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Entry
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- *616183 - TRANSMEMBRANE PROTEIN 107; TMEM107
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*616183</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<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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<li role="presentation">
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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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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/616183">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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000179029;t=ENST00000437139" 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=84314" 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=616183" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</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=ENSG00000179029;t=ENST00000437139" 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_001351278,NM_001351279,NM_001351280,NM_032354,NM_183065,NR_147092" 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_183065" 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=616183" 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://www.proteinatlas.org/search/TMEM107" 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/13751660,34101276,34101278,34535000,37182173,47123437,74738174,118341511,119610489,119610490,119610491,189055048,193786096,1189438187,1189438207,1189438295" 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/Q6UX40" 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=84314" 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=ENSG00000179029;t=ENST00000437139" 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=TMEM107" 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=TMEM107" 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+84314" 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/TMEM107" 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:84314" 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/84314" 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=ENST00000437139.7&hgg_start=8172457&hgg_end=8176380&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=616183[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=616183[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/ENSG00000179029" 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=TMEM107" 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=TMEM107" 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=TMEM107" 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=TMEM107&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/PA142670758" 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:28128" 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:1914160" 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/TMEM107#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:1914160" 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/84314/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=84314" 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-040426-2294" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=TMEM107&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
616183
|
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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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|
TRANSMEMBRANE PROTEIN 107; TMEM107
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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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
SCHLEI, MOUSE, HOMOLOG OF
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TMEM107" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TMEM107</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>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/17/198?start=-3&limit=10&highlight=198">17p13.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:8172457-8176380&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'})">17:8,172,457-8,176,380</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=617562,617562,617563" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/198?start=-3&limit=10&highlight=198">
|
|
17p13.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Joubert syndrome 29
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/617562"> 617562 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Meckel syndrome 13
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/617562"> 617562 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Orofaciodigital syndrome XVI
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/617563"> 617563 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
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|
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</tbody>
|
|
</table>
|
|
</div>
|
|
</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/616183" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/616183" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
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|
|
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|
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<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
