3395 lines
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Entry
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- *605073 - TRIPARTITE MOTIF-CONTAINING PROTEIN 37; TRIM37
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- OMIM
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<p>
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<span class="h4">*605073</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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="#geneFunction">Gene Function</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="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/605073">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 role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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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 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-heading mim-panel-heading" role="tab" id="mimGenome">
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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=ENSG00000108395;t=ENST00000262294" 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=4591" 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=605073" 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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<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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</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=ENSG00000108395;t=ENST00000262294" 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_001005207,NM_001320987,NM_001320988,NM_001320989,NM_001320990,NM_001353082,NM_001353083,NM_001353084,NM_001353085,NM_001353086,NM_015294,NR_148346,NR_148347,XM_005257385,XM_011524831,XM_011524832,XM_011524833,XM_011524834,XM_011524836,XM_017024662,XM_017024663,XM_017024665,XM_017024667,XM_017024669,XM_017024670,XM_017024673,XM_047436106,XM_047436107,XM_047436108,XM_047436109,XM_047436110,XM_047436111,XM_047436112,XM_047436113,XM_047436114,XM_047436115,XM_047436116,XM_047436117,XM_047436118,XM_047436119,XM_047436120,XM_047436121,XM_047436122,XM_047436123,XM_047436124,XM_047436125,XM_047436126" 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_015294" 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=605073" 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=05463&isoform_id=05463_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/TRIM37" 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/15147333,17221827,23271192,31874005,52487176,55976224,119614830,119614831,119614832,119614833,158258355,158260371,193785670,194378408,530412266,767994844,767994846,767994848,767994850,767994854,929654176,1005261087,1005261089,1005261091,1005261127,1034599813,1034599816,1034599820,1034599824,1034599829,1034599831,1034599838,1211846604,1211846613,1211846630,1211848708,1211850079,2217312037,2217312040,2217312042,2217312045,2217312047,2217312050,2217312053,2217312055,2217312057,2217312059,2217312061,2217312064,2217312066,2217312068,2217312070,2217312073,2217312075,2217312077,2217312079,2217312081,2217312083,2462555425,2462555427,2462555429,2462555431,2462555433,2462555435,2462555437,2462555439,2462555441,2462555443,2462555445,2462555447,2462555449,2462555451,2462555453,2462555455,2462555457,2462555459,2462555461,2462555463,2462555465,2462555467,2462555469,2462555471,2462555473,2462555475,2462555477,2462555479,2462555481,2462555483,2462555485,2462555487,2462555489,2462555491,2462555493" 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/O94972" 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=4591" 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=ENSG00000108395;t=ENST00000262294" 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=TRIM37" 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=TRIM37" 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+4591" 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/TRIM37" 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:4591" 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/4591" 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=chr17&hgg_gene=ENST00000262294.12&hgg_start=58967201&hgg_end=59106880&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:7523" 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:7523" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605073[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=605073[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000108395" 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=TRIM37" 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=TRIM37" 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=TRIM37" 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=TRIM37&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/PA35497" 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:7523" 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://www.mousephenotype.org/data/genes/MGI:2153072" 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/TRIM37#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:2153072" 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/4591/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=4591" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-2957" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4591" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=TRIM37&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 81604003<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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605073
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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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TRIPARTITE MOTIF-CONTAINING PROTEIN 37; TRIM37
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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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MUL GENE<br />
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KIAA0898
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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=TRIM37" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TRIM37</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/17/794?start=-3&limit=10&highlight=794">17q22</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:58967201-59106880&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'})">17:58,967,201-59,106,880</a> </span>
|
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
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Location
|
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</th>
|
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<th>
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|
Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
|
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<tbody>
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<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/794?start=-3&limit=10&highlight=794">
|
|
17q22
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Mulibrey nanism
|
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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/253250"> 253250 </a>
|
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|
