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Entry
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- *603576 - TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 1; TRPM1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603576</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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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603576">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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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000134160;t=ENST00000256552" 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=4308" 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=603576" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000134160;t=ENST00000256552" 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_001252020,NM_001252024,NM_001252030,NM_002420" 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_001252024" 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=603576" 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=04656&isoform_id=04656_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/TRPM1" 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/3243075,33235686,33235688,33235690,33235692,33235694,34849478,94538366,119581664,119581665,119581666,119581667,119581668,182701419,257449989,299802537,299802539,354721145,354721154,354721166,2462492764,2462492766,2462498329,2462498331,2462544131,2462544133,2707154037,2707154041" 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/Q7Z4N2" 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=4308" 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=ENSG00000134160;t=ENST00000256552" 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=TRPM1" 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=TRPM1" 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+4308" 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/TRPM1" 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:4308" 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/4308" 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=chr15&hgg_gene=ENST00000256552.11&hgg_start=31001065&hgg_end=31161160&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7146" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:7146" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/trpm1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603576[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603576[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/TRPM1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000134160" 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=TRPM1" 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=TRPM1" 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=TRPM1" 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=TRPM1&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/PA35496" 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:7146" 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/FBgn0265194.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:1330305" 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/TRPM1#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:1330305" 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/4308/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://omia.org/results?search_type=advanced&omia_id=001341,002139" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=4308" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00001651;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00001651 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00001795;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00001795 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00001796;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00001796 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-070112-1372" 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=TRPM1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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603576
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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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TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 1; TRPM1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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MELASTATIN 1; MLSN1
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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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=TRPM1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TRPM1</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/15/54?start=-3&limit=10&highlight=54">15q13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:31001065-31161160&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'})">15:31,001,065-31,161,160</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>
|
|
<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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|
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<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/15/54?start=-3&limit=10&highlight=54">
|
|
15q13.3
|
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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">
|
|
Night blindness, congenital stationary (complete), 1C, 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">
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|
<a href="/entry/613216"> 613216 </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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<p>TRPM1 is the founding member of the melastatin-related transient receptor (TRPM) channel family. TRPMs are Ca(2+)-permeable cation channels localized predominantly to the plasma membrane. The structural machinery of TRPM channels includes intracellular N and C termini, 6 transmembrane segments, and a pore region between segments 5 and 6. The N-terminal domain has a conserved region, and the C-terminal domain contains a TRP motif, a coiled-coil region, and, in some TRPM channels, an enzymatic domain (review by <a href="#5" class="mim-tip-reference" title="Farooqi, A. A., Javeed, M. K., Javed, Z., Riaz, A. M., Mukhtar, S., Minhaj, S., Abbas, S., Bhatti, S. <strong>TRPM channels: same ballpark, different players, and different rules in immunogenetics.</strong> Immunogenetics 63: 773-787, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21932052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21932052</a>] [<a href="https://doi.org/10.1007/s00251-011-0570-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21932052">Farooqi et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21932052" 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="Duncan, L. M., Deeds, J., Hunter, J., Shao, J., Holmgren, L. M., Woolf, E. A., Tepper, R. I., Shyjan, A. W. <strong>Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis.</strong> Cancer Res. 58: 1515-1520, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9537257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9537257</a>]" pmid="9537257">Duncan et al. (1998)</a> used differential display PCR to identify an RNA sequence that was downregulated in highly metastatic mouse melanoma cells compared with poorly metastatic cells. They cloned the corresponding mouse cDNA, termed melastatin. Northern blot analysis of mouse tissues and cell lines revealed that melastatin was expressed as a 2.8-kb mRNA in normal eye and in 4 melanoma cell lines; its expression in each of the 4 cell lines was inversely proportional to metastatic potential. In 45 human melanocytic primary neoplasms examined by in situ hybridization, the loss of melastatin expression correlated with the thickness of the melanomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9537257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Hunter, J. J., Shao, J., Smutko, J. S., Dussault, B. J., Nagle, D. L., Woolf, E. A., Holmgren, L. M., Moore, K. J., Shyjan, A. W. <strong>Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1).</strong> Genomics 54: 116-123, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9806836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9806836</a>] [<a href="https://doi.org/10.1006/geno.1998.5549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9806836">Hunter et al. (1998)</a> cloned the human melastatin cDNA from a retina cDNA library. The gene encodes a 1,533-amino acid polypeptide with homology to members of the TRP family of calcium channels (see TRPC1; <a href="/entry/602343">602343</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9806836" 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>Using differential display analysis, <a href="#4" class="mim-tip-reference" title="Fang, D., Setaluri, V. <strong>Expression and up-regulation of alternatively spliced transcripts of melastatin, a melanoma metastasis-related gene, in human melanoma cells.</strong> Biochem. Biophys. Res. Commun. 279: 53-61, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11112417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11112417</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3894" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11112417">Fang and Setaluri (2000)</a> identified TRPM1 among genes overexpressed in pigmented metastatic human melanoma cells treated with the differentiation inducer hexamethylene bisacetamide (HMBA). Multiple short transcripts, from both the 5-prime and 3-prime ends of TRPM1, were present in melanocytes and pigmented metastatic melanoma cell lines. The full-length 5.4-kb transcript was only found in melanocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11112417" 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>By RT-PCR of cDNA libraries derived from normal human melanocytes, retina, brain, and melanoma cell lines, <a href="#10" class="mim-tip-reference" title="Oancea, E., Vriens, J., Brauchi, S., Jun, J., Splawski, I., Clapham, D. E. <strong>TRPM1 forms ion channels associated with melanin content in melanocytes.</strong> Sci. Signal. 2: ra21, 2009. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19436059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19436059</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19436059[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/scisignal.2000146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19436059">Oancea et al. (2009)</a> cloned 5 variants of TRPM1 that differ in their use of 5-prime exons and start codons. The deduced proteins contain 1,516 to 1,643 amino acids and differ only in the lengths of their N termini. The TRPM1 exons involved in alternative splicing are conserved across several mammalian species. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19436059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Koike, C., Obara, T., Uriu, Y., Numata, T., Sanuki, R., Miyata, K., Koyasu, T., Ueno, S., Funabiki, K., Tani, A., Ueda, H., Kondo, M., Mori, Y., Tachibana, M., Furukawa, T. <strong>TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade.