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Entry
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- *603861 - SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER), MEMBER 15; SLC25A15
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- OMIM
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<p>
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<span class="h4">*603861</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603861">Table View</a>
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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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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<h4 class="panel-title">
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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 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="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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<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=ENSG00000102743;t=ENST00000338625" 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=10166" 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=603861" 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 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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<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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<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=ENSG00000102743;t=ENST00000338625" 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_014252" 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_014252" 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=603861" 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=04838&isoform_id=04838_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/SLC25A15" 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/5565862,7657585,10503963,12803731,15866614,20139303,119629035,189069336,194384530" 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/Q9Y619" 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=10166" 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=ENSG00000102743;t=ENST00000338625" 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=SLC25A15" 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=SLC25A15" 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+10166" 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/SLC25A15" 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:10166" 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/10166" 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=chr13&hgg_gene=ENST00000338625.9&hgg_start=40789611&hgg_end=40812460&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 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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<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:10985" 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/slc25a15" 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=603861[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=603861[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://www.deciphergenomics.org/gene/SLC25A15/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000102743" 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=SLC25A15" 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=SLC25A15" 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=SLC25A15" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/SLC25A15" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SLC25A15&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/PA35861" 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:10985" 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/FBgn0030218.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:1342274" 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/SLC25A15#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:1342274" 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/10166/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=10166" 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=WBGene00020422;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-060526-35" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=SLC25A15&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> 30287008<br />
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<strong>ICD10CM:</strong> E72.4<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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603861
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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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SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER), MEMBER 15; SLC25A15
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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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ORNITHINE TRANSPORTER, MITOCHONDRIAL, 1; ORNT1
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SLC25A15" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC25A15</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/13/124?start=-3&limit=10&highlight=124">13q14.11</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr13:40789611-40812460&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'})">13:40,789,611-40,812,460</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">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/13/124?start=-3&limit=10&highlight=124">
|
|
13q14.11
|
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</a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/238970"> 238970 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<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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|
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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/603861" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/603861" 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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<span class="mim-font">
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<p>The SLC25A15 gene encodes the mitochondrial ornithine transporter, which transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. This is a vital step in the urea cycle, which serves to eliminate toxic ammonium ions from the breakdown of nitrogen (summary by <a href="#2" class="mim-tip-reference" title="Camacho, J. A., Obie, C., Biery, B., Goodman, B. K., Hu, C.-A., Almashanu, S., Steel, G., Casey, R., Lambert, M., Mitchell, G. A., Valle, D. <strong>Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.</strong> Nature Genet. 22: 151-158, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369256</a>] [<a href="https://doi.org/10.1038/9658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369256">Camacho et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369256" 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 fungi Neurospora crassa Arg13 and Saccharomyces cerevisiae Arg11 genes encode mitochondrial carrier family proteins that transport ornithine across the mitochondrial inner membrane. <a href="#2" class="mim-tip-reference" title="Camacho, J. A., Obie, C., Biery, B., Goodman, B. K., Hu, C.-A., Almashanu, S., Steel, G., Casey, R., Lambert, M., Mitchell, G. A., Valle, D. <strong>Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.</strong> Nature Genet. 