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<p>The TMEM107 gene encodes a protein that localizes to the transition zone (TZ) at the proximal region of the ciliary axoneme. The TZ regulates ciliary composition and signaling by facilitating a protein diffusion barrier at the ciliary base (summary by <a href="#3" class="mim-tip-reference" title="Lambacher, N. J., Bruel, A.-L., van Dam, T. J. P., Szymanska, K., Slaats, G. G., Kuhns, S., McManus, G. J., Kennedy, J. E., Gaff, K., Wu, K. M., van der Lee, R., Burglen, L., and 12 others. <strong>TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.</strong> Nature Cell Biol. 18: 122-131, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26595381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26595381</a>] [<a href="https://doi.org/10.1038/ncb3273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26595381">Lambacher et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26595381" 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>Cilia are dynamic signaling organelles essential for developmental patterning, including left-right specification, skeletal formation, neural development, and organogenesis. TMEM107 is predicted to be critical for cilia formation and signaling in a subset of embryonic tissues (<a href="#1" class="mim-tip-reference" title="Christopher, K. J., Wang, B., Kong, Y., Weatherbee, S. D. <strong>Forward genetics uncovers transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling.</strong> Dev. Biol. 368: 382-392, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22698544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22698544</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22698544[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ydbio.2012.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22698544">Christopher et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22698544" 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="Christopher, K. J., Wang, B., Kong, Y., Weatherbee, S. D. <strong>Forward genetics uncovers transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling.</strong> Dev. Biol. 368: 382-392, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22698544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22698544</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22698544[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ydbio.2012.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22698544">Christopher et al. (2012)</a> reported that mouse and human TMEM107 contain 140 and 139 amino acids, respectively. Both have 4 transmembrane domains. TMEM107 orthologs are present in several species, including invertebrates. RT-PCR analysis detected Tmem107 expression in adult mouse liver, kidney, lung, eye, and brain, and in embryonic mouse limb, liver, and lung. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22698544" 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="#5" class="mim-tip-reference" title="Shylo, N. A., Christopher, K. J., Iglesias, A., Daluiski, A., Weatherbee, S. D. <strong>TMEM107 is a critical regulator of ciliary protein composition and is mutated in orofaciodigital syndrome.</strong> Hum. Mutat. 37: 155-159, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26518474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26518474</a>] [<a href="https://doi.org/10.1002/humu.22925" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26518474">Shylo et al. (2016)</a> found that TMEM107 localized to the proximal region of the ciliary axoneme, but not to the distal region of the cilia. TMEM107 was enriched in a region just distal to the basal body, suggesting that it may function within the TZ. TMEM107 colocalized with other TZ proteins, consistent with a role in regulating ciliary protein composition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26518474" 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="#2" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 1/12/2015."None>Hartz (2015)</a> mapped the TMEM107 gene to chromosome 17p13.1 based on an alignment of the TMEM107 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC006292" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC006292</a>) with the genomic sequence (GRCh38).</p><p><a href="#1" class="mim-tip-reference" title="Christopher, K. J., Wang, B., Kong, Y., Weatherbee, S. D. <strong>Forward genetics uncovers transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling.</strong> Dev. Biol. 368: 382-392, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22698544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22698544</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22698544[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ydbio.2012.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22698544">Christopher et al. (2012)</a> mapped the mouse Tmem107 gene to chromosome 11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22698544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Meckel Syndrome 13/Joubert Syndrome 29</em></strong></p><p>
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In 2 unrelated infants, born of consanguineous Saudi parents, with Meckel syndrome-13 (MKS13; <a href="/entry/617562">617562</a>), <a href="#4" class="mim-tip-reference" title="Shaheen, R., Almoisheer, A., Faqeih, E., Babay, Z., Monies, D., Tassan, N., Abouelhoda, M., Kurdi, W., Al Mardawi, E., Khalil, M. M. I., Seidahmed, M. Z., Alnemer, M., and 9 others. <strong>Identification of a novel MKS locus defined by TMEM107 mutation.</strong> Hum. Molec. Genet. 24: 5211-5218, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26123494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26123494</a>] [<a href="https://doi.org/10.1093/hmg/ddv242" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26123494">Shaheen et al. (2015)</a> identified a homozygous loss-of-function mutation in the TMEM107 gene (<a href="#0001">616183.0001</a>). The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing, segregated with the disorder in both families; haplotype analysis indicated a founder effect. Patient cells showed a significant reduction in the number of ciliated cells compared to control cells, as well as abnormal cilia that were excessively elongated with a curly pattern. Patient fibroblasts also showed suppression of SHH (<a href="/entry/600725">600725</a>) signaling and reduced translocation of SMO (<a href="/entry/601500">601500</a>) to the cilium compared to control cells. The findings, similar to those observed in mice with loss of Tmem107 function (see ANIMAL MODEL), suggested that loss of TMEM107 impairs ciliogenesis. The families were from a cohort of 25 MKS families who underwent genetic analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26123494" 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 22-year-old man with Joubert syndrome-29 (JBTS29; see <a href="/entry/617562">617562</a>), <a href="#3" class="mim-tip-reference" title="Lambacher, N. J., Bruel, A.