. J., Roosing, S., de Brouwer, A. P. M., Riemslag, F. C. C., Venselaar, H., Thiadens, A. A. H. J., Hoyng, C. B., Rohrschneider, K., den Hollander, A. I., Cremers, F. P. M., van den Born, L. I. <strong>A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.</strong> Invest. Ophthal. Vis. Sci. 50: 2344-2350, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19074807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19074807</a>] [<a href="https://doi.org/10.1167/iovs.08-2553" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19074807">Littink et al. (2009)</a> identified homozygosity for a nonsense mutation in the CABP4 gene (R216X; <a href="#0003">608965.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19074807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 Bedouin sibs from a consanguineous family with decreased visual acuity from infancy and extinguished or markedly reduced ERG responses, <a href="#1" class="mim-tip-reference" title="Aldahmesh, M. A., Al-Owain, M., Alqahtani, F., Hazzaa, S., Alkuraya, F. S. <strong>A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.</strong> Molec. Vision 16: 207-212, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20157620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20157620</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20157620[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="20157620">Aldahmesh et al. (2010)</a> identified homozygosity for a 1-bp insertion in CABP4 (81insA; <a href="#0004">608965.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20157620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 7 patients from 3 consanguineous Saudi families with early-onset retinal dysfunction, <a href="#5" class="mim-tip-reference" title="Khan, A. O., Alrashed, M., Alkuraya, F. S. <strong>Clinical characterisation of the CABP4-related retinal phenotype.</strong> Brit. J. Ophthal. 97: 262-265, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23099293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23099293</a>] [<a href="https://doi.org/10.1136/bjophthalmol-2012-302186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23099293">Khan et al. (2013)</a> identified homozygosity for the same 1-bp insertion (81insA) previously reported in 4 Bedouin sibs by <a href="#1" class="mim-tip-reference" title="Aldahmesh, M. A., Al-Owain, M., Alqahtani, F., Hazzaa, S., Alkuraya, F. S. <strong>A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.</strong> Molec. Vision 16: 207-212, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20157620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20157620</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20157620[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="20157620">Aldahmesh et al. (2010)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20157620+23099293" 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="#3" class="mim-tip-reference" title="Haeseleer, F., Imanishi, Y., Maeda, T., Possin, D. E., Maeda, A., Lee, A., Rieke, F., Palczewski, K. <strong>Essential role of Ca(2+)-binding protein 4, a Ca(V)1.4 channel regulator, in photoreceptor synaptic function.</strong> Nature Neurosci. 7: 1079-1087, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452577</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15452577[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/nn1320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452577">Haeseleer et al. (2004)</a> developed Cabp4-null mice. The outer plexiform layer, which contains the photoreceptor synapses with secondary neurons, was thinner in mutant mice than in control mice. Cabp4 -/- retinas had ectopic synapses originating from rod bipolar and horizontal cells that extended into the outer nuclear layer. Rod bipolars were reduced in sensitivity about 100-fold, and electroretinograms indicated reduced cone and rod synaptic function. The phenotype of Cabp4-null mice was similar to that of patients with incomplete congenital stationary night blindness (<a href="/entry/300071">300071</a>). Similar morphologic and functional alterations were observed in the retinas of Cacna1f-mutant mice (<a href="#7" class="mim-tip-reference" title="Mansergh, F., Orton, N. C., Vessey, J. P., Lalonde, M. R., Stell, W. K., Tremblay, F., Barnes, S., Rancourt, D. E., Bech-Hansen, N. T. <strong>Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.</strong> Hum. Molec. Genet. 14: 3035-3046, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16155113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16155113</a>] [<a href="https://doi.org/10.1093/hmg/ddi336" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16155113">Mansergh et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15452577+16155113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608965[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs786205249 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205249;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=rs786205249" 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=rs786205249" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 Swiss brothers with congenital nonprogressive cone-rod synaptic disorder (CRSD; <a href="/entry/610427">610427</a>), <a href="#8" class="mim-tip-reference" title="Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F.-X., Schorderet, D. F., Zrenner, E., Munier, F. L., Berger, W. <strong>Mutations in CABP4, the gene encoding the Ca(2+)-binding protein 4, cause autosomal recessive night blindness.</strong> Am. J. Hum. Genet. 79: 657-667, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960802[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/10.1086/508067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960802">Zeitz et al. (2006)</a> identified homozygosity for a 2-bp deletion (800_801delAG) at the junction of intron 5 and exon 6 of the CABP4 gene. This deletion, which removes 1 of the AG dinucleotides, was predicted either to cause a translational frameshift or to affect transcript splicing by altering the acceptor site. A computational search led the authors to conclude that deletion of 1 of the 2 tandem AG nucleotides might not dramatically alter splicing efficiency, and RT-PCR experiments confirmed that the deletion did not cause aberrant splicing of CABP4. However, quantitative RT-PCR revealed a 60 to 70% reduction in patient CABP4 transcript levels compared to controls. The brothers' unaffected parents and 3 unaffected sibs were heterozygous for the mutation, which was not found in 216 control alleles. In a 15-year-old boy from an unrelated family of Swiss ancestry with a similar ocular phenotype, <a href="#8" class="mim-tip-reference" title="Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F.