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- *600415 - TOCOPHEROL TRANSFER PROTEIN, ALPHA; TTPA
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- OMIM
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<p>
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<span class="h4">*600415</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600415">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<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 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=ENSG00000137561;t=ENST00000260116" 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=7274" 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=600415" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000137561;t=ENST00000260116" 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_000370,NM_001413414,NM_001413415,NM_001413416,NM_001413417,NM_001413418,NR_182149,NR_182150,NR_182151" 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_000370" 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=600415" 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=02685&isoform_id=02685_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/TTPA" 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/699601,726182,1351322,3789763,4507723,37046648,119607269,2324175061,2324175072,2324175146,2324175159,2324175226" 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/P49638" 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=7274" 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=ENSG00000137561;t=ENST00000260116" 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=TTPA" 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=TTPA" 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+7274" 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/TTPA" 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:7274" 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/7274" 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=chr8&hgg_gene=ENST00000260116.5&hgg_start=63058409&hgg_end=63086053&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://medlineplus.gov/genetics/gene/ttpa" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600415[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 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=600415[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/ENSG00000137561" 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=TTPA" 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=TTPA" 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=TTPA" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=TTPA&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/PA37068" 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:12404" 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/FBgn0023525.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:1354168" 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/TTPA#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:1354168" 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/7274/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002922/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=7274" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-4631" 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="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:600415" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=TTPA&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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600415
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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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TOCOPHEROL TRANSFER PROTEIN, ALPHA; TTPA
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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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TTP1<br />
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ALPHA-TOCOPHEROL TRANSFER PROTEIN; ATTP<br />
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ALPHA-TTP
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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=TTPA" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TTPA</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/8/300?start=-3&limit=10&highlight=300">8q12.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr8:63058409-63086053&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'})">8:63,058,409-63,086,053</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
|
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/8/300?start=-3&limit=10&highlight=300">
|
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8q12.3
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Ataxia with isolated vitamin E deficiency
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/277460"> 277460 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/600415" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600415" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<p>Using rat alpha-Ttp to screen a liver cDNA library, followed by PCR, <a href="#1" class="mim-tip-reference" title="Arita, M., Sato, Y., Miyata, A., Tanabe, T., Takahashi, E., Kayden, H. J., Arai, H., Inoue, K. <strong>Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization.</strong> Biochem. J. 306: 437-443, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887897</a>] [<a href="https://doi.org/10.1042/bj3060437" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7887897">Arita et al. (1995)</a> cloned full-length human alpha-TTP. The deduced 278-amino acid protein has a calculated molecular mass of 31.7 kD and shares 94% identity with rat alpha-Ttp. Northern blot analysis of several human tissues detected a 4.5-kb alpha-TTP transcript in liver only. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Arita, M., Sato, Y., Miyata, A., Tanabe, T., Takahashi, E., Kayden, H. J., Arai, H., Inoue, K. <strong>Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization.</strong> Biochem. J. 306: 437-443, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887897</a>] [<a href="https://doi.org/10.1042/bj3060437" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7887897">Arita et al. (1995)</a> found that recombinant human alpha-TTP transferred alpha-tocopherol from liposomes to the heavy membrane fraction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887897" 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="Kono, N., Ohto, U., Hiramatsu, T., Urabe, M., Uchida, Y., Satow, Y., Arai, H. <strong>Impaired alpha-TTP-PIPs interaction underlies familial vitamin E deficiency.</strong> Science 340: 1106-1110, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23599266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23599266</a>] [<a href="https://doi.org/10.1126/science.1233508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23599266">Kono et al. (2013)</a> found that wildtype TTPA bound phosphatidylinositol phosphates (PIPs), whereas the arginine mutants that cause ataxia with vitamin E deficiency in humans did not. In addition, PIPs in the target membrane promoted the intermembrane transfer of alpha-tocopherol by TTPA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23599266" 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="#6" class="mim-tip-reference" title="Kono, N., Ohto, U., Hiramatsu, T., Urabe, M., Uchida, Y., Satow, Y., Arai, H. <strong>Impaired alpha-TTP-PIPs interaction underlies familial vitamin E deficiency.