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<title>
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Entry
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- *603795 - LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR; LITAF
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- OMIM
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<p>
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<span class="h4">*603795</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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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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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603795">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000189067;t=ENST00000622633" 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=9516" 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=603795" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000189067;t=ENST00000622633" 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_001136472,NM_001136473,NM_004862,NR_024320,XM_006720982,XM_006720983,XM_006720984,XM_011522754,XM_047434926,XM_047434927,XM_047434928,XM_047434929" 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_001136472" 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=603795" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=10354&isoform_id=10354_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/LITAF" 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/1684872,2415300,12652615,12862476,31873610,65787265,68084328,68084768,68085701,68086189,68563315,68563316,68563391,72533401,72533692,74354466,83304387,119605554,119605555,119605556,119605557,119605558,119605559,210147505,210147507,578828360,578828362,578828364,767987869,2217308277,2217308279,2217308281,2217308283,2462551822,2462551824,2462551826,2462551828,2462551830,2462551832" 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/Q99732" 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=9516" 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=ENSG00000189067;t=ENST00000622633" 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=LITAF" 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=LITAF" 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+9516" 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/LITAF" 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:9516" 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/9516" 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=chr16&hgg_gene=ENST00000622633.5&hgg_start=11547722&hgg_end=11640317&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16841" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:16841" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603795[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=603795[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/ENSG00000189067" 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=LITAF" 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=LITAF" 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=LITAF" 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="http://www.molgen.ua.ac.be/CMTMutations/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=LITAF&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/PA134879224" 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:16841" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0034758.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1929512" 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/LITAF#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:1929512" 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/9516/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=9516" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00009484;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040704-23" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9516" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=LITAF&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 4183003<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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603795
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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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LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR; LITAF
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</span>
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR<br />
|
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LPS-INDUCED TNF-ALPHA FACTOR<br />
|
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SMALL INTEGRAL MEMBRANE PROTEIN OF LYSOSOME/LATE ENDOSOME; SIMPLE
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=LITAF" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LITAF</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/16/195?start=-3&limit=10&highlight=195">16p13.13</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:11547722-11640317&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'})">16:11,547,722-11,640,317</a> </span>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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Charcot-Marie-Tooth disease, type 1C
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<a href="/entry/601098"> 601098 </a>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/603795" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/603795" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>The LITAF gene encodes a transcription factor, first identified as a regulator of TNF-alpha (TNF; <a href="/entry/191160">191160</a>) gene expression (<a href="#13" class="mim-tip-reference" title="Takashiba, S., Van Dyke, T. E., Shapira, L., Amar, S. <strong>Lipopolysaccharide-inducible and salicylate-sensitive nuclear factor(s) on human tumor necrosis factor alpha promoter.</strong> Infect. Immun. 63: 1529-1534, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7890420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7890420</a>] [<a href="https://doi.org/10.1128/iai.63.4.1529-1534.1995" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7890420">Takashiba et al., 1995</a>). The LITAF gene product is an early endosomal membrane protein enriched in the peripheral nerves and Schwann cells (summary by <a href="#5" class="mim-tip-reference" title="Lee, S. M., Olzmann, J. A., Chin, L. S., Li, L. <strong>Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.</strong> J. Cell Sci. 124: 3319-3331, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21896645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21896645</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21896645[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1242/jcs.087114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21896645">Lee et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7890420+21896645" 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>Cloning and Expression</strong>
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<p>Lipopolysaccharide (LPS) is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha and other inflammatory mediators. Given the deleterious effects to the host of TNF-alpha, it is likely that TNF gene expression is tightly regulated. In studies pertaining to macrophage response to LPS, <a href="#13" class="mim-tip-reference" title="Takashiba, S., Van Dyke, T. E., Shapira, L., Amar, S. <strong>Lipopolysaccharide-inducible and salicylate-sensitive nuclear factor(s) on human tumor necrosis factor alpha promoter.</strong> Infect. Immun. 63: 1529-1534, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7890420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7890420</a>] [<a href="https://doi.org/10.1128/iai.63.4.1529-1534.1995" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7890420">Takashiba et al. (1995)</a> identified a novel DNA-binding domain that contains transcriptional activity located from -550 to -487 in the human TNF promoter. Sequence analysis of this fragment revealed the absence of any known binding sites for nuclear factor kappa-B (see <a href="/entry/164011">164011</a>). <a href="#8" class="mim-tip-reference" title="Myokai, F., Takashiba, S., Lebo, R., Amar, S. <strong>A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment.