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Entry
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- *613018 - TYROSINE AMINOTRANSFERASE; TAT
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*613018</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613018">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000198650;t=ENST00000355962" 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=6898" 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=613018" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000198650;t=ENST00000355962" 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_000353" 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_000353" 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=613018" 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=11776&isoform_id=11776_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/TAT" 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/36713,37502,114713,1217965,4507369,18089108,119579634,119579635,120660410,189066631,332368127" 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/P17735" 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=6898" 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=ENSG00000198650;t=ENST00000355962" 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=TAT" 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=TAT" 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+6898" 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/TAT" 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:6898" 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/6898" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr16&hgg_gene=ENST00000355962.5&hgg_start=71565660&hgg_end=71577092&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:11573" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/tat" 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=613018[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=613018[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/ENSG00000198650" 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=TAT" 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=TAT" 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=TAT" 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=TAT&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/PA36338" 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:11573" 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/FBgn0030558.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:98487" 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/TAT#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:98487" 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/6898/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=6898" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00009628;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-1144" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6898" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=TAT&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 124287008, 4887000<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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613018
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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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TYROSINE AMINOTRANSFERASE; TAT
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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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TAT, SOLUBLE
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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=TAT" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TAT</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/16/617?start=-3&limit=10&highlight=617">16q22.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:71565660-71577092&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">16:71,565,660-71,577,092</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">
|
|
<a href="/geneMap/16/617?start=-3&limit=10&highlight=617">
|
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16q22.2
|
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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">
|
|
Tyrosinemia, type II
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<a href="/entry/276600"> 276600 </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;">
|
|
<li><a href="/graph/linear/613018" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613018" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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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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<h4>
|
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|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
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<p>Tyrosine aminotransferase (TAT; <a href="https://enzyme.expasy.org/EC/2.6.1.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.6.1.5</a>) is a liver-specific enzyme that converts tyrosine to p-hydroxyphenylpyruvate in a pyridoxal phosphate-dependent transamination reaction (<a href="#9" class="mim-tip-reference" title="Rettenmeier, R., Natt, E., Zentgraf, H., Scherer, G. <strong>Isolation and characterization of the human tyrosine aminotransferase gene.</strong> Nucleic Acids Res. 18: 3853-3861, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1973834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1973834</a>] [<a href="https://doi.org/10.1093/nar/18.13.3853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1973834">Rettenmeier et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1973834" 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 TAT gene encodes a deduced 454-amino acid protein with a molecular mass of 50,399 daltons (<a href="#9" class="mim-tip-reference" title="Rettenmeier, R., Natt, E., Zentgraf, H., Scherer, G. <strong>Isolation and characterization of the human tyrosine aminotransferase gene.</strong> Nucleic Acids Res. 18: 3853-3861, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1973834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1973834</a>] [<a href="https://doi.org/10.1093/nar/18.13.3853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1973834">Rettenmeier et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1973834" 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 analysis of cDNA and genomic clones, <a href="#9" class="mim-tip-reference" title="Rettenmeier, R., Natt, E., Zentgraf, H., Scherer, G. <strong>Isolation and characterization of the human tyrosine aminotransferase gene.