22: 151-158, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369256</a>] [<a href="https://doi.org/10.1038/9658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369256">Camacho et al. (1999)</a> used these sequences to identify a human expressed sequence tag (EST) corresponding to the orthologous human transporter. The SLC25A15 gene, which they termed ORNT1, encodes a 301-residue protein with 95% identity to mouse Ornt1 and 28% identity to Neurospora Arg13. The protein has 3 repeats of about 100 amino acids and each repeat has 2 predicted transmembrane alpha-helices separated by a hydrophilic segment. Northern blot analysis detected a 4.2-kb mRNA transcript in liver and pancreas, with little expression in all other tissues. In mice, the expressed protein localized to liver mitochondria and varied with changes in dietary protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369256" 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="Camacho, J. A., Obie, C., Biery, B., Goodman, B. K., Hu, C.-A., Almashanu, S., Steel, G., Casey, R., Lambert, M., Mitchell, G. A., Valle, D. <strong>Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.</strong> Nature Genet. 22: 151-158, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369256</a>] [<a href="https://doi.org/10.1038/9658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369256">Camacho et al. (1999)</a> mapped the ORNT1 gene to chromosome 13q13-q14.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369256" 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>Among 11 patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome; <a href="/entry/238970">238970</a>), <a href="#2" class="mim-tip-reference" title="Camacho, J. A., Obie, C., Biery, B., Goodman, B. K., Hu, C.-A., Almashanu, S., Steel, G., Casey, R., Lambert, M., Mitchell, G. A., Valle, D. <strong>Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.</strong> Nature Genet. 22: 151-158, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369256</a>] [<a href="https://doi.org/10.1038/9658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369256">Camacho et al. (1999)</a> identified 2 mutations in the ORNT1 gene (see, e.g., phe188del; <a href="#0001">603861.0001</a> and E180K; <a href="#0002">603861.0002</a>), and a larger deletion. The phe188del accounted for 19 of 20 possible mutant ORNT1 alleles among French Canadian patients, consistent with a founder effect in that population. Expression of either murine or human ORNT1 restored normal ornithine metabolism in patient-derived fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Tsujino, S., Kanazawa, N., Ohashi, T., Eto, Y., Saito, T., Kira, J., Yamada, T. <strong>Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.</strong> Ann. Neurol. 47: 625-631, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10805333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10805333</a>]" pmid="10805333">Tsujino et al. (2000)</a> reported 3 novel mutations in the SLC25A15 gene in Japanese patients with the HHH syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10805333" 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="#4" class="mim-tip-reference" title="Miyamoto, T., Kanazawa, N., Kato, S., Kawakami, M., Inoue, Y., Kuhara, T., Inoue, T., Takeshita, K., Tsujino, S. <strong>Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.</strong> J. Hum. Genet. 46: 260-262, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11355015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11355015</a>] [<a href="https://doi.org/10.1007/s100380170075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11355015">Miyamoto et al. (2001)</a> reported 2 unrelated Japanese patients who were both homozygous for a nonsense mutation in the SLC25A15 gene (R179X; <a href="#0003">603861.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11355015" 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 8 Italian patients with HHH syndrome, <a href="#6" class="mim-tip-reference" title="Salvi, S., Santorelli, F. M., Bertini, E., Boldrini, R., Meli, C., Donati, A., Burlina, A. B., Rizzo, C., Di Capua, M., Fariello, G., Dionisi-Vici, C. <strong>Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.</strong> Neurology 57: 911-914, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11552031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11552031</a>] [<a href="https://doi.org/10.1212/wnl.57.5.911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11552031">Salvi et al. (2001)</a> identified 9 different mutations in the SLC25A15 gene, 7 of which were novel (see, e.g., <a href="#0004">603861.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11552031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Debray, F.-G., Lambert, M., Lemieux, B., Soucy, J. F., Drouin, R., Fenyves, D., Dube, J., Maranda, B., Laframboise, R., Mitchell, G. A. <strong>Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.</strong> J. Med. Genet. 45: 759-764, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18978333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18978333</a>] [<a href="https://doi.org/10.1136/jmg.2008.059097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18978333">Debray et al. (2008)</a> noted that 22 different mutations of the SLC25A15 gene had been described in 49 patients from 31 unrelated families with HHH syndrome to date. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18978333" 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 16 patients from 13 unrelated families with HHH syndrome, <a href="#7" class="mim-tip-reference" title="Tessa, A., Fiermonte, G., Dionisi-Vici, C., Paradies, E., Baumgartner, M. R., Chien, Y.-H., Loguercio, C., de Baulny, H. O., Nassogne, M.-C., Schiff, M., Deodato, F., Parenti, G., and 12 others. <strong>Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.</strong> Hum. Mutat. 30: 741-748, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19242930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19242930</a>] [<a href="https://doi.org/10.1002/humu.20930" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19242930">Tessa et al. (2009)</a> identified 13 different mutations in the SLC25A15 gene, including 11 novel mutations (see, e.g., <a href="#0003">603861.0003</a>; <a href="#0006">603861.0006</a>-<a href="#0008">603861.0008</a>). In vitro functional expression assays showed mutant proteins with decreased transport activity between 4 and 19% of control values. There were no apparent genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19242930" 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">rs202247803 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs202247803;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=rs202247803" 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=rs202247803" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 9 of 10 French Canadian patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome; <a href="/entry/238970">238970</a>), <a href="#2" class="mim-tip-reference" title="Camacho, J. A., Obie, C., Biery, B., Goodman, B. K., Hu, C.-A., Almashanu, S., Steel, G., Casey, R., Lambert, M., Mitchell, G. A., Valle, D. <strong>Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.</strong> Nature Genet. 