-L., van Dam, T. J. P., Szymanska, K., Slaats, G. G., Kuhns, S., McManus, G. J., Kennedy, J. E., Gaff, K., Wu, K. M., van der Lee, R., Burglen, L., and 12 others. <strong>TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.</strong> Nature Cell Biol. 18: 122-131, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26595381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26595381</a>] [<a href="https://doi.org/10.1038/ncb3273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26595381">Lambacher et al. (2016)</a> identified compound heterozygous mutations in the TMEM107 gene (<a href="#0002">616183.0002</a> and <a href="#0004">616183.0004</a>). The mutations segregated with the disorder in the family. Patient fibroblasts showed reduced ciliation, and the cilia that formed were abnormally long. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26595381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Orofaciodigital Syndrome XVI</em></strong></p><p>
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In female twins, born of consanguineous parents, with orofaciodigital syndrome XVI (OFD16; <a href="/entry/617563">617563</a>), <a href="#3" class="mim-tip-reference" title="Lambacher, N. J., Bruel, A.-L., van Dam, T. J. P., Szymanska, K., Slaats, G. G., Kuhns, S., McManus, G. J., Kennedy, J. E., Gaff, K., Wu, K. M., van der Lee, R., Burglen, L., and 12 others. <strong>TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.</strong> Nature Cell Biol. 18: 122-131, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26595381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26595381</a>] [<a href="https://doi.org/10.1038/ncb3273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26595381">Lambacher et al. (2016)</a> identified a homozygous missense mutation in the TMEM107 gene (E45G; <a href="#0003">616183.0003</a>). The mutation segregated with the disorder in the family and was not found in the Exome Variant Server or ExAC databases. The E45G mutant protein retained the ability to localize to the TZ, indicating that the mutation disrupted TMEM107 functions at the TZ, rather than having a gross effect on TMEM107 localization or stability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26595381" 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 patient with OFD16, <a href="#5" class="mim-tip-reference" title="Shylo, N. A., Christopher, K. J., Iglesias, A., Daluiski, A., Weatherbee, S. D. <strong>TMEM107 is a critical regulator of ciliary protein composition and is mutated in orofaciodigital syndrome.</strong> Hum. Mutat. 37: 155-159, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26518474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26518474</a>] [<a href="https://doi.org/10.1002/humu.22925" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26518474">Shylo et al. (2016)</a> identified a homozygous in-frame deletion in the TMEM107 gene (phe106del; <a href="#0002">616183.0002</a>). Patient cells showed fewer cilia, and cilia that were formed had a very broad range of lengths compared to controls. The findings indicated that the mutation disrupted cilia formation or maintenance. Patient cilia also showed loss of certain TZ proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26518474" 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>Using a forward genetic screen, <a href="#1" class="mim-tip-reference" title="Christopher, K. J., Wang, B., Kong, Y., Weatherbee, S. D. <strong>Forward genetics uncovers transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling.</strong> Dev. Biol. 368: 382-392, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22698544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22698544</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22698544[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ydbio.2012.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22698544">Christopher et al. (2012)</a> created the 'schlei' mutant mouse, which exhibited preaxial polydactyly, exencephaly, and disrupted ventral neural tube patterning. The defects were consistent with defective ciliary signaling via Shh (<a href="/entry/600725">600725</a>). Schlei mutants had reduced numbers of cilia in limb mesenchyme and in the lumen of the neural tube. They also had bulged or curled cilia, abnormally thin cilia in the neural tube, and changes in the positions of neural progenitors, consistent with altered fields of Shh responsiveness. Schlei mutant embryos showed normal nodal cilia and normal left-right patterning, and they lacked kidney or liver cysts. <a href="#1" class="mim-tip-reference" title="Christopher, K. J., Wang, B., Kong, Y., Weatherbee, S. D. <strong>Forward genetics uncovers transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling.</strong> Dev. Biol. 368: 382-392, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22698544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22698544</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22698544[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ydbio.2012.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22698544">Christopher et al. (2012)</a> identified the schlei mutation as an A-to-G transition in the Tmem107 gene, resulting in the substitution of a highly conserved glutamic acid with glycine (E125G) in transmembrane domain-4. Analysis of embryos doubly mutant for schlei and various components of the Shh pathway showed that Tmem107 functioned downstream of Shh, Ptch1 (<a href="/entry/601309">601309</a>), and Smo (SMOH; <a href="/entry/601500">601500</a>) and acted synergistically with Gli2 (<a href="/entry/165230">165230</a>) and Gli3 (<a href="/entry/165240">165240</a>) to pattern ventral and intermediate neuronal cell types. Expanded expression of the Shh targets Gli1 (GLI; <a href="/entry/165220">165220</a>) and gremlin (<a href="/entry/603054">603054</a>) in schlei mutant limbs suggested a broadened response to Shh signaling, and the schlei mutation reduced Gli3 function to regulate digit number, but not identity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22698544" 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">rs1131692180 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1131692180;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=rs1131692180" 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=rs1131692180" 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=RCV000495829" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000495829" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000495829</a>