</strong> Nucleic Acids Res. 18: 3853-3861, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1973834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1973834</a>] [<a href="https://doi.org/10.1093/nar/18.13.3853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1973834">Rettenmeier et al. (1990)</a> determined that the TAT gene extends over 10.9 kb and contains 12 exons giving rise to an mRNA that is 2,754 nucleotides long, excluding the poly(A) tail. The noncoding region of the 3-prime exon contains a complete Alu element. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1973834" 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="Barton, D. E., Yang-Feng, T. L., Francke, U. <strong>The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22-q24) by somatic cell hybrid analysis and in situ hybridization.</strong> Hum. Genet. 72: 221-224, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2870017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2870017</a>] [<a href="https://doi.org/10.1007/BF00291881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2870017">Barton et al. (1986)</a> assigned the tyrosine aminotransferase gene to 16q22-q24 by means of a gene clone in somatic cell hybrid analysis and in situ hybridization. <a href="#5" class="mim-tip-reference" title="Natt, E., Kao, F.-T., Rettenmeier, R., Scherer, G. <strong>Assignment of the human tyrosine aminotransferase gene to chromosome 16.</strong> Hum. Genet. 72: 225-228, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2870018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2870018</a>] [<a href="https://doi.org/10.1007/BF00291882" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2870018">Natt et al. (1986)</a> confirmed the assignment to chromosome 16. The assignment is also supported by homology to the mouse. <a href="#4" class="mim-tip-reference" title="Muller, G., Scherer, G., Zentgraf, H., Ruppert, S., Herrmann, B., Lehrach, H., Schutz, G. <strong>Isolation, characterization and chromosomal mapping of the mouse tyrosine aminotransferase gene.</strong> J. Molec. Biol. 184: 367-373, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2413215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2413215</a>] [<a href="https://doi.org/10.1016/0022-2836(85)90287-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2413215">Muller et al. (1985)</a> assigned the TAT locus to mouse chromosome 8 which carries 6 other loci that are on human 16: APRT (<a href="/entry/102600">102600</a>), CTRB (<a href="/entry/118890">118890</a>), HP (<a href="/entry/140100">140100</a>), GOT2 (<a href="/entry/138150">138150</a>), MT1 (<a href="/entry/156350">156350</a>), and MT2 (<a href="/entry/156360">156360</a>). All are on human 16q. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2870018+2870017+2413215" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Natt, E., Westphal, E.-M., Toth-Fejel, S. E., Magenis, R. E., Buist, N. R. M., Rettenmeier, R., Scherer, G. <strong>Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1-q22.3 in a patient with tyrosinemia type II.</strong> Hum. Genet. 77: 352-358, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2891604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2891604</a>] [<a href="https://doi.org/10.1007/BF00291426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2891604">Natt et al. (1987)</a> narrowed the assignment of TAT to 16q22.1-q22.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2891604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Schmid, W., Muller, G., Schutz, G., Gluecksohn-Waelsch, S. <strong>Deletions near the albino locus on chromosome 7 of the mouse affect the level of tyrosine aminotransferase mRNA.</strong> Proc. Nat. Acad. Sci. 82: 2866-2869, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2859594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2859594</a>] [<a href="https://doi.org/10.1073/pnas.82.9.2866" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2859594">Schmid et al. (1985)</a> identified a regulatory locus near the albino locus on mouse chromosome 7 that affects the level of Tat mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2859594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Killary, A. M., Fournier, R. E. K. <strong>A genetic analysis of extinction: trans-dominant loci regulate expression of liver-specific traits in hepatoma hybrid cells.</strong> Cell 38: 523-534, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6147198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6147198</a>] [<a href="https://doi.org/10.1016/0092-8674(84)90507-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6147198">Killary and Fournier (1984)</a> studied extinction of liver-specific tyrosine aminotransferase when rat hepatoma cells were fused with mouse fibroblasts. By microcell hybrids, they showed that mouse chromosome 11 was specifically responsible for extinction and that homologous human chromosome 17 had the same activity. The Tse1 gene (PRKAR1A; <a href="/entry/188830">188830</a>) in the mouse represses gene expression in trans. To search for other Tse1-responsive genes, <a href="#3" class="mim-tip-reference" title="Lem, J., Chin, A. C., Thayer, M. J., Leach, R. J., Fournier, R. E. K. <strong>Coordinate regulation of two genes encoding gluconeogenic enzymes by the trans-dominant locus Tse-1.</strong> Proc. Nat. Acad. Sci. 85: 7302-7306, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2902627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2902627</a>] [<a href="https://doi.org/10.1073/pnas.85.19.7302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2902627">Lem et al. (1988)</a> screened for expression of liver-specific mRNAs in hepatoma microcell hybrids containing mouse chromosome 11 or human chromosome 17. Whereas most liver gene activity was unaffected in such hybrids, phosphoenolpyruvate carboxykinase (<a href="/entry/261650">261650</a>, <a href="/entry/261680">261680</a>) and tyrosine aminotransferase gene expression was coordinately repressed in these clones. Extinction of both genes was apparently mediated by a single genetic locus on human chromosome 17. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2902627+6147198" 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>To identify the causative mutations in TAT alleles cloned from 3 patients with type II tyrosinemia (TYRSN2; <a href="/entry/276600">276600</a>), <a href="#6" class="mim-tip-reference" title="Natt, E., Kida, K., Odievre, M., Di Rocco, M., Scherer, G. <strong>Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.</strong> Proc. Nat. Acad. Sci. 89: 9297-9301, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1357662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1357662</a>] [<a href="https://doi.org/10.1073/pnas.89.19.9297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1357662">Natt et al. (1992)</a> constructed chimeric genes from normal and mutant TAT alleles and tested their ability to direct TAT activity in a transient expression assay. DNA sequence analysis of the regions identified as nonfunctional revealed 5 mutant alleles, one of which carried 2 different point mutations (<a href="#0001">613018.0001</a>-<a href="#0005">613018.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1357662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review of 143 patients in 106 families with tyrosinemia type II, <a href="#8" class="mim-tip-reference" title="Pena-Quintana, L., Scherer, G., Curbelo-Estevez, M. L., Jimenez-Acosta, F., Hartmann, B., La Roche, F., Meavilla-Olivas, S., Perez-Cerda, C., Garcia-Segarra, N., Giguere, Y., Huppke, P., Mitchell, G. A., Monch, E., Trump, D., Vianey-Saban, C., Trimble, E. R., Vitoria-Minana, I., Reyes-Suarez, D., Ramirez-Lorenzo, T., Tugores, A. <strong>Tyrosinemia type II: mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.</strong> Clin. Genet. 92: 306-317, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28255985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28255985</a>] [<a href="https://doi.org/10.1111/cge.13003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28255985">Pena-Quintana et al. (2017)</a> reported 36 mutations in the TAT gene, including 11 novel variants. The mutations included 3 large deletions, 21 missense and 5 nonsense amino acid substitutions, 5 frameshifts, and 2 splice variants. The most common mutation (P406L; <a href="#0006">613018.0006</a>) was reported in 5 patients from apparently unrelated families from the island of Gran Canaria, Spain (a population of Mediterranean ancestry). Asymptomatic parents in these families were heterozygous for the mutations, and no genotype-phenotype correlation was apparent. In addition to Gran Canaria, other areas with evidence of founder effects included northern Italy, Tunisia, Palestine, and Lebanon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28255985" 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> rs118203914 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203914;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/rs118203914?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=rs118203914" 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=rs118203914" 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=RCV000000429 OR RCV000760433" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000429, RCV000760433" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000429...</a>
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<p>In a French patient with tyrosinemia II (TYRSN2; <a href="/entry/276600">276600</a>), <a href="#6" class="mim-tip-reference" title="Natt, E., Kida, K., Odievre, M., Di Rocco, M., Scherer, G. <strong>Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.</strong> Proc. Nat. Acad. Sci. 89: 9297-9301, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1357662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1357662</a>] [<a href="https://doi.org/10.1073/pnas.89.19.9297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1357662">Natt et al. (1992)</a> identified a CGA-to-TGA transition in the TAT gene, resulting in an arg57-to-ter (R57X) substitution. The mutation was suspected to be present in homozygous state because the patient's parents came from a small village in Lombardy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1357662" 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 TYROSINEMIA, TYPE II</strong>
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TAT, SER223TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs118203915 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203915;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=rs118203915" 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=rs118203915" 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=RCV000000430" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000430" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000430</a>
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<p>In a Japanese patient with type II tyrosinemia (TYRSN2; <a href="/entry/276600">276600</a>), <a href="#6" class="mim-tip-reference" title="Natt, E., Kida, K., Odievre, M., Di Rocco, M., Scherer, G. <strong>Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.</strong> Proc. Nat. Acad. Sci. 89: 9297-9301, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1357662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1357662</a>] [<a href="https://doi.org/10.1073/pnas.89.19.9297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1357662">Natt et al. (1992)</a> identified compound heterozygosity for mutations in the TAT gene: a TCA-to-TGA transversion resulting in a ser223-to-ter substitution (S223X), and a splice site mutation in intron 2 (<a href="#0005">613018.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1357662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 TYROSINEMIA, TYPE II</strong>
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TAT, ARG417TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs118203916 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203916;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=rs118203916" 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=rs118203916" 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=RCV000000431" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000431" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000431</a>
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<span class="mim-text-font">