-X., Schorderet, D. F., Zrenner, E., Munier, F. L., Berger, W. <strong>Mutations in CABP4, the gene encoding the Ca(2+)-binding protein 4, cause autosomal recessive night blindness.</strong> Am. J. Hum. Genet. 79: 657-667, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960802[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/10.1086/508067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960802">Zeitz et al. (2006)</a> identified compound heterozygosity for the 2-bp deletion and a missense mutation in CABP4 (R124C; <a href="#0002">608965.0002</a>). SNP analysis revealed that the 2-bp deletion arose on the same haplotype in both families, suggesting a common origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121917828 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917828;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/rs121917828?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=rs121917828" 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=rs121917828" 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=RCV000002030 OR RCV001049798" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002030, RCV001049798" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002030...</a>
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<p>In a 15-year-old boy of Swiss ancestry with congenital nonprogressive cone-rod synaptic disorder (CRSD; <a href="/entry/610427">610427</a>), <a href="#8" class="mim-tip-reference" title="Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F.-X., Schorderet, D. F., Zrenner, E., Munier, F. L., Berger, W. <strong>Mutations in CABP4, the gene encoding the Ca(2+)-binding protein 4, cause autosomal recessive night blindness.</strong> Am. J. Hum. Genet. 79: 657-667, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960802[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/10.1086/508067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960802">Zeitz et al. (2006)</a> identified compound heterozygosity for a 2-bp deletion in the CABP4 gene (<a href="#0001">608965.0001</a>) and a c.370C-T transition in exon 2, predicted to introduce a binding site for SRp55 (SRSF6; <a href="/entry/601944">601944</a>) and influence splicing, or to result in an arg124-to-cys (R124C) substitution. His unaffected parents were each heterozygous for 1 of the mutations, which were not found in 216 or 228 control alleles, respectively. The patient exhibited CABP4 transcript levels 30 to 40% of those found in controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960802" 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>.0003 CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs150115958 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs150115958;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/rs150115958?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=rs150115958" 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=rs150115958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Dutch brother and sister with congenital nonprogressive cone-rod synaptic disorder (CRSD; <a href="/entry/610427">610427</a>), <a href="#6" class="mim-tip-reference" title="Littink, K. W., van Genderen, M. M., Collin, R. W. J., Roosing, S., de Brouwer, A. P. M., Riemslag, F. C. C., Venselaar, H., Thiadens, A. A. H. J., Hoyng, C. B., Rohrschneider, K., den Hollander, A. I., Cremers, F. P. M., van den Born, L. I. <strong>A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.</strong> Invest. Ophthal. Vis. Sci. 50: 2344-2350, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19074807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19074807</a>] [<a href="https://doi.org/10.1167/iovs.08-2553" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19074807">Littink et al. (2009)</a> identified homozygosity for a c.646C-T transition (c.646C-T, NM_14500) in exon 4 of the CABP4 gene, resulting in an arg216-to-ter (R216X) substitution that deletes the functional EF-hands 3 and 4. The unaffected parents were heterozygous for the mutation, which was not found in 300 ethnically matched alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19074807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a female Dutch patient with low visual acuity, hyperopia, severe nonspecific color vision defects, and photophobia, <a href="#2" class="mim-tip-reference" title="Bijveld, M. M. C., Florijn, R. J., Bergen, A. A. B., van den Born, L. I., Kamermans, M., Prick, L., Riemslag, F. C. C., van Schooneveld, M. J., Kappers, A. M. L., van Genderen, M. M. <strong>Genotype and phenotype of 101 Dutch patients with congenital stationary night blindness.</strong> Ophthalmology 120: :2072-2081, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23714322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23714322</a>] [<a href="https://doi.org/10.1016/j.ophtha.2013.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23714322">Bijveld et al. (2013)</a> identified homozygosity for the R216X mutation in CABP4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23714322" 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">rs786205852 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205852;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=rs786205852" 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=rs786205852" 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=RCV000171133 OR RCV001557083" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000171133, RCV001557083" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000171133...</a>