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<p>In 2 unrelated infants, born of consanguineous Saudi parents, with Meckel syndrome-13 (MKS13; <a href="/entry/617562">617562</a>), <a href="#4" class="mim-tip-reference" title="Shaheen, R., Almoisheer, A., Faqeih, E., Babay, Z., Monies, D., Tassan, N., Abouelhoda, M., Kurdi, W., Al Mardawi, E., Khalil, M. M. I., Seidahmed, M. Z., Alnemer, M., and 9 others. <strong>Identification of a novel MKS locus defined by TMEM107 mutation.</strong> Hum. Molec. Genet. 24: 5211-5218, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26123494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26123494</a>] [<a href="https://doi.org/10.1093/hmg/ddv242" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26123494">Shaheen et al. (2015)</a> identified a homozygous G-to-A transition in intron 3 of the TMEM107 gene (c.274+1G-A, NM_032354.3), resulting in a splice site alteration, a frameshift, and premature termination (Ser92CysfsTer7). The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing, segregated with the disorder in both families. It was not found in the ExAC database or in 573 control Saudi exomes. Haplotype analysis indicated a founder effect. Studies of patient cells showed an overall reduction of mRNA, likely due to nonsense-mediated decay, as well as an altered transcript, consistent with a loss of function. Patient cells showed a significant reduction in the number of ciliated cells compared to controls, as well as abnormal cilia that were excessively elongated with a curly pattern. Patient fibroblasts also showed suppression of SHH (<a href="/entry/600725">600725</a>) signaling and reduced translocation of SMO (<a href="/entry/601500">601500</a>) to the cilium compared to control cells. The findings, similar to those observed in mice with loss of Tmem107 function, suggested that loss of TMEM107 impairs ciliogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26123494" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs752171066 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs752171066;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/rs752171066?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=rs752171066" 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=rs752171066" 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=RCV000236136 OR RCV000495826 OR RCV000495831" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000236136, RCV000495826, RCV000495831" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000236136...</a>
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<p>In a patient with orofaciodigital syndrome XVI (OFD16; <a href="/entry/617563">617563</a>), <a href="#5" class="mim-tip-reference" title="Shylo, N. A., Christopher, K. J., Iglesias, A., Daluiski, A., Weatherbee, S. D. <strong>TMEM107 is a critical regulator of ciliary protein composition and is mutated in orofaciodigital syndrome.</strong> Hum. Mutat. 37: 155-159, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26518474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26518474</a>] [<a href="https://doi.org/10.1002/humu.22925" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26518474">Shylo et al. (2016)</a> identified a homozygous 3-bp deletion (c.316delTTC, NM_032354.3) in the TMEM107 gene, resulting in an in-frame deletion of a conserved residue (phe106del, F106del) in the third transmembrane domain. Patient cells showed fewer cilia, and cilia that were formed had a very broad range of lengths compared to controls. The findings indicated that the mutation disrupted cilia formation or maintenance. Patient cilia also showed loss of certain transition zone (TZ) proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26518474" 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 22-year-old man with Joubert syndrome-29 (JBTS29; see <a href="/entry/617562">617562</a>), <a href="#3" class="mim-tip-reference" title="Lambacher, N. J., Bruel, A.-L., van Dam, T. J. P., Szymanska, K., Slaats, G. G., Kuhns, S., McManus, G. J., Kennedy, J. E., Gaff, K., Wu, K. M., van der Lee, R., Burglen, L., and 12 others. <strong>TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.</strong> Nature Cell Biol. 18: 122-131, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26595381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26595381</a>] [<a href="https://doi.org/10.1038/ncb3273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26595381">Lambacher et al. (2016)</a> identified compound heterozygous mutations in the TMEM107 gene: F106del (g.8077890_8077893delGAA) and a 1-bp deletion resulting in a frameshift and premature termination (Leu134PhefsTer8; <a href="#0004">616183.0004</a>). The mutations segregated with the disorder in the family and were not found in the Exome Variant Server or ExAC databases. Patient fibroblasts showed reduced ciliation, and the cilia that formed were abnormally long. The F106del mutant protein retained the ability to localize to the TZ, indicating that the mutation disrupted TMEM107 functions at the TZ, rather than having a gross effect on TMEM107 localization or stability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26595381" 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">rs1555526172 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555526172;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=rs1555526172" 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=rs1555526172" 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=RCV000495828 OR RCV003558402 OR RCV004767304" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000495828, RCV003558402, RCV004767304" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000495828...</a>