22: 151-158, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369256</a>] [<a href="https://doi.org/10.1038/9658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369256">Camacho et al. (1999)</a> identified a homozygous 3-bp in-frame deletion in the SLC25A15 gene, resulting in the deletion of phe188 from a sequence of 4 consecutive TTC phenylalanine codons (bp 553-564). in the predicted fourth transmembrane domain. The deletion resulted in an unstable protein. The tenth patient was compound heterozygous for this deletion and a second undetermined allele that has an undetectable transcript. In vitro functional expression studies showed that the F188del mutation resulted in loss of transporter function. The F188del mutant transporter did not target the mitochondria and was not detected in the cytosol, suggesting that this 1-codon deletion impairs stability and/or targeting of the transporter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369256" 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> rs104894424 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894424;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/rs104894424?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=rs104894424" 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=rs104894424" 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=RCV000006359 OR RCV000514789" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006359, RCV000514789" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006359...</a>
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<p>In a non-French Canadian patient with HHH (<a href="/entry/238970">238970</a>), <a href="#2" class="mim-tip-reference" title="Camacho, J. A., Obie, C., Biery, B., Goodman, B. K., Hu, C.-A., Almashanu, S., Steel, G., Casey, R., Lambert, M., Mitchell, G. A., Valle, D. <strong>Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.</strong> Nature Genet. 22: 151-158, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369256</a>] [<a href="https://doi.org/10.1038/9658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369256">Camacho et al. (1999)</a> identified apparent homozygosity for a 538G-A transition in the SLC25A15 gene, resulting in a glu180-to-lys (E180K) substitution in the predicted fourth transmembrane domain. The patient's Irish American father was an E180K heterozygote, but his Japanese mother was not. These observations, together with the different origins of the 2 parents, indicated that the patient represented a genetic compound for E180K and a second mutant ORNT1 allele that failed to amplify. Further studies suggested that the second allele in this patient carried a microdeletion involving ORNT1 inherited from the mother. The mutant E180K transporter targeted to the mitochondria, but was inactive, indicating that this substitution impairs activity without affecting targeting or stability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369256" 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 HHH SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs104894429 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894429;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/rs104894429?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=rs104894429" 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=rs104894429" 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=RCV000006360 OR RCV003415665" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006360, RCV003415665" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006360...</a>
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<p>In 2 unrelated Japanese patients with HHH syndrome (<a href="/entry/238970">238970</a>), <a href="#4" class="mim-tip-reference" title="Miyamoto, T., Kanazawa, N., Kato, S., Kawakami, M., Inoue, Y., Kuhara, T., Inoue, T., Takeshita, K., Tsujino, S. <strong>Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.</strong> J. Hum. Genet. 46: 260-262, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11355015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11355015</a>] [<a href="https://doi.org/10.1007/s100380170075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11355015">Miyamoto et al. (2001)</a> identified a homozygous mutation in the SLC25A15 gene, resulting in an arg179-to-ter (R179X) substitution. One of the patients had been reported by <a href="#5" class="mim-tip-reference" title="Nakajima, M., Ishii, S., Mito, T., Takeshita, K., Takashima, S., Takakura, H., Inoue, I., Saheki, T., Akiyoshi, H., Ichihara, K. <strong>Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.</strong> Brain Dev. 10: 181-185, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3407856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3407856</a>] [<a href="https://doi.org/10.1016/s0387-7604(88)80025-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3407856">Nakajima et al. (1988)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3407856+11355015" 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="Tessa, A., Fiermonte, G., Dionisi-Vici, C., Paradies, E., Baumgartner, M. R., Chien, Y.-H., Loguercio, C., de Baulny, H. O., Nassogne, M.-C., Schiff, M., Deodato, F., Parenti, G., and 12 others. <strong>Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.</strong> Hum. Mutat. 30: 741-748, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19242930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19242930</a>] [<a href="https://doi.org/10.1002/humu.20930" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19242930">Tessa et al. (2009)</a> identified homozygosity for the R179X mutation in affected members of 2 unrelated families with HHH syndrome from Senegal and Morocco, respectively. Both children from Senegal had neonatal onset of lethargy and coma. One had pyramidal signs and mild mental retardation, whereas the other had a more severe phenotype with seizures, pyramidal signs, mental retardation, and coagulopathy. In the Moroccan family, 1 child had onset in infancy of lethargy and coma, and later had liver involvement and coagulopathy, but the other child, who was homozygous for the R179X mutation, had no symptoms by age 4 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19242930" 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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SLC25A15, GLY27ARG
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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> rs104894430 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894430;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/rs104894430?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=rs104894430" 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=rs104894430" 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=RCV000006361" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006361" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006361</a>
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<p>In a 17-year-old girl with HHH syndrome (<a href="/entry/238970">238970</a>) since infancy, <a href="#6" class="mim-tip-reference" title="Salvi, S., Santorelli, F. M., Bertini, E., Boldrini, R., Meli, C., Donati, A., Burlina, A. B., Rizzo, C., Di Capua, M., Fariello, G., Dionisi-Vici, C. <strong>Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.</strong> Neurology 57: 911-914, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11552031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11552031</a>] [<a href="https://doi.org/10.1212/wnl.57.5.911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11552031">Salvi et al. (2001)</a> identified a homozygous mutation in the SLC25A15 gene, resulting in a gly27-to-arg (G27R) substitution. The girl was not mentally retarded and did not have spastic paraparesis, but did show pyramidal signs on neurologic examination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11552031" 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 HHH SYNDROME</strong>