</strong> Proc. Nat. Acad. Sci. 96: 4518-4523, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10200294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10200294</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10200294[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.8.4518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10200294">Myokai et al. (1999)</a> used this DNA fragment to isolate and purify a 60-kD protein binding to the fragment. They obtained its N-terminal sequence, which was used to design degenerate probes to screen a THP-1 cell cDNA library. A novel 1.8-kb cDNA clone was isolated and fully sequenced. Characterization of this cDNA clone revealed that its induction was dependent on LPS activation of the THP-1 cells; hence the name LPS-induced TNF-alpha factor (LITAF). <a href="#8" class="mim-tip-reference" title="Myokai, F., Takashiba, S., Lebo, R., Amar, S. <strong>A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment.</strong> Proc. Nat. Acad. Sci. 96: 4518-4523, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10200294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10200294</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10200294[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.8.4518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10200294">Myokai et al. (1999)</a> stated that the open reading frame of LITAF encodes a 228-amino acid protein. Inhibition of LITAF mRNA expression in THP-1 cells resulted in a reduction of TNF-alpha transcripts. Northern blot analysis detected a high level of LITAF mRNA expression predominantly in the placenta, peripheral blood leukocytes, lymph nodes, and spleen. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7890420+10200294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Street, V. A., Bennett, C. L., Goldy, J. D., Shirk, A. J., Kleopa, K. A., Tempel, B. L., Lipe, H. P., Scherer, S. S., Bird, T. D., Chance, P. F. <strong>Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.</strong> Neurology 60: 22-26, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525712</a>] [<a href="https://doi.org/10.1212/wnl.60.1.22" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12525712">Street et al. (2003)</a> stated that SIMPLE/LITAF is a widely expressed gene encoding a 161-amino acid protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12525712" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By immunohistochemistry, <a href="#1" class="mim-tip-reference" title="Bennett, C. L., Shirk, A. J., Huynh, H. M., Street, V. A., Nelis, E., Van Maldergem, L., De Jonghe, P., Jordanova, A., Guergueltcheva, V., Tournev, I., Van den Bergh, P., Seeman, P., Mazanec, R., Prochazka, T., Kremensky, I., Haberlova, J., Weiss, M. D., Timmerman, V., Bird, T. D., Chance, P. F. <strong>SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.</strong> Ann. Neurol. 55: 713-720, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122712</a>] [<a href="https://doi.org/10.1002/ana.20094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15122712">Bennett et al. (2004)</a> detected LITAF in the cytoplasm of sciatic nerve Schwann cells, as well as in adipocytes, mast cells, endothelial cells, and vascular smooth muscle cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15122712" 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>Although 2 transcripts encoding different proteins (SIMPLE and LITAF) had been reported from the same gene, <a href="#10" class="mim-tip-reference" title="Saifi, G. M., Szigeti, K., Wiszniewski, W., Shy, M. E., Krajewski, K., Hausmanowa-Petrusewicz, I., Kochanski, A., Reeser, S., Mancias, P., Butler, I., Lupski, J. R. <strong>SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.</strong> Hum. Mutat. 25: 372-383, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15776429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15776429</a>] [<a href="https://doi.org/10.1002/humu.20153" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15776429">Saifi et al. (2005)</a> could not confirm the existence of LITAF as originally identified by <a href="#8" class="mim-tip-reference" title="Myokai, F., Takashiba, S., Lebo, R., Amar, S. <strong>A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment.</strong> Proc. Nat. Acad. Sci. 96: 4518-4523, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10200294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10200294</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10200294[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.8.4518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10200294">Myokai et al. (1999)</a> and showed that the longer LITAF transcript appears to have resulted from a DNA sequencing error. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10200294+15776429" 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="Lee, S. M., Olzmann, J. A., Chin, L. S., Li, L. <strong>Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.</strong> J. Cell Sci. 124: 3319-3331, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21896645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21896645</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21896645[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1242/jcs.087114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21896645">Lee et al. (2011)</a> determined that the LITAF protein has a transmembrane domain embedded within the cysteine-rich region that anchors the protein to the membrane, suggesting that it is inserted into the membrane posttranslationally. In the mouse, Litaf was highly expressed in Schwann cells in peripheral nerves, with lower expression in brain and muscle. It showed a punctate pattern in the cytoplasm of primary Schwann cells. Endogenous Litaf localized to early endosomes, but not to late endosomes or lysosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21896645" 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 adult mouse and rat sciatic nerve, <a href="#6" class="mim-tip-reference" title="Lee, S. M., Sha, D., Mohammed, A. A., Asress, S., Glass, J. D., Chin, L.-S., Li, L. <strong>Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.</strong> Hum. Molec. Genet. 22: 1755-1770, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23359569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23359569</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23359569[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/10.1093/hmg/ddt022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23359569">Lee et al. (2013)</a> found that Litaf localized in myelinating Schwann cells, but was not a structural component of the myelin sheath or axon. Litaf was enriched in the cytoplasmic regions at Schmidt-Lanterman incisures and paranodal domains. There was colocalization with the early endosome marker Rab5 (<a href="/entry/179512">179512</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23359569" 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>Studies of <a href="#9" class="mim-tip-reference" title="Polyak, K., Xia, Y., Zweier, J. L., Kinzler, K. W., Vogelstein, B. <strong>A model for p53-induced apoptosis.</strong> Nature 389: 300-305, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9305847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9305847</a>] [<a href="https://doi.org/10.1038/38525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9305847">Polyak et al. (1997)</a> in a human colorectal cell line indicated that LITAF expression was increased 10-fold in the presence of the tumor suppressor p53, which is known to regulate pathways leading to cellular growth arrest or apoptosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9305847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Street, V. A., Bennett, C. L., Goldy, J. D., Shirk, A. J., Kleopa, K. A., Tempel, B. L., Lipe, H. P., Scherer, S. S., Bird, T. D., Chance, P. F. <strong>Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.</strong> Neurology 60: 22-26, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525712</a>] [<a href="https://doi.org/10.1212/wnl.60.1.22" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12525712">Street et al. (2003)</a> suggested that LITAF may play a role in protein degradation pathways. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12525712" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The LITAF gene contains 4 exons (<a href="#1" class="mim-tip-reference" title="Bennett, C. L., Shirk, A. J., Huynh, H. M., Street, V. A., Nelis, E., Van Maldergem, L., De Jonghe, P., Jordanova, A., Guergueltcheva, V., Tournev, I., Van den Bergh, P., Seeman, P., Mazanec, R., Prochazka, T., Kremensky, I., Haberlova, J., Weiss, M. D., Timmerman, V., Bird, T. D., Chance, P. F. <strong>SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.