</strong> Science 340: 1106-1110, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23599266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23599266</a>] [<a href="https://doi.org/10.1126/science.1233508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23599266">Kono et al. (2013)</a> determined the crystal structure of the TTPA-PIP complex, which revealed that disease-related arginine residues interacted with the phosphate groups of the PIPs and that the PIPs' binding caused the lid of the alpha-tocopherol-binding pocket to open. <a href="#6" class="mim-tip-reference" title="Kono, N., Ohto, U., Hiramatsu, T., Urabe, M., Uchida, Y., Satow, Y., Arai, H. <strong>Impaired alpha-TTP-PIPs interaction underlies familial vitamin E deficiency.</strong> Science 340: 1106-1110, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23599266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23599266</a>] [<a href="https://doi.org/10.1126/science.1233508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23599266">Kono et al. (2013)</a> concluded that PIPs have a role in promoting the release of a ligand from a lipid transfer protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23599266" 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 Southern blot hybridization of human/hamster somatic cell hybrid lines and fluorescence in situ hybridization, <a href="#1" class="mim-tip-reference" title="Arita, M., Sato, Y., Miyata, A., Tanabe, T., Takahashi, E., Kayden, H. J., Arai, H., Inoue, K. <strong>Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization.</strong> Biochem. J. 306: 437-443, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887897</a>] [<a href="https://doi.org/10.1042/bj3060437" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7887897">Arita et al. (1995)</a> identified a single TTP1 gene in the chromosome 8q13.1-q13.3 region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887897" 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 role of TTP1 in vitamin E homeostasis, coupled with the mapping of ataxia with isolated vitamin E deficiency (AVED; <a href="/entry/277460">277460</a>) also to 8q, prompted <a href="#7" class="mim-tip-reference" title="Ouahchi, K., Arita, M., Kayden, H., Hentati, F., Ben Hamida, M., Sokol, R., Arai, H., Inoue, K., Mandel, J.-L., Koenig, M. <strong>Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.</strong> Nature Genet. 9: 141-145, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719340</a>] [<a href="https://doi.org/10.1038/ng0295-141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7719340">Ouahchi et al. (1995)</a> to investigate a possible role of the TTP1 gene in that disorder. A mutation search of the TTP1 gene was made in 17 unrelated AVED families. In 15 families, the patients were homozygous for the linked haplotype, in agreement with known consanguinity in 12 cases and suggesting ancient consanguinity in the 3 remaining ones. In 68% of the mutant alleles in the 17 families analyzed, deletion of a single A at position 744 was found to have resulted in the replacement of the last 30 amino acids of the protein product by an aberrant 14 amino acid peptide. The mutation was referred to as Mediterranean because it appeared to have spread in North Africa and Italy. Two other independent frameshift mutations were found in patients of northern European ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7719340" 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="#8" class="mim-tip-reference" title="Robinson, W. G., Kuwabara, T., Bieri, J. G. <strong>The role of vitamin E and unsaturated fatty acids in the visual process.</strong> Retina 2: 263-281, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6101134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6101134</a>]" pmid="6101134">Robinson et al. (1982)</a> found in experiments in animals that diets deficient in vitamin E cause retinitis pigmentosa. For this reason, <a href="#12" class="mim-tip-reference" title="Yokota, T., Shiojiri, T., Gotoda, T., Arai, H. <strong>Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein. (Letter)</strong> New Eng. J. Med. 335: 1770-1771, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8965888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8965888</a>] [<a href="https://doi.org/10.1056/NEJM199612053352315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8965888">Yokota et al. (1996)</a> studied the TTPA gene in 2 unrelated patients, a 60-year-old woman (patient 1) and a 47-year-old man (patient 2), who had autosomal recessive retinitis pigmentosa and low serum vitamin E concentrations. In both patients they found a his101-to-gln mutation (<a href="#0002">600415.0002</a>). Initial visual symptoms were night blindness in patient 1, which began at the age of 43 years, and loss of peripheral vision in patient 2, which began at the age of 45 years. This patient also had mild ataxia, decreased vibration sense, and hyporeflexia. In each, ophthalmoscopy showed the typical changes for retinitis pigmentosa, Goldmann perimetry revealed a ring scotoma, and electroretinography showed no light-evoked electrical responses. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6101134+8965888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Cavalier, L., Ouahchi, K., Kayden, H. J., Di Donato, S., Reutenauer, L., Mandel, J.-L., Koenig, M. <strong>Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.</strong> Am. J. Hum. Genet. 62: 301-310, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463307</a>] [<a href="https://doi.org/10.1086/301699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9463307">Cavalier et al. (1998)</a> reported identification of 13 mutations in the TTPA gene in 27 families with AVED. Four mutations were found in 2 or more independent families: 744delA (<a href="#0001">600415.0001</a>), which is the major mutation in North Africa, and 513insTT, 486delT, and arg134 to ter, in families of European origin. Compilation of the clinical records of 43 patients with documented mutation in the TTPA gene revealed differences from Friedreich ataxia (<a href="/entry/229300">229300</a>): cardiomyopathy was found in 19% of cases, whereas head titubation was found in 28% of cases and dystonia in an additional 13%. This study represented the largest group of patients and mutations reported for this often misdiagnosed disease and pointed to the need for an early differential diagnosis from Friedreich ataxia in order to initiate therapeutic and prophylactic vitamin E supplementation before irreversible damage develops. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9463307" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Cellini, E., Piacentini, S., Nacmias, B., Forleo, P., Tedde, A., Bagnoli, S., Ciantelli, M., Sorbi, S. <strong>A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia.</strong> Arch. Neurol. 59: 1952-1953, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12470185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12470185</a>] [<a href="https://doi.org/10.1001/archneur.59.12.1952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12470185">Cellini et al. (2002)</a> reported a patient with progressive ataxia from the age of 7 years, becoming wheelchair bound at age 17, as well as cerebellar atrophy and vitamin E deficiency. She had expanded CTA/CAG repeats suggestive of SCA8 (<a href="/entry/608768">608768</a>) and also had compound heterozygosity for mutations in the TTPA gene (<a href="#0004">600415.0004</a> and <a href="#0006">600415.0006</a>), yielding a nonfunctional protein. Supplementation with vitamin E did not improve symptoms. <a href="#3" class="mim-tip-reference" title="Cellini, E., Piacentini, S., Nacmias, B., Forleo, P., Tedde, A., Bagnoli, S., Ciantelli, M., Sorbi, S. <strong>A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia.</strong> Arch. Neurol. 59: 1952-1953, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12470185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12470185</a>] [<a href="https://doi.org/10.1001/archneur.59.12.1952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12470185">Cellini et al. (2002)</a> suggested that the SCA mutations acted in the neurodegenerative process, worsening the neurologic signs caused by the vitamin E deficit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12470185" 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>Although lipid peroxidation in the subendothelial space had been hypothesized to play a central role in atherogenesis, the role of vitamin E in preventing lipid peroxidation and lesion development remained uncertain. <a href="#10" class="mim-tip-reference" title="Terasawa, Y., Ladha, Z., Leonard, S. W., Morrow, J. D., Newland, D., Sanan, D., Packer, L., Traber, M. G., Farese, R. V., Jr. <strong>Increased atherosclerosis in hyperlipidemic mice deficient in alpha-tocopherol transfer protein and vitamin E.</strong> Proc. Nat. Acad. Sci. 97: 13830-13834, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11095717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11095717</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11095717[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.240462697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11095717">Terasawa et al. (2000)</a> showed that in atherosclerosis-susceptible apolipoprotein E knockout mice, vitamin E deficiency caused by disruption of the alpha-tocopherol transfer protein gene (Ttpa) increased the severity of atherosclerotic lesions in the proximal aorta. The increase was associated with increased levels of isoprostanes, a marker of lipid peroxidation, in aortic tissue. Ttpa -/- mice present a useful genetic model of vitamin E deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11095717" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using differential analysis, <a href="#11" class="mim-tip-reference" title="Vasu, V. T., Hobson, B., Gohil, K., Cross, C. E. <strong>Genome-wide screening of alpha-tocopherol sensitive genes in heart tissue from alpha-tocopherol transfer protein null mice (ATTP-/-).</strong> FEBS Lett. 581: 1572-1578, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17382327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17382327</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17382327[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.febslet.2007.03.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17382327">Vasu et al. (2007)</a> compared gene expression in heart tissue of Attp -/- mice with that of wildtype mice. Of the 65 genes affected by Attp deletion, a cluster of genes related to immune function were downregulated, whereas genes related to lipid metabolism and inflammatory response were upregulated. Classic antioxidant genes showed no significant change in expression in Attp -/- mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17382327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=600415[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397515377 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515377;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/rs397515377?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=rs397515377" 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=rs397515377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 68% of the mutant alleles in 17 families with AVED (<a href="/entry/277460">277460</a>), <a href="#7" class="mim-tip-reference" title="Ouahchi, K., Arita, M., Kayden, H., Hentati, F., Ben Hamida, M., Sokol, R., Arai, H., Inoue, K., Mandel, J.-L., Koenig, M. <strong>Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.</strong> Nature Genet. 9: 141-145, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719340</a>] [<a href="https://doi.org/10.1038/ng0295-141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7719340">Ouahchi et al. (1995)</a> found a deletion of 1 bp (A) at position 744. The mutation, referred to as Mediterranean, appeared to have spread in North Africa and Italy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7719340" 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 ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121917849 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917849;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/rs121917849?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=rs121917849" 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=rs121917849" 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=RCV000009708 OR RCV000055795" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009708, RCV000055795" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009708...</a>
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<p><a href="#4" class="mim-tip-reference" title="Gotoda, T., Arita, M., Arai, H., Inoue, K., Yokota, T., Fukuo, Y., Yazaki, Y., Yamada, N. <strong>Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.</strong> New Eng. J. Med. 333: 1313-1318, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7566022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7566022</a>] [<a href="https://doi.org/10.1056/NEJM199511163332003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7566022">Gotoda et al. (1995)</a> found a missense mutation in the TTP1 gene in a 70-year-old man who had been well until the age of 52 years when he became aware of unsteadiness in the dark. At the age of 57, he began to have difficulty speaking. Thereafter ataxia and dysarthria progressed very slowly. At the age of 62 years, he was found to have extremely low serum vitamin E concentrations (<a href="#13" class="mim-tip-reference" title="Yokota, T., Wada, Y., Furukawa, T., Tsukagoshi, H., Uchihara, T., Watabiki, S. <strong>Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency.</strong> Ann. Neurol. 22: 84-87, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3477125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3477125</a>] [<a href="https://doi.org/10.1002/ana.410220119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3477125">Yokota et al., 1987</a>); his parents and children, all of whom were neurologically normal, were found to have concentrations that were low or below normal. Improvement or stabilization of his neurologic dysfunction and symptoms occurred with administration of large doses of alpha-tocopherol acetate. The man came from a small, isolated island located 290 km from the mainland of Japan, where his family had lived for many generations. The proband was found to be homozygous for a T-to-G transversion at nucleotide 303 of the TTP1 cDNA, predicted to result in replacement of histidine (CAT) with glutamine (CAG) as residue 101. The his101-to-gln substitution could be detected by the fact that it disrupted a restriction site for NcoI. A mutant allele was not detected in 150 unrelated Japanese subjects living in Tokyo; however, of 801 island inhabitants, 21 were heterozygous for the his101-to-gln mutation. All 21 were asymptomatic and had normal physical examinations, and none was known to be related to the patient. On the average, heterozygotes had serum vitamin E concentrations 25% lower than those in normal subjects. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7566022+3477125" 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="#12" class="mim-tip-reference" title="Yokota, T., Shiojiri, T., Gotoda, T., Arai, H. <strong>Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein. (Letter)</strong> New Eng. J. Med. 335: 1770-1771, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8965888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8965888</a>] [<a href="https://doi.org/10.1056/NEJM199612053352315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8965888">Yokota et al. (1996)</a> demonstrated that retinitis pigmentosa is also a feature of this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8965888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515378 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515378;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=rs397515378" 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=rs397515378" 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=RCV000009709 OR RCV000169325 OR RCV000794809" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009709, RCV000169325, RCV000794809" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009709...</a>