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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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/605073" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/605073" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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<p>The TRIM37 gene encodes a member of the RING B-box coiled-coil (RBCC) family of zinc finger proteins, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis (<a href="#1" class="mim-tip-reference" title="Avela, K., Lipsanen-Nyman, M., Idanheimo, N., Seemanova, E., Rosengren, S., Makela, T. P., Perheentupa, J., de la Chapelle, A., Lehesjoki, A.-E. <strong>Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism.</strong> Nature Genet. 25: 298-301, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10888877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10888877</a>] [<a href="https://doi.org/10.1038/77053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10888877">Avela et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from a size-fractionated brain cDNA library, <a href="#7" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 5: 355-364, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10048485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10048485</a>] [<a href="https://doi.org/10.1093/dnares/5.6.355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10048485">Nagase et al. (1998)</a> cloned TRIM37, which they designated KIAA0898. The deduced protein contains 979 amino acids. RT-PCR ELISA detected intermediate expression in brain, liver, testis, and ovary, low expression in heart, lung, skeletal muscle, and kidney, and little to no expression in pancreas and spleen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10048485" 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="Avela, K., Lipsanen-Nyman, M., Idanheimo, N., Seemanova, E., Rosengren, S., Makela, T. P., Perheentupa, J., de la Chapelle, A., Lehesjoki, A.-E. <strong>Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism.</strong> Nature Genet. 25: 298-301, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10888877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10888877</a>] [<a href="https://doi.org/10.1038/77053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10888877">Avela et al. (2000)</a> refined the critical region for mulibrey nanism (<a href="/entry/253250">253250</a>) to an 800-kb region on chromosome 17q22-q23. They identified the KIAA0898 cDNA as corresponding to the gene, symbolized MUL. The MUL protein contains a RING finger followed by a B-box motif and a coiled-coil domain. The RING finger and B-box domains chelate zinc and are thought to be involved in protein-protein and/or protein-nucleic acid interactions. Two nuclear localization signals, PAVEKRR and KRRK, are present at amino acid positions 847 and 851, respectively. Northern blot analysis detected ubiquitous expression of a 4.4-kb transcript. <a href="#1" class="mim-tip-reference" title="Avela, K., Lipsanen-Nyman, M., Idanheimo, N., Seemanova, E., Rosengren, S., Makela, T. P., Perheentupa, J., de la Chapelle, A., Lehesjoki, A.-E. <strong>Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism.</strong> Nature Genet. 25: 298-301, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10888877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10888877</a>] [<a href="https://doi.org/10.1038/77053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10888877">Avela et al. (2000)</a> predicted that MUL is a 108-kD nuclear protein. They identified homologous mouse and rat ESTs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888877" 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 searching for sequences containing TRAF-like domains (see TRAF1; <a href="/entry/601711">601711</a>), followed by RT-PCR of Jurkat human T-cell total RNA, <a href="#8" class="mim-tip-reference" title="Zapata, J. M., Pawlowski, K., Haas, E., Ware, C. F., Godzik, A., Reed, J. C. <strong>A diverse family of proteins containing tumor necrosis factor receptor-associated factor domains.</strong> J. Biol. Chem. 276: 24242-24252, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11279055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11279055</a>] [<a href="https://doi.org/10.1074/jbc.M100354200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11279055">Zapata et al. (2001)</a> cloned TRIM37, which they called MUL. The deduced protein contains an N-terminal RING finger domain, followed by a zinc finger B box, 2 coiled-coil regions, a central TRAF-like domain, a third coiled-coil domain, an acidic domain, 2 nuclear localization signals, and a second acidic domain. MUL localized to cytosolic bodies in transfected COS-7 cells. Mutation analysis indicated that the N-terminal domains, but not the TRAF-like domain, were required for punctate intracellular distribution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11279055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Zapata, J. M., Pawlowski, K., Haas, E., Ware, C. F., Godzik, A., Reed, J. C. <strong>A diverse family of proteins containing tumor necrosis factor receptor-associated factor domains.</strong> J. Biol. Chem. 276: 24242-24252, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11279055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11279055</a>] [<a href="https://doi.org/10.1074/jbc.M100354200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11279055">Zapata et al. (2001)</a> found that the TRAF-like domain of MUL could interact in vitro with all TRAF proteins tested and with itself. The TRAF-like domain also suppressed NFKB (see <a href="/entry/164011">164011</a>) induction by TRAF2 (<a href="/entry/601895">601895</a>), TRAF6 (<a href="/entry/602355">602355</a>), and some TRAF-binding TNF receptors (see <a href="/entry/191190">191190</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11279055" 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="Kallijarvi, J., Avela, K., Lipsanen-Nyman, M., Ulmanen, I., Lehesjoki, A.-E. <strong>The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder.</strong> Am. J. Hum. Genet. 70: 1215-1228, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11938494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11938494</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11938494[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/340256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11938494">Kallijarvi et al. (2002)</a> used transiently transfected cells and antibodies raised against the predicted TRIM37 protein to characterize the TRIM37 product and to determine its intracellular localization. They showed that the human TRIM37 cDNA encodes a peroxisomal protein with an apparent molecular weight of 130 kD. Peroxisomal localization was compromised in mutant protein representing the major Finnish TRIM37 mutation (<a href="#0001">605073.0001</a>) but was retained in the protein representing the minor Finnish mutation (<a href="#0002">605073.0002</a>). Colocalization of endogenous TRIM37 with peroxisomal markers was observed by double immunofluorescence staining. In human tissue sections, TRIM37 showed a granular cytoplasmic pattern. Endogenous TRIM37 was not imported into peroxisomes in fibroblasts with mutants of peroxin-1 (PEX1; <a href="/entry/602136">602136</a>) or peroxin-5 (PEX5; <a href="/entry/600414">600414</a>), but was imported normally in peroxin-7 (PEX7; <a href="/entry/601757">601757</a>)-deficient fibroblasts, giving further evidence for peroxisomal localization of TRIM37. Fibroblasts derived from patients with mulibrey nanism lack C-terminal TRIM37 immunoreactivity but stain normally for both peroxisomal matrix and membrane markers, suggesting apparently normal peroxisome biogenesis in the fibroblasts of these patients. Taken together, this molecular evidence was thought to indicate unequivocally that TRIM37 is located in the peroxisomes, and that mulibrey nanism should be classified as a peroxisomal disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11938494" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bhatnagar, S., Gazin, C., Chamberlain, L., Ou, J., Zhu, X., Tushir, J. S., Virbasius, C.-M., Lin, L., Zhu, L. J., Wajapeyee, N., Green, M. R. <strong>TRIM37 is a new histone H2A ubiquitin ligase and breast cancer oncoprotein.