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<p>In a French patient with type II tyrosinemia (TYRSN2; <a href="/entry/276600">276600</a>), <a href="#6" class="mim-tip-reference" title="Natt, E., Kida, K., Odievre, M., Di Rocco, M., Scherer, G. <strong>Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.</strong> Proc. Nat. Acad. Sci. 89: 9297-9301, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1357662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1357662</a>] [<a href="https://doi.org/10.1073/pnas.89.19.9297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1357662">Natt et al. (1992)</a> identified compound heterozygosity for a mutation in the TAT gene: a CGA-to-TGA transition resulting in an arg417-to-ter substitution (R417X) on one allele and a G362V missense mutation and a splice mutation on the other (<a href="#0004">613018.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1357662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0004 TYROSINEMIA, TYPE II</strong>
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TAT, IVS8DS, T-G, +2 AND GLY362VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776511 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776511;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=rs587776511" 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=rs587776511" 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=RCV000000432" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000432" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000432</a>
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<p>In a French patient with tyrosinemia II (TYRSN2; <a href="/entry/276600">276600</a>) who had an R417X mutation on 1 allele (<a href="#0003">613018.0003</a>) of the TAT gene, <a href="#6" class="mim-tip-reference" title="Natt, E., Kida, K., Odievre, M., Di Rocco, M., Scherer, G. <strong>Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.</strong> Proc. Nat. Acad. Sci. 89: 9297-9301, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1357662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1357662</a>] [<a href="https://doi.org/10.1073/pnas.89.19.9297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1357662">Natt et al. (1992)</a> identified 2 point mutations on the other allele: one was a missense mutation, gly362-to-val (G362V), resulting from a GGA-to-GTA transversion; the other was a mutation in the donor splice site of intron 8 converting the second nucleotide from T to G. Identical GT-to-GG splice donor mutations in the beta-globin gene and in the factor IX gene lead to beta-0-thalassemia and severe hemophilia B, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1357662" 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 TYROSINEMIA, TYPE II</strong>
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TAT, IVS2AS, A-G, -5
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776512 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776512;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=rs587776512" 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=rs587776512" 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=RCV000000433" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000433" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000433</a>
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</span>
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<p>In a Japanese patient with type II tyrosinemia (TYRSN2; <a href="/entry/276600">276600</a>), <a href="#6" class="mim-tip-reference" title="Natt, E., Kida, K., Odievre, M., Di Rocco, M., Scherer, G. <strong>Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.</strong> Proc. Nat. Acad. Sci. 89: 9297-9301, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1357662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1357662</a>] [<a href="https://doi.org/10.1073/pnas.89.19.9297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1357662">Natt et al. (1992)</a> identified compound heterozygosity for mutations in the TAT gene: an S223X substitution (<a href="#0002">613018.0002</a>) and an A-to-G transition in intron 2, creating a new splice acceptor site 4 nucleotides 5-prime to the normal splice position. A new reading frame resulted, terminating at codon 91/92 in exon C. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1357662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0006 TYROSINEMIA, TYPE II</strong>
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TAT, PRO406LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2044180572 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2044180572;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=rs2044180572" 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=rs2044180572" 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=RCV001255958" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001255958" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001255958</a>
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<span class="mim-text-font">
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<p>In 5 probands with tyrosinemia type II (TYRSN2; <a href="/entry/276600">276600</a>) from apparently unrelated families from the island of Gran Canaria, Spain (a population of Mediterranean ancestry), <a href="#8" class="mim-tip-reference" title="Pena-Quintana, L., Scherer, G., Curbelo-Estevez, M. L., Jimenez-Acosta, F., Hartmann, B., La Roche, F., Meavilla-Olivas, S., Perez-Cerda, C., Garcia-Segarra, N., Giguere, Y., Huppke, P., Mitchell, G. A., Monch, E., Trump, D., Vianey-Saban, C., Trimble, E. R., Vitoria-Minana, I., Reyes-Suarez, D., Ramirez-Lorenzo, T., Tugores, A. <strong>Tyrosinemia type II: mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.</strong> Clin. Genet. 92: 306-317, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28255985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28255985</a>] [<a href="https://doi.org/10.1111/cge.13003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28255985">Pena-Quintana et al. (2017)</a> identified a c.1217C-T transition in exon 11 of the TAT gene, resulting in a pro406-to-leu (P406L) substitution. The mutation was present in homozygosity in 4 patients and in compound heterozygosity in 1. The parents were heterozygous for the mutations. No genotype/phenotype correlation was apparent. The authors noted that P406L was the most common mutation among 36 identified in 143 patients in 106 families with the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28255985" 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="Barton1986" class="mim-anchor"></a>
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Barton, D. E., Yang-Feng, T. L., Francke, U.