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<p>In 4 Bedouin sibs with congenital nonprogressive cone-rod synaptic disorder (CRSD; <a href="/entry/610427">610427</a>), <a href="#1" class="mim-tip-reference" title="Aldahmesh, M. A., Al-Owain, M., Alqahtani, F., Hazzaa, S., Alkuraya, F. S. <strong>A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.</strong> Molec. Vision 16: 207-212, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20157620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20157620</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20157620[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="20157620">Aldahmesh et al. (2010)</a> identified homozygosity for a 1-bp insertion (c.81_82insA, NM_145200.2), causing a frameshift predicted to add 44 novel amino acids before premature termination (Pro28ThrfsTer44). Their unaffected first-cousin parents and 1 unaffected brother were heterozygous for the insertion. The sibs had had severely decreased visual acuity from infancy, with extinguished or markedly reduced responses on electroretinography. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20157620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 7 patients from 3 consanguineous Saudi families with early-onset retinal dysfunction, <a href="#5" class="mim-tip-reference" title="Khan, A. O., Alrashed, M., Alkuraya, F. S. <strong>Clinical characterisation of the CABP4-related retinal phenotype.</strong> Brit. J. Ophthal. 97: 262-265, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23099293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23099293</a>] [<a href="https://doi.org/10.1136/bjophthalmol-2012-302186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23099293">Khan et al. (2013)</a> identified homozygosity for this 1-bp insertion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23099293" 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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Aldahmesh, M. A., Al-Owain, M., Alqahtani, F., Hazzaa, S., Alkuraya, F. S.
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<strong>A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.</strong>
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Molec. Vision 16: 207-212, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20157620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20157620</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20157620[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=20157620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bijveld, M. M. C., Florijn, R. J., Bergen, A. A. B., van den Born, L. I., Kamermans, M., Prick, L., Riemslag, F. C. C., van Schooneveld, M. J., Kappers, A. M. L., van Genderen, M. M.
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<strong>Genotype and phenotype of 101 Dutch patients with congenital stationary night blindness.</strong>
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Ophthalmology 120: :2072-2081, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23714322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23714322</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23714322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ophtha.2013.03.002" target="_blank">Full Text</a>]
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Haeseleer, F., Imanishi, Y., Maeda, T., Possin, D. E., Maeda, A., Lee, A., Rieke, F., Palczewski, K.
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<strong>Essential role of Ca(2+)-binding protein 4, a Ca(V)1.4 channel regulator, in photoreceptor synaptic function.</strong>
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Nature Neurosci. 7: 1079-1087, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452577</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15452577[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=15452577" 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/nn1320" target="_blank">Full Text</a>]
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Haeseleer, F., Sokal, I., Verlinde, C. L. M. J., Erdjument-Bromage, H., Tempst, P., Pronin, A. N., Benovic, J. L., Fariss, R. N., Palczewski, K.
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<strong>Five members of a novel Ca(2+)-binding protein (CABP) subfamily with similarity to calmodulin.</strong>
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J. Biol. Chem. 275: 1247-1260, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10625670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10625670</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10625670[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=10625670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.275.2.1247" target="_blank">Full Text</a>]
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Khan, A. O., Alrashed, M., Alkuraya, F. S.
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<strong>Clinical characterisation of the CABP4-related retinal phenotype.</strong>
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Brit. J. Ophthal. 97: 262-265, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23099293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23099293</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23099293" 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/10.1136/bjophthalmol-2012-302186" target="_blank">Full Text</a>]
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Littink, K. W., van Genderen, M. M., Collin, R. W. J., Roosing, S., de Brouwer, A. P. M., Riemslag, F. C. C., Venselaar, H., Thiadens, A. A. H. J., Hoyng, C. B., Rohrschneider, K., den Hollander, A. I., Cremers, F. P. M., van den Born, L. I.
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<strong>A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.</strong>
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Invest. Ophthal. Vis. Sci. 50: 2344-2350, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19074807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19074807</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19074807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1167/iovs.08-2553" target="_blank">Full Text</a>]
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Mansergh, F., Orton, N. C., Vessey, J. P., Lalonde, M. R., Stell, W. K., Tremblay, F., Barnes, S., Rancourt, D. E., Bech-Hansen, N. T.