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SLC25A15, ARG275GLN
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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> rs104894431 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894431;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/rs104894431?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=rs104894431" 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=rs104894431" 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=RCV000006362" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006362" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006362</a>
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<p>In a 17-year-old girl with HHH syndrome (<a href="/entry/238970">238970</a>) since the age of 3 years, <a href="#6" class="mim-tip-reference" title="Salvi, S., Santorelli, F. M., Bertini, E., Boldrini, R., Meli, C., Donati, A., Burlina, A. B., Rizzo, C., Di Capua, M., Fariello, G., Dionisi-Vici, C. <strong>Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.</strong> Neurology 57: 911-914, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11552031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11552031</a>] [<a href="https://doi.org/10.1212/wnl.57.5.911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11552031">Salvi et al. (2001)</a> identified a homozygous mutation in the SLC25A15 gene, resulting in an arg275-to-gln (R275Q) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11552031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 HHH SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908533 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908533;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/rs121908533?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=rs121908533" 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=rs121908533" 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=RCV000006363" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006363" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006363</a>
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<p>In a 6-year-old Belgian boy with HHH syndrome (<a href="/entry/238970">238970</a>) since infancy, <a href="#7" class="mim-tip-reference" title="Tessa, A., Fiermonte, G., Dionisi-Vici, C., Paradies, E., Baumgartner, M. R., Chien, Y.-H., Loguercio, C., de Baulny, H. O., Nassogne, M.-C., Schiff, M., Deodato, F., Parenti, G., and 12 others. <strong>Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.</strong> Hum. Mutat. 30: 741-748, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19242930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19242930</a>] [<a href="https://doi.org/10.1002/humu.20930" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19242930">Tessa et al. (2009)</a> identified a homozygous 110T-G transversion in exon 3 of the SLC25A15 gene, resulting in a met37-to-arg (M37R) substitution in a transmembrane alpha-helix. The substitution was predicted to interfere with salt bridge formation or protein structure. In vitro functional expression studies showed that the mutant protein had no transport activity. The child had hepatic dysfunction, a coagulopathy, and mild mental retardation, but no other neurologic signs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19242930" 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">rs121908534 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908534;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=rs121908534" 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=rs121908534" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an Italian infant with HHH syndrome (<a href="/entry/238970">238970</a>), <a href="#7" class="mim-tip-reference" title="Tessa, A., Fiermonte, G., Dionisi-Vici, C., Paradies, E., Baumgartner, M. R., Chien, Y.-H., Loguercio, C., de Baulny, H. O., Nassogne, M.-C., Schiff, M., Deodato, F., Parenti, G., and 12 others. <strong>Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.</strong> Hum. Mutat. 30: 741-748, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19242930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19242930</a>] [<a href="https://doi.org/10.1002/humu.20930" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19242930">Tessa et al. (2009)</a> identified a homozygous 212T-A transversion in exon 3 of the SLC25A15 gene, resulting in a leu71-to-gln (L71Q) substitution in a transmembrane alpha-helix. The affected residue was predicted to be oriented toward the membrane lipids, which may disturb helix packaging. In vitro functional expression studies showed that the mutant protein had less than 20% residual transport activity. The patient presented in infancy with lethargy and coma, and died at age 2 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19242930" 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> rs121908535 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908535;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/rs121908535?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=rs121908535" 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=rs121908535" 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=RCV000006365" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006365" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006365</a>
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<p>In a 2-year-old Taiwanese child with HHH syndrome (<a href="/entry/238970">238970</a>) since infancy, <a href="#7" class="mim-tip-reference" title="Tessa, A., Fiermonte, G., Dionisi-Vici, C., Paradies, E., Baumgartner, M. R., Chien, Y.-H., Loguercio, C., de Baulny, H. O., Nassogne, M.-C., Schiff, M., Deodato, F., Parenti, G., and 12 others. <strong>Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.</strong> Hum. Mutat. 30: 741-748, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19242930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19242930</a>] [<a href="https://doi.org/10.1002/humu.20930" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19242930">Tessa et al. (2009)</a> identified a homozygous 815C-T transition in exon 7 of the SLC25A15 gene, resulting in a thr272-to-ile (T272I) substitution in a transmembrane alpha-helix. The substitution was predicted to interfere with the formation of crucial bonds due to steric hindrance. In vitro functional expression studies showed that the mutant protein had less than 20% residual transport activity. The patient presented in infancy with lethargy, coma, liver dysfunction, and coagulopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19242930" 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> rs121908536 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908536;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/rs121908536?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=rs121908536" 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=rs121908536" 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=RCV000006366" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006366" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006366</a>