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<strong>The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22-q24) by somatic cell hybrid analysis and in situ hybridization.</strong>
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Hum. Genet. 72: 221-224, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2870017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2870017</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2870017" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00291881" target="_blank">Full Text</a>]
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Killary, A. M., Fournier, R. E. K.
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<strong>A genetic analysis of extinction: trans-dominant loci regulate expression of liver-specific traits in hepatoma hybrid cells.</strong>
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Cell 38: 523-534, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6147198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6147198</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6147198" 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/10.1016/0092-8674(84)90507-5" target="_blank">Full Text</a>]
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<a id="Lem1988" class="mim-anchor"></a>
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Lem, J., Chin, A. C., Thayer, M. J., Leach, R. J., Fournier, R. E. K.
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<strong>Coordinate regulation of two genes encoding gluconeogenic enzymes by the trans-dominant locus Tse-1.</strong>
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Proc. Nat. Acad. Sci. 85: 7302-7306, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2902627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2902627</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2902627" 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.85.19.7302" target="_blank">Full Text</a>]
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Muller, G., Scherer, G., Zentgraf, H., Ruppert, S., Herrmann, B., Lehrach, H., Schutz, G.
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<strong>Isolation, characterization and chromosomal mapping of the mouse tyrosine aminotransferase gene.</strong>
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J. Molec. Biol. 184: 367-373, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2413215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2413215</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2413215" 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/10.1016/0022-2836(85)90287-6" target="_blank">Full Text</a>]
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Natt, E., Kao, F.-T., Rettenmeier, R., Scherer, G.
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<strong>Assignment of the human tyrosine aminotransferase gene to chromosome 16.</strong>
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Hum. Genet. 72: 225-228, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2870018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2870018</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2870018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00291882" target="_blank">Full Text</a>]
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Natt, E., Kida, K., Odievre, M., Di Rocco, M., Scherer, G.
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<strong>Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.</strong>
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Proc. Nat. Acad. Sci. 89: 9297-9301, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1357662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1357662</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1357662" 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.89.19.9297" target="_blank">Full Text</a>]
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Natt, E., Westphal, E.-M., Toth-Fejel, S. E., Magenis, R. E., Buist, N. R. M., Rettenmeier, R., Scherer, G.
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<strong>Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1-q22.3 in a patient with tyrosinemia type II.</strong>
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Hum. Genet. 77: 352-358, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2891604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2891604</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2891604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00291426" target="_blank">Full Text</a>]
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<a id="Pena-Quintana2017" class="mim-anchor"></a>
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Pena-Quintana, L., Scherer, G., Curbelo-Estevez, M. L., Jimenez-Acosta, F., Hartmann, B., La Roche, F., Meavilla-Olivas, S., Perez-Cerda, C., Garcia-Segarra, N., Giguere, Y., Huppke, P., Mitchell, G. A., Monch, E., Trump, D., Vianey-Saban, C., Trimble, E. R., Vitoria-Minana, I., Reyes-Suarez, D., Ramirez-Lorenzo, T., Tugores, A.
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<strong>Tyrosinemia type II: mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.</strong>
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Clin. Genet. 92: 306-317, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28255985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28255985</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28255985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.13003" target="_blank">Full Text</a>]
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Rettenmeier, R., Natt, E., Zentgraf, H., Scherer, G.
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<strong>Isolation and characterization of the human tyrosine aminotransferase gene.</strong>
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Nucleic Acids Res. 18: 3853-3861, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1973834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1973834</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1973834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/18.13.3853" target="_blank">Full Text</a>]
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<a id="Schmid1985" class="mim-anchor"></a>
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Schmid, W., Muller, G., Schutz, G., Gluecksohn-Waelsch, S.