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<strong>Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.</strong>
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Hum. Molec. Genet. 14: 3035-3046, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16155113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16155113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16155113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddi336" target="_blank">Full Text</a>]
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Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F.-X., Schorderet, D. F., Zrenner, E., Munier, F. L., Berger, W.
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<strong>Mutations in CABP4, the gene encoding the Ca(2+)-binding protein 4, cause autosomal recessive night blindness.</strong>
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Am. J. Hum. Genet. 79: 657-667, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960802[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=16960802" 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/10.1086/508067" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 5/21/2015
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Victor A. McKusick - updated : 9/21/2006
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carol : 5/22/2015<br>mcolton : 5/21/2015<br>wwang : 11/25/2008<br>alopez : 9/25/2006<br>terry : 9/21/2006<br>terry : 5/10/2006<br>terry : 4/6/2005<br>alopez : 10/29/2004<br>mgross : 10/11/2004
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CALCIUM-BINDING PROTEIN 4; CABP4
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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: 11q13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:67,452,403-67,461,752 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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|
Inheritance
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</th>
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<th>
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|
Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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11q13.2
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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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Cone-rod synaptic disorder, congenital nonprogressive
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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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610427
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Autosomal recessive
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
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">
|
|
<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">
|
|
<p>By searching databases for sequences similar to CABPs, Haeseleer et al. (2000) identified a CABP4 genomic clone. Like other CABP family members, the deduced CABP4 protein contains 4 EF-hand motifs. </p><p>Haeseleer et al. (2004) obtained a full-length human CABP4 cDNA by PCR of a retina cDNA library. The deduced 275-amino acid protein has a calculated molecular mass of 30.4 kD. Haeseleer et al. (2004) noted that the second EF-hand motif of CABP4 cannot coordinate Ca(2+) because the lysine residue in position 1 is not suitable for Ca(2+) coordination. Human, bovine, mouse, and rat CABP4 are highly homologous in their C-terminal regions, but are less conserved in their N-terminal regions. Northern blot analysis of several human tissues and rat retina and brain detected 1.6- and 3.8-kb transcripts only in retina. RT-PCR of mouse tissues detected expression only in retina. In situ hybridization and immunocytochemical analysis of monkey retina detected Cabp4 only in photoreceptors. Analysis of mouse retina found Cabp4 in rod spherules and cone pedicles, where it colocalized with synaptic vesicle proteins. </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>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>Haeseleer et al. (2004) found that CABP4 associated with the C-terminal domain of Ca(V)4.1 alpha-1 (CACNA1F; 300110) and shifted the activation of the channel to hyperpolarized voltages following cotransfection in human embryonic kidney cells. </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>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
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</span>
|
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p>Haeseleer et al. (2000) determined that the CABP4 gene contains 6 exons. Haeseleer et al. (2004) determined that the CABP4 gene spans about 4 kb. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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<span class="mim-text-font">
|
|
<p>By genomic sequence analysis, Haeseleer et al. (2004) mapped the CABP4 gene to chromosome 11q13.1. CABP4 lies in the opposite orientation and is separated from CABP2 (607314) by 4 genes and about 60 kb. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<span class="mim-text-font">
|
|
<p>In 2 Swiss brothers who had decreased visual acuity without night blindness (CRSD; 610427) and who exhibited ERG findings consistent with CSNB2 (300071) but were negative for mutation in the CACNA1F gene (300110), Zeitz et al. (2006) identified homozygosity for a 2-bp deletion in the CABP4 gene (800delAG; 608965.0001). In addition, a 15-year-old boy from an unrelated family of Swiss ancestry, who did experience night blindness and whose ERG showed a pattern typical for CSNB in general, was compound heterozygous for the 2-bp deletion and a missense mutation in CABP4 (R124C; 608965.0002). He was also hemizygous for an N735T missense mutation in the CACNA1F gene, as was his unaffected brother, and his mother was a heterozygous carrier of the variant. Zeitz et al. (2006) concluded that the CACNA1F variant was not itself disease-causing but might modify the phenotype. Zeitz et al. (2006) showed that these mutations reduced CABP4 transcript levels to 30 to 40% of those in controls. On the basis of haplotype reconstruction and the Swiss ancestry of both families, a common origin of the 2-bp deletion in all 3 apparently unrelated individuals was considered possible. </p><p>In a Dutch brother and sister with decreased visual acuity and nystagmus due to CRSD, Littink et al. (2009) identified homozygosity for a nonsense mutation in the CABP4 gene (R216X; 608965.0003). </p><p>In 4 Bedouin sibs from a consanguineous family with decreased visual acuity from infancy and extinguished or markedly reduced ERG responses, Aldahmesh et al. (2010) identified homozygosity for a 1-bp insertion in CABP4 (81insA; 608965.0004). </p><p>In 7 patients from 3 consanguineous Saudi families with early-onset retinal dysfunction, Khan et al. (2013) identified homozygosity for the same 1-bp insertion (81insA) previously reported in 4 Bedouin sibs by Aldahmesh et al. (2010). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Haeseleer et al. (2004) developed Cabp4-null mice. The outer plexiform layer, which contains the photoreceptor synapses with secondary neurons, was thinner in mutant mice than in control mice. Cabp4 -/- retinas had ectopic synapses originating from rod bipolar and horizontal cells that extended into the outer nuclear layer. Rod bipolars were reduced in sensitivity about 100-fold, and electroretinograms indicated reduced cone and rod synaptic function. The phenotype of Cabp4-null mice was similar to that of patients with incomplete congenital stationary night blindness (300071). Similar morphologic and functional alterations were observed in the retinas of Cacna1f-mutant mice (Mansergh et al., 2005). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>4 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CABP4, 2-BP DEL, 800AG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786205249,
|
|
|
|
|
|
|
|
ClinVar: RCV000002029, RCV001008803
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Swiss brothers with congenital nonprogressive cone-rod synaptic disorder (CRSD; 610427), Zeitz et al. (2006) identified homozygosity for a 2-bp deletion (800_801delAG) at the junction of intron 5 and exon 6 of the CABP4 gene. This deletion, which removes 1 of the AG dinucleotides, was predicted either to cause a translational frameshift or to affect transcript splicing by altering the acceptor site. A computational search led the authors to conclude that deletion of 1 of the 2 tandem AG nucleotides might not dramatically alter splicing efficiency, and RT-PCR experiments confirmed that the deletion did not cause aberrant splicing of CABP4. However, quantitative RT-PCR revealed a 60 to 70% reduction in patient CABP4 transcript levels compared to controls. The brothers' unaffected parents and 3 unaffected sibs were heterozygous for the mutation, which was not found in 216 control alleles. In a 15-year-old boy from an unrelated family of Swiss ancestry with a similar ocular phenotype, Zeitz et al. (2006) identified compound heterozygosity for the 2-bp deletion and a missense mutation in CABP4 (R124C; 608965.0002). SNP analysis revealed that the 2-bp deletion arose on the same haplotype in both families, suggesting a common origin. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CABP4, ARG124CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121917828,
|
|
|
|
|
|
gnomAD: rs121917828,
|
|
|
|
|
|
ClinVar: RCV000002030, RCV001049798
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 15-year-old boy of Swiss ancestry with congenital nonprogressive cone-rod synaptic disorder (CRSD; 610427), Zeitz et al. (2006) identified compound heterozygosity for a 2-bp deletion in the CABP4 gene (608965.0001) and a c.370C-T transition in exon 2, predicted to introduce a binding site for SRp55 (SRSF6; 601944) and influence splicing, or to result in an arg124-to-cys (R124C) substitution. His unaffected parents were each heterozygous for 1 of the mutations, which were not found in 216 or 228 control alleles, respectively. The patient exhibited CABP4 transcript levels 30 to 40% of those found in controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CABP4, ARG216TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs150115958,
|
|
|
|
|
|
gnomAD: rs150115958,
|
|
|
|
|
|
ClinVar: RCV000171132, RCV000760417, RCV000787550, RCV000787800
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Dutch brother and sister with congenital nonprogressive cone-rod synaptic disorder (CRSD; 610427), Littink et al. (2009) identified homozygosity for a c.646C-T transition (c.646C-T, NM_14500) in exon 4 of the CABP4 gene, resulting in an arg216-to-ter (R216X) substitution that deletes the functional EF-hands 3 and 4. The unaffected parents were heterozygous for the mutation, which was not found in 300 ethnically matched alleles. </p><p>In a female Dutch patient with low visual acuity, hyperopia, severe nonspecific color vision defects, and photophobia, Bijveld et al. (2013) identified homozygosity for the R216X mutation in CABP4. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CABP4, 1-BP INS, 81A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786205852,
|
|
|
|
|
|
|
|
ClinVar: RCV000171133, RCV001557083
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 Bedouin sibs with congenital nonprogressive cone-rod synaptic disorder (CRSD; 610427), Aldahmesh et al. (2010) identified homozygosity for a 1-bp insertion (c.81_82insA, NM_145200.2), causing a frameshift predicted to add 44 novel amino acids before premature termination (Pro28ThrfsTer44). Their unaffected first-cousin parents and 1 unaffected brother were heterozygous for the insertion. The sibs had had severely decreased visual acuity from infancy, with extinguished or markedly reduced responses on electroretinography. </p><p>In 7 patients from 3 consanguineous Saudi families with early-onset retinal dysfunction, Khan et al. (2013) identified homozygosity for this 1-bp insertion. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Aldahmesh, M. A., Al-Owain, M., Alqahtani, F., Hazzaa, S., Alkuraya, F. S.