</strong> Proc. Nat. Acad. Sci. 107: 332-337, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19966281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19966281</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19966281[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0912730107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19966281">Koike et al. (2010)</a> cloned a long form of mouse Trpm1, which they designated Trpm1l. The deduced 1,622-amino acid protein contains 6 transmembrane domains, a pore region, and a TRP domain. Northern blot analysis detected both Trpm1l and the short form of Trpm1, Trpm1s, in retina, but only Trpm1s was detected in skin. Trpm1 expression was not detected in other mouse tissues examined. Immunohistochemical analysis of mouse retina at postnatal day 14 revealed diffuse Trpm1l expression in bipolar cells. At 1 month of age, Trpm1l localized to dendritic tips in the outer plexiform layer. Trpm1l colocalized with Go-alpha (GNAO1; <a href="/entry/139311">139311</a>) and Mglur6 (GRM6; <a href="/entry/604096">604096</a>) in ON bipolar cells, but it did not colocalize with OFF bipolar cell markers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19966281" 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="#10" class="mim-tip-reference" title="Oancea, E., Vriens, J., Brauchi, S., Jun, J., Splawski, I., Clapham, D. E. <strong>TRPM1 forms ion channels associated with melanin content in melanocytes.</strong> Sci. Signal. 2: ra21, 2009. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19436059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19436059</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19436059[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/scisignal.2000146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19436059">Oancea et al. (2009)</a> determined that the TRPM1 gene contains 29 exons, including the alternatively spliced exons 0 and 1-prime. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19436059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Hunter, J. J., Shao, J., Smutko, J. S., Dussault, B. J., Nagle, D. L., Woolf, E. A., Holmgren, L. M., Moore, K. J., Shyjan, A. W. <strong>Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1).</strong> Genomics 54: 116-123, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9806836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9806836</a>] [<a href="https://doi.org/10.1006/geno.1998.5549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9806836">Hunter et al. (1998)</a> cloned the mouse melastatin genomic region and found that the promoter contains 4 consensus binding sites for the microphthalmia-associated transcription factor (MITF; <a href="/entry/156845">156845</a>). One of these binding sites is an M box, a motif shared by the tyrosinase pigmentation genes (see TYRP1; <a href="/entry/115501">115501</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9806836" 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="#6" class="mim-tip-reference" title="Hunter, J. J., Shao, J., Smutko, J. S., Dussault, B. J., Nagle, D. L., Woolf, E. A., Holmgren, L. M., Moore, K. J., Shyjan, A. W. <strong>Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1).</strong> Genomics 54: 116-123, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9806836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9806836</a>] [<a href="https://doi.org/10.1006/geno.1998.5549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9806836">Hunter et al. (1998)</a> used a radiation hybrid panel to map the human MLSN1 gene to chromosome 15q13-q14. They used interspecific backcrosses to map the mouse gene to chromosome 7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9806836" 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="#12" class="mim-tip-reference" title="Xu, X.-Z. S., Moebius, F., Gill, D. L., Montell, C. <strong>Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform.</strong> Proc. Nat. Acad. Sci. 98: 10692-10697, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11535825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11535825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11535825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.191360198" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11535825">Xu et al. (2001)</a> found that TRPM1 mediated Ca(2+) entry when expressed in HEK293 cells. They found that a short form of TRPM1 interacted directly with and suppressed the activity of full-length TRPM1, possibly by inhibiting translocation of the full-length form to the plasma membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11535825" 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>Using Northern blot and RT-PCR analyses, <a href="#4" class="mim-tip-reference" title="Fang, D., Setaluri, V. <strong>Expression and up-regulation of alternatively spliced transcripts of melastatin, a melanoma metastasis-related gene, in human melanoma cells.</strong> Biochem. Biophys. Res. Commun. 279: 53-61, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11112417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11112417</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3894" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11112417">Fang and Setaluri (2000)</a> demonstrated that HMBA treatment upregulated expression of full-length TRPM1 and a 5-prime short form of TRPM1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11112417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Oancea, E., Vriens, J., Brauchi, S., Jun, J., Splawski, I., Clapham, D. E. <strong>TRPM1 forms ion channels associated with melanin content in melanocytes.</strong> Sci. Signal. 2: ra21, 2009. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19436059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19436059</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19436059[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/scisignal.2000146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19436059">Oancea et al. (2009)</a> showed that a nonselective, outwardly rectifying current measured in mouse melanoma cells was reduced by introducing a microRNA targeting Trpm1. The current was also blocked by lanthanum, a nonspecific blocker of many TRP channels. By transfection into melanoma cells, <a href="#10" class="mim-tip-reference" title="Oancea, E., Vriens, J., Brauchi, S., Jun, J., Splawski, I., Clapham, D. E. <strong>TRPM1 forms ion channels associated with melanin content in melanocytes.</strong> Sci. Signal. 2: ra21, 2009. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19436059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19436059</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19436059[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/scisignal.2000146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19436059">Oancea et al. (2009)</a> showed that TRPM1 isoforms containing 1,625 or 1,643 amino acids functioned as nonselective ion channels with a slight preference for Na+ over Ca(2+). TRPM1 mRNA abundance in human epidermal melanocytes correlated with melanin content. Melanocytes from dark-pigmented skin showed higher TRPM1 content than melanocytes obtained from light-pigmented skin. The complement of TRPM1 splice variants also differed between melanocytes from dark- and light-pigmented skin and between normal melanocytes and melanoma cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19436059" 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="#11" class="mim-tip-reference" title="van Genderen, M. M., Bijveld, M. M. C., Claassen, Y. B., Florijn, R. J., Pearring, J. N., Meire, F. M., McCall, M. A., Riemslag, F. C. C., Gregg, R. G., Bergen, A. A. B., Kamermans, M. <strong>Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.</strong> Am. J. Hum. Genet. 85: 730-736, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896109[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.10.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19896109">Van Genderen et al. (2009)</a> reacted transverse sections of normal human retina with antibodies to TRPM1 and presynaptic and cone terminal markers and observed dense TRPM1 puncta closely aligned with cone photoreceptor terminals, with weaker TRPM1 staining in the inner nuclear layer, associated with bipolar cell bodies. Staining for TRPM1 was closely associated with but did not overlap presynaptic labeling in large cone and small rod terminals. <a href="#11" class="mim-tip-reference" title="van Genderen, M. M., Bijveld, M. M. C., Claassen, Y. B., Florijn, R. J., Pearring, J. N., Meire, F. M., McCall, M. A., Riemslag, F. C. C., Gregg, R. G., Bergen, A. A. B., Kamermans, M. <strong>Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.</strong> Am. J. Hum. Genet. 85: 730-736, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896109[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.10.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19896109">Van Genderen et al. (2009)</a> concluded that, like nyctalopin (NYX; <a href="/entry/300278">300278</a>), TRPM1 is localized on rod ON bipolar cell dendrites in the outer plexiform layer of the retina, and suggested that in humans, TRPM1 is the cation channel gated by the GRM6 (<a href="/entry/604096">604096</a>) signaling cascade, which results in the light-evoked response of ON bipolar cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19896109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Koike, C., Obara, T., Uriu, Y., Numata, T., Sanuki, R., Miyata, K., Koyasu, T., Ueno, S., Funabiki, K., Tani, A., Ueda, H., Kondo, M., Mori, Y., Tachibana, M., Furukawa, T. <strong>TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade.</strong> Proc. Nat. Acad. Sci. 107: 332-337, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19966281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19966281</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19966281[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0912730107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19966281">Koike et al. (2010)</a> found that expression of the mouse Trpm1l isoform in Chinese hamster ovary cells resulted in constitutively active inward currents. Coexpression of Trpm1l with Go-alpha resulted in currents that were inhibited by Go-alpha activation, and expression of Mglur6 in addition to Trpm1l and Go-alpha resulted in channels that were inhibited by glutamate. Currents were recorded with all extracellular cations examined, suggesting that Trpm1l is a constitutively active nonselective cation channel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19966281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a consanguineous family of South Asian ethnicity with complete congenital stationary night blindness (CSNB1C; <a href="/entry/613216">613216</a>), <a href="#8" class="mim-tip-reference" title="Li, Z., Sergouniotis, P. I., Michaelides, M., Mackay, D. S., Wright, G. A., Devery, S., Moore, A. T., Holder, G. E., Robson, A. G., Webster, A. R. <strong>Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.</strong> Am. J. Hum. Genet. 85: 711-719, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19878917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19878917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19878917[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19878917">Li et al. (2009)</a> analyzed the candidate gene TRPM1 (<a href="/entry/603576">603576</a>) and identified homozygosity for a splice site mutation (<a href="#0001">603576.0001</a>) in the affected mother; the father was heterozygous for the mutation. <a href="#8" class="mim-tip-reference" title="Li, Z., Sergouniotis, P. I., Michaelides, M., Mackay, D. S., Wright, G. A., Devery, S., Moore, A. T., Holder, G. E., Robson, A. G., Webster, A. R. <strong>Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.