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<p>In female twins, born of consanguineous parents, with orofaciodigital syndrome XVI (OFD16; <a href="/entry/617563">617563</a>), <a href="#3" class="mim-tip-reference" title="Lambacher, N. J., Bruel, A.-L., van Dam, T. J. P., Szymanska, K., Slaats, G. G., Kuhns, S., McManus, G. J., Kennedy, J. E., Gaff, K., Wu, K. M., van der Lee, R., Burglen, L., and 12 others. <strong>TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.</strong> Nature Cell Biol. 18: 122-131, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26595381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26595381</a>] [<a href="https://doi.org/10.1038/ncb3273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26595381">Lambacher et al. (2016)</a> identified a homozygous mutation in the TMEM107 gene (g.8079298T-C), resulting in a glu45-to-gly (E45G) substitution. The mutation segregated with the disorder in the family and was not found in the Exome Variant Server or ExAC databases. The E45G mutant protein retained the ability to localize to the TZ, indicating that the mutation disrupted TMEM107 functions at the TZ, rather than having a gross effect on TMEM107 localization or stability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26595381" 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>.0004 JOUBERT SYNDROME 29 (1 patient)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555525895 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555525895;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=rs1555525895" 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=rs1555525895" 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=RCV000495830" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000495830" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000495830</a>
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<p>In a 22-year-old man with Joubert syndrome-29 (JBTS29; see <a href="/entry/617562">617562</a>), <a href="#3" class="mim-tip-reference" title="Lambacher, N. J., Bruel, A.-L., van Dam, T. J. P., Szymanska, K., Slaats, G. G., Kuhns, S., McManus, G. J., Kennedy, J. E., Gaff, K., Wu, K. M., van der Lee, R., Burglen, L., and 12 others. <strong>TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.</strong> Nature Cell Biol. 18: 122-131, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26595381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26595381</a>] [<a href="https://doi.org/10.1038/ncb3273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26595381">Lambacher et al. (2016)</a> identified compound heterozygous mutations in the TMEM107 gene: a 1-bp deletion (g.8077560delT) resulting in a frameshift and premature termination (Leu134PhefsTer8) and an in-frame deletion (phe106del; <a href="#0002">616183.0002</a>). The mutations segregated with the disorder in the family and were not found in the Exome Variant Server or ExAC databases. Patient fibroblasts showed reduced ciliation, and the cilia that formed were abnormally long. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26595381" 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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Christopher, K. J., Wang, B., Kong, Y., Weatherbee, S. D.
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<strong>Forward genetics uncovers transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling.</strong>
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Dev. Biol. 368: 382-392, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22698544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22698544</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22698544[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=22698544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ydbio.2012.06.008" target="_blank">Full Text</a>]
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<strong>Personal Communication.</strong>
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<p class="mim-text-font">
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Lambacher, N. J., Bruel, A.-L., van Dam, T. J. P., Szymanska, K., Slaats, G. G., Kuhns, S., McManus, G. J., Kennedy, J. E., Gaff, K., Wu, K. M., van der Lee, R., Burglen, L., and 12 others.
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<strong>TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.</strong>
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Nature Cell Biol. 18: 122-131, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26595381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26595381</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26595381" 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/ncb3273" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Shaheen2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shaheen, R., Almoisheer, A., Faqeih, E., Babay, Z., Monies, D., Tassan, N., Abouelhoda, M., Kurdi, W., Al Mardawi, E., Khalil, M. M. I., Seidahmed, M. Z., Alnemer, M., and 9 others.
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<strong>Identification of a novel MKS locus defined by TMEM107 mutation.</strong>
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Hum. Molec. Genet. 24: 5211-5218, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26123494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26123494</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26123494" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddv242" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Shylo2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shylo, N. A., Christopher, K. J., Iglesias, A., Daluiski, A., Weatherbee, S. D.