</strong> Ann. Neurol. 55: 713-720, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122712</a>] [<a href="https://doi.org/10.1002/ana.20094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15122712">Bennett et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15122712" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By FISH, <a href="#8" class="mim-tip-reference" title="Myokai, F., Takashiba, S., Lebo, R., Amar, S. <strong>A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment.</strong> Proc. Nat. Acad. Sci. 96: 4518-4523, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10200294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10200294</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10200294[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.8.4518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10200294">Myokai et al. (1999)</a> mapped the LITAF gene to 16p13.3-p12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10200294" 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="#11" class="mim-tip-reference" title="Street, V. A., Bennett, C. L., Goldy, J. D., Shirk, A. J., Kleopa, K. A., Tempel, B. L., Lipe, H. P., Scherer, S. S., Bird, T. D., Chance, P. F. <strong>Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.</strong> Neurology 60: 22-26, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525712</a>] [<a href="https://doi.org/10.1212/wnl.60.1.22" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12525712">Street et al. (2003)</a> investigated the LITAF gene as the cause of Charcot-Marie-Tooth type 1C (CMT1C; <a href="/entry/601098">601098</a>), which <a href="#12" class="mim-tip-reference" title="Street, V. A., Goldy, J. D., Golden, A. S., Tempel, B. L., Bird, T. D., Chance, P. F. <strong>Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies.</strong> Am. J. Hum. Genet. 70: 244-250, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11713717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11713717</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11713717[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/337943" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11713717">Street et al. (2002)</a> had mapped in 2 affected pedigrees to a 9-cM interval on 16p that included the LITAF gene. They identified 3 missense mutations in the gene encoding a 161-amino acid protein, each in a separate CMT1C pedigree. The mutations were found to cluster and occurred at conserved residues, defining a domain of the LITAF protein having a critical role in peripheral nerve function. Western blot analysis suggested that 2 of the mutations, T115N (<a href="#0002">603795.0002</a>) and W116G (<a href="#0003">603795.0003</a>), do not alter the level of LITAF protein in peripheral blood lymphocytes. The LITAF transcript was found to be expressed in rat sciatic nerve, but its level of expression was not altered during development or in response to nerve injury. <a href="#11" class="mim-tip-reference" title="Street, V. A., Bennett, C. L., Goldy, J. D., Shirk, A. J., Kleopa, K. A., Tempel, B. L., Lipe, H. P., Scherer, S. S., Bird, T. D., Chance, P. F. <strong>Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.</strong> Neurology 60: 22-26, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525712</a>] [<a href="https://doi.org/10.1212/wnl.60.1.22" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12525712">Street et al. (2003)</a> noted that this finding was in sharp contrast to that seen for other known genes that cause CMT1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12525712+11713717" 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>Although 2 transcripts encoding different proteins (SIMPLE and LITAF) had been reported from the same gene, <a href="#10" class="mim-tip-reference" title="Saifi, G. M., Szigeti, K., Wiszniewski, W., Shy, M. E., Krajewski, K., Hausmanowa-Petrusewicz, I., Kochanski, A., Reeser, S., Mancias, P., Butler, I., Lupski, J. R. <strong>SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.</strong> Hum. Mutat. 25: 372-383, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15776429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15776429</a>] [<a href="https://doi.org/10.1002/humu.20153" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15776429">Saifi et al. (2005)</a> could not confirm the existence of LITAF and showed that the LITAF transcript appears to have resulted from a DNA sequencing error. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15776429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Saifi, G. M., Szigeti, K., Wiszniewski, W., Shy, M. E., Krajewski, K., Hausmanowa-Petrusewicz, I., Kochanski, A., Reeser, S., Mancias, P., Butler, I., Lupski, J. R. <strong>SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.</strong> Hum. Mutat. 25: 372-383, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15776429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15776429</a>] [<a href="https://doi.org/10.1002/humu.20153" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15776429">Saifi et al. (2005)</a> screened the SIMPLE gene for mutations in a cohort of 192 patients with CMT or related neuropathies, each of whom tested negative for other known genetic causes of CMT. In 16 unrelated CMT families, they identified 9 different nucleotide variations in SIMPLE (see <a href="#0001">603795.0001</a>, <a href="#0004">603795.0004</a>) that were not detected in control chromosomes. <a href="#10" class="mim-tip-reference" title="Saifi, G. M., Szigeti, K., Wiszniewski, W., Shy, M. E., Krajewski, K., Hausmanowa-Petrusewicz, I., Kochanski, A., Reeser, S., Mancias, P., Butler, I., Lupski, J. R. <strong>SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.</strong> Hum. Mutat. 25: 372-383, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15776429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15776429</a>] [<a href="https://doi.org/10.1002/humu.20153" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15776429">Saifi et al. (2005)</a> concluded that SIMPLE mutations can occur de novo, associated with sporadic CMT1, and may convey both demyelinating and axonal forms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15776429" 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="Lee, S. M., Olzmann, J. A., Chin, L. S., Li, L. <strong>Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.</strong> J. Cell Sci. 124: 3319-3331, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21896645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21896645</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21896645[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1242/jcs.087114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21896645">Lee et al. (2011)</a> found that CMT1C-associated LITAF mutations clustered within or around the transmembrane domain and caused mislocalization of the protein from the early endosomal membrane to the cytosol. Mutant proteins were less stable and more prone to aggregation compared to the wildtype protein. Aggregated proteins were degraded by both the proteasome and aggresome-autophagy pathways. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21896645" 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="#14" class="mim-tip-reference" title="Tang, X., Metzger, D., Leeman, S., Amar, S. <strong>LPS-induced TNA-alpha factor (LITAF)-deficient mice express reduced LPS-induced cytokine: evidence for LITAF-dependent LPS signaling pathways.</strong> Proc. Nat. Acad. Sci. 103: 13777-13782, 2006. Note: Erratum: Proc. Nat. Acad. Sci. 104: 3015 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16954198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16954198</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16954198[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0605988103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16954198">Tang et al. (2006)</a> generated mice lacking Litaf in macrophages. They found that cytokine induction in Litaf-deficient macrophages was reduced compared with wildtype macrophages, and that mice lacking Litaf in macrophages were more resistant to LPS-induced lethality. By studying mouse macrophages lacking various Toll-like receptors (TLRs), <a href="#14" class="mim-tip-reference" title="Tang, X., Metzger, D., Leeman, S., Amar, S. <strong>LPS-induced TNA-alpha factor (LITAF)-deficient mice express reduced LPS-induced cytokine: evidence for LITAF-dependent LPS signaling pathways.