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<strong>Deletions near the albino locus on chromosome 7 of the mouse affect the level of tyrosine aminotransferase mRNA.</strong>
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Proc. Nat. Acad. Sci. 82: 2866-2869, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2859594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2859594</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2859594" 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.82.9.2866" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 09/15/2020
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Carol A. Bocchini : 9/16/2009
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carol : 09/15/2020
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carol : 03/26/2014<br>terry : 9/17/2009<br>carol : 9/17/2009
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<strong>*</strong> 613018
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TYROSINE AMINOTRANSFERASE; TAT
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TAT, SOLUBLE
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<strong><em>HGNC Approved Gene Symbol: TAT</em></strong>
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<strong>SNOMEDCT:</strong> 124287008, 4887000;
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Cytogenetic location: 16q22.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:71,565,660-71,577,092 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<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-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</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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16q22.2
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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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Tyrosinemia, type II
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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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276600
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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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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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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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<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>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</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>Tyrosine aminotransferase (TAT; EC 2.6.1.5) is a liver-specific enzyme that converts tyrosine to p-hydroxyphenylpyruvate in a pyridoxal phosphate-dependent transamination reaction (Rettenmeier et al., 1990). </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>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The TAT gene encodes a deduced 454-amino acid protein with a molecular mass of 50,399 daltons (Rettenmeier et al., 1990). </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 Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By analysis of cDNA and genomic clones, Rettenmeier et al. (1990) determined that the TAT gene extends over 10.9 kb and contains 12 exons giving rise to an mRNA that is 2,754 nucleotides long, excluding the poly(A) tail. The noncoding region of the 3-prime exon contains a complete Alu element. </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>Barton et al. (1986) assigned the tyrosine aminotransferase gene to 16q22-q24 by means of a gene clone in somatic cell hybrid analysis and in situ hybridization. Natt et al. (1986) confirmed the assignment to chromosome 16. The assignment is also supported by homology to the mouse. Muller et al. (1985) assigned the TAT locus to mouse chromosome 8 which carries 6 other loci that are on human 16: APRT (102600), CTRB (118890), HP (140100), GOT2 (138150), MT1 (156350), and MT2 (156360). All are on human 16q. </p><p>Natt et al. (1987) narrowed the assignment of TAT to 16q22.1-q22.3. </p><p>Schmid et al. (1985) identified a regulatory locus near the albino locus on mouse chromosome 7 that affects the level of Tat mRNA. </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>Killary and Fournier (1984) studied extinction of liver-specific tyrosine aminotransferase when rat hepatoma cells were fused with mouse fibroblasts. By microcell hybrids, they showed that mouse chromosome 11 was specifically responsible for extinction and that homologous human chromosome 17 had the same activity. The Tse1 gene (PRKAR1A; 188830) in the mouse represses gene expression in trans. To search for other Tse1-responsive genes, Lem et al. (1988) screened for expression of liver-specific mRNAs in hepatoma microcell hybrids containing mouse chromosome 11 or human chromosome 17. Whereas most liver gene activity was unaffected in such hybrids, phosphoenolpyruvate carboxykinase (261650, 261680) and tyrosine aminotransferase gene expression was coordinately repressed in these clones. Extinction of both genes was apparently mediated by a single genetic locus on human chromosome 17. </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">
|
|
<p>To identify the causative mutations in TAT alleles cloned from 3 patients with type II tyrosinemia (TYRSN2; 276600), Natt et al. (1992) constructed chimeric genes from normal and mutant TAT alleles and tested their ability to direct TAT activity in a transient expression assay. DNA sequence analysis of the regions identified as nonfunctional revealed 5 mutant alleles, one of which carried 2 different point mutations (613018.0001-613018.0005). </p><p>In a review of 143 patients in 106 families with tyrosinemia type II, Pena-Quintana et al. (2017) reported 36 mutations in the TAT gene, including 11 novel variants. The mutations included 3 large deletions, 21 missense and 5 nonsense amino acid substitutions, 5 frameshifts, and 2 splice variants. The most common mutation (P406L; 613018.0006) was reported in 5 patients from apparently unrelated families from the island of Gran Canaria, Spain (a population of Mediterranean ancestry). Asymptomatic parents in these families were heterozygous for the mutations, and no genotype-phenotype correlation was apparent. In addition to Gran Canaria, other areas with evidence of founder effects included northern Italy, Tunisia, Palestine, and Lebanon. </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>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>6 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 TYROSINEMIA, TYPE II</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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|
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TAT, ARG57TER
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<br />
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|
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SNP: rs118203914,
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|
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gnomAD: rs118203914,
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|
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ClinVar: RCV000000429, RCV000760433