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<p>In 5 affected members of 2 related families of Mexican descent with HHH syndrome (<a href="/entry/238970">238970</a>), <a href="#1" class="mim-tip-reference" title="Camacho, J. A., Mardach, R., Rioseco-Camacho, N., Ruiz-Pesini, E., Derbeneva, O., Andrade, D., Zaldivar, F., Qu, Y., Cederbaum, S. D. <strong>Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.</strong> Pediat. Res. 60: 423-429, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16940241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16940241</a>] [<a href="https://doi.org/10.1203/01.pdr.0000238301.25938.f5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16940241">Camacho et al. (2006)</a> identified a homozygous C-to-G transversion in exon 3 of the SLC25A15 gene, resulting in a thr32-to-arg (T32R) substitution in a conserved residue in the first hydrophilic loop facing the mitochondrial matrix. The mutation was not found in 116 control individuals. Overexpression studies showed that the mutant protein targeted normally to the mitochondrial and retained some residual activity. However, basal ornithine transport of primary untransfected patient fibroblasts showed loss of function; the observations were important, since they showed a discordance between the clinical and cellular phenotype in patients with HHH syndrome. The patients showed phenotypic variability, with 1 patient in particular having neurologic involvement, including poor school performance, low IQ (55), dysarthria, hyperreflexia, and cortical atrophy on MRI. This patient died from complications of hyperammonemic encephalopathy. The other patients had mild learning disabilities but no neurologic deficits. Two patients with the mildest defects were found to be carriers for a gain of function val181-to-gly (V181G) polymorphism in the ORNT2 gene (SLC25A2; <a href="/entry/608157">608157</a>), whereas the members of the family who had the patient with the more severe phenotype had the wildtype val181 ORNT2 variant. The mitochondrial haplotypes of the 2 families also differed. <a href="#1" class="mim-tip-reference" title="Camacho, J. A., Mardach, R., Rioseco-Camacho, N., Ruiz-Pesini, E., Derbeneva, O., Andrade, D., Zaldivar, F., Qu, Y., Cederbaum, S. D. <strong>Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.</strong> Pediat. Res. 60: 423-429, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16940241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16940241</a>] [<a href="https://doi.org/10.1203/01.pdr.0000238301.25938.f5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16940241">Camacho et al. (2006)</a> suggested that the genotype of HHH patients cannot predict the clinical course of the disease, and that other modifying factors, such as gene redundancy or mitochondrial background may further influence the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16940241" 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>Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.</strong>
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Pediat. Res. 60: 423-429, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16940241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16940241</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16940241" 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/10.1203/01.pdr.0000238301.25938.f5" target="_blank">Full Text</a>]
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Camacho, J. A., Obie, C., Biery, B., Goodman, B. K., Hu, C.-A., Almashanu, S., Steel, G., Casey, R., Lambert, M., Mitchell, G. A., Valle, D.
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<strong>Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.</strong>
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Nature Genet. 22: 151-158, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369256</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/9658" target="_blank">Full Text</a>]
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Debray, F.-G., Lambert, M., Lemieux, B., Soucy, J. F., Drouin, R., Fenyves, D., Dube, J., Maranda, B., Laframboise, R., Mitchell, G. A.
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<strong>Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.</strong>
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J. Med. Genet. 45: 759-764, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18978333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18978333</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18978333" 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/10.1136/jmg.2008.059097" target="_blank">Full Text</a>]
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Miyamoto, T., Kanazawa, N., Kato, S., Kawakami, M., Inoue, Y., Kuhara, T., Inoue, T., Takeshita, K., Tsujino, S.
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<strong>Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.</strong>
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J. Hum. Genet. 46: 260-262, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11355015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11355015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11355015" 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/s100380170075" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Nakajima1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nakajima, M., Ishii, S., Mito, T., Takeshita, K., Takashima, S., Takakura, H., Inoue, I., Saheki, T., Akiyoshi, H., Ichihara, K.
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|
<strong>Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.</strong>
|
|
Brain Dev. 10: 181-185, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3407856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3407856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3407856" 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/s0387-7604(88)80025-1" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Salvi2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Salvi, S., Santorelli, F. M., Bertini, E., Boldrini, R., Meli, C., Donati, A., Burlina, A. B., Rizzo, C., Di Capua, M., Fariello, G., Dionisi-Vici, C.
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|
<strong>Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.</strong>
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Neurology 57: 911-914, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11552031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11552031</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11552031" 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/10.1212/wnl.57.5.911" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Tessa2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tessa, A., Fiermonte, G., Dionisi-Vici, C., Paradies, E., Baumgartner, M. R., Chien, Y.-H., Loguercio, C., de Baulny, H. O., Nassogne, M.-C., Schiff, M., Deodato, F., Parenti, G., and 12 others.
|
|
<strong>Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.</strong>
|
|
Hum. Mutat. 30: 741-748, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19242930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19242930</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19242930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20930" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Tsujino2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tsujino, S., Kanazawa, N., Ohashi, T., Eto, Y., Saito, T., Kira, J., Yamada, T.