</strong> Proc. Nat. Acad. Sci. 103: 13777-13782, 2006. Note: Erratum: Proc. Nat. Acad. Sci. 104: 3015 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16954198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16954198</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16954198[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0605988103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16954198">Tang et al. (2006)</a> found that expression of Litaf could be induced by LPS engagement of either Tlr2 (<a href="/entry/603028">603028</a>) or Tlr4 (<a href="/entry/603030">603030</a>), both of which required Myd88 (<a href="/entry/602170">602170</a>). In response to LPS, the Myd88-dependent Litaf pathway was independent of the Nfkb (see <a href="/entry/164011">164011</a>) pathway, and p38-alpha (MAPK14; <a href="/entry/600289">600289</a>) was required for Litaf phosphorylation and translocation to the nucleus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16954198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Lee, S. M., Sha, D., Mohammed, A. A., Asress, S., Glass, J. D., Chin, L.-S., Li, L. <strong>Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.</strong> Hum. Molec. Genet. 22: 1755-1770, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23359569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23359569</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23359569[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/10.1093/hmg/ddt022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23359569">Lee et al. (2013)</a> found that transgenic mice carrying a homozygous Litaf mutation (W116G; <a href="#0003">603795.0003</a>) developed progressive motor and sensory impairment associated with decreased motor and sensory nerve conduction velocities similar to that observed in CMT1C. Peripheral nerves of mutant mice showed dysmyelination with reduced axon caliber and focal myelin infoldings near the paranodal and internodal regions. Myelin infolding was often linked to constricted axons with signs of impaired axonal transport and to paranodal defects and abnormal organization of the node of Ranvier. The W116G mutant protein was partially mislocalized to the cytosol from the membrane. The findings suggested that the W116G Litaf mutation disrupts myelin homeostasis and causes peripheral neuropathy via a combination of toxic gain-of-function and dominant-negative mechanisms. Myelin infolding and paranodal damage appeared to represent pathogenic precursors preceding demyelination and axonal degeneration in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23359569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="/allelicVariants/603795" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603795[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C</strong>
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LITAF, GLY112SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894519 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894519;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=rs104894519" 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=rs104894519" 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=RCV000006429 OR RCV000235719 OR RCV001173620 OR RCV002321474" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006429, RCV000235719, RCV001173620, RCV002321474" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006429...</a>
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<p>In a family (K1551) segregating CMT1C (<a href="/entry/601098">601098</a>), <a href="#11" class="mim-tip-reference" title="Street, V. A., Bennett, C. L., Goldy, J. D., Shirk, A. J., Kleopa, K. A., Tempel, B. L., Lipe, H. P., Scherer, S. S., Bird, T. D., Chance, P. F. <strong>Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.</strong> Neurology 60: 22-26, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525712</a>] [<a href="https://doi.org/10.1212/wnl.60.1.22" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12525712">Street et al. (2003)</a> identified a 334G-A transition in exon 3 of the LITAF gene, resulting in a gly112-to-ser (G112S) substitution. The family had previously been reported by Chance et al. (<a href="#2" class="mim-tip-reference" title="Chance, P. F., Bird, T. D., O'Connell, P., Lipe, H., Lalouel, J.-M., Leppert, M. <strong>Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).</strong> Am. J. Hum. Genet. 47: 915-925, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2239969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2239969</a>]" pmid="2239969">1990</a>, <a href="#3" class="mim-tip-reference" title="Chance, P. F., Matsunami, N., Lensch, W., Smith, B., Bird, T. D. <strong>Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus.</strong> Neurology 42: 2037-2041, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1407588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1407588</a>] [<a href="https://doi.org/10.1212/wnl.42.10.2037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1407588">1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12525712+1407588+2239969" 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 affected members of a family with CMT1C and a patient with sporadic CMT1C, <a href="#10" class="mim-tip-reference" title="Saifi, G. M., Szigeti, K., Wiszniewski, W., Shy, M. E., Krajewski, K., Hausmanowa-Petrusewicz, I., Kochanski, A., Reeser, S., Mancias, P., Butler, I., Lupski, J. R. <strong>SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.</strong> Hum. Mutat. 25: 372-383, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15776429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15776429</a>] [<a href="https://doi.org/10.1002/humu.20153" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15776429">Saifi et al. (2005)</a> identified the G112S mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15776429" 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 2-year-old boy with severe demyelinating CMT, <a href="#7" class="mim-tip-reference" title="Meggouh, F., de Visser, M., Arts, W. F. M., De Coo, R. I. F. M., van Schaik, I. N., Baas, F. <strong>Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.</strong> Ann. Neurol. 57: 589-591, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15786462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15786462</a>] [<a href="https://doi.org/10.1002/ana.20434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15786462">Meggouh et al. (2005)</a> identified compound heterozygosity for 2 mutations: the G112S mutation in LITAF and a PMP22 duplication (<a href="/entry/601097#0001">601097.0001</a>), which is the most common cause of CMT1A (<a href="/entry/118220">118220</a>). Each parent was heterozygous for 1 of the mutations, and each had pes cavus and reduced nerve conduction velocities consistent with mild CMT. <a href="#7" class="mim-tip-reference" title="Meggouh, F., de Visser, M., Arts, W. F. M., De Coo, R. I. F. M., van Schaik, I. N., Baas, F. <strong>Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.</strong> Ann. Neurol. 57: 589-591, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15786462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15786462</a>] [<a href="https://doi.org/10.1002/ana.20434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15786462">Meggouh et al. (2005)</a> concluded that the cooccurrence of both mutations resulted in the more severe phenotype in the proband. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15786462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C</strong>
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LITAF, THR115ASN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894520 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894520;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=rs104894520" 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=rs104894520" 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=RCV000006430 OR RCV000991836" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006430, RCV000991836" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006430...</a>