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<strong>TMEM107 is a critical regulator of ciliary protein composition and is mutated in orofaciodigital syndrome.</strong>
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Hum. Mutat. 37: 155-159, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26518474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26518474</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26518474" 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.22925" target="_blank">Full Text</a>]
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</ol>
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Contributors:
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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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Cassandra L. Kniffin - updated : 07/11/2017
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<a id="creationDate" class="mim-anchor"></a>
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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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Patricia A. Hartz : 1/12/2015
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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 : 07/14/2017
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<span class="mim-text-font">
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alopez : 07/13/2017<br>alopez : 07/13/2017<br>alopez : 07/13/2017<br>ckniffin : 07/11/2017<br>mgross : 01/13/2015<br>mcolton : 1/12/2015
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<span class="mim-font">
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<strong>*</strong> 616183
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<h3>
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<span class="mim-font">
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TRANSMEMBRANE PROTEIN 107; TMEM107
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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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<span class="mim-font">
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SCHLEI, MOUSE, HOMOLOG OF
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TMEM107</em></strong>
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<strong>
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<em>
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Cytogenetic location: 17p13.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:8,172,457-8,176,380 </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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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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<th>
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Phenotype <br /> mapping key
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<td rowspan="3">
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<span class="mim-font">
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17p13.1
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<td>
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<span class="mim-font">
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?Joubert syndrome 29
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<span class="mim-font">
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617562
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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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</td>
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<span class="mim-font">
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Meckel syndrome 13
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<span class="mim-font">
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617562
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<span class="mim-font">
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Autosomal recessive
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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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Orofaciodigital syndrome XVI
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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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617563
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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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 TMEM107 gene encodes a protein that localizes to the transition zone (TZ) at the proximal region of the ciliary axoneme. The TZ regulates ciliary composition and signaling by facilitating a protein diffusion barrier at the ciliary base (summary by Lambacher et al., 2016). </p><p>Cilia are dynamic signaling organelles essential for developmental patterning, including left-right specification, skeletal formation, neural development, and organogenesis. TMEM107 is predicted to be critical for cilia formation and signaling in a subset of embryonic tissues (Christopher et al., 2012). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>Christopher et al. (2012) reported that mouse and human TMEM107 contain 140 and 139 amino acids, respectively. Both have 4 transmembrane domains. TMEM107 orthologs are present in several species, including invertebrates. RT-PCR analysis detected Tmem107 expression in adult mouse liver, kidney, lung, eye, and brain, and in embryonic mouse limb, liver, and lung. </p><p>Shylo et al. (2016) found that TMEM107 localized to the proximal region of the ciliary axoneme, but not to the distal region of the cilia. TMEM107 was enriched in a region just distal to the basal body, suggesting that it may function within the TZ. TMEM107 colocalized with other TZ proteins, consistent with a role in regulating ciliary protein composition. </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>Hartz (2015) mapped the TMEM107 gene to chromosome 17p13.1 based on an alignment of the TMEM107 sequence (GenBank BC006292) with the genomic sequence (GRCh38).</p><p>Christopher et al. (2012) mapped the mouse Tmem107 gene to chromosome 11. </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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<span class="mim-text-font">
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<p><strong><em>Meckel Syndrome 13/Joubert Syndrome 29</em></strong></p><p>
|
|