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French patient with tyrosinemia II (TYRSN2; 276600), Natt et al. (1992) identified a CGA-to-TGA transition in the TAT gene, resulting in an arg57-to-ter (R57X) substitution. The mutation was suspected to be present in homozygous state because the patient's parents came from a small village in Lombardy. </p>
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|
</span>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
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|
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</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 TYROSINEMIA, TYPE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TAT, SER223TER
|
|
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|
|
<br />
|
|
|
|
SNP: rs118203915,
|
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|
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ClinVar: RCV000000430
|
|
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|
|
</span>
|
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</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with type II tyrosinemia (TYRSN2; 276600), Natt et al. (1992) identified compound heterozygosity for mutations in the TAT gene: a TCA-to-TGA transversion resulting in a ser223-to-ter substitution (S223X), and a splice site mutation in intron 2 (613018.0005). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 TYROSINEMIA, TYPE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TAT, ARG417TER
|
|
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|
<br />
|
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|
|
SNP: rs118203916,
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|
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ClinVar: RCV000000431
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French patient with type II tyrosinemia (TYRSN2; 276600), Natt et al. (1992) identified compound heterozygosity for a mutation in the TAT gene: a CGA-to-TGA transition resulting in an arg417-to-ter substitution (R417X) on one allele and a G362V missense mutation and a splice mutation on the other (613018.0004). </p>
|
|
</span>
|
|
</div>
|
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|
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|
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<div>
|
|
<br />
|
|
</div>
|
|
|
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</div>
|
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|
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|
|
<div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 TYROSINEMIA, TYPE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
TAT, IVS8DS, T-G, +2 AND GLY362VAL
|
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<br />
|
|
|
|
SNP: rs587776511,
|
|
|
|
|
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|
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ClinVar: RCV000000432
|
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|
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</span>
|
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</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French patient with tyrosinemia II (TYRSN2; 276600) who had an R417X mutation on 1 allele (613018.0003) of the TAT gene, Natt et al. (1992) identified 2 point mutations on the other allele: one was a missense mutation, gly362-to-val (G362V), resulting from a GGA-to-GTA transversion; the other was a mutation in the donor splice site of intron 8 converting the second nucleotide from T to G. Identical GT-to-GG splice donor mutations in the beta-globin gene and in the factor IX gene lead to beta-0-thalassemia and severe hemophilia B, respectively. </p>
|
|
</span>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
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|
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</div>
|
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|
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 TYROSINEMIA, TYPE II</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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TAT, IVS2AS, A-G, -5
|
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<br />
|
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|
|
SNP: rs587776512,
|
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|
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ClinVar: RCV000000433
|
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|
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</span>
|
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</div>
|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with type II tyrosinemia (TYRSN2; 276600), Natt et al. (1992) identified compound heterozygosity for mutations in the TAT gene: an S223X substitution (613018.0002) and an A-to-G transition in intron 2, creating a new splice acceptor site 4 nucleotides 5-prime to the normal splice position. A new reading frame resulted, terminating at codon 91/92 in exon C. </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>.0006 TYROSINEMIA, TYPE II</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
TAT, PRO406LEU
|
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<br />
|
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SNP: rs2044180572,
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ClinVar: RCV001255958
|
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</span>
|
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</div>
|
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|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 probands with tyrosinemia type II (TYRSN2; 276600) from apparently unrelated families from the island of Gran Canaria, Spain (a population of Mediterranean ancestry), Pena-Quintana et al. (2017) identified a c.1217C-T transition in exon 11 of the TAT gene, resulting in a pro406-to-leu (P406L) substitution. The mutation was present in homozygosity in 4 patients and in compound heterozygosity in 1. The parents were heterozygous for the mutations. No genotype/phenotype correlation was apparent. The authors noted that P406L was the most common mutation among 36 identified in 143 patients in 106 families with the disorder. </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>REFERENCES</strong>
|
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</span>
|
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</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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|
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<div>
|
|
<ol>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Barton, D. E., Yang-Feng, T. L., Francke, U.
|
|
<strong>The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22-q24) by somatic cell hybrid analysis and in situ hybridization.</strong>
|
|
Hum. Genet. 72: 221-224, 1986.
|
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|
|
|
|
[PubMed: 2870017]
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|
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[Full Text: https://doi.org/10.1007/BF00291881]
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Killary, A. M., Fournier, R. E. K.
|
|
<strong>A genetic analysis of extinction: trans-dominant loci regulate expression of liver-specific traits in hepatoma hybrid cells.</strong>
|
|
Cell 38: 523-534, 1984.