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<p>In a family (K1550) segregating CMT1C (<a href="/entry/601098">601098</a>), <a href="#11" class="mim-tip-reference" title="Street, V. A., Bennett, C. L., Goldy, J. D., Shirk, A. J., Kleopa, K. A., Tempel, B. L., Lipe, H. P., Scherer, S. S., Bird, T. D., Chance, P. F. <strong>Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.</strong> Neurology 60: 22-26, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525712</a>] [<a href="https://doi.org/10.1212/wnl.60.1.22" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12525712">Street et al. (2003)</a> identified a 344C-A transversion in the LITAF gene, resulting in a thr115-to-asn (T115N) substitution. The family had previously been reported by Chance et al. (<a href="#2" class="mim-tip-reference" title="Chance, P. F., Bird, T. D., O'Connell, P., Lipe, H., Lalouel, J.-M., Leppert, M. <strong>Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).</strong> Am. J. Hum. Genet. 47: 915-925, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2239969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2239969</a>]" pmid="2239969">1990</a>, <a href="#3" class="mim-tip-reference" title="Chance, P. F., Matsunami, N., Lensch, W., Smith, B., Bird, T. D. <strong>Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus.</strong> Neurology 42: 2037-2041, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1407588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1407588</a>] [<a href="https://doi.org/10.1212/wnl.42.10.2037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1407588">1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12525712+1407588+2239969" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894521 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894521;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=rs104894521" 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=rs104894521" 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=RCV000006431" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006431" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006431</a>
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<p>In a family segregating CMT1C (<a href="/entry/601098">601098</a>), <a href="#11" class="mim-tip-reference" title="Street, V. A., Bennett, C. L., Goldy, J. D., Shirk, A. J., Kleopa, K. A., Tempel, B. L., Lipe, H. P., Scherer, S. S., Bird, T. D., Chance, P. F. <strong>Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.</strong> Neurology 60: 22-26, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525712</a>] [<a href="https://doi.org/10.1212/wnl.60.1.22" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12525712">Street et al. (2003)</a> identified a 346T-G transversion in the LITAF gene, resulting in a trp116-to-gly (W116G) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12525712" 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 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894522 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894522;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=rs104894522" 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=rs104894522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a sporadic case of CMT1C (<a href="/entry/601098">601098</a>), <a href="#10" class="mim-tip-reference" title="Saifi, G. M., Szigeti, K., Wiszniewski, W., Shy, M. E., Krajewski, K., Hausmanowa-Petrusewicz, I., Kochanski, A., Reeser, S., Mancias, P., Butler, I., Lupski, J. R. <strong>SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.</strong> Hum. Mutat. 25: 372-383, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15776429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15776429</a>] [<a href="https://doi.org/10.1002/humu.20153" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15776429">Saifi et al. (2005)</a> identified a de novo heterozygous 364C-G transversion in exon 3 of the SIMPLE gene, resulting in a leu122-to-val (L122V) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15776429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C</strong>
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LITAF, VAL144MET
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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> rs121908615 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908615;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/rs121908615?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=rs121908615" 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=rs121908615" 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=RCV000006433 OR RCV001173626" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006433, RCV001173626" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006433...</a>
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<p>In a German mother and son with CMT1C (<a href="/entry/601098">601098</a>), <a href="#4" class="mim-tip-reference" title="Gerding, W. M., Koetting, J., Epplen, J. T., Neusch, C. <strong>Hereditary and sensory neuropathy caused by a novel mutation in LITAF.</strong> Neuromusc. Disord. 19: 701-703, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19541485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19541485</a>] [<a href="https://doi.org/10.1016/j.nmd.2009.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19541485">Gerding et al. (2009)</a> identified a heterozygous 430G-A transition in exon 4 of the LITAF gene, resulting in a val144-to-met (V144M) substitution. The mutation was not observed in 400 control chromosomes. Both had typical demyelinating sensorimotor neuropathy, but the son showed initial symptom onset at age 10, whereas the mother had onset of clinical symptoms in her late fifties. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19541485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1212/wnl.42.10.2037" target="_blank">Full Text</a>]
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<a id="Gerding2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gerding, W. M., Koetting, J., Epplen, J. T., Neusch, C.
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<strong>Hereditary and sensory neuropathy caused by a novel mutation in LITAF.</strong>
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Neuromusc. Disord. 19: 701-703, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19541485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19541485</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19541485" 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.nmd.2009.05.006" target="_blank">Full Text</a>]
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<a id="Lee2011" class="mim-anchor"></a>
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Lee, S. M., Olzmann, J. A., Chin, L. S., Li, L.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21896645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21896645</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21896645[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=21896645" 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/10.1242/jcs.087114" target="_blank">Full Text</a>]
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Street, V. A., Bennett, C. L., Goldy, J. D., Shirk, A. J., Kleopa, K. A., Tempel, B. L., Lipe, H. P., Scherer, S. S., Bird, T. D., Chance, P. F.
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[<a href="https://doi.org/10.1212/wnl.60.1.22" target="_blank">Full Text</a>]
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Street, V. A., Goldy, J. D., Golden, A. S., Tempel, B. L., Bird, T. D., Chance, P. F.
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<strong>Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies.</strong>
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[<a href="https://doi.org/10.1086/337943" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7890420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7890420</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7890420" 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/10.1128/iai.63.4.1529-1534.1995" target="_blank">Full Text</a>]
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</p>
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<a id="14" class="mim-anchor"></a>
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<a id="Tang2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tang, X., Metzger, D., Leeman, S., Amar, S.