</strong> Nature 516: 116-120, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470042</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470042[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature13955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470042">Bhatnagar et al. (2014)</a> reported that TRIM37 monoubiquitinates histone H2A, a chromatin modification associated with transcriptional repression. They found that in human breast cancer cell lines containing amplified 17q23, TRIM37 is upregulated and, reciprocally, the major H2A ubiquitin ligase RNF2 (<a href="/entry/608985">608985</a>) is downregulated. ChIP-chip experiments in 17q23-amplified breast cancer cells identified many genes, including multiple tumor suppressors, whose promoters were bound by TRIM37 and enriched for ubiquitinated H2A. However, unlike RNF2, which is a subunit of polycomb repressive complex-1 (PRC1), <a href="#2" class="mim-tip-reference" title="Bhatnagar, S., Gazin, C., Chamberlain, L., Ou, J., Zhu, X., Tushir, J. S., Virbasius, C.-M., Lin, L., Zhu, L. J., Wajapeyee, N., Green, M. R. <strong>TRIM37 is a new histone H2A ubiquitin ligase and breast cancer oncoprotein.</strong> Nature 516: 116-120, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470042</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470042[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature13955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470042">Bhatnagar et al. (2014)</a> found that TRIM37 associates with PRC2. TRIM37, PRC2, and PRC1 are cobound to specific target genes, resulting in their transcriptional silencing. RNAi-mediated knockdown of TRIM37 results in loss of ubiquitinated H2A, dissociation of PRC1 and PRC2 from target promoters, and transcriptional reactivation of silenced genes. Knockdown of TRIM37 in human breast cancer cells containing amplified 17q23 substantially decreases tumor growth in mouse xenografts; conversely, ectopic expression of TRIM37 renders nontransformed cells tumorigenic. <a href="#2" class="mim-tip-reference" title="Bhatnagar, S., Gazin, C., Chamberlain, L., Ou, J., Zhu, X., Tushir, J. S., Virbasius, C.-M., Lin, L., Zhu, L. J., Wajapeyee, N., Green, M. R. <strong>TRIM37 is a new histone H2A ubiquitin ligase and breast cancer oncoprotein.</strong> Nature 516: 116-120, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470042</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470042[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature13955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470042">Bhatnagar et al. (2014)</a> concluded that their results revealed TRIM37 as an oncogenic H2A ubiquitin ligase that is overexpressed in a subset of breast cancers and promotes transformation by facilitating silencing of tumor suppressors and other genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25470042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By merit of its identification within the critical region for mulibrey nanism (<a href="#1" class="mim-tip-reference" title="Avela, K., Lipsanen-Nyman, M., Idanheimo, N., Seemanova, E., Rosengren, S., Makela, T. P., Perheentupa, J., de la Chapelle, A., Lehesjoki, A.-E. <strong>Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism.</strong> Nature Genet. 25: 298-301, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10888877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10888877</a>] [<a href="https://doi.org/10.1038/77053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10888877">Avela et al., 2000</a>), the TRIM37 gene maps to chromosome 17q22-q23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888877" 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 patients with mulibrey nanism (MUL; <a href="/entry/253250">253250</a>) from Finland, Czechoslovakia, and the United States, <a href="#1" class="mim-tip-reference" title="Avela, K., Lipsanen-Nyman, M., Idanheimo, N., Seemanova, E., Rosengren, S., Makela, T. P., Perheentupa, J., de la Chapelle, A., Lehesjoki, A.-E. <strong>Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism.</strong> Nature Genet. 25: 298-301, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10888877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10888877</a>] [<a href="https://doi.org/10.1038/77053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10888877">Avela et al. (2000)</a> identified 4 independent mutations in the MUL gene, each of which caused a frameshift and predicted premature termination of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Turkish family, <a href="#5" class="mim-tip-reference" title="Jagiello, P., Hammans, C., Wieczorek, S., Arning, L., Stefanski, A., Strehl, H., Epplen, J. T., Gencik, M. <strong>A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.</strong> Hum. Mutat. 21: 630-635, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12754710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12754710</a>] [<a href="https://doi.org/10.1002/humu.10220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12754710">Jagiello et al. (2003)</a> identified a novel mutation (<a href="#0005">605073.0005</a>) as the basis of mulibrey nanism. The mutation was identified by RT-PCR and direct cDNA sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12754710" 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 an 11-year-old boy with MUL, <a href="#3" class="mim-tip-reference" title="Bruzzaniti, S., Cirillo, E., Prencipe, R., Giardino, G., Lepore, M. T., Garziano, F., Perna, F., Procaccini, C., Mascolo, L., Pagano, C., Fattorusso, V., Mozzillo, E., Bifulco, M., Matarese, G., Franzese, A., Pignata, C., Galgani, M. <strong>CD4+ T cell defects in a mulibrey patient with specific TRIM37 mutations.</strong> Front. Immun. 11: 1742, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33042106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33042106</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33042106[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/10.3389/fimmu.2020.01742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33042106">Bruzzaniti et al. (2020)</a> identified a splice site mutation in the TRIM37 gene inherited from the father (<a href="#0008">605073.0008</a>) and a 17q22 deletion including the TRIM37 gene inherited from the mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33042106" 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>8 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605073[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs186251998 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs186251998;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/rs186251998?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=rs186251998" 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=rs186251998" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#1" class="mim-tip-reference" title="Avela, K., Lipsanen-Nyman, M., Idanheimo, N., Seemanova, E., Rosengren, S., Makela, T. P., Perheentupa, J., de la Chapelle, A., Lehesjoki, A.-E. <strong>Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism.</strong> Nature Genet. 25: 298-301, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10888877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10888877</a>] [<a href="https://doi.org/10.1038/77053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10888877">Avela et al. (2000)</a> found that the major Finnish mutation causing mulibrey nanism (MUL; <a href="/entry/253250">253250</a>), found in 98 of 100 Finnish MUL chromosomes, all with the same haplotype, was a 5-bp deletion at nucleotides 493-497 of the MUL cDNA. Sequencing of genomic DNA disclosed an A-to-G transition altering the consensus dinucleotide sequence of the 3-prime splice site (AG) at position -2 from nucleotide 493 of the cDNA and resulting in aberrant splicing at the next AG site. The cDNA deletion caused a frameshift and predicted a stop codon 10 codons downstream. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Avela, K., Lipsanen-Nyman, M., Idanheimo, N., Seemanova, E., Rosengren, S., Makela, T. P., Perheentupa, J., de la Chapelle, A., Lehesjoki, A.