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<p><a href="#5" class="mim-tip-reference" title="Hentati, A., Deng, H.-X., Hung, W.-Y., Nayer, M., Ahmed, M. S., He, X., Tim, R., Stumpf, D. A., Siddique, T. <strong>Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.</strong> Ann. Neurol. 39: 295-300, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8602747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8602747</a>] [<a href="https://doi.org/10.1002/ana.410390305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8602747">Hentati et al. (1996)</a> found a severely affected patient with ataxia and peripheral neuropathy (<a href="/entry/277460">277460</a>) who had deletion of nucleotide 485 in the TTPA gene. The deletion resulted in a frameshift and generation of a premature stop codon at residue 176. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8602747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397515379 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515379;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/rs397515379?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=rs397515379" 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=rs397515379" 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=RCV000009710 OR RCV000055800 OR RCV000993523 OR RCV004814866" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009710, RCV000055800, RCV000993523, RCV004814866" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009710...</a>
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<p><a href="#5" class="mim-tip-reference" title="Hentati, A., Deng, H.-X., Hung, W.-Y., Nayer, M., Ahmed, M. S., He, X., Tim, R., Stumpf, D. A., Siddique, T. <strong>Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.</strong> Ann. Neurol. 39: 295-300, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8602747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8602747</a>] [<a href="https://doi.org/10.1002/ana.410390305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8602747">Hentati et al. (1996)</a> found a patient severely affected with ataxia and peripheral neuropathy (<a href="/entry/277460">277460</a>) who was homozygous for insertion of 2 thymine residues at nucleotide position 513 of their TTPA sequence, causing a frameshift and a premature stop codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8602747" 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 ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121917850 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917850;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/rs121917850?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=rs121917850" 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=rs121917850" 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=RCV000009711 OR RCV000055803 OR RCV002260962 OR RCV003155023 OR RCV003415680" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009711, RCV000055803, RCV002260962, RCV003155023, RCV003415680" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009711...</a>
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<p><a href="#5" class="mim-tip-reference" title="Hentati, A., Deng, H.-X., Hung, W.-Y., Nayer, M., Ahmed, M. S., He, X., Tim, R., Stumpf, D. A., Siddique, T. <strong>Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.</strong> Ann. Neurol. 39: 295-300, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8602747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8602747</a>] [<a href="https://doi.org/10.1002/ana.410390305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8602747">Hentati et al. (1996)</a> found a mildly affected patient with vitamin E deficiency (<a href="/entry/277460">277460</a>) who was a compound heterozygote for a 574G-A point mutation resulting in an arg192-to-his amino acid substitution, and the 513insTT TT mutation (<a href="#0004">600415.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8602747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121917851 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917851;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/rs121917851?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=rs121917851" 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=rs121917851" 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=RCV000009712 OR RCV000055797 OR RCV000818142 OR RCV004755726 OR RCV004814867" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009712, RCV000055797, RCV000818142, RCV004755726, RCV004814867" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009712...</a>
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<p>In 2 independent Canadian families with AVED (<a href="/entry/277460">277460</a>), <a href="#2" class="mim-tip-reference" title="Cavalier, L., Ouahchi, K., Kayden, H. J., Di Donato, S., Reutenauer, L., Mandel, J.-L., Koenig, M. <strong>Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.</strong> Am. J. Hum. Genet. 62: 301-310, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463307</a>] [<a href="https://doi.org/10.1086/301699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9463307">Cavalier et al. (1998)</a> found a truncating arg134-to-ter mutation in homozygous state in 1 patient with consanguineous parents and in compound heterozygous state with the 486delT mutation in the second nonconsanguineous family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9463307" 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>.0007 ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs181109321 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs181109321;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/rs181109321?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=rs181109321" 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=rs181109321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000415204 OR RCV001379026 OR RCV001810447" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000415204, RCV001379026, RCV001810447" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000415204...</a>