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<strong>LPS-induced TNA-alpha factor (LITAF)-deficient mice express reduced LPS-induced cytokine: evidence for LITAF-dependent LPS signaling pathways.</strong>
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Proc. Nat. Acad. Sci. 103: 13777-13782, 2006. Note: Erratum: Proc. Nat. Acad. Sci. 104: 3015 only, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16954198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16954198</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16954198[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=16954198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0605988103" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 7/10/2013
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/16/2009<br>Paul J. Converse - updated : 10/17/2006<br>Cassandra L. Kniffin - updated : 7/12/2005<br>Victor A. McKusick - updated : 4/28/2005<br>Cassandra L. Kniffin - updated : 8/4/2004<br>Victor A. McKusick - updated : 3/7/2003
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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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Victor A. McKusick : 5/10/1999
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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 : 06/08/2020
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<span class="mim-text-font">
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carol : 07/11/2013<br>ckniffin : 7/10/2013<br>terry : 8/6/2012<br>wwang : 11/12/2009<br>ckniffin : 10/16/2009<br>ckniffin : 10/16/2009<br>mgross : 10/19/2006<br>terry : 10/17/2006<br>carol : 8/3/2005<br>wwang : 7/26/2005<br>ckniffin : 7/12/2005<br>tkritzer : 5/12/2005<br>terry : 4/28/2005<br>tkritzer : 8/9/2004<br>ckniffin : 8/4/2004<br>ckniffin : 4/28/2003<br>tkritzer : 3/24/2003<br>carol : 3/21/2003<br>carol : 3/21/2003<br>terry : 3/7/2003<br>mgross : 5/11/1999
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<span class="mim-font">
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<strong>*</strong> 603795
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<h3>
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LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR; LITAF
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR<br />
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LPS-INDUCED TNF-ALPHA FACTOR<br />
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SMALL INTEGRAL MEMBRANE PROTEIN OF LYSOSOME/LATE ENDOSOME; SIMPLE
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: LITAF</em></strong>
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<strong>SNOMEDCT:</strong> 4183003;
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<strong>
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<em>
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Cytogenetic location: 16p13.13
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:11,547,722-11,640,317 </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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<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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</th>
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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16p13.13
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<span class="mim-font">
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Charcot-Marie-Tooth disease, type 1C
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<td>
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<span class="mim-font">
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601098
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>The LITAF gene encodes a transcription factor, first identified as a regulator of TNF-alpha (TNF; 191160) gene expression (Takashiba et al., 1995). The LITAF gene product is an early endosomal membrane protein enriched in the peripheral nerves and Schwann cells (summary by Lee et al., 2011). </p>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<p>Lipopolysaccharide (LPS) is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha and other inflammatory mediators. Given the deleterious effects to the host of TNF-alpha, it is likely that TNF gene expression is tightly regulated. In studies pertaining to macrophage response to LPS, Takashiba et al. (1995) identified a novel DNA-binding domain that contains transcriptional activity located from -550 to -487 in the human TNF promoter. Sequence analysis of this fragment revealed the absence of any known binding sites for nuclear factor kappa-B (see 164011). Myokai et al. (1999) used this DNA fragment to isolate and purify a 60-kD protein binding to the fragment. They obtained its N-terminal sequence, which was used to design degenerate probes to screen a THP-1 cell cDNA library. A novel 1.8-kb cDNA clone was isolated and fully sequenced. Characterization of this cDNA clone revealed that its induction was dependent on LPS activation of the THP-1 cells; hence the name LPS-induced TNF-alpha factor (LITAF). Myokai et al. (1999) stated that the open reading frame of LITAF encodes a 228-amino acid protein. Inhibition of LITAF mRNA expression in THP-1 cells resulted in a reduction of TNF-alpha transcripts. Northern blot analysis detected a high level of LITAF mRNA expression predominantly in the placenta, peripheral blood leukocytes, lymph nodes, and spleen. </p><p>Street et al. (2003) stated that SIMPLE/LITAF is a widely expressed gene encoding a 161-amino acid protein. </p><p>By immunohistochemistry, Bennett et al. (2004) detected LITAF in the cytoplasm of sciatic nerve Schwann cells, as well as in adipocytes, mast cells, endothelial cells, and vascular smooth muscle cells. </p><p>Although 2 transcripts encoding different proteins (SIMPLE and LITAF) had been reported from the same gene, Saifi et al. (2005) could not confirm the existence of LITAF as originally identified by Myokai et al. (1999) and showed that the longer LITAF transcript appears to have resulted from a DNA sequencing error. </p><p>Lee et al. (2011) determined that the LITAF protein has a transmembrane domain embedded within the cysteine-rich region that anchors the protein to the membrane, suggesting that it is inserted into the membrane posttranslationally. In the mouse, Litaf was highly expressed in Schwann cells in peripheral nerves, with lower expression in brain and muscle. It showed a punctate pattern in the cytoplasm of primary Schwann cells. Endogenous Litaf localized to early endosomes, but not to late endosomes or lysosomes. </p><p>In adult mouse and rat sciatic nerve, Lee et al. (2013) found that Litaf localized in myelinating Schwann cells, but was not a structural component of the myelin sheath or axon. Litaf was enriched in the cytoplasmic regions at Schmidt-Lanterman incisures and paranodal domains. There was colocalization with the early endosome marker Rab5 (179512). </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Studies of Polyak et al. (1997) in a human colorectal cell line indicated that LITAF expression was increased 10-fold in the presence of the tumor suppressor p53, which is known to regulate pathways leading to cellular growth arrest or apoptosis. </p><p>Street et al. (2003) suggested that LITAF may play a role in protein degradation pathways. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The LITAF gene contains 4 exons (Bennett et al., 2004). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By FISH, Myokai et al. (1999) mapped the LITAF gene to 16p13.3-p12. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Street et al. (2003) investigated the LITAF gene as the cause of Charcot-Marie-Tooth type 1C (CMT1C; 601098), which Street et al. (2002) had mapped in 2 affected pedigrees to a 9-cM interval on 16p that included the LITAF gene. They identified 3 missense mutations in the gene encoding a 161-amino acid protein, each in a separate CMT1C pedigree. The mutations were found to cluster and occurred at conserved residues, defining a domain of the LITAF protein having a critical role in peripheral nerve function. Western blot analysis suggested that 2 of the mutations, T115N (603795.0002) and W116G (603795.0003), do not alter the level of LITAF protein in peripheral blood lymphocytes. The LITAF transcript was found to be expressed in rat sciatic nerve, but its level of expression was not altered during development or in response to nerve injury. Street et al. (2003) noted that this finding was in sharp contrast to that seen for other known genes that cause CMT1. </p><p>Although 2 transcripts encoding different proteins (SIMPLE and LITAF) had been reported from the same gene, Saifi et al. (2005) could not confirm the existence of LITAF and showed that the LITAF transcript appears to have resulted from a DNA sequencing error. </p><p>Saifi et al. (2005) screened the SIMPLE gene for mutations in a cohort of 192 patients with CMT or related neuropathies, each of whom tested negative for other known genetic causes of CMT. In 16 unrelated CMT families, they identified 9 different nucleotide variations in SIMPLE (see 603795.0001, 603795.0004) that were not detected in control chromosomes. Saifi et al. (2005) concluded that SIMPLE mutations can occur de novo, associated with sporadic CMT1, and may convey both demyelinating and axonal forms. </p><p>Lee et al. (2011) found that CMT1C-associated LITAF mutations clustered within or around the transmembrane domain and caused mislocalization of the protein from the early endosomal membrane to the cytosol. Mutant proteins were less stable and more prone to aggregation compared to the wildtype protein. Aggregated proteins were degraded by both the proteasome and aggresome-autophagy pathways. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Tang et al. (2006) generated mice lacking Litaf in macrophages. They found that cytokine induction in Litaf-deficient macrophages was reduced compared with wildtype macrophages, and that mice lacking Litaf in macrophages were more resistant to LPS-induced lethality. By studying mouse macrophages lacking various Toll-like receptors (TLRs), Tang et al. (2006) found that expression of Litaf could be induced by LPS engagement of either Tlr2 (603028) or Tlr4 (603030), both of which required Myd88 (602170). In response to LPS, the Myd88-dependent Litaf pathway was independent of the Nfkb (see 164011) pathway, and p38-alpha (MAPK14; 600289) was required for Litaf phosphorylation and translocation to the nucleus. </p><p>Lee et al. (2013) found that transgenic mice carrying a homozygous Litaf mutation (W116G; 603795.0003) developed progressive motor and sensory impairment associated with decreased motor and sensory nerve conduction velocities similar to that observed in CMT1C. Peripheral nerves of mutant mice showed dysmyelination with reduced axon caliber and focal myelin infoldings near the paranodal and internodal regions. Myelin infolding was often linked to constricted axons with signs of impaired axonal transport and to paranodal defects and abnormal organization of the node of Ranvier. The W116G mutant protein was partially mislocalized to the cytosol from the membrane. The findings suggested that the W116G Litaf mutation disrupts myelin homeostasis and causes peripheral neuropathy via a combination of toxic gain-of-function and dominant-negative mechanisms. Myelin infolding and paranodal damage appeared to represent pathogenic precursors preceding demyelination and axonal degeneration in this disorder. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 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 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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LITAF, GLY112SER
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<br />
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SNP: rs104894519,
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ClinVar: RCV000006429, RCV000235719, RCV001173620, RCV002321474
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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 family (K1551) segregating CMT1C (601098), Street et al. (2003) identified a 334G-A transition in exon 3 of the LITAF gene, resulting in a gly112-to-ser (G112S) substitution. The family had previously been reported by Chance et al. (1990, 1992). </p><p>In affected members of a family with CMT1C and a patient with sporadic CMT1C, Saifi et al. (2005) identified the G112S mutation. </p><p>In a 2-year-old boy with severe demyelinating CMT, Meggouh et al. (2005) identified compound heterozygosity for 2 mutations: the G112S mutation in LITAF and a PMP22 duplication (601097.0001), which is the most common cause of CMT1A (118220). Each parent was heterozygous for 1 of the mutations, and each had pes cavus and reduced nerve conduction velocities consistent with mild CMT. Meggouh et al. (2005) concluded that the cooccurrence of both mutations resulted in the more severe phenotype in the proband. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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LITAF, THR115ASN
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<br />
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SNP: rs104894520,
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ClinVar: RCV000006430, RCV000991836
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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 family (K1550) segregating CMT1C (601098), Street et al. (2003) identified a 344C-A transversion in the LITAF gene, resulting in a thr115-to-asn (T115N) substitution. The family had previously been reported by Chance et al. (1990, 1992). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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LITAF, TRP116GLY
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<br />
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SNP: rs104894521,
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ClinVar: RCV000006431
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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 family segregating CMT1C (601098), Street et al. (2003) identified a 346T-G transversion in the LITAF gene, resulting in a trp116-to-gly (W116G) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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LITAF, LEU122VAL
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<br />
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SNP: rs104894522,
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ClinVar: RCV000006432
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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 sporadic case of CMT1C (601098), Saifi et al. (2005) identified a de novo heterozygous 364C-G transversion in exon 3 of the SIMPLE gene, resulting in a leu122-to-val (L122V) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0005 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C</strong>
|
|
</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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LITAF, VAL144MET
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<br />
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SNP: rs121908615,
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gnomAD: rs121908615,
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ClinVar: RCV000006433, RCV001173626
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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 German mother and son with CMT1C (601098), Gerding et al. (2009) identified a heterozygous 430G-A transition in exon 4 of the LITAF gene, resulting in a val144-to-met (V144M) substitution. The mutation was not observed in 400 control chromosomes. Both had typical demyelinating sensorimotor neuropathy, but the son showed initial symptom onset at age 10, whereas the mother had onset of clinical symptoms in her late fifties. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
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<div>
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
|
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<p class="mim-text-font">
|
|
Bennett, C. L., Shirk, A. J., Huynh, H. M., Street, V. A., Nelis, E., Van Maldergem, L., De Jonghe, P., Jordanova, A., Guergueltcheva, V., Tournev, I., Van den Bergh, P., Seeman, P., Mazanec, R., Prochazka, T., Kremensky, I., Haberlova, J., Weiss, M. D., Timmerman, V., Bird, T. D., Chance, P. F.
|
|
<strong>SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.</strong>
|
|
Ann. Neurol. 55: 713-720, 2004.
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[PubMed: 15122712]
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[Full Text: https://doi.org/10.1002/ana.20094]
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<li>
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<p class="mim-text-font">
|
|
Chance, P. F., Bird, T. D., O'Connell, P., Lipe, H., Lalouel, J.-M., Leppert, M.
|
|
<strong>Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).</strong>
|
|
Am. J. Hum. Genet. 47: 915-925, 1990.