-E. <strong>Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism.</strong> Nature Genet. 25: 298-301, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10888877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10888877</a>] [<a href="https://doi.org/10.1038/77053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10888877">Avela et al. (2000)</a> found that each of 2 Finnish patients with mulibrey nanism (MUL; <a href="/entry/253250">253250</a>) were compound heterozygotes for the major Finnish mutation (<a href="#0001">605073.0001</a>) and a 1-bp deletion of a G at nucleotide 2212 of the cDNA. The mutation resulted in a frameshift and predicted a stop codon 30 codons downstream. These patients were not members of the same sibship nor were they closely related. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888877" 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 Czech patient with mulibrey nanism (MUL; <a href="/entry/253250">253250</a>) who was homozygous for a 'private' haplotype, <a href="#1" class="mim-tip-reference" title="Avela, K., Lipsanen-Nyman, M., Idanheimo, N., Seemanova, E., Rosengren, S., Makela, T. P., Perheentupa, J., de la Chapelle, A., Lehesjoki, A.-E. <strong>Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism.</strong> Nature Genet. 25: 298-301, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10888877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10888877</a>] [<a href="https://doi.org/10.1038/77053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10888877">Avela et al. (2000)</a> identified a homozygous 5-bp deletion of ACTTT at nucleotides 838-842 of the MUL cDNA, leading to a frameshift and a stop codon 55 codons downstream. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888877" 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">rs386834000 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386834000;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=rs386834000" 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=rs386834000" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an American patient with mulibrey nanism (MUL; <a href="/entry/253250">253250</a>), <a href="#1" class="mim-tip-reference" title="Avela, K., Lipsanen-Nyman, M., Idanheimo, N., Seemanova, E., Rosengren, S., Makela, T. P., Perheentupa, J., de la Chapelle, A., Lehesjoki, A.-E. <strong>Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism.</strong> Nature Genet. 25: 298-301, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10888877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10888877</a>] [<a href="https://doi.org/10.1038/77053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10888877">Avela et al. (2000)</a> found homozygosity for a 1-bp insertion of an A at nucleotide 1346 of the MUL cDNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 MULIBREY NANISM</strong>
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TRIM37, 8-BP DEL, NT855
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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> rs386834006 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386834006;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/rs386834006?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=rs386834006" 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=rs386834006" 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=RCV000049984" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000049984" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000049984</a>
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<p>In a Turkish family studied in Germany, <a href="#5" class="mim-tip-reference" title="Jagiello, P., Hammans, C., Wieczorek, S., Arning, L., Stefanski, A., Strehl, H., Epplen, J. T., Gencik, M. <strong>A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.</strong> Hum. Mutat. 21: 630-635, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12754710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12754710</a>] [<a href="https://doi.org/10.1002/humu.10220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12754710">Jagiello et al. (2003)</a> found that mulibrey nanism (MUL; <a href="/entry/253250">253250</a>) was cosegregating with a mutation in the TRIM37 gene. The mutation was an 8-bp deletion, removing nucleotides 855-862, which was situated in proximity to the 'Czech' mutation (<a href="#0003">605073.0003</a>), a 5-bp deletion removing nucleotides 838-842. The mutated allele had altered splicing. <a href="#5" class="mim-tip-reference" title="Jagiello, P., Hammans, C., Wieczorek, S., Arning, L., Stefanski, A., Strehl, H., Epplen, J. T., Gencik, M. <strong>A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.</strong> Hum. Mutat. 21: 630-635, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12754710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12754710</a>] [<a href="https://doi.org/10.1002/humu.10220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12754710">Jagiello et al. (2003)</a> could identify several splice variants, and characterized 5 of these. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12754710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 MULIBREY NANISM</strong>
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TRIM37, CYS109SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908391 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908391;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=rs121908391" 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=rs121908391" 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=RCV000005557 OR RCV004689410" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005557, RCV004689410" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005557...</a>
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<p>In an Australian child with mulibrey nanism (MUL; <a href="/entry/253250">253250</a>), <a href="#4" class="mim-tip-reference" title="Hamalainen, R. H., Mowat, D., Gabbett, M. T., O'Brien, T. A., Kallijarvi, J., Lehesjoki, A.-E. <strong>Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.</strong> Clin. Genet. 70: 473-479, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17100991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17100991</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00700.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17100991">Hamalainen et al. (2006)</a> identified compound heterozygosity for 2 mutations in the TRIM37 gene: a 326G-C transversion, resulting in a cys109-to-ser (C109S) substitution in the B-box domain, and an 860G-A transition in the splice donor site of exon 10, resulting in skipping of exon 10 and in-frame deletion of 17 amino acids from the TRAF domain (<a href="#0007">605073.0007</a>). Studies in COS-1 cells showed that both mutant proteins had diffuse cytoplasmic staining and retained ubiquitin ligase activity. The child first presented at age 10 months with short stature and facial dysmorphism and developed Wilms tumor at age 18 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17100991" 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="0007" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0007 MULIBREY NANISM</strong>
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TRIM37, 860G-A, EXON 10
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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> rs386834008 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386834008;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/rs386834008?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=rs386834008" 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=rs386834008" 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=RCV000005558 OR RCV000729885" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005558, RCV000729885" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005558...</a>