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<p>In a patient with ataxia and vitamin E deficiency (<a href="/entry/277460">277460</a>), <a href="#9" class="mim-tip-reference" title="Schuelke, M., Mayatepek, E., Inter, M., Becker, M., Pfeiffer, E., Speer, A., Hubner, C., Finckh, B. <strong>Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency.</strong> J. Pediat. 134: 240-244, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931538</a>] [<a href="https://doi.org/10.1016/s0022-3476(99)70424-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9931538">Schuelke et al. (1999)</a> identified a homozygous 552G-A mutation in the TTPA gene. Both parents were heterozygous for the mutation. The mutation did not cause an exchange of amino acids, but at the mRNA level, <a href="#9" class="mim-tip-reference" title="Schuelke, M., Mayatepek, E., Inter, M., Becker, M., Pfeiffer, E., Speer, A., Hubner, C., Finckh, B. <strong>Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency.</strong> J. Pediat. 134: 240-244, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931538</a>] [<a href="https://doi.org/10.1016/s0022-3476(99)70424-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9931538">Schuelke et al. (1999)</a> demonstrated that its position within a splice donor site led to abnormal splicing. Because liver tissue was not available for mRNA preparation, the authors amplified illegitimate transcripts from lymphoblastoid cells. In all mRNA transcripts, exon 3 was missing. In both parents, they detected both intact and truncated mRNA copies. The missplicing caused a shift in the reading frame with an aberrant amino acid sequence from codon 120 onward to a premature stop at codon 134. The truncated protein completely lacked the domains encoded by exons 3 to 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9931538" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Arita1995" class="mim-anchor"></a>
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Arita, M., Sato, Y., Miyata, A., Tanabe, T., Takahashi, E., Kayden, H. J., Arai, H., Inoue, K.
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<strong>Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization.</strong>
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Biochem. J. 306: 437-443, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887897</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887897" 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/10.1042/bj3060437" target="_blank">Full Text</a>]
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Cavalier, L., Ouahchi, K., Kayden, H. J., Di Donato, S., Reutenauer, L., Mandel, J.-L., Koenig, M.
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<strong>Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.</strong>
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Am. J. Hum. Genet. 62: 301-310, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463307</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9463307" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/301699" target="_blank">Full Text</a>]
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Cellini, E., Piacentini, S., Nacmias, B., Forleo, P., Tedde, A., Bagnoli, S., Ciantelli, M., Sorbi, S.
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<strong>A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia.</strong>
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Arch. Neurol. 59: 1952-1953, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12470185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12470185</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12470185" 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/10.1001/archneur.59.12.1952" target="_blank">Full Text</a>]
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Gotoda, T., Arita, M., Arai, H., Inoue, K., Yokota, T., Fukuo, Y., Yazaki, Y., Yamada, N.
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<strong>Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.</strong>
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New Eng. J. Med. 333: 1313-1318, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7566022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7566022</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7566022" 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/10.1056/NEJM199511163332003" target="_blank">Full Text</a>]
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Hentati, A., Deng, H.-X., Hung, W.-Y., Nayer, M., Ahmed, M. S., He, X., Tim, R., Stumpf, D. A., Siddique, T.
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<strong>Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.</strong>
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Ann. Neurol. 39: 295-300, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8602747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8602747</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8602747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410390305" target="_blank">Full Text</a>]
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</p>
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|
</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Kono2013" class="mim-anchor"></a>
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|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kono, N., Ohto, U., Hiramatsu, T., Urabe, M., Uchida, Y., Satow, Y., Arai, H.
|
|
<strong>Impaired alpha-TTP-PIPs interaction underlies familial vitamin E deficiency.</strong>
|
|
Science 340: 1106-1110, 2013.
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|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23599266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23599266</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23599266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1233508" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Ouahchi1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ouahchi, K., Arita, M., Kayden, H., Hentati, F., Ben Hamida, M., Sokol, R., Arai, H., Inoue, K., Mandel, J.-L., Koenig, M.
|
|
<strong>Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.</strong>
|
|
Nature Genet. 9: 141-145, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7719340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0295-141" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Robinson1982" class="mim-anchor"></a>
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<div class="">
|
|
<p class="mim-text-font">
|
|
Robinson, W. G., Kuwabara, T., Bieri, J. G.
|
|
<strong>The role of vitamin E and unsaturated fatty acids in the visual process.</strong>
|
|
Retina 2: 263-281, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6101134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6101134</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6101134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Schuelke1999" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Schuelke, M., Mayatepek, E., Inter, M., Becker, M., Pfeiffer, E., Speer, A., Hubner, C., Finckh, B.
|
|
<strong>Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency.</strong>
|
|
J. Pediat. 134: 240-244, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931538</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9931538" 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/s0022-3476(99)70424-5" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Terasawa2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Terasawa, Y., Ladha, Z., Leonard, S. W., Morrow, J. D., Newland, D., Sanan, D., Packer, L., Traber, M. G., Farese, R. V., Jr.
|
|
<strong>Increased atherosclerosis in hyperlipidemic mice deficient in alpha-tocopherol transfer protein and vitamin E.</strong>
|
|
Proc. Nat. Acad. Sci. 97: 13830-13834, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11095717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11095717</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11095717[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=11095717" 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.240462697" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Vasu2007" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Vasu, V. T., Hobson, B., Gohil, K., Cross, C. E.