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<strong>Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.</strong>
|
|
Ann. Neurol. 47: 625-631, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10805333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10805333</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10805333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/19/2009
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/18/2009<br>Cassandra L. Kniffin - updated : 12/18/2008<br>Cassandra L. Kniffin - updated : 7/10/2003<br>Victor A. McKusick - updated : 6/22/2001
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/1/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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wwang : 11/12/2009
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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ckniffin : 10/19/2009<br>wwang : 9/4/2009<br>ckniffin : 8/18/2009<br>wwang : 2/5/2009<br>ckniffin : 12/18/2008<br>cwells : 11/12/2003<br>carol : 7/14/2003<br>ckniffin : 7/10/2003<br>mcapotos : 1/2/2002<br>carol : 6/22/2001<br>terry : 6/22/2001<br>psherman : 7/29/1999<br>psherman : 7/21/1999<br>carol : 7/16/1999<br>carol : 7/15/1999<br>alopez : 6/2/1999<br>alopez : 6/1/1999
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603861
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER), MEMBER 15; SLC25A15
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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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<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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ORNITHINE TRANSPORTER, MITOCHONDRIAL, 1; ORNT1
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SLC25A15</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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 30287008;
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<strong>ICD10CM:</strong> E72.4;
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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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<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: 13q14.11
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Genomic coordinates <span class="small">(GRCh38)</span> : 13:40,789,611-40,812,460 </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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13q14.11
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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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|
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
238970
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
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">
|
|
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>The SLC25A15 gene encodes the mitochondrial ornithine transporter, which transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. This is a vital step in the urea cycle, which serves to eliminate toxic ammonium ions from the breakdown of nitrogen (summary by Camacho et al., 1999). </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 fungi Neurospora crassa Arg13 and Saccharomyces cerevisiae Arg11 genes encode mitochondrial carrier family proteins that transport ornithine across the mitochondrial inner membrane. Camacho et al. (1999) used these sequences to identify a human expressed sequence tag (EST) corresponding to the orthologous human transporter. The SLC25A15 gene, which they termed ORNT1, encodes a 301-residue protein with 95% identity to mouse Ornt1 and 28% identity to Neurospora Arg13. The protein has 3 repeats of about 100 amino acids and each repeat has 2 predicted transmembrane alpha-helices separated by a hydrophilic segment. Northern blot analysis detected a 4.2-kb mRNA transcript in liver and pancreas, with little expression in all other tissues. In mice, the expressed protein localized to liver mitochondria and varied with changes in dietary protein. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>Camacho et al. (1999) mapped the ORNT1 gene to chromosome 13q13-q14.1. </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>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Among 11 patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome; 238970), Camacho et al. (1999) identified 2 mutations in the ORNT1 gene (see, e.g., phe188del; 603861.0001 and E180K; 603861.0002), and a larger deletion. The phe188del accounted for 19 of 20 possible mutant ORNT1 alleles among French Canadian patients, consistent with a founder effect in that population. Expression of either murine or human ORNT1 restored normal ornithine metabolism in patient-derived fibroblasts. </p><p>Tsujino et al. (2000) reported 3 novel mutations in the SLC25A15 gene in Japanese patients with the HHH syndrome. </p><p>Miyamoto et al. (2001) reported 2 unrelated Japanese patients who were both homozygous for a nonsense mutation in the SLC25A15 gene (R179X; 603861.0003). </p><p>In 8 Italian patients with HHH syndrome, Salvi et al. (2001) identified 9 different mutations in the SLC25A15 gene, 7 of which were novel (see, e.g., 603861.0004). </p><p>Debray et al. (2008) noted that 22 different mutations of the SLC25A15 gene had been described in 49 patients from 31 unrelated families with HHH syndrome to date. </p><p>In 16 patients from 13 unrelated families with HHH syndrome, Tessa et al. (2009) identified 13 different mutations in the SLC25A15 gene, including 11 novel mutations (see, e.g., 603861.0003; 603861.0006-603861.0008). In vitro functional expression assays showed mutant proteins with decreased transport activity between 4 and 19% of control values. There were no apparent genotype/phenotype correlations. </p>
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|
</span>
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<div>
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<br />
|
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
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<strong>9 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 HHH SYNDROME</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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SLC25A15, 3-BP DEL, PHE188
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<br />
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|
SNP: rs202247803,
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|
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ClinVar: RCV000006358, RCV002460886, RCV003421907
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 9 of 10 French Canadian patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome; 238970), Camacho et al. (1999) identified a homozygous 3-bp in-frame deletion in the SLC25A15 gene, resulting in the deletion of phe188 from a sequence of 4 consecutive TTC phenylalanine codons (bp 553-564). in the predicted fourth transmembrane domain. The deletion resulted in an unstable protein. The tenth patient was compound heterozygous for this deletion and a second undetermined allele that has an undetectable transcript. In vitro functional expression studies showed that the F188del mutation resulted in loss of transporter function. The F188del mutant transporter did not target the mitochondria and was not detected in the cytosol, suggesting that this 1-codon deletion impairs stability and/or targeting of the transporter. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>.0002 HHH SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC25A15, GLU180LYS
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<br />
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SNP: rs104894424,
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gnomAD: rs104894424,
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ClinVar: RCV000006359, RCV000514789
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a non-French Canadian patient with HHH (238970), Camacho et al. (1999) identified apparent homozygosity for a 538G-A transition in the SLC25A15 gene, resulting in a glu180-to-lys (E180K) substitution in the predicted fourth transmembrane domain. The patient's Irish American father was an E180K heterozygote, but his Japanese mother was not. These observations, together with the different origins of the 2 parents, indicated that the patient represented a genetic compound for E180K and a second mutant ORNT1 allele that failed to amplify. Further studies suggested that the second allele in this patient carried a microdeletion involving ORNT1 inherited from the mother. The mutant E180K transporter targeted to the mitochondria, but was inactive, indicating that this substitution impairs activity without affecting targeting or stability. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 HHH SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC25A15, ARG179TER