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<p>For discussion of the 860G-A mutation in the TRIM37 gene that was found in compound heterozygous state in a patient with mulibrey nanism (MUL; <a href="/entry/253250">253250</a>) by <a href="#4" class="mim-tip-reference" title="Hamalainen, R. H., Mowat, D., Gabbett, M. T., O'Brien, T. A., Kallijarvi, J., Lehesjoki, A.-E. <strong>Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.</strong> Clin. Genet. 70: 473-479, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17100991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17100991</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00700.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17100991">Hamalainen et al. (2006)</a>, see <a href="#0006">605073.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17100991" 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>.0008 MULIBREY NANISM</strong>
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TRIM37, IVS18, A-G, -12
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1409660715 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1409660715;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=rs1409660715" 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=rs1409660715" 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=RCV001418333" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001418333" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001418333</a>
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<p>In an 11-year-old boy with mulibrey nanism (MUL; <a href="/entry/253250">253250</a>), <a href="#3" class="mim-tip-reference" title="Bruzzaniti, S., Cirillo, E., Prencipe, R., Giardino, G., Lepore, M. T., Garziano, F., Perna, F., Procaccini, C., Mascolo, L., Pagano, C., Fattorusso, V., Mozzillo, E., Bifulco, M., Matarese, G., Franzese, A., Pignata, C., Galgani, M. <strong>CD4+ T cell defects in a mulibrey patient with specific TRIM37 mutations.</strong> Front. Immun. 11: 1742, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33042106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33042106</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33042106[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/10.3389/fimmu.2020.01742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33042106">Bruzzaniti et al. (2020)</a> identified a paternally inherited splice site mutation in intron 18 (c.1949-12A-G) of the TRIM37 gene and a maternally inherited deletion on chromosome 17q22 (chr17:57,086,110-57,229,241) including the TRIM37 gene. The mutation was found by exome sequencing and the deletion was found by SNP array. TRIM37 protein expression was reduced in patient-derived stimulated and unstimulated CD4+ and CD8+ cells, with a greater reduction in CD4+ cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33042106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Avela2000" class="mim-anchor"></a>
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Avela, K., Lipsanen-Nyman, M., Idanheimo, N., Seemanova, E., Rosengren, S., Makela, T. P., Perheentupa, J., de la Chapelle, A., Lehesjoki, A.-E.
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<strong>Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism.</strong>
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Nature Genet. 25: 298-301, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10888877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10888877</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/77053" target="_blank">Full Text</a>]
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Bhatnagar, S., Gazin, C., Chamberlain, L., Ou, J., Zhu, X., Tushir, J. S., Virbasius, C.-M., Lin, L., Zhu, L. J., Wajapeyee, N., Green, M. R.
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<strong>TRIM37 is a new histone H2A ubiquitin ligase and breast cancer oncoprotein.</strong>
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Nature 516: 116-120, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470042</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470042[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=25470042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature13955" target="_blank">Full Text</a>]
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<a id="Bruzzaniti2020" class="mim-anchor"></a>
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Bruzzaniti, S., Cirillo, E., Prencipe, R., Giardino, G., Lepore, M. T., Garziano, F., Perna, F., Procaccini, C., Mascolo, L., Pagano, C., Fattorusso, V., Mozzillo, E., Bifulco, M., Matarese, G., Franzese, A., Pignata, C., Galgani, M.
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<strong>CD4+ T cell defects in a mulibrey patient with specific TRIM37 mutations.</strong>
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Front. Immun. 11: 1742, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33042106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33042106</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33042106[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=33042106" 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/10.3389/fimmu.2020.01742" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Hamalainen2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hamalainen, R. H., Mowat, D., Gabbett, M. T., O'Brien, T. A., Kallijarvi, J., Lehesjoki, A.-E.
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<strong>Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.</strong>
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Clin. Genet. 70: 473-479, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17100991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17100991</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17100991" 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/10.1111/j.1399-0004.2006.00700.x" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Jagiello2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jagiello, P., Hammans, C., Wieczorek, S., Arning, L., Stefanski, A., Strehl, H., Epplen, J. T., Gencik, M.
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<strong>A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.</strong>
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Hum. Mutat. 21: 630-635, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12754710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12754710</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12754710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.10220" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Kallijarvi2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kallijarvi, J., Avela, K., Lipsanen-Nyman, M., Ulmanen, I., Lehesjoki, A.-E.
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<strong>The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder.</strong>
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Am. J. Hum. Genet. 70: 1215-1228, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11938494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11938494</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11938494[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=11938494" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/340256" target="_blank">Full Text</a>]
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Nagase1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 5: 355-364, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10048485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10048485</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10048485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/5.6.355" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Zapata2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zapata, J. M., Pawlowski, K., Haas, E., Ware, C. F., Godzik, A., Reed, J. C.