|
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<strong>Genome-wide screening of alpha-tocopherol sensitive genes in heart tissue from alpha-tocopherol transfer protein null mice (ATTP-/-).</strong>
|
|
FEBS Lett. 581: 1572-1578, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17382327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17382327</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17382327[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=17382327" 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.febslet.2007.03.017" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Yokota1996" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Yokota, T., Shiojiri, T., Gotoda, T., Arai, H.
|
|
<strong>Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein. (Letter)</strong>
|
|
New Eng. J. Med. 335: 1770-1771, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8965888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8965888</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8965888" 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/10.1056/NEJM199612053352315" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Yokota1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yokota, T., Wada, Y., Furukawa, T., Tsukagoshi, H., Uchihara, T., Watabiki, S.
|
|
<strong>Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency.</strong>
|
|
Ann. Neurol. 22: 84-87, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3477125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3477125</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3477125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410220119" target="_blank">Full Text</a>]
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</p>
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</div>
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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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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
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</span>
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</div>
|
|
<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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Ada Hamosh - updated : 07/07/2014
|
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Patricia A. Hartz - updated : 7/6/2007<br>Cassandra L. Kniffin - updated : 2/13/2003<br>Victor A. McKusick - updated : 1/16/2001<br>Victor A. McKusick - updated : 4/2/1999<br>Victor A. McKusick - updated : 4/18/1998<br>Orest Hurko - updated : 5/6/1996
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Victor A. McKusick : 2/16/1995
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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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">
|
|
joanna : 03/24/2017
|
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</span>
|
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</div>
|
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
alopez : 07/07/2014<br>mgross : 7/27/2007<br>terry : 7/6/2007<br>carol : 7/2/2004<br>carol : 2/24/2003<br>ckniffin : 2/13/2003<br>mcapotos : 1/25/2001<br>mcapotos : 1/23/2001<br>terry : 1/16/2001<br>carol : 5/18/1999<br>carol : 4/2/1999<br>mgross : 4/2/1999<br>carol : 4/18/1998<br>terry : 3/27/1998<br>mark : 9/1/1997<br>jamie : 2/12/1997<br>jamie : 1/8/1997<br>mark : 1/6/1997<br>terry : 1/3/1997<br>mark : 5/6/1996<br>mark : 5/6/1996<br>terry : 2/6/1996<br>mark : 12/8/1995<br>terry : 12/8/1995<br>mimadm : 9/23/1995<br>terry : 7/10/1995<br>mark : 6/13/1995<br>terry : 4/20/1995<br>carol : 2/16/1995
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</span>
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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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|
<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 600415
|
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</span>
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</h3>
|
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</div>
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<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
TOCOPHEROL TRANSFER PROTEIN, ALPHA; TTPA
|
|
|
|
</span>
|
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</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
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<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
|
</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
TTP1<br />
|
|
ALPHA-TOCOPHEROL TRANSFER PROTEIN; ATTP<br />
|
|
ALPHA-TTP
|
|
</span>
|
|
</h4>
|
|
</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>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: TTPA</em></strong>
|
|
</span>
|
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</p>
|
|
</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 8q12.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 8:63,058,409-63,086,053 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
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<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
8q12.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Ataxia with isolated vitamin E deficiency
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
277460
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using rat alpha-Ttp to screen a liver cDNA library, followed by PCR, Arita et al. (1995) cloned full-length human alpha-TTP. The deduced 278-amino acid protein has a calculated molecular mass of 31.7 kD and shares 94% identity with rat alpha-Ttp. Northern blot analysis of several human tissues detected a 4.5-kb alpha-TTP transcript in liver only. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Arita et al. (1995) found that recombinant human alpha-TTP transferred alpha-tocopherol from liposomes to the heavy membrane fraction. </p><p>Kono et al. (2013) found that wildtype TTPA bound phosphatidylinositol phosphates (PIPs), whereas the arginine mutants that cause ataxia with vitamin E deficiency in humans did not. In addition, PIPs in the target membrane promoted the intermembrane transfer of alpha-tocopherol by TTPA. </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>Biochemical Features</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><strong><em>Crystal Structure</em></strong></p><p>