|
|
<strong>A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.</strong>
|
|
Molec. Vision 16: 207-212, 2010.
|
|
|
|
|
|
[PubMed: 20157620]
|
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bijveld, M. M. C., Florijn, R. J., Bergen, A. A. B., van den Born, L. I., Kamermans, M., Prick, L., Riemslag, F. C. C., van Schooneveld, M. J., Kappers, A. M. L., van Genderen, M. M.
|
|
<strong>Genotype and phenotype of 101 Dutch patients with congenital stationary night blindness.</strong>
|
|
Ophthalmology 120: :2072-2081, 2013.
|
|
|
|
|
|
[PubMed: 23714322]
|
|
|
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|
|
[Full Text: https://doi.org/10.1016/j.ophtha.2013.03.002]
|
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|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Haeseleer, F., Imanishi, Y., Maeda, T., Possin, D. E., Maeda, A., Lee, A., Rieke, F., Palczewski, K.
|
|
<strong>Essential role of Ca(2+)-binding protein 4, a Ca(V)1.4 channel regulator, in photoreceptor synaptic function.</strong>
|
|
Nature Neurosci. 7: 1079-1087, 2004.
|
|
|
|
|
|
[PubMed: 15452577]
|
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|
|
[Full Text: https://doi.org/10.1038/nn1320]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Haeseleer, F., Sokal, I., Verlinde, C. L. M. J., Erdjument-Bromage, H., Tempst, P., Pronin, A. N., Benovic, J. L., Fariss, R. N., Palczewski, K.
|
|
<strong>Five members of a novel Ca(2+)-binding protein (CABP) subfamily with similarity to calmodulin.</strong>
|
|
J. Biol. Chem. 275: 1247-1260, 2000.
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|
|
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|
|
[PubMed: 10625670]
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|
|
[Full Text: https://doi.org/10.1074/jbc.275.2.1247]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Khan, A. O., Alrashed, M., Alkuraya, F. S.
|
|
<strong>Clinical characterisation of the CABP4-related retinal phenotype.</strong>
|
|
Brit. J. Ophthal. 97: 262-265, 2013.
|
|
|
|
|
|
[PubMed: 23099293]
|
|
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|
|
[Full Text: https://doi.org/10.1136/bjophthalmol-2012-302186]
|
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|
</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Littink, K. W., van Genderen, M. M., Collin, R. W. J., Roosing, S., de Brouwer, A. P. M., Riemslag, F. C. C., Venselaar, H., Thiadens, A. A. H. J., Hoyng, C. B., Rohrschneider, K., den Hollander, A. I., Cremers, F. P. M., van den Born, L. I.
|
|
<strong>A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.</strong>
|
|
Invest. Ophthal. Vis. Sci. 50: 2344-2350, 2009.
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[PubMed: 19074807]
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[Full Text: https://doi.org/10.1167/iovs.08-2553]
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Mansergh, F., Orton, N. C., Vessey, J. P., Lalonde, M. R., Stell, W. K., Tremblay, F., Barnes, S., Rancourt, D. E., Bech-Hansen, N. T.
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<strong>Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.</strong>
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Hum. Molec. Genet. 14: 3035-3046, 2005.
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[PubMed: 16155113]
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[Full Text: https://doi.org/10.1093/hmg/ddi336]
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Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F.-X., Schorderet, D. F., Zrenner, E., Munier, F. L., Berger, W.
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<strong>Mutations in CABP4, the gene encoding the Ca(2+)-binding protein 4, cause autosomal recessive night blindness.</strong>
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Am. J. Hum. Genet. 79: 657-667, 2006.
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[PubMed: 16960802]
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[Full Text: https://doi.org/10.1086/508067]
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Marla J. F. O'Neill - updated : 5/21/2015<br>Victor A. McKusick - updated : 9/21/2006
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