</strong> Am. J. Hum. Genet. 85: 711-719, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19878917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19878917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19878917[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19878917">Li et al. (2009)</a> screened the TRPM1 gene in 9 families that were negative for mutation in the NYX and GRM6 genes and identified compound heterozygosity for a 1-bp deletion and a nonsense mutation and 2 missense mutations, respectively, in 2 families of Caucasian European descent (see, e.g., <a href="#0002">603576.0002</a>-<a href="#0003">603576.0003</a>). None of the mutations were found in 192 control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19878917" 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="#1" class="mim-tip-reference" title="Audo, I., Kohl, S., Leroy, B. P., Munier, F. L., Guillonneau, X., Mohand-Said, S., Bujakowska, K., Nandrot, E. F., Lorenz, B., Preising, M., Kellner, U., Renner, A. G., and 18 others. <strong>TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.</strong> Am. J. Hum. Genet. 85: 720-729, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896113</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896113[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.10.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19896113">Audo et al. (2009)</a> analyzed the TRPM1 gene in 38 clinically diagnosed CSNB patients and identified homozygosity or compound heterozygosity for 14 causative mutations in 10 unrelated patients, including missense, splice site, deletion, and nonsense mutations (see, e.g., <a href="#0004">603576.0004</a>-<a href="#0005">603576.0005</a>). <a href="#1" class="mim-tip-reference" title="Audo, I., Kohl, S., Leroy, B. P., Munier, F. L., Guillonneau, X., Mohand-Said, S., Bujakowska, K., Nandrot, E. F., Lorenz, B., Preising, M., Kellner, U., Renner, A. G., and 18 others. <strong>TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.</strong> Am. J. Hum. Genet. 85: 720-729, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896113</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896113[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.10.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19896113">Audo et al. (2009)</a> proposed that the complete CSNB phenotype in these patients was due to the absence of functional TRPM1 in retinal ON bipolar cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19896113" 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 6 of 8 female probands of European ancestry with complete CSNB, who were negative for mutation in GRM6 and NYX, <a href="#11" class="mim-tip-reference" title="van Genderen, M. M., Bijveld, M. M. C., Claassen, Y. B., Florijn, R. J., Pearring, J. N., Meire, F. M., McCall, M. A., Riemslag, F. C. C., Gregg, R. G., Bergen, A. A. B., Kamermans, M. <strong>Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.</strong> Am. J. Hum. Genet. 85: 730-736, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896109[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.10.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19896109">van Genderen et al. (2009)</a> identified mutations in TRPM1. Five probands carried either homozygous or compound heterozygous mutations (see, e.g., <a href="#0005">603576.0005</a>-<a href="#0007">603576.0007</a>), and in 1 proband, only a single heterozygous mutation was found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19896109" 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 3 unrelated Japanese patients with CSNB, <a href="#9" class="mim-tip-reference" title="Nakamura, M., Sanuki, R., Yasuma, T. R., Onishi, A., Nishiguchi, K. M., Koike, C., Kadowaki, M., Kondo, M., Miyake, Y., Furukawa, T. <strong>TRPM1 mutations are associated with the complete form of congenital stationary night blindness.</strong> Molec. Vision 16: 425-437, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20300565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20300565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20300565[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="20300565">Nakamura et al. (2010)</a> identified compound heterozygosity for 5 different mutations (see, e.g., <a href="#0008">603576.0008</a>-<a href="#0010">603576.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20300565" 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>The appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene, designated 'LP,' homozygosity for which is directly associated with CSNB in Appaloosa horses. <a href="#2" class="mim-tip-reference" title="Bellone, R. R., Brooks, S. A., Sandmeyer, L., Murphy, B. A., Forsyth, G., Archer, S., Bailey, E., Grahn, B. <strong>Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).</strong> Genetics 179: 1861-1870, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18660533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18660533</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18660533[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/10.1534/genetics.108.088807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18660533">Bellone et al. (2008)</a> analyzed the relative expression of 5 candidate genes located in the 6-cM LP region on horse chromosome 1 and found markedly reduced expression of TRPM1 in the retina and pigmented and unpigmented skin of homozygous LP/LP Appaloosa horses compared to non-Appaloosa lp/lp horses (p = 0.001 for all). <a href="#2" class="mim-tip-reference" title="Bellone, R. R., Brooks, S. A., Sandmeyer, L., Murphy, B. A., Forsyth, G., Archer, S., Bailey, E., Grahn, B. <strong>Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).</strong> Genetics 179: 1861-1870, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18660533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18660533</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18660533[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/10.1534/genetics.108.088807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18660533">Bellone et al. (2008)</a> concluded that decreased expression of TRPM1 in the eye and skin might alter bipolar cell signaling as well as melanocyte function, thus causing both CSNB and LP in horses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18660533" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Koike, C., Obara, T., Uriu, Y., Numata, T., Sanuki, R., Miyata, K., Koyasu, T., Ueno, S., Funabiki, K., Tani, A., Ueda, H., Kondo, M., Mori, Y., Tachibana, M., Furukawa, T. <strong>TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade.</strong> Proc. Nat. Acad. Sci. 107: 332-337, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19966281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19966281</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19966281[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0912730107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19966281">Koike et al. (2010)</a> found that Trpm1 -/- mice were indistinguishable from wildtype littermates in appearance, including coat color. However, whole-cell recording of retinal bipolar cells in retinal slices showed that light stimulated an inward current in wildtype rod and cone ON bipolar cells, but not in Trpm1 -/- ON bipolar cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19966281" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>10 Selected Examples</a>):</strong>
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<a href="/allelicVariants/603576" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603576[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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<strong>.0001 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C</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> rs766862238 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs766862238;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/rs766862238?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=rs766862238" 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=rs766862238" 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=RCV000006601" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006601" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006601</a>
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<p>In the affected mother of 2 affected daughters from a consanguineous family of South Asian ethnicity with complete congenital stationary night blindness (CSNB1C; <a href="/entry/613216">613216</a>), <a href="#8" class="mim-tip-reference" title="Li, Z., Sergouniotis, P. I., Michaelides, M., Mackay, D. S., Wright, G. A., Devery, S., Moore, A. T., Holder, G. E., Robson, A. G., Webster, A. R. <strong>Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.</strong> Am. J. Hum. Genet. 85: 711-719, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19878917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19878917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19878917[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19878917">Li et al. (2009)</a> identified homozygosity for a +2T-C transition at the splice donor site of intron 16 of the TRPM1 gene, predicted to abrogate the canonical donor sequence and affect efficient splicing of intron 16 of the gene. The unaffected father was heterozygous for the mutation, which was not found in 192 control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19878917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C</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">rs1226505973 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1226505973;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=rs1226505973" 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=rs1226505973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001963128 OR RCV002460350" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001963128, RCV002460350" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001963128...</a>
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<p>In a 36-year-old woman of Caucasian European descent with complete congenital stationary night blindness (CSNB1C; <a href="/entry/613216">613216</a>), <a href="#8" class="mim-tip-reference" title="Li, Z., Sergouniotis, P. I., Michaelides, M., Mackay, D. S., Wright, G. A., Devery, S., Moore, A. T., Holder, G. E., Robson, A. G., Webster, A. R. <strong>Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.</strong> Am. J. Hum. Genet. 85: 711-719, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19878917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19878917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19878917[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19878917">Li et al. (2009)</a> identified compound heterozygosity for a 1-bp deletion (412delG) and a 3105T-A transversion, resulting in a tyr1035-to-ter (Y1035X; <a href="#0003">603576.0003</a>) substitution in the TRPM1 gene, both causing premature termination codons predicted to result in nonsense-mediated decay of mRNA. Analysis of her unaffected mother, who had an entirely normal ERG, showed that the variants were in trans; the mutations were not found in 192 unrelated controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19878917" 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 id="0003" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0003 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C</strong>