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Kono et al. (2013) determined the crystal structure of the TTPA-PIP complex, which revealed that disease-related arginine residues interacted with the phosphate groups of the PIPs and that the PIPs' binding caused the lid of the alpha-tocopherol-binding pocket to open. Kono et al. (2013) concluded that PIPs have a role in promoting the release of a ligand from a lipid transfer protein. </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 Southern blot hybridization of human/hamster somatic cell hybrid lines and fluorescence in situ hybridization, Arita et al. (1995) identified a single TTP1 gene in the chromosome 8q13.1-q13.3 region. </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>The role of TTP1 in vitamin E homeostasis, coupled with the mapping of ataxia with isolated vitamin E deficiency (AVED; 277460) also to 8q, prompted Ouahchi et al. (1995) to investigate a possible role of the TTP1 gene in that disorder. A mutation search of the TTP1 gene was made in 17 unrelated AVED families. In 15 families, the patients were homozygous for the linked haplotype, in agreement with known consanguinity in 12 cases and suggesting ancient consanguinity in the 3 remaining ones. In 68% of the mutant alleles in the 17 families analyzed, deletion of a single A at position 744 was found to have resulted in the replacement of the last 30 amino acids of the protein product by an aberrant 14 amino acid peptide. The mutation was referred to as Mediterranean because it appeared to have spread in North Africa and Italy. Two other independent frameshift mutations were found in patients of northern European ancestry. </p><p>Robinson et al. (1982) found in experiments in animals that diets deficient in vitamin E cause retinitis pigmentosa. For this reason, Yokota et al. (1996) studied the TTPA gene in 2 unrelated patients, a 60-year-old woman (patient 1) and a 47-year-old man (patient 2), who had autosomal recessive retinitis pigmentosa and low serum vitamin E concentrations. In both patients they found a his101-to-gln mutation (600415.0002). Initial visual symptoms were night blindness in patient 1, which began at the age of 43 years, and loss of peripheral vision in patient 2, which began at the age of 45 years. This patient also had mild ataxia, decreased vibration sense, and hyporeflexia. In each, ophthalmoscopy showed the typical changes for retinitis pigmentosa, Goldmann perimetry revealed a ring scotoma, and electroretinography showed no light-evoked electrical responses. </p><p>Cavalier et al. (1998) reported identification of 13 mutations in the TTPA gene in 27 families with AVED. Four mutations were found in 2 or more independent families: 744delA (600415.0001), which is the major mutation in North Africa, and 513insTT, 486delT, and arg134 to ter, in families of European origin. Compilation of the clinical records of 43 patients with documented mutation in the TTPA gene revealed differences from Friedreich ataxia (229300): cardiomyopathy was found in 19% of cases, whereas head titubation was found in 28% of cases and dystonia in an additional 13%. This study represented the largest group of patients and mutations reported for this often misdiagnosed disease and pointed to the need for an early differential diagnosis from Friedreich ataxia in order to initiate therapeutic and prophylactic vitamin E supplementation before irreversible damage develops. </p><p>Cellini et al. (2002) reported a patient with progressive ataxia from the age of 7 years, becoming wheelchair bound at age 17, as well as cerebellar atrophy and vitamin E deficiency. She had expanded CTA/CAG repeats suggestive of SCA8 (608768) and also had compound heterozygosity for mutations in the TTPA gene (600415.0004 and 600415.0006), yielding a nonfunctional protein. Supplementation with vitamin E did not improve symptoms. Cellini et al. (2002) suggested that the SCA mutations acted in the neurodegenerative process, worsening the neurologic signs caused by the vitamin E deficit. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Although lipid peroxidation in the subendothelial space had been hypothesized to play a central role in atherogenesis, the role of vitamin E in preventing lipid peroxidation and lesion development remained uncertain. Terasawa et al. (2000) showed that in atherosclerosis-susceptible apolipoprotein E knockout mice, vitamin E deficiency caused by disruption of the alpha-tocopherol transfer protein gene (Ttpa) increased the severity of atherosclerotic lesions in the proximal aorta. The increase was associated with increased levels of isoprostanes, a marker of lipid peroxidation, in aortic tissue. Ttpa -/- mice present a useful genetic model of vitamin E deficiency. </p><p>Using differential analysis, Vasu et al. (2007) compared gene expression in heart tissue of Attp -/- mice with that of wildtype mice. Of the 65 genes affected by Attp deletion, a cluster of genes related to immune function were downregulated, whereas genes related to lipid metabolism and inflammatory response were upregulated. Classic antioxidant genes showed no significant change in expression in Attp -/- mice. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>7 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>
|
|
<span class="mim-font">
|
|
<strong>.0001 ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY</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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TTPA, 1-BP DEL
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<br />
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SNP: rs397515377,
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gnomAD: rs397515377,
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|
|
ClinVar: RCV000009707, RCV000055806, RCV001046510
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 68% of the mutant alleles in 17 families with AVED (277460), Ouahchi et al. (1995) found a deletion of 1 bp (A) at position 744. The mutation, referred to as Mediterranean, appeared to have spread in North Africa and Italy. </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>
|
|
<span class="mim-font">
|
|
<strong>.0002 ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY</strong>
|
|
</span>
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</h4>
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|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
TTPA, HIS101GLN
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|
<br />
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|
|
SNP: rs121917849,
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|
|
gnomAD: rs121917849,
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|
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|
|
ClinVar: RCV000009708, RCV000055795
|
|
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|