In 2 unrelated infants, born of consanguineous Saudi parents, with Meckel syndrome-13 (MKS13; 617562), Shaheen et al. (2015) identified a homozygous loss-of-function mutation in the TMEM107 gene (616183.0001). The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing, segregated with the disorder in both families; haplotype analysis indicated a founder effect. Patient cells showed a significant reduction in the number of ciliated cells compared to control cells, as well as abnormal cilia that were excessively elongated with a curly pattern. Patient fibroblasts also showed suppression of SHH (600725) signaling and reduced translocation of SMO (601500) to the cilium compared to control cells. The findings, similar to those observed in mice with loss of Tmem107 function (see ANIMAL MODEL), suggested that loss of TMEM107 impairs ciliogenesis. The families were from a cohort of 25 MKS families who underwent genetic analysis. </p><p>In a 22-year-old man with Joubert syndrome-29 (JBTS29; see 617562), Lambacher et al. (2016) identified compound heterozygous mutations in the TMEM107 gene (616183.0002 and 616183.0004). The mutations segregated with the disorder in the family. Patient fibroblasts showed reduced ciliation, and the cilia that formed were abnormally long. </p><p><strong><em>Orofaciodigital Syndrome XVI</em></strong></p><p>
|
|
In female twins, born of consanguineous parents, with orofaciodigital syndrome XVI (OFD16; 617563), Lambacher et al. (2016) identified a homozygous missense mutation in the TMEM107 gene (E45G; 616183.0003). The mutation segregated with the disorder in the family and was not found in the Exome Variant Server or ExAC databases. The E45G mutant protein retained the ability to localize to the TZ, indicating that the mutation disrupted TMEM107 functions at the TZ, rather than having a gross effect on TMEM107 localization or stability. </p><p>In a patient with OFD16, Shylo et al. (2016) identified a homozygous in-frame deletion in the TMEM107 gene (phe106del; 616183.0002). Patient cells showed fewer cilia, and cilia that were formed had a very broad range of lengths compared to controls. The findings indicated that the mutation disrupted cilia formation or maintenance. Patient cilia also showed loss of certain TZ proteins. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using a forward genetic screen, Christopher et al. (2012) created the 'schlei' mutant mouse, which exhibited preaxial polydactyly, exencephaly, and disrupted ventral neural tube patterning. The defects were consistent with defective ciliary signaling via Shh (600725). Schlei mutants had reduced numbers of cilia in limb mesenchyme and in the lumen of the neural tube. They also had bulged or curled cilia, abnormally thin cilia in the neural tube, and changes in the positions of neural progenitors, consistent with altered fields of Shh responsiveness. Schlei mutant embryos showed normal nodal cilia and normal left-right patterning, and they lacked kidney or liver cysts. Christopher et al. (2012) identified the schlei mutation as an A-to-G transition in the Tmem107 gene, resulting in the substitution of a highly conserved glutamic acid with glycine (E125G) in transmembrane domain-4. Analysis of embryos doubly mutant for schlei and various components of the Shh pathway showed that Tmem107 functioned downstream of Shh, Ptch1 (601309), and Smo (SMOH; 601500) and acted synergistically with Gli2 (165230) and Gli3 (165240) to pattern ventral and intermediate neuronal cell types. Expanded expression of the Shh targets Gli1 (GLI; 165220) and gremlin (603054) in schlei mutant limbs suggested a broadened response to Shh signaling, and the schlei mutation reduced Gli3 function to regulate digit number, but not identity. </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>4 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 MECKEL SYNDROME 13</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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TMEM107, IVS3DS, G-A, +1
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<br />
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SNP: rs1131692180,
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ClinVar: RCV000495829
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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 2 unrelated infants, born of consanguineous Saudi parents, with Meckel syndrome-13 (MKS13; 617562), Shaheen et al. (2015) identified a homozygous G-to-A transition in intron 3 of the TMEM107 gene (c.274+1G-A, NM_032354.3), resulting in a splice site alteration, a frameshift, and premature termination (Ser92CysfsTer7). The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing, segregated with the disorder in both families. It was not found in the ExAC database or in 573 control Saudi exomes. Haplotype analysis indicated a founder effect. Studies of patient cells showed an overall reduction of mRNA, likely due to nonsense-mediated decay, as well as an altered transcript, consistent with a loss of function. Patient cells showed a significant reduction in the number of ciliated cells compared to controls, as well as abnormal cilia that were excessively elongated with a curly pattern. Patient fibroblasts also showed suppression of SHH (600725) signaling and reduced translocation of SMO (601500) to the cilium compared to control cells. The findings, similar to those observed in mice with loss of Tmem107 function, suggested that loss of TMEM107 impairs ciliogenesis. </p>
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<h4>
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<span class="mim-font">
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<strong>.0002 OROFACIODIGITAL SYNDROME XVI</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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JOUBERT SYNDROME 29, INCLUDED (1 patient)
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<span class="mim-text-font">
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TMEM107, 3-BP DEL, 316TTC
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<br />
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SNP: rs752171066,
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gnomAD: rs752171066,
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ClinVar: RCV000236136, RCV000495826, RCV000495831
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</span>
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<p>In a patient with orofaciodigital syndrome XVI (OFD16; 617563), Shylo et al. (2016) identified a homozygous 3-bp deletion (c.316delTTC, NM_032354.3) in the TMEM107 gene, resulting in an in-frame deletion of a conserved residue (phe106del, F106del) in the third transmembrane domain. Patient cells showed fewer cilia, and cilia that were formed had a very broad range of lengths compared to controls. The findings indicated that the mutation disrupted cilia formation or maintenance. Patient cilia also showed loss of certain transition zone (TZ) proteins. </p><p>In a 22-year-old man with Joubert syndrome-29 (JBTS29; see 617562), Lambacher et al. (2016) identified compound heterozygous mutations in the TMEM107 gene: F106del (g.8077890_8077893delGAA) and a 1-bp deletion resulting in a frameshift and premature termination (Leu134PhefsTer8; 616183.0004). The mutations segregated with the disorder in the family and were not found in the Exome Variant Server or ExAC databases. Patient fibroblasts showed reduced ciliation, and the cilia that formed were abnormally long. The F106del mutant protein retained the ability to localize to the TZ, indicating that the mutation disrupted TMEM107 functions at the TZ, rather than having a gross effect on TMEM107 localization or stability. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0003 OROFACIODIGITAL SYNDROME XVI</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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TMEM107, GLU45GLY