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TRPM1, TYR1035TER
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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> rs267607140 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607140;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/rs267607140?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=rs267607140" 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=rs267607140" 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=RCV000006603 OR RCV003555943" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006603, RCV003555943" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006603...</a>
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<p>For discussion of the tyr1035-to-ter (Y1035X) mutation in the TRPM1 gene that was found in compound heterozygous state in a patient with complete congenital stationary night blindness (CSNB1C; <a href="/entry/613216">613216</a>) by <a href="#8" class="mim-tip-reference" title="Li, Z., Sergouniotis, P. I., Michaelides, M., Mackay, D. S., Wright, G. A., Devery, S., Moore, A. T., Holder, G. E., Robson, A. G., Webster, A. R. <strong>Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.</strong> Am. J. Hum. Genet. 85: 711-719, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19878917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19878917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19878917[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19878917">Li et al. (2009)</a>, see <a href="#0002">603576.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19878917" 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 id="0004" class="mim-anchor"></a>
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<strong>.0004 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C</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">rs267607141 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607141;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=rs267607141" 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=rs267607141" 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=RCV000006604" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006604" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006604</a>
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<p>In a German proband with complete congenital stationary night blindness (CSNB1C; <a href="/entry/613216">613216</a>), nystagmus, and myopia, <a href="#1" class="mim-tip-reference" title="Audo, I., Kohl, S., Leroy, B. P., Munier, F. L., Guillonneau, X., Mohand-Said, S., Bujakowska, K., Nandrot, E. F., Lorenz, B., Preising, M., Kellner, U., Renner, A. G., and 18 others. <strong>TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.</strong> Am. J. Hum. Genet. 85: 720-729, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896113</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896113[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.10.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19896113">Audo et al. (2009)</a> identified compound heterozygosity for a 31C-T transition in exon 3 of the TRPM1 gene, resulting in a gln11-to-ter (Q11X) substitution, and a 296T-C transition in exon 4, resulting in a leu99-to-pro (L99P; <a href="#0005">603576.0005</a>) substitution. The unaffected mother and 2 unaffected sibs were heterozygous for the nonsense mutation, which was not found in 352 control alleles, and the unaffected father was heterozygous for the missense mutation, which was not found in 224 control alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19896113" 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 id="0005" class="mim-anchor"></a>
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<strong>.0005 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C</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> rs191205969 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs191205969;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/rs191205969?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=rs191205969" 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=rs191205969" 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=RCV000006605 OR RCV000429578 OR RCV001074901" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006605, RCV000429578, RCV001074901" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006605...</a>
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<p>For discussion of the leu99-to-pro (L99P) mutation in the TRPM1 gene that was found in compound heterozygous state in a patient with complete congenital stationary night blindness (CSNB1C; <a href="/entry/613216">613216</a>) by <a href="#1" class="mim-tip-reference" title="Audo, I., Kohl, S., Leroy, B. P., Munier, F. L., Guillonneau, X., Mohand-Said, S., Bujakowska, K., Nandrot, E. F., Lorenz, B., Preising, M., Kellner, U., Renner, A. G., and 18 others. <strong>TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.</strong> Am. J. Hum. Genet. 85: 720-729, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896113</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896113[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.10.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19896113">Audo et al. (2009)</a>, see <a href="#0004">603576.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19896113" 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>For discussion of the L99P mutation in the TRPM1 gene that was found in compound heterozygous state in a patient with complete congenital stationary night blindness by <a href="#11" class="mim-tip-reference" title="van Genderen, M. M., Bijveld, M. M. C., Claassen, Y. B., Florijn, R. J., Pearring, J. N., Meire, F. M., McCall, M. A., Riemslag, F. C. C., Gregg, R. G., Bergen, A. A. B., Kamermans, M. <strong>Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.</strong> Am. J. Hum. Genet. 85: 730-736, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896109[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.10.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19896109">van Genderen et al. (2009)</a>, see <a href="#0006">603576.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19896109" 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> rs267607139 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607139;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/rs267607139?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=rs267607139" 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=rs267607139" 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 female patient with complete congenital stationary night blindness (CSNB1C; <a href="/entry/613216">613216</a>), <a href="#11" class="mim-tip-reference" title="van Genderen, M. M., Bijveld, M. M. C., Claassen, Y. B., Florijn, R. J., Pearring, J. N., Meire, F. M., McCall, M. A., Riemslag, F. C. C., Gregg, R. G., Bergen, A. A. B., Kamermans, M. <strong>Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.</strong> Am. J. Hum. Genet. 85: 730-736, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896109[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.10.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19896109">van Genderen et al. (2009)</a> identified compound heterozygosity for the L99P mutation in the TRPM1 gene (<a href="#0005">603576.0005</a>) and a 1832C-A transversion in exon 16, resulting in a pro611-to-his (P611H) substitution at a highly conserved residue. DNA from the parents was unavailable, but her unaffected sister and brother were each heterozygous for 1 of the mutations, respectively; neither mutation was detected in 210 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19896109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a female patient with complete congenital stationary night blindness (CSNB1C; <a href="/entry/613216">613216</a>), <a href="#11" class="mim-tip-reference" title="van Genderen, M. M., Bijveld, M. M. C., Claassen, Y. B., Florijn, R. J., Pearring, J. N., Meire, F. M., McCall, M. A., Riemslag, F. C. C., Gregg, R. G., Bergen, A. A. B., Kamermans, M. <strong>Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.</strong> Am. J. Hum. Genet. 85: 730-736, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896109[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.10.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19896109">van Genderen et al. (2009)</a> identified homozygosity for a 36,445-bp deletion involving exons 2 to 7 of the TRPM1 gene. The unaffected parents were heterozygous for the deletion, which was not found in her unaffected sister or in 210 control chromosomes. <a href="#11" class="mim-tip-reference" title="van Genderen, M. M., Bijveld, M. M. C., Claassen, Y. B., Florijn, R. J., Pearring, J. N., Meire, F. M., McCall, M. A., Riemslag, F. C. C., Gregg, R. G., Bergen, A. A. B., Kamermans, M. <strong>Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.</strong> Am. J. Hum. Genet. 85: 730-736, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896109[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.10.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19896109">Van Genderen et al. (2009)</a> noted that the deletion removes exons used in 4 isoforms described by <a href="#10" class="mim-tip-reference" title="Oancea, E., Vriens, J., Brauchi, S., Jun, J., Splawski, I., Clapham, D. E. <strong>TRPM1 forms ion channels associated with melanin content in melanocytes.</strong> Sci. Signal. 2: ra21, 2009. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19436059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19436059</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19436059[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/scisignal.2000146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19436059">Oancea et al. (2009)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19436059+19896109" 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> rs387906862 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906862;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/rs387906862?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=rs387906862" 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=rs387906862" 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 19-year-old Japanese man with congenital stationary night blindness (CSNB1C; <a href="/entry/613216">613216</a>), <a href="#9" class="mim-tip-reference" title="Nakamura, M., Sanuki, R., Yasuma, T. R., Onishi, A., Nishiguchi, K. M., Koike, C., Kadowaki, M., Kondo, M., Miyake, Y., Furukawa, T. <strong>TRPM1 mutations are associated with the complete form of congenital stationary night blindness.</strong> Molec. Vision 16: 425-437, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20300565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20300565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20300565[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="20300565">Nakamura et al. (2010)</a> identified compound heterozygous mutations in the TRPM1 gene: a 1870C-T transition in exon 16, resulting in an arg624-to-cys (R624C) substitution at a well-conserved residue in the N-terminal region, and a 2645C-A transversion in exon 21, resulting in a ser882-to-ter (S882X; <a href="#0009">603576.0009</a>) substitution. The R624C mutation was not found in 100 Japanese controls or in any SNP database, and functional analyses suggested that mutant R624C protein may be mislocalized in bipolar cells. An unrelated 27-year-old Japanese man with CSNB1C also carried the R624C mutation, in compound heterozygosity with a 4-bp deletion in intron 8 (IVS8+3delAAGT; <a href="#0010">603576.0010</a>) of the TRPM1 gene. Transfection studies in HEK293T cells showed that the splice site mutation leads to abnormal protein production, suggesting that IVS8+3delAAGT is a loss-of-function allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20300565" 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>For discussion of the ser882-to-ter (S882X) mutation in the TRPM1 gene that was found in compound heterozygous state in a patient with congenital stationary night blindness (CSNB1C; <a href="/entry/613216">613216</a>) by <a href="#9" class="mim-tip-reference" title="Nakamura, M., Sanuki, R., Yasuma, T. R., Onishi, A., Nishiguchi, K. M., Koike, C., Kadowaki, M., Kondo, M., Miyake, Y., Furukawa, T. <strong>TRPM1 mutations are associated with the complete form of congenital stationary night blindness.</strong> Molec. Vision 16: 425-437, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20300565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20300565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20300565[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="20300565">Nakamura et al. (2010)</a>, see <a href="#0008">603576.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20300565" 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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TRPM1, IVS8, 4-BP DEL, +3