</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Gotoda et al. (1995) found a missense mutation in the TTP1 gene in a 70-year-old man who had been well until the age of 52 years when he became aware of unsteadiness in the dark. At the age of 57, he began to have difficulty speaking. Thereafter ataxia and dysarthria progressed very slowly. At the age of 62 years, he was found to have extremely low serum vitamin E concentrations (Yokota et al., 1987); his parents and children, all of whom were neurologically normal, were found to have concentrations that were low or below normal. Improvement or stabilization of his neurologic dysfunction and symptoms occurred with administration of large doses of alpha-tocopherol acetate. The man came from a small, isolated island located 290 km from the mainland of Japan, where his family had lived for many generations. The proband was found to be homozygous for a T-to-G transversion at nucleotide 303 of the TTP1 cDNA, predicted to result in replacement of histidine (CAT) with glutamine (CAG) as residue 101. The his101-to-gln substitution could be detected by the fact that it disrupted a restriction site for NcoI. A mutant allele was not detected in 150 unrelated Japanese subjects living in Tokyo; however, of 801 island inhabitants, 21 were heterozygous for the his101-to-gln mutation. All 21 were asymptomatic and had normal physical examinations, and none was known to be related to the patient. On the average, heterozygotes had serum vitamin E concentrations 25% lower than those in normal subjects. </p><p>Yokota et al. (1996) demonstrated that retinitis pigmentosa is also a feature of this mutation. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TTPA, 1-BP DEL, 485T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515378,
|
|
|
|
|
|
|
|
ClinVar: RCV000009709, RCV000169325, RCV000794809
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hentati et al. (1996) found a severely affected patient with ataxia and peripheral neuropathy (277460) who had deletion of nucleotide 485 in the TTPA gene. The deletion resulted in a frameshift and generation of a premature stop codon at residue 176. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TTPA, 2-BP INS, 513TT
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515379,
|
|
|
|
|
|
gnomAD: rs397515379,
|
|
|
|
|
|
ClinVar: RCV000009710, RCV000055800, RCV000993523, RCV004814866
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hentati et al. (1996) found a patient severely affected with ataxia and peripheral neuropathy (277460) who was homozygous for insertion of 2 thymine residues at nucleotide position 513 of their TTPA sequence, causing a frameshift and a premature stop codon. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TTPA, ARG192HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121917850,
|
|
|
|
|
|
gnomAD: rs121917850,
|
|
|
|
|
|
ClinVar: RCV000009711, RCV000055803, RCV002260962, RCV003155023, RCV003415680
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hentati et al. (1996) found a mildly affected patient with vitamin E deficiency (277460) who was a compound heterozygote for a 574G-A point mutation resulting in an arg192-to-his amino acid substitution, and the 513insTT TT mutation (600415.0004). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TTPA, ARG134TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121917851,
|
|
|
|
|
|
gnomAD: rs121917851,
|
|
|
|
|
|
ClinVar: RCV000009712, RCV000055797, RCV000818142, RCV004755726, RCV004814867
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 independent Canadian families with AVED (277460), Cavalier et al. (1998) found a truncating arg134-to-ter mutation in homozygous state in 1 patient with consanguineous parents and in compound heterozygous state with the 486delT mutation in the second nonconsanguineous family. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TTPA, 552G-A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs181109321,
|
|
|
|
|
|
gnomAD: rs181109321,
|
|
|
|
|
|
ClinVar: RCV000415204, RCV001379026, RCV001810447
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with ataxia and vitamin E deficiency (277460), Schuelke et al. (1999) identified a homozygous 552G-A mutation in the TTPA gene. Both parents were heterozygous for the mutation. The mutation did not cause an exchange of amino acids, but at the mRNA level, Schuelke et al. (1999) demonstrated that its position within a splice donor site led to abnormal splicing. Because liver tissue was not available for mRNA preparation, the authors amplified illegitimate transcripts from lymphoblastoid cells. In all mRNA transcripts, exon 3 was missing. In both parents, they detected both intact and truncated mRNA copies. The missplicing caused a shift in the reading frame with an aberrant amino acid sequence from codon 120 onward to a premature stop at codon 134. The truncated protein completely lacked the domains encoded by exons 3 to 5. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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|
</div>
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</div>
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</div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Arita, M., Sato, Y., Miyata, A., Tanabe, T., Takahashi, E., Kayden, H. J., Arai, H., Inoue, K.
|
|
<strong>Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization.</strong>
|
|
Biochem. J. 306: 437-443, 1995.
|
|
|
|
|
|
[PubMed: 7887897]
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|
|
|
|
|
[Full Text: https://doi.org/10.1042/bj3060437]
|
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|
|
</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Cavalier, L., Ouahchi, K., Kayden, H. J., Di Donato, S., Reutenauer, L., Mandel, J.-L., Koenig, M.
|
|
<strong>Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.</strong>
|
|
Am. J. Hum. Genet. 62: 301-310, 1998.
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|
|
[PubMed: 9463307]
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[Full Text: https://doi.org/10.1086/301699]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Cellini, E., Piacentini, S., Nacmias, B., Forleo, P., Tedde, A., Bagnoli, S., Ciantelli, M., Sorbi, S.
|
|
<strong>A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia.</strong>
|
|
Arch. Neurol. 59: 1952-1953, 2002.
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|
[PubMed: 12470185]
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[Full Text: https://doi.org/10.1001/archneur.59.12.1952]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gotoda, T., Arita, M., Arai, H., Inoue, K., Yokota, T., Fukuo, Y., Yazaki, Y., Yamada, N.
|
|
<strong>Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.</strong>
|
|
New Eng. J. Med. 333: 1313-1318, 1995.
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|
[PubMed: 7566022]
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<strong>Impaired alpha-TTP-PIPs interaction underlies familial vitamin E deficiency.</strong>
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