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<strong>A diverse family of proteins containing tumor necrosis factor receptor-associated factor domains.</strong>
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J. Biol. Chem. 276: 24242-24252, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11279055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11279055</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11279055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M100354200" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></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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Hilary J. Vernon - updated : 05/14/2021
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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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Ada Hamosh - updated : 1/15/2015<br>Cassandra L. Kniffin - updated : 5/7/2007<br>Patricia A. Hartz - updated : 6/13/2005<br>Victor A. McKusick - updated : 7/11/2003<br>Victor A. McKusick - updated : 5/17/2002
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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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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/23/2000
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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 : 09/08/2022
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/17/2021<br>carol : 05/14/2021<br>carol : 04/29/2021<br>carol : 04/29/2021<br>mcolton : 08/12/2015<br>alopez : 1/15/2015<br>carol : 12/30/2013<br>wwang : 5/29/2007<br>ckniffin : 5/7/2007<br>wwang : 7/7/2005<br>wwang : 6/28/2005<br>terry : 6/13/2005<br>cwells : 7/16/2003<br>terry : 7/11/2003<br>alopez : 5/22/2002<br>terry : 5/17/2002<br>mgross : 12/13/2001<br>carol : 11/27/2001<br>mcapotos : 7/20/2001<br>alopez : 6/23/2000<br>alopez : 6/23/2000
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 605073
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<div>
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<h3>
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<span class="mim-font">
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TRIPARTITE MOTIF-CONTAINING PROTEIN 37; TRIM37
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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MUL GENE<br />
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KIAA0898
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TRIM37</em></strong>
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</span>
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</p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 81604003;
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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: 17q22
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:58,967,201-59,106,880 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<span class="mim-font">
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17q22
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</td>
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<td>
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<span class="mim-font">
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Mulibrey nanism
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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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253250
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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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>The TRIM37 gene encodes a member of the RING B-box coiled-coil (RBCC) family of zinc finger proteins, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis (Avela et al., 2000). </p>
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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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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated brain cDNA library, Nagase et al. (1998) cloned TRIM37, which they designated KIAA0898. The deduced protein contains 979 amino acids. RT-PCR ELISA detected intermediate expression in brain, liver, testis, and ovary, low expression in heart, lung, skeletal muscle, and kidney, and little to no expression in pancreas and spleen. </p><p>Avela et al. (2000) refined the critical region for mulibrey nanism (253250) to an 800-kb region on chromosome 17q22-q23. They identified the KIAA0898 cDNA as corresponding to the gene, symbolized MUL. The MUL protein contains a RING finger followed by a B-box motif and a coiled-coil domain. The RING finger and B-box domains chelate zinc and are thought to be involved in protein-protein and/or protein-nucleic acid interactions. Two nuclear localization signals, PAVEKRR and KRRK, are present at amino acid positions 847 and 851, respectively. Northern blot analysis detected ubiquitous expression of a 4.4-kb transcript. Avela et al. (2000) predicted that MUL is a 108-kD nuclear protein. They identified homologous mouse and rat ESTs. </p><p>By searching for sequences containing TRAF-like domains (see TRAF1; 601711), followed by RT-PCR of Jurkat human T-cell total RNA, Zapata et al. (2001) cloned TRIM37, which they called MUL. The deduced protein contains an N-terminal RING finger domain, followed by a zinc finger B box, 2 coiled-coil regions, a central TRAF-like domain, a third coiled-coil domain, an acidic domain, 2 nuclear localization signals, and a second acidic domain. MUL localized to cytosolic bodies in transfected COS-7 cells. Mutation analysis indicated that the N-terminal domains, but not the TRAF-like domain, were required for punctate intracellular distribution. </p>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene 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>Zapata et al. (2001) found that the TRAF-like domain of MUL could interact in vitro with all TRAF proteins tested and with itself. The TRAF-like domain also suppressed NFKB (see 164011) induction by TRAF2 (601895), TRAF6 (602355), and some TRAF-binding TNF receptors (see 191190). </p><p>Kallijarvi et al. (2002) used transiently transfected cells and antibodies raised against the predicted TRIM37 protein to characterize the TRIM37 product and to determine its intracellular localization. They showed that the human TRIM37 cDNA encodes a peroxisomal protein with an apparent molecular weight of 130 kD. Peroxisomal localization was compromised in mutant protein representing the major Finnish TRIM37 mutation (605073.0001) but was retained in the protein representing the minor Finnish mutation (605073.0002). Colocalization of endogenous TRIM37 with peroxisomal markers was observed by double immunofluorescence staining. In human tissue sections, TRIM37 showed a granular cytoplasmic pattern. Endogenous TRIM37 was not imported into peroxisomes in fibroblasts with mutants of peroxin-1 (PEX1; 602136) or peroxin-5 (PEX5; 600414), but was imported normally in peroxin-7 (PEX7; 601757)-deficient fibroblasts, giving further evidence for