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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> rs772011426 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs772011426;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/rs772011426?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=rs772011426" 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=rs772011426" 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=RCV000023312 OR RCV003556075" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023312, RCV003556075" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023312...</a>
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<p>For discussion of the splice site mutation in the TRPM1 gene (IVS8+3delAAGT) that was found in compound heterozygous state in a patient with congenital stationary night blindness (CSNB1C; <a href="/entry/613216">613216</a>) by <a href="#9" class="mim-tip-reference" title="Nakamura, M., Sanuki, R., Yasuma, T. R., Onishi, A., Nishiguchi, K. M., Koike, C., Kadowaki, M., Kondo, M., Miyake, Y., Furukawa, T. <strong>TRPM1 mutations are associated with the complete form of congenital stationary night blindness.</strong> Molec. Vision 16: 425-437, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20300565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20300565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20300565[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="20300565">Nakamura et al. (2010)</a>, see <a href="#0008">603576.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20300565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Audo2009" class="mim-anchor"></a>
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<div class="">
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Audo, I., Kohl, S., Leroy, B. P., Munier, F. L., Guillonneau, X., Mohand-Said, S., Bujakowska, K., Nandrot, E. F., Lorenz, B., Preising, M., Kellner, U., Renner, A. G., and 18 others.
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<strong>TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.</strong>
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Am. J. Hum. Genet. 85: 720-729, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896113</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896113[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=19896113" 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.ajhg.2009.10.013" target="_blank">Full Text</a>]
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<a id="Bellone2008" class="mim-anchor"></a>
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Bellone, R. R., Brooks, S. A., Sandmeyer, L., Murphy, B. A., Forsyth, G., Archer, S., Bailey, E., Grahn, B.
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<strong>Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).</strong>
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Genetics 179: 1861-1870, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18660533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18660533</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18660533[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=18660533" 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/10.1534/genetics.108.088807" target="_blank">Full Text</a>]
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<a id="Duncan1998" class="mim-anchor"></a>
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Duncan, L. M., Deeds, J., Hunter, J., Shao, J., Holmgren, L. M., Woolf, E. A., Tepper, R. I., Shyjan, A. W.
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<strong>Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis.</strong>
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Cancer Res. 58: 1515-1520, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9537257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9537257</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9537257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Fang2000" class="mim-anchor"></a>
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<p class="mim-text-font">
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Fang, D., Setaluri, V.
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<strong>Expression and up-regulation of alternatively spliced transcripts of melastatin, a melanoma metastasis-related gene, in human melanoma cells.</strong>
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Biochem. Biophys. Res. Commun. 279: 53-61, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11112417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11112417</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11112417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.2000.3894" target="_blank">Full Text</a>]
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<a id="Farooqi2011" class="mim-anchor"></a>
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Farooqi, A. A., Javeed, M. K., Javed, Z., Riaz, A. M., Mukhtar, S., Minhaj, S., Abbas, S., Bhatti, S.
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<strong>TRPM channels: same ballpark, different players, and different rules in immunogenetics.</strong>
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Immunogenetics 63: 773-787, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21932052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21932052</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21932052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00251-011-0570-4" target="_blank">Full Text</a>]
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<a id="Hunter1998" class="mim-anchor"></a>
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Hunter, J. J., Shao, J., Smutko, J. S., Dussault, B. J., Nagle, D. L., Woolf, E. A., Holmgren, L. M., Moore, K. J., Shyjan, A. W.
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<strong>Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1).</strong>
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Genomics 54: 116-123, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9806836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9806836</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9806836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1998.5549" target="_blank">Full Text</a>]
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<a id="Koike2010" class="mim-anchor"></a>
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<div class="">
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Koike, C., Obara, T., Uriu, Y., Numata, T., Sanuki, R., Miyata, K., Koyasu, T., Ueno, S., Funabiki, K., Tani, A., Ueda, H., Kondo, M., Mori, Y., Tachibana, M., Furukawa, T.
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<strong>TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade.</strong>
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Proc. Nat. Acad. Sci. 107: 332-337, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19966281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19966281</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19966281[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=19966281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0912730107" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Li2009" class="mim-anchor"></a>
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<div class="">
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Li, Z., Sergouniotis, P. I., Michaelides, M., Mackay, D. S., Wright, G. A., Devery, S., Moore, A. T., Holder, G. E., Robson, A. G., Webster, A. R.
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<strong>Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.</strong>
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Am. J. Hum. Genet. 85: 711-719, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19878917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19878917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19878917[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=19878917" 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.ajhg.2009.10.003" target="_blank">Full Text</a>]
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<a id="Nakamura2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nakamura, M., Sanuki, R., Yasuma, T. R., Onishi, A., Nishiguchi, K. M., Koike, C., Kadowaki, M., Kondo, M., Miyake, Y., Furukawa, T.
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<strong>TRPM1 mutations are associated with the complete form of congenital stationary night blindness.</strong>
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Molec. Vision 16: 425-437, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20300565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20300565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20300565[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=20300565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Oancea2009" class="mim-anchor"></a>
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Oancea, E., Vriens, J., Brauchi, S., Jun, J., Splawski, I., Clapham, D. E.
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<strong>TRPM1 forms ion channels associated with melanin content in melanocytes.</strong>
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Sci. Signal. 2: ra21, 2009. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19436059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19436059</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19436059[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=19436059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/scisignal.2000146" target="_blank">Full Text</a>]
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<a id="van Genderen2009" class="mim-anchor"></a>
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van Genderen, M. M., Bijveld, M. M. C., Claassen, Y. B., Florijn, R. J., Pearring, J. N., Meire, F. M., McCall, M. A., Riemslag, F. C. C., Gregg, R. G., Bergen, A. A. B., Kamermans, M.