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<br />
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SNP: rs1555526172,
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ClinVar: RCV000495828, RCV003558402, RCV004767304
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<span class="mim-text-font">
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<p>In female twins, born of consanguineous parents, with orofaciodigital syndrome XVI (OFD16; 617563), Lambacher et al. (2016) identified a homozygous mutation in the TMEM107 gene (g.8079298T-C), resulting in a glu45-to-gly (E45G) substitution. The mutation segregated with the disorder in the family and was not found in the Exome Variant Server or ExAC databases. The E45G mutant protein retained the ability to localize to the TZ, indicating that the mutation disrupted TMEM107 functions at the TZ, rather than having a gross effect on TMEM107 localization or stability. </p>
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</span>
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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>.0004 JOUBERT SYNDROME 29 (1 patient)</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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TMEM107, 1-BP DEL, T
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<br />
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SNP: rs1555525895,
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ClinVar: RCV000495830
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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 22-year-old man with Joubert syndrome-29 (JBTS29; see 617562), Lambacher et al. (2016) identified compound heterozygous mutations in the TMEM107 gene: a 1-bp deletion (g.8077560delT) resulting in a frameshift and premature termination (Leu134PhefsTer8) and an in-frame deletion (phe106del; 616183.0002). The mutations segregated with the disorder in the family and were not found in the Exome Variant Server or ExAC databases. Patient fibroblasts showed reduced ciliation, and the cilia that formed were abnormally long. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Christopher, K. J., Wang, B., Kong, Y., Weatherbee, S. D.
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<strong>Forward genetics uncovers transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling.</strong>
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Dev. Biol. 368: 382-392, 2012.
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[PubMed: 22698544]
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[Full Text: https://doi.org/10.1016/j.ydbio.2012.06.008]
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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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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1/12/2015.
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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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Lambacher, N. J., Bruel, A.-L., van Dam, T. J. P., Szymanska, K., Slaats, G. G., Kuhns, S., McManus, G. J., Kennedy, J. E., Gaff, K., Wu, K. M., van der Lee, R., Burglen, L., and 12 others.
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<strong>TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.</strong>
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Nature Cell Biol. 18: 122-131, 2016.
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[PubMed: 26595381]
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[Full Text: https://doi.org/10.1038/ncb3273]
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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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Shaheen, R., Almoisheer, A., Faqeih, E., Babay, Z., Monies, D., Tassan, N., Abouelhoda, M., Kurdi, W., Al Mardawi, E., Khalil, M. M. I., Seidahmed, M. Z., Alnemer, M., and 9 others.
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<strong>Identification of a novel MKS locus defined by TMEM107 mutation.</strong>
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Hum. Molec. Genet. 24: 5211-5218, 2015.
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[PubMed: 26123494]
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[Full Text: https://doi.org/10.1093/hmg/ddv242]
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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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Shylo, N. A., Christopher, K. J., Iglesias, A., Daluiski, A., Weatherbee, S. D.
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<strong>TMEM107 is a critical regulator of ciliary protein composition and is mutated in orofaciodigital syndrome.</strong>
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Hum. Mutat. 37: 155-159, 2016.
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[PubMed: 26518474]
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[Full Text: https://doi.org/10.1002/humu.22925]
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</p>
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</li>
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</ol>
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<div>
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<br />
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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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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Cassandra L. Kniffin - updated : 07/11/2017
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</span>
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</div>
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</div>
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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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Patricia A. Hartz : 1/12/2015
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carol : 07/14/2017<br>alopez : 07/13/2017<br>alopez : 07/13/2017<br>alopez : 07/13/2017<br>ckniffin : 07/11/2017<br>mgross : 01/13/2015<br>mcolton : 1/12/2015
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