peroxisomal localization of TRIM37. Fibroblasts derived from patients with mulibrey nanism lack C-terminal TRIM37 immunoreactivity but stain normally for both peroxisomal matrix and membrane markers, suggesting apparently normal peroxisome biogenesis in the fibroblasts of these patients. Taken together, this molecular evidence was thought to indicate unequivocally that TRIM37 is located in the peroxisomes, and that mulibrey nanism should be classified as a peroxisomal disorder. </p><p>Bhatnagar et al. (2014) reported that TRIM37 monoubiquitinates histone H2A, a chromatin modification associated with transcriptional repression. They found that in human breast cancer cell lines containing amplified 17q23, TRIM37 is upregulated and, reciprocally, the major H2A ubiquitin ligase RNF2 (608985) is downregulated. ChIP-chip experiments in 17q23-amplified breast cancer cells identified many genes, including multiple tumor suppressors, whose promoters were bound by TRIM37 and enriched for ubiquitinated H2A. However, unlike RNF2, which is a subunit of polycomb repressive complex-1 (PRC1), Bhatnagar et al. (2014) found that TRIM37 associates with PRC2. TRIM37, PRC2, and PRC1 are cobound to specific target genes, resulting in their transcriptional silencing. RNAi-mediated knockdown of TRIM37 results in loss of ubiquitinated H2A, dissociation of PRC1 and PRC2 from target promoters, and transcriptional reactivation of silenced genes. Knockdown of TRIM37 in human breast cancer cells containing amplified 17q23 substantially decreases tumor growth in mouse xenografts; conversely, ectopic expression of TRIM37 renders nontransformed cells tumorigenic. Bhatnagar et al. (2014) concluded that their results revealed TRIM37 as an oncogenic H2A ubiquitin ligase that is overexpressed in a subset of breast cancers and promotes transformation by facilitating silencing of tumor suppressors and other genes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By merit of its identification within the critical region for mulibrey nanism (Avela et al., 2000), the TRIM37 gene maps to chromosome 17q22-q23. </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 patients with mulibrey nanism (MUL; 253250) from Finland, Czechoslovakia, and the United States, Avela et al. (2000) identified 4 independent mutations in the MUL gene, each of which caused a frameshift and predicted premature termination of the protein. </p><p>In a Turkish family, Jagiello et al. (2003) identified a novel mutation (605073.0005) as the basis of mulibrey nanism. The mutation was identified by RT-PCR and direct cDNA sequencing. </p><p>In an 11-year-old boy with MUL, Bruzzaniti et al. (2020) identified a splice site mutation in the TRIM37 gene inherited from the father (605073.0008) and a 17q22 deletion including the TRIM37 gene inherited from the mother. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>8 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 MULIBREY NANISM</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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TRIM37, 5-BP DEL, NT493
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<br />
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SNP: rs186251998,
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gnomAD: rs186251998,
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ClinVar: RCV000005552, RCV003555925
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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>Avela et al. (2000) found that the major Finnish mutation causing mulibrey nanism (MUL; 253250), found in 98 of 100 Finnish MUL chromosomes, all with the same haplotype, was a 5-bp deletion at nucleotides 493-497 of the MUL cDNA. Sequencing of genomic DNA disclosed an A-to-G transition altering the consensus dinucleotide sequence of the 3-prime splice site (AG) at position -2 from nucleotide 493 of the cDNA and resulting in aberrant splicing at the next AG site. The cDNA deletion caused a frameshift and predicted a stop codon 10 codons downstream. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 MULIBREY NANISM</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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TRIM37, 1-BP DEL, 2212G
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<br />
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SNP: rs386833416,
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gnomAD: rs386833416,
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ClinVar: RCV000049981, RCV003556135
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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>Avela et al. (2000) found that each of 2 Finnish patients with mulibrey nanism (MUL; 253250) were compound heterozygotes for the major Finnish mutation (605073.0001) and a 1-bp deletion of a G at nucleotide 2212 of the cDNA. The mutation resulted in a frameshift and predicted a stop codon 30 codons downstream. These patients were not members of the same sibship nor were they closely related. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 MULIBREY NANISM</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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TRIM37, 5-BP DEL, NT838
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<br />
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SNP: rs386834007,
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ClinVar: RCV000049985
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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 Czech patient with mulibrey nanism (MUL; 253250) who was homozygous for a 'private' haplotype, Avela et al. (2000) identified a homozygous 5-bp deletion of ACTTT at nucleotides 838-842 of the MUL cDNA, leading to a frameshift and a stop codon 55 codons downstream. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>.0004 MULIBREY NANISM</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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TRIM37, 1-BP INS, 1346A
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<br />
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SNP: rs386834000,
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ClinVar: RCV000049977
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an American patient with mulibrey nanism (MUL; 253250), Avela et al. (2000) found homozygosity for a 1-bp insertion of an A at nucleotide 1346 of the MUL cDNA. </p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>.0005 MULIBREY NANISM</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRIM37, 8-BP DEL, NT855
|
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|
<br />
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|
|
SNP: rs386834006,
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|
|
|
|
|
gnomAD: rs386834006,
|
|
|
|
|
|
ClinVar: RCV000049984