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<br />
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SNP: rs104894429,
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gnomAD: rs104894429,
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ClinVar: RCV000006360, RCV003415665
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 unrelated Japanese patients with HHH syndrome (238970), Miyamoto et al. (2001) identified a homozygous mutation in the SLC25A15 gene, resulting in an arg179-to-ter (R179X) substitution. One of the patients had been reported by Nakajima et al. (1988). </p><p>Tessa et al. (2009) identified homozygosity for the R179X mutation in affected members of 2 unrelated families with HHH syndrome from Senegal and Morocco, respectively. Both children from Senegal had neonatal onset of lethargy and coma. One had pyramidal signs and mild mental retardation, whereas the other had a more severe phenotype with seizures, pyramidal signs, mental retardation, and coagulopathy. In the Moroccan family, 1 child had onset in infancy of lethargy and coma, and later had liver involvement and coagulopathy, but the other child, who was homozygous for the R179X mutation, had no symptoms by age 4 years. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0004 HHH SYNDROME</strong>
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|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC25A15, GLY27ARG
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<br />
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SNP: rs104894430,
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gnomAD: rs104894430,
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ClinVar: RCV000006361
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 17-year-old girl with HHH syndrome (238970) since infancy, Salvi et al. (2001) identified a homozygous mutation in the SLC25A15 gene, resulting in a gly27-to-arg (G27R) substitution. The girl was not mentally retarded and did not have spastic paraparesis, but did show pyramidal signs on neurologic examination. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0005 HHH SYNDROME</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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SLC25A15, ARG275GLN
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<br />
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SNP: rs104894431,
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gnomAD: rs104894431,
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ClinVar: RCV000006362
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|
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 17-year-old girl with HHH syndrome (238970) since the age of 3 years, Salvi et al. (2001) identified a homozygous mutation in the SLC25A15 gene, resulting in an arg275-to-gln (R275Q) substitution. </p>
|
|
</span>
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|
</div>
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<div>
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|
<br />
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|
</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 HHH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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SLC25A15, MET37ARG
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<br />
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|
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SNP: rs121908533,
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|
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gnomAD: rs121908533,
|
|
|
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|
|
ClinVar: RCV000006363
|
|
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|
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 6-year-old Belgian boy with HHH syndrome (238970) since infancy, Tessa et al. (2009) identified a homozygous 110T-G transversion in exon 3 of the SLC25A15 gene, resulting in a met37-to-arg (M37R) substitution in a transmembrane alpha-helix. The substitution was predicted to interfere with salt bridge formation or protein structure. In vitro functional expression studies showed that the mutant protein had no transport activity. The child had hepatic dysfunction, a coagulopathy, and mild mental retardation, but no other neurologic signs. </p>
|
|
</span>
|
|
</div>
|
|
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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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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HHH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC25A15, LEU71GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908534,
|
|
|
|
|
|
|
|
ClinVar: RCV000006364
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian infant with HHH syndrome (238970), Tessa et al. (2009) identified a homozygous 212T-A transversion in exon 3 of the SLC25A15 gene, resulting in a leu71-to-gln (L71Q) substitution in a transmembrane alpha-helix. The affected residue was predicted to be oriented toward the membrane lipids, which may disturb helix packaging. In vitro functional expression studies showed that the mutant protein had less than 20% residual transport activity. The patient presented in infancy with lethargy and coma, and died at age 2 months. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 HHH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC25A15, THR272ILE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908535,
|
|
|
|
|
|
gnomAD: rs121908535,
|
|
|
|
|
|
ClinVar: RCV000006365
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 2-year-old Taiwanese child with HHH syndrome (238970) since infancy, Tessa et al. (2009) identified a homozygous 815C-T transition in exon 7 of the SLC25A15 gene, resulting in a thr272-to-ile (T272I) substitution in a transmembrane alpha-helix. The substitution was predicted to interfere with the formation of crucial bonds due to steric hindrance. In vitro functional expression studies showed that the mutant protein had less than 20% residual transport activity. The patient presented in infancy with lethargy, coma, liver dysfunction, and coagulopathy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 HHH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC25A15, THR32ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908536,
|
|
|
|
|
|
gnomAD: rs121908536,
|
|
|
|
|
|
ClinVar: RCV000006366
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 affected members of 2 related families of Mexican descent with HHH syndrome (238970), Camacho et al. (2006) identified a homozygous C-to-G transversion in exon 3 of the SLC25A15 gene, resulting in a thr32-to-arg (T32R) substitution in a conserved residue in the first hydrophilic loop facing the mitochondrial matrix. The mutation was not found in 116 control individuals. Overexpression studies showed that the mutant protein targeted normally to the mitochondrial and retained some residual activity. However, basal ornithine transport of primary untransfected patient fibroblasts showed loss of function; the observations were important, since they showed a discordance between the clinical and cellular phenotype in patients with HHH syndrome. The patients showed phenotypic variability, with 1 patient in particular having neurologic involvement, including poor school performance, low IQ (55), dysarthria, hyperreflexia, and cortical atrophy on MRI. This patient died from complications of hyperammonemic encephalopathy. The other patients had mild learning disabilities but no neurologic deficits. Two patients with the mildest defects were found to be carriers for a gain of function val181-to-gly (V181G) polymorphism in the ORNT2 gene (SLC25A2; 608157), whereas the members of the family who had the patient with the more severe phenotype had the wildtype val181 ORNT2 variant. The mitochondrial haplotypes of the 2 families also differed. Camacho et al. (2006) suggested that the genotype of HHH patients cannot predict the clinical course of the disease, and that other modifying factors, such as gene redundancy or mitochondrial background may further influence the phenotype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
</div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Camacho, J. A., Mardach, R., Rioseco-Camacho, N., Ruiz-Pesini, E., Derbeneva, O., Andrade, D., Zaldivar, F., Qu, Y., Cederbaum, S. D.