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[PubMed: 2239969]
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<li>
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<p class="mim-text-font">
|
|
Chance, P. F., Matsunami, N., Lensch, W., Smith, B., Bird, T. D.
|
|
<strong>Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus.</strong>
|
|
Neurology 42: 2037-2041, 1992.
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[PubMed: 1407588]
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[Full Text: https://doi.org/10.1212/wnl.42.10.2037]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Gerding, W. M., Koetting, J., Epplen, J. T., Neusch, C.
|
|
<strong>Hereditary and sensory neuropathy caused by a novel mutation in LITAF.</strong>
|
|
Neuromusc. Disord. 19: 701-703, 2009.
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[PubMed: 19541485]
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[Full Text: https://doi.org/10.1016/j.nmd.2009.05.006]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lee, S. M., Olzmann, J. A., Chin, L. S., Li, L.
|
|
<strong>Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.</strong>
|
|
J. Cell Sci. 124: 3319-3331, 2011.
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[PubMed: 21896645]
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[Full Text: https://doi.org/10.1242/jcs.087114]
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<li>
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<p class="mim-text-font">
|
|
Lee, S. M., Sha, D., Mohammed, A. A., Asress, S., Glass, J. D., Chin, L.-S., Li, L.
|
|
<strong>Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.</strong>
|
|
Hum. Molec. Genet. 22: 1755-1770, 2013.
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[PubMed: 23359569]
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[Full Text: https://doi.org/10.1093/hmg/ddt022]
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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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Meggouh, F., de Visser, M., Arts, W. F. M., De Coo, R. I. F. M., van Schaik, I. N., Baas, F.
|
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<strong>Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.</strong>
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Ann. Neurol. 57: 589-591, 2005.
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[PubMed: 15786462]
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[Full Text: https://doi.org/10.1002/ana.20434]
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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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Myokai, F., Takashiba, S., Lebo, R., Amar, S.
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<strong>A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment.</strong>
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Proc. Nat. Acad. Sci. 96: 4518-4523, 1999.
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[PubMed: 10200294]
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[Full Text: https://doi.org/10.1073/pnas.96.8.4518]
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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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Polyak, K., Xia, Y., Zweier, J. L., Kinzler, K. W., Vogelstein, B.
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<strong>A model for p53-induced apoptosis.</strong>
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Nature 389: 300-305, 1997.
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[PubMed: 9305847]
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[Full Text: https://doi.org/10.1038/38525]
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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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Saifi, G. M., Szigeti, K., Wiszniewski, W., Shy, M. E., Krajewski, K., Hausmanowa-Petrusewicz, I., Kochanski, A., Reeser, S., Mancias, P., Butler, I., Lupski, J. R.
|
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<strong>SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.</strong>
|
|
Hum. Mutat. 25: 372-383, 2005.
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[PubMed: 15776429]
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[Full Text: https://doi.org/10.1002/humu.20153]
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</p>
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<li>
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<p class="mim-text-font">
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Street, V. A., Bennett, C. L., Goldy, J. D., Shirk, A. J., Kleopa, K. A., Tempel, B. L., Lipe, H. P., Scherer, S. S., Bird, T. D., Chance, P. F.
|
|
<strong>Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.</strong>
|
|
Neurology 60: 22-26, 2003.
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|
[PubMed: 12525712]
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[Full Text: https://doi.org/10.1212/wnl.60.1.22]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Street, V. A., Goldy, J. D., Golden, A. S., Tempel, B. L., Bird, T. D., Chance, P. F.
|
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<strong>Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies.</strong>
|
|
Am. J. Hum. Genet. 70: 244-250, 2002.
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|
[PubMed: 11713717]
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[Full Text: https://doi.org/10.1086/337943]
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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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Takashiba, S., Van Dyke, T. E., Shapira, L., Amar, S.
|
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<strong>Lipopolysaccharide-inducible and salicylate-sensitive nuclear factor(s) on human tumor necrosis factor alpha promoter.</strong>
|
|
Infect. Immun. 63: 1529-1534, 1995.
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|
|
[PubMed: 7890420]
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[Full Text: https://doi.org/10.1128/iai.63.4.1529-1534.1995]
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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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Tang, X., Metzger, D., Leeman, S., Amar, S.
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<strong>LPS-induced TNA-alpha factor (LITAF)-deficient mice express reduced LPS-induced cytokine: evidence for LITAF-dependent LPS signaling pathways.</strong>
|
|
Proc. Nat. Acad. Sci. 103: 13777-13782, 2006. Note: Erratum: Proc. Nat. Acad. Sci. 104: 3015 only, 2007.
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[PubMed: 16954198]
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[Full Text: https://doi.org/10.1073/pnas.0605988103]
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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>
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</div>
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</div>
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<div>
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<div class="row">
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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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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 7/10/2013<br>Cassandra L. Kniffin - updated : 10/16/2009<br>Paul J. Converse - updated : 10/17/2006<br>Cassandra L. Kniffin - updated : 7/12/2005<br>Victor A. McKusick - updated : 4/28/2005<br>Cassandra L. Kniffin - updated : 8/4/2004<br>Victor A. McKusick - updated : 3/7/2003
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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 class="row">
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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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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 5/10/1999
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</span>
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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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Edit History:
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</span>
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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 : 06/08/2020<br>carol : 07/11/2013<br>ckniffin : 7/10/2013<br>terry : 8/6/2012<br>wwang : 11/12/2009<br>ckniffin : 10/16/2009<br>ckniffin : 10/16/2009<br>mgross : 10/19/2006<br>terry : 10/17/2006<br>carol : 8/3/2005<br>wwang : 7/26/2005<br>ckniffin : 7/12/2005<br>tkritzer : 5/12/2005<br>terry : 4/28/2005<br>tkritzer : 8/9/2004<br>ckniffin : 8/4/2004<br>ckniffin : 4/28/2003<br>tkritzer : 3/24/2003<br>carol : 3/21/2003<br>carol : 3/21/2003<br>terry : 3/7/2003<br>mgross : 5/11/1999
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