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Turkish family studied in Germany, Jagiello et al. (2003) found that mulibrey nanism (MUL; 253250) was cosegregating with a mutation in the TRIM37 gene. The mutation was an 8-bp deletion, removing nucleotides 855-862, which was situated in proximity to the 'Czech' mutation (605073.0003), a 5-bp deletion removing nucleotides 838-842. The mutated allele had altered splicing. Jagiello et al. (2003) could identify several splice variants, and characterized 5 of these. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MULIBREY NANISM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRIM37, CYS109SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908391,
|
|
|
|
|
|
|
|
ClinVar: RCV000005557, RCV004689410
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Australian child with mulibrey nanism (MUL; 253250), Hamalainen et al. (2006) identified compound heterozygosity for 2 mutations in the TRIM37 gene: a 326G-C transversion, resulting in a cys109-to-ser (C109S) substitution in the B-box domain, and an 860G-A transition in the splice donor site of exon 10, resulting in skipping of exon 10 and in-frame deletion of 17 amino acids from the TRAF domain (605073.0007). Studies in COS-1 cells showed that both mutant proteins had diffuse cytoplasmic staining and retained ubiquitin ligase activity. The child first presented at age 10 months with short stature and facial dysmorphism and developed Wilms tumor at age 18 months. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 MULIBREY NANISM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRIM37, 860G-A, EXON 10
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs386834008,
|
|
|
|
|
|
gnomAD: rs386834008,
|
|
|
|
|
|
ClinVar: RCV000005558, RCV000729885
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 860G-A mutation in the TRIM37 gene that was found in compound heterozygous state in a patient with mulibrey nanism (MUL; 253250) by Hamalainen et al. (2006), see 605073.0006. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 MULIBREY NANISM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TRIM37, IVS18, A-G, -12
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1409660715,
|
|
|
|
|
|
|
|
ClinVar: RCV001418333
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 11-year-old boy with mulibrey nanism (MUL; 253250), Bruzzaniti et al. (2020) identified a paternally inherited splice site mutation in intron 18 (c.1949-12A-G) of the TRIM37 gene and a maternally inherited deletion on chromosome 17q22 (chr17:57,086,110-57,229,241) including the TRIM37 gene. The mutation was found by exome sequencing and the deletion was found by SNP array. TRIM37 protein expression was reduced in patient-derived stimulated and unstimulated CD4+ and CD8+ cells, with a greater reduction in CD4+ cells. </p>
|
|
</span>
|
|
</div>
|
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<div>
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<br />
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|
</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
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|
<p class="mim-text-font">
|
|
Avela, K., Lipsanen-Nyman, M., Idanheimo, N., Seemanova, E., Rosengren, S., Makela, T. P., Perheentupa, J., de la Chapelle, A., Lehesjoki, A.-E.
|
|
<strong>Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism.</strong>
|
|
Nature Genet. 25: 298-301, 2000.
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[PubMed: 10888877]
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[Full Text: https://doi.org/10.1038/77053]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bhatnagar, S., Gazin, C., Chamberlain, L., Ou, J., Zhu, X., Tushir, J. S., Virbasius, C.-M., Lin, L., Zhu, L. J., Wajapeyee, N., Green, M. R.
|
|
<strong>TRIM37 is a new histone H2A ubiquitin ligase and breast cancer oncoprotein.</strong>
|
|
Nature 516: 116-120, 2014.
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|
|
[PubMed: 25470042]
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[Full Text: https://doi.org/10.1038/nature13955]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bruzzaniti, S., Cirillo, E., Prencipe, R., Giardino, G., Lepore, M. T., Garziano, F., Perna, F., Procaccini, C., Mascolo, L., Pagano, C., Fattorusso, V., Mozzillo, E., Bifulco, M., Matarese, G., Franzese, A., Pignata, C., Galgani, M.
|
|
<strong>CD4+ T cell defects in a mulibrey patient with specific TRIM37 mutations.</strong>
|
|
Front. Immun. 11: 1742, 2020.
|
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|
|
[PubMed: 33042106]
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[Full Text: https://doi.org/10.3389/fimmu.2020.01742]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Hamalainen, R. H., Mowat, D., Gabbett, M. T., O'Brien, T. A., Kallijarvi, J., Lehesjoki, A.-E.
|
|
<strong>Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.</strong>
|
|
Clin. Genet. 70: 473-479, 2006.
|
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|
|
[PubMed: 17100991]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2006.00700.x]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Jagiello, P., Hammans, C., Wieczorek, S., Arning, L., Stefanski, A., Strehl, H., Epplen, J. T., Gencik, M.
|
|
<strong>A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.</strong>
|
|
Hum. Mutat. 21: 630-635, 2003.
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|
|
[PubMed: 12754710]
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[Full Text: https://doi.org/10.1002/humu.10220]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kallijarvi, J., Avela, K., Lipsanen-Nyman, M., Ulmanen, I., Lehesjoki, A.-E.
|
|
<strong>The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder.</strong>
|
|
Am. J. Hum. Genet. 70: 1215-1228, 2002.
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|
|
[PubMed: 11938494]
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[Full Text: https://doi.org/10.1086/340256]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
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Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 5: 355-364, 1998.
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[PubMed: 10048485]
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[Full Text: https://doi.org/10.1093/dnares/5.6.355]
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Zapata, J. M., Pawlowski, K., Haas, E., Ware, C. F., Godzik, A., Reed, J. C.
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<strong>A diverse family of proteins containing tumor necrosis factor receptor-associated factor domains.</strong>
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J. Biol. Chem. 276: 24242-24252, 2001.
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[PubMed: 11279055]
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[Full Text: https://doi.org/10.1074/jbc.M100354200]
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Hilary J. Vernon - updated : 05/14/2021<br>Ada Hamosh - updated : 1/15/2015<br>Cassandra L. Kniffin - updated : 5/7/2007<br>Patricia A. Hartz - updated : 6/13/2005<br>Victor A. McKusick - updated : 7/11/2003<br>Victor A. McKusick - updated : 5/17/2002
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Victor A. McKusick : 6/23/2000
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