|
|
<strong>Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.</strong>
|
|
Pediat. Res. 60: 423-429, 2006.
|
|
|
|
|
|
[PubMed: 16940241]
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|
[Full Text: https://doi.org/10.1203/01.pdr.0000238301.25938.f5]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Camacho, J. A., Obie, C., Biery, B., Goodman, B. K., Hu, C.-A., Almashanu, S., Steel, G., Casey, R., Lambert, M., Mitchell, G. A., Valle, D.
|
|
<strong>Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.</strong>
|
|
Nature Genet. 22: 151-158, 1999.
|
|
|
|
|
|
[PubMed: 10369256]
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|
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|
|
[Full Text: https://doi.org/10.1038/9658]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Debray, F.-G., Lambert, M., Lemieux, B., Soucy, J. F., Drouin, R., Fenyves, D., Dube, J., Maranda, B., Laframboise, R., Mitchell, G. A.
|
|
<strong>Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.</strong>
|
|
J. Med. Genet. 45: 759-764, 2008.
|
|
|
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|
|
[PubMed: 18978333]
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|
|
[Full Text: https://doi.org/10.1136/jmg.2008.059097]
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Miyamoto, T., Kanazawa, N., Kato, S., Kawakami, M., Inoue, Y., Kuhara, T., Inoue, T., Takeshita, K., Tsujino, S.
|
|
<strong>Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.</strong>
|
|
J. Hum. Genet. 46: 260-262, 2001.
|
|
|
|
|
|
[PubMed: 11355015]
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|
|
[Full Text: https://doi.org/10.1007/s100380170075]
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</p>
|
|
</li>
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Nakajima, M., Ishii, S., Mito, T., Takeshita, K., Takashima, S., Takakura, H., Inoue, I., Saheki, T., Akiyoshi, H., Ichihara, K.
|
|
<strong>Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.</strong>
|
|
Brain Dev. 10: 181-185, 1988.
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|
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|
|
|
[PubMed: 3407856]
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|
|
[Full Text: https://doi.org/10.1016/s0387-7604(88)80025-1]
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</p>
|
|
</li>
|
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Salvi, S., Santorelli, F. M., Bertini, E., Boldrini, R., Meli, C., Donati, A., Burlina, A. B., Rizzo, C., Di Capua, M., Fariello, G., Dionisi-Vici, C.
|
|
<strong>Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.</strong>
|
|
Neurology 57: 911-914, 2001.
|
|
|
|
|
|
[PubMed: 11552031]
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|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.57.5.911]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Tessa, A., Fiermonte, G., Dionisi-Vici, C., Paradies, E., Baumgartner, M. R., Chien, Y.-H., Loguercio, C., de Baulny, H. O., Nassogne, M.-C., Schiff, M., Deodato, F., Parenti, G., and 12 others.
|
|
<strong>Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.</strong>
|
|
Hum. Mutat. 30: 741-748, 2009.
|
|
|
|
|
|
[PubMed: 19242930]
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|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.20930]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tsujino, S., Kanazawa, N., Ohashi, T., Eto, Y., Saito, T., Kira, J., Yamada, T.
|
|
<strong>Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.</strong>
|
|
Ann. Neurol. 47: 625-631, 2000.
|
|
|
|
|
|
[PubMed: 10805333]
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
</div>
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</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Cassandra L. Kniffin - updated : 10/19/2009<br>Cassandra L. Kniffin - updated : 8/18/2009<br>Cassandra L. Kniffin - updated : 12/18/2008<br>Cassandra L. Kniffin - updated : 7/10/2003<br>Victor A. McKusick - updated : 6/22/2001
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Victor A. McKusick : 6/1/1999
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wwang : 11/12/2009<br>ckniffin : 10/19/2009<br>wwang : 9/4/2009<br>ckniffin : 8/18/2009<br>wwang : 2/5/2009<br>ckniffin : 12/18/2008<br>cwells : 11/12/2003<br>carol : 7/14/2003<br>ckniffin : 7/10/2003<br>mcapotos : 1/2/2002<br>carol : 6/22/2001<br>terry : 6/22/2001<br>psherman : 7/29/1999<br>psherman : 7/21/1999<br>carol : 7/16/1999<br>carol : 7/15/1999<br>alopez : 6/2/1999<br>alopez : 6/1/1999
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