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|
|
[PubMed: 6147198]
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[Full Text: https://doi.org/10.1016/0092-8674(84)90507-5]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Lem, J., Chin, A. C., Thayer, M. J., Leach, R. J., Fournier, R. E. K.
|
|
<strong>Coordinate regulation of two genes encoding gluconeogenic enzymes by the trans-dominant locus Tse-1.</strong>
|
|
Proc. Nat. Acad. Sci. 85: 7302-7306, 1988.
|
|
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|
|
[PubMed: 2902627]
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|
[Full Text: https://doi.org/10.1073/pnas.85.19.7302]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Muller, G., Scherer, G., Zentgraf, H., Ruppert, S., Herrmann, B., Lehrach, H., Schutz, G.
|
|
<strong>Isolation, characterization and chromosomal mapping of the mouse tyrosine aminotransferase gene.</strong>
|
|
J. Molec. Biol. 184: 367-373, 1985.
|
|
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|
|
[PubMed: 2413215]
|
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|
|
[Full Text: https://doi.org/10.1016/0022-2836(85)90287-6]
|
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|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Natt, E., Kao, F.-T., Rettenmeier, R., Scherer, G.
|
|
<strong>Assignment of the human tyrosine aminotransferase gene to chromosome 16.</strong>
|
|
Hum. Genet. 72: 225-228, 1986.
|
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|
|
[PubMed: 2870018]
|
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[Full Text: https://doi.org/10.1007/BF00291882]
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</p>
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Natt, E., Kida, K., Odievre, M., Di Rocco, M., Scherer, G.
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<strong>Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.</strong>
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Proc. Nat. Acad. Sci. 89: 9297-9301, 1992.
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[PubMed: 1357662]
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[Full Text: https://doi.org/10.1073/pnas.89.19.9297]
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Natt, E., Westphal, E.-M., Toth-Fejel, S. E., Magenis, R. E., Buist, N. R. M., Rettenmeier, R., Scherer, G.
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<strong>Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1-q22.3 in a patient with tyrosinemia type II.</strong>
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Hum. Genet. 77: 352-358, 1987.
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[PubMed: 2891604]
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[Full Text: https://doi.org/10.1007/BF00291426]
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Pena-Quintana, L., Scherer, G., Curbelo-Estevez, M. L., Jimenez-Acosta, F., Hartmann, B., La Roche, F., Meavilla-Olivas, S., Perez-Cerda, C., Garcia-Segarra, N., Giguere, Y., Huppke, P., Mitchell, G. A., Monch, E., Trump, D., Vianey-Saban, C., Trimble, E. R., Vitoria-Minana, I., Reyes-Suarez, D., Ramirez-Lorenzo, T., Tugores, A.
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<strong>Tyrosinemia type II: mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.</strong>
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Clin. Genet. 92: 306-317, 2017.
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[PubMed: 28255985]
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[Full Text: https://doi.org/10.1111/cge.13003]
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Rettenmeier, R., Natt, E., Zentgraf, H., Scherer, G.
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<strong>Isolation and characterization of the human tyrosine aminotransferase gene.</strong>
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Nucleic Acids Res. 18: 3853-3861, 1990.
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[PubMed: 1973834]
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[Full Text: https://doi.org/10.1093/nar/18.13.3853]
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Schmid, W., Muller, G., Schutz, G., Gluecksohn-Waelsch, S.
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<strong>Deletions near the albino locus on chromosome 7 of the mouse affect the level of tyrosine aminotransferase mRNA.</strong>
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Proc. Nat. Acad. Sci. 82: 2866-2869, 1985.
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[PubMed: 2859594]
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[Full Text: https://doi.org/10.1073/pnas.82.9.2866]
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Sonja A. Rasmussen - updated : 09/15/2020
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