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<strong>Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.</strong>
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Am. J. Hum. Genet. 85: 730-736, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896109[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=19896109" 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.ajhg.2009.10.012" target="_blank">Full Text</a>]
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<a id="Xu2001" class="mim-anchor"></a>
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Xu, X.-Z. S., Moebius, F., Gill, D. L., Montell, C.
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<strong>Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform.</strong>
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Proc. Nat. Acad. Sci. 98: 10692-10697, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11535825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11535825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11535825[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=11535825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.191360198" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Paul J. Converse - updated : 4/19/2012
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 9/13/2011<br>Patricia A. Hartz - updated : 7/11/2011<br>Marla J. F. O'Neill - updated : 1/6/2010<br>Patricia A. Hartz - updated : 12/2/2009<br>Patricia A. Hartz - updated : 8/6/2002
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Jennifer P. Macke : 2/23/1999
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</span>
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</div>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/29/2024
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 11/11/2022<br>alopez : 04/29/2015<br>mcolton : 4/20/2015<br>mgross : 4/25/2012<br>terry : 4/19/2012<br>carol : 9/14/2011<br>terry : 9/13/2011<br>mgross : 9/6/2011<br>terry : 7/11/2011<br>carol : 1/28/2010<br>wwang : 1/12/2010<br>terry : 1/6/2010<br>mgross : 12/2/2009<br>terry : 12/2/2009<br>terry : 11/22/2002<br>carol : 8/6/2002<br>carol : 1/15/2002<br>alopez : 2/23/1999
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603576
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</h3>
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<h3>
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<span class="mim-font">
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TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 1; TRPM1
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</h3>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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MELASTATIN 1; MLSN1
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TRPM1</em></strong>
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<strong>
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<em>
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Cytogenetic location: 15q13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:31,001,065-31,161,160 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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<h4>
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<span class="mim-font">
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<strong>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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<th>
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Location
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</th>
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Phenotype
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</th>
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Phenotype <br /> MIM number
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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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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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15q13.3
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<td>
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<span class="mim-font">
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Night blindness, congenital stationary (complete), 1C, autosomal recessive
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</td>
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<td>
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<span class="mim-font">
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613216
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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">
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3
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>TRPM1 is the founding member of the melastatin-related transient receptor (TRPM) channel family. TRPMs are Ca(2+)-permeable cation channels localized predominantly to the plasma membrane. The structural machinery of TRPM channels includes intracellular N and C termini, 6 transmembrane segments, and a pore region between segments 5 and 6. The N-terminal domain has a conserved region, and the C-terminal domain contains a TRP motif, a coiled-coil region, and, in some TRPM channels, an enzymatic domain (review by Farooqi et al., 2011). </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Duncan et al. (1998) used differential display PCR to identify an RNA sequence that was downregulated in highly metastatic mouse melanoma cells compared with poorly metastatic cells. They cloned the corresponding mouse cDNA, termed melastatin. Northern blot analysis of mouse tissues and cell lines revealed that melastatin was expressed as a 2.8-kb mRNA in normal eye and in 4 melanoma cell lines; its expression in each of the 4 cell lines was inversely proportional to metastatic potential. In 45 human melanocytic primary neoplasms examined by in situ hybridization, the loss of melastatin expression correlated with the thickness of the melanomas. </p><p>Hunter et al. (1998) cloned the human melastatin cDNA from a retina cDNA library. The gene encodes a 1,533-amino acid polypeptide with homology to members of the TRP family of calcium channels (see TRPC1; 602343). </p><p>Using differential display analysis, Fang and Setaluri (2000) identified TRPM1 among genes overexpressed in pigmented metastatic human melanoma cells treated with the differentiation inducer hexamethylene bisacetamide (HMBA). Multiple short transcripts, from both the 5-prime and 3-prime ends of TRPM1, were present in melanocytes and pigmented metastatic melanoma cell lines. The full-length 5.4-kb transcript was only found in melanocytes. </p><p>By RT-PCR of cDNA libraries derived from normal human melanocytes, retina, brain, and melanoma cell lines, Oancea et al. (2009) cloned 5 variants of TRPM1 that differ in their use of 5-prime exons and start codons. The deduced proteins contain 1,516 to 1,643 amino acids and differ only in the lengths of their N termini. The TRPM1 exons involved in alternative splicing are conserved across several mammalian species. </p><p>Koike et al. (2010) cloned a long form of mouse Trpm1, which they designated Trpm1l. The deduced 1,622-amino acid protein contains 6 transmembrane domains, a pore region, and a TRP domain. Northern blot analysis detected both Trpm1l and the short form of Trpm1, Trpm1s, in retina, but only Trpm1s was detected in skin. Trpm1 expression was not detected in other mouse tissues examined. Immunohistochemical analysis of mouse retina at postnatal day 14 revealed diffuse Trpm1l expression in bipolar cells. At 1 month of age, Trpm1l localized to dendritic tips in the outer plexiform layer. Trpm1l colocalized with Go-alpha (GNAO1; 139311) and Mglur6 (GRM6; 604096) in ON bipolar cells, but it did not colocalize with OFF bipolar cell markers. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Oancea et al. (2009) determined that the TRPM1 gene contains 29 exons, including the alternatively spliced exons 0 and 1-prime. </p><p>Hunter et al. (1998) cloned the mouse melastatin genomic region and found that the promoter contains 4 consensus binding sites for the microphthalmia-associated transcription factor (MITF; 156845). One of these binding sites is an M box, a motif shared by the tyrosinase pigmentation genes (see TYRP1; 115501). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hunter et al. (1998) used a radiation hybrid panel to map the human MLSN1 gene to chromosome 15q13-q14. They used interspecific backcrosses to map the mouse gene to chromosome 7. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Xu et al. (2001) found that TRPM1 mediated Ca(2+) entry when expressed in HEK293 cells. They found that a short form of TRPM1 interacted directly with and suppressed the activity of full-length TRPM1, possibly by inhibiting translocation of the full-length form to the plasma membrane. </p><p>Using Northern blot and RT-PCR analyses, Fang and Setaluri (2000) demonstrated that HMBA treatment upregulated expression of full-length TRPM1 and a 5-prime short form of TRPM1. </p><p>Oancea et al. (2009) showed that a nonselective, outwardly rectifying current measured in mouse melanoma cells was reduced by introducing a microRNA targeting Trpm1. The current was also blocked by lanthanum, a nonspecific blocker of many TRP channels. By transfection into melanoma cells, Oancea et al. (2009) showed that TRPM1 isoforms containing 1,625 or 1,643 amino acids functioned as nonselective ion channels with a slight preference for Na+ over Ca(2+). TRPM1 mRNA abundance in human epidermal melanocytes correlated with melanin content. Melanocytes from dark-pigmented skin showed higher TRPM1 content than melanocytes obtained from light-pigmented skin. The complement of TRPM1 splice variants also differed between melanocytes from dark- and light-pigmented skin and between normal melanocytes and melanoma cell lines. </p><p>Van Genderen et al. (2009) reacted transverse sections of normal human retina with antibodies to TRPM1 and presynaptic and cone terminal markers and observed dense TRPM1 puncta closely aligned with cone photoreceptor terminals, with weaker TRPM1 staining in the inner nuclear layer, associated with bipolar cell bodies. Staining for TRPM1 was closely associated with but did not overlap presynaptic labeling in large cone and small rod terminals. Van Genderen et al. (2009) concluded that, like nyctalopin (NYX; 300278), TRPM1 is localized on rod ON bipolar cell dendrites in the outer plexiform layer of the retina, and suggested that in humans, TRPM1 is the cation channel gated by the GRM6 (604096) signaling cascade, which results in the light-evoked response of ON bipolar cells. </p><p>Koike et al. (2010) found that expression of the mouse Trpm1l isoform in Chinese hamster ovary cells resulted in constitutively active inward currents. Coexpression of Trpm1l with Go-alpha resulted in currents that were inhibited by Go-alpha activation, and expression of Mglur6 in addition to Trpm1l and Go-alpha resulted in channels that were inhibited by glutamate. Currents were recorded with all extracellular cations examined, suggesting that Trpm1l is a constitutively active nonselective cation channel. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a consanguineous family of South Asian ethnicity with complete congenital stationary night blindness (CSNB1C; 613216), Li et al. (2009) analyzed the candidate gene TRPM1 (603576) and identified homozygosity for a splice site mutation (603576.0001) in the affected mother; the father was heterozygous for the mutation. Li et al. (2009) screened the TRPM1 gene in 9 families that were negative for mutation in the NYX and GRM6 genes and identified compound heterozygosity for a 1-bp deletion and a nonsense mutation and 2 missense mutations, respectively, in 2 families of Caucasian European descent (see, e.g., 603576.0002-603576.0003). None of the mutations were found in 192 control individuals. </p><p>Audo et al. (2009) analyzed the TRPM1 gene in 38 clinically diagnosed CSNB patients and identified homozygosity or compound heterozygosity for 14 causative mutations in 10 unrelated patients, including missense, splice site, deletion, and nonsense mutations (see, e.g., 603576.0004-603576.0005). Audo et al. (2009) proposed that the complete CSNB phenotype in these patients was due to the absence of functional TRPM1 in retinal ON bipolar cells. </p><p>In 6 of 8 female probands of European ancestry with complete CSNB, who were negative for mutation in GRM6 and NYX, van Genderen et al. (2009) identified mutations in TRPM1. Five probands carried either homozygous or compound heterozygous mutations (see, e.g., 603576.0005-603576.0007), and in 1 proband, only a single heterozygous mutation was found. </p><p>In 3 unrelated Japanese patients with CSNB, Nakamura et al. (2010) identified compound heterozygosity for 5 different mutations (see, e.g., 603576.0008-603576.0010). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene, designated 'LP,' homozygosity for which is directly associated with CSNB in Appaloosa horses. Bellone et al. (2008) analyzed the relative expression of 5 candidate genes located in the 6-cM LP region on horse chromosome 1 and found markedly reduced expression of TRPM1 in the retina and pigmented and unpigmented skin of homozygous LP/LP Appaloosa horses compared to non-Appaloosa lp/lp horses (p = 0.001 for all). Bellone et al. (2008) concluded that decreased expression of TRPM1 in the eye and skin might alter bipolar cell signaling as well as melanocyte function, thus causing both CSNB and LP in horses. </p><p>Koike et al. (2010) found that Trpm1 -/- mice were indistinguishable from wildtype littermates in appearance, including coat color. However, whole-cell recording of retinal bipolar cells in retinal slices showed that light stimulated an inward current in wildtype rod and cone ON bipolar cells, but not in Trpm1 -/- ON bipolar cells. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>10 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TRPM1, IVS16DS, T-C, +2
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<br />
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SNP: rs766862238,
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gnomAD: rs766862238,
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ClinVar: RCV000006601
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In the affected mother of 2 affected daughters from a consanguineous family of South Asian ethnicity with complete congenital stationary night blindness (CSNB1C; 613216), Li et al. (2009) identified homozygosity for a +2T-C transition at the splice donor site of intron 16 of the TRPM1 gene, predicted to abrogate the canonical donor sequence and affect efficient splicing of intron 16 of the gene. The unaffected father was heterozygous for the mutation, which was not found in 192 control individuals. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C</strong>
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</span>
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</h4>
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</div>
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<div>
|
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<span class="mim-text-font">
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TRPM1, 1-BP DEL, 412G
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<br />
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SNP: rs1226505973,
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ClinVar: RCV001963128, RCV002460350
|
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|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a 36-year-old woman of Caucasian European descent with complete congenital stationary night blindness (CSNB1C; 613216), Li et al. (2009) identified compound heterozygosity for a 1-bp deletion (412delG) and a 3105T-A transversion, resulting in a tyr1035-to-ter (Y1035X; 603576.0003) substitution in the TRPM1 gene, both causing premature termination codons predicted to result in nonsense-mediated decay of mRNA. Analysis of her unaffected mother, who had an entirely normal ERG, showed that the variants were in trans; the mutations were not found in 192 unrelated controls. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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TRPM1, TYR1035TER
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<br />
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SNP: rs267607140,
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gnomAD: rs267607140,
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ClinVar: RCV000006603, RCV003555943
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|
</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>For discussion of the tyr1035-to-ter (Y1035X) mutation in the TRPM1 gene that was found in compound heterozygous state in a patient with complete congenital stationary night blindness (CSNB1C; 613216) by Li et al. (2009), see 603576.0002. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</div>
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|
</div>
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|
<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRPM1, GLN11TER
|
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|
|
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<br />
|
|
|
|
SNP: rs267607141,
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|
|
|
|
|
|
|
ClinVar: RCV000006604
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a German proband with complete congenital stationary night blindness (CSNB1C; 613216), nystagmus, and myopia, Audo et al. (2009) identified compound heterozygosity for a 31C-T transition in exon 3 of the TRPM1 gene, resulting in a gln11-to-ter (Q11X) substitution, and a 296T-C transition in exon 4, resulting in a leu99-to-pro (L99P; 603576.0005) substitution. The unaffected mother and 2 unaffected sibs were heterozygous for the nonsense mutation, which was not found in 352 control alleles, and the unaffected father was heterozygous for the missense mutation, which was not found in 224 control alleles. </p>
|
|
</span>
|
|
</div>
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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<div>
|
|
<span class="mim-text-font">
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|
|
|
TRPM1, LEU99PRO
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<br />
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|
|
SNP: rs191205969,
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|
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|
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gnomAD: rs191205969,
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|
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|
|
|
ClinVar: RCV000006605, RCV000429578, RCV001074901
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the leu99-to-pro (L99P) mutation in the TRPM1 gene that was found in compound heterozygous state in a patient with complete congenital stationary night blindness (CSNB1C; 613216) by Audo et al. (2009), see 603576.0004. </p><p>For discussion of the L99P mutation in the TRPM1 gene that was found in compound heterozygous state in a patient with complete congenital stationary night blindness by van Genderen et al. (2009), see 603576.0006. </p>
|
|
</span>
|
|
</div>
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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|
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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<div>
|
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<span class="mim-text-font">
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|
|
|
TRPM1, PRO611HIS
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<br />
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|
|
SNP: rs267607139,
|
|
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|
|
|
gnomAD: rs267607139,
|
|
|
|
|
|
ClinVar: RCV000006606, RCV001073832
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female patient with complete congenital stationary night blindness (CSNB1C; 613216), van Genderen et al. (2009) identified compound heterozygosity for the L99P mutation in the TRPM1 gene (603576.0005) and a 1832C-A transversion in exon 16, resulting in a pro611-to-his (P611H) substitution at a highly conserved residue. DNA from the parents was unavailable, but her unaffected sister and brother were each heterozygous for 1 of the mutations, respectively; neither mutation was detected in 210 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRPM1, 36.4-KB DEL, EX2-7
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000006607
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female patient with complete congenital stationary night blindness (CSNB1C; 613216), van Genderen et al. (2009) identified homozygosity for a 36,445-bp deletion involving exons 2 to 7 of the TRPM1 gene. The unaffected parents were heterozygous for the deletion, which was not found in her unaffected sister or in 210 control chromosomes. Van Genderen et al. (2009) noted that the deletion removes exons used in 4 isoforms described by Oancea et al. (2009). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRPM1, ARG624CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906862,
|
|
|
|
|
|
gnomAD: rs387906862,
|
|
|
|
|
|
ClinVar: RCV000023310
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 19-year-old Japanese man with congenital stationary night blindness (CSNB1C; 613216), Nakamura et al. (2010) identified compound heterozygous mutations in the TRPM1 gene: a 1870C-T transition in exon 16, resulting in an arg624-to-cys (R624C) substitution at a well-conserved residue in the N-terminal region, and a 2645C-A transversion in exon 21, resulting in a ser882-to-ter (S882X; 603576.0009) substitution. The R624C mutation was not found in 100 Japanese controls or in any SNP database, and functional analyses suggested that mutant R624C protein may be mislocalized in bipolar cells. An unrelated 27-year-old Japanese man with CSNB1C also carried the R624C mutation, in compound heterozygosity with a 4-bp deletion in intron 8 (IVS8+3delAAGT; 603576.0010) of the TRPM1 gene. Transfection studies in HEK293T cells showed that the splice site mutation leads to abnormal protein production, suggesting that IVS8+3delAAGT is a loss-of-function allele. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRPM1, SER882TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786205113,
|
|
|
|
|
|
|
|
ClinVar: RCV000023311
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the ser882-to-ter (S882X) mutation in the TRPM1 gene that was found in compound heterozygous state in a patient with congenital stationary night blindness (CSNB1C; 613216) by Nakamura et al. (2010), see 603576.0008. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRPM1, IVS8, 4-BP DEL, +3
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs772011426,
|
|
|
|
|
|
gnomAD: rs772011426,
|
|
|
|
|
|
ClinVar: RCV000023312, RCV003556075
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the TRPM1 gene (IVS8+3delAAGT) that was found in compound heterozygous state in a patient with congenital stationary night blindness (CSNB1C; 613216) by Nakamura et al. (2010), see 603576.0008. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Audo, I., Kohl, S., Leroy, B. P., Munier, F. L., Guillonneau, X., Mohand-Said, S., Bujakowska, K., Nandrot, E. F., Lorenz, B., Preising, M., Kellner, U., Renner, A. G., and 18 others.
|
|
<strong>TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.</strong>
|
|
Am. J. Hum. Genet. 85: 720-729, 2009.
|
|
|
|
|
|
[PubMed: 19896113]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2009.10.013]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bellone, R. R., Brooks, S. A., Sandmeyer, L., Murphy, B. A., Forsyth, G., Archer, S., Bailey, E., Grahn, B.
|
|
<strong>Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).</strong>
|
|
Genetics 179: 1861-1870, 2008.
|
|
|
|
|
|
[PubMed: 18660533]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1534/genetics.108.088807]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Duncan, L. M., Deeds, J., Hunter, J., Shao, J., Holmgren, L. M., Woolf, E. A., Tepper, R. I., Shyjan, A. W.
|
|
<strong>Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis.</strong>
|
|
Cancer Res. 58: 1515-1520, 1998.
|
|
|
|
|
|
[PubMed: 9537257]
|
|
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fang, D., Setaluri, V.
|
|
<strong>Expression and up-regulation of alternatively spliced transcripts of melastatin, a melanoma metastasis-related gene, in human melanoma cells.</strong>
|
|
Biochem. Biophys. Res. Commun. 279: 53-61, 2000.
|
|
|
|
|
|
[PubMed: 11112417]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.2000.3894]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Farooqi, A. A., Javeed, M. K., Javed, Z., Riaz, A. M., Mukhtar, S., Minhaj, S., Abbas, S., Bhatti, S.
|
|
<strong>TRPM channels: same ballpark, different players, and different rules in immunogenetics.</strong>
|
|
Immunogenetics 63: 773-787, 2011.
|
|
|
|
|
|
[PubMed: 21932052]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00251-011-0570-4]
|
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hunter, J. J., Shao, J., Smutko, J. S., Dussault, B. J., Nagle, D. L., Woolf, E. A., Holmgren, L. M., Moore, K. J., Shyjan, A. W.
|
|
<strong>Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1).</strong>
|
|
Genomics 54: 116-123, 1998.
|
|
|
|
|
|
[PubMed: 9806836]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1998.5549]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Koike, C., Obara, T., Uriu, Y., Numata, T., Sanuki, R., Miyata, K., Koyasu, T., Ueno, S., Funabiki, K., Tani, A., Ueda, H., Kondo, M., Mori, Y., Tachibana, M., Furukawa, T.
|
|
<strong>TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade.</strong>
|
|
Proc. Nat. Acad. Sci. 107: 332-337, 2010.
|
|
|
|
|
|
[PubMed: 19966281]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0912730107]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Li, Z., Sergouniotis, P. I., Michaelides, M., Mackay, D. S., Wright, G. A., Devery, S., Moore, A. T., Holder, G. E., Robson, A. G., Webster, A. R.
|
|
<strong>Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.</strong>
|
|
Am. J. Hum. Genet. 85: 711-719, 2009.
|
|
|
|
|
|
[PubMed: 19878917]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2009.10.003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nakamura, M., Sanuki, R., Yasuma, T. R., Onishi, A., Nishiguchi, K. M., Koike, C., Kadowaki, M., Kondo, M., Miyake, Y., Furukawa, T.
|
|
<strong>TRPM1 mutations are associated with the complete form of congenital stationary night blindness.</strong>
|
|
Molec. Vision 16: 425-437, 2010.
|
|
|
|
|
|
[PubMed: 20300565]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Oancea, E., Vriens, J., Brauchi, S., Jun, J., Splawski, I., Clapham, D. E.
|
|
<strong>TRPM1 forms ion channels associated with melanin content in melanocytes.</strong>
|
|
Sci. Signal. 2: ra21, 2009. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 19436059]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/scisignal.2000146]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
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van Genderen, M. M., Bijveld, M. M. C., Claassen, Y. B., Florijn, R. J., Pearring, J. N., Meire, F. M., McCall, M. A., Riemslag, F. C. C., Gregg, R. G., Bergen, A. A. B., Kamermans, M.
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<strong>Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.</strong>
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Am. J. Hum. Genet. 85: 730-736, 2009.
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[PubMed: 19896109]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.10.012]
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Xu, X.-Z. S., Moebius, F., Gill, D. L., Montell, C.
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<strong>Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform.</strong>
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Proc. Nat. Acad. Sci. 98: 10692-10697, 2001.
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[PubMed: 11535825]
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[Full Text: https://doi.org/10.1073/pnas.191360198]
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Paul J. Converse - updated : 4/19/2012<br>Marla J. F. O'Neill - updated : 9/13/2011<br>Patricia A. Hartz - updated : 7/11/2011<br>Marla J. F. O'Neill - updated : 1/6/2010<br>Patricia A. Hartz - updated : 12/2/2009<br>Patricia A. Hartz - updated : 8/6/2002
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Jennifer P. Macke : 2/23/1999
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