3801 lines
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Entry
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- *613698 - SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER 20; SLC25A20
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- OMIM
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<p>
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<span class="h4">*613698</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<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="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613698">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000178537;t=ENST00000319017" 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=788" 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=613698" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000178537;t=ENST00000319017" 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_000387" 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_000387" 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=613698" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/SLC25A20" 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/2765075,3914023,4557403,5851675,12804553,119585333,189066551,194377688" 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/O43772" 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=788" 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=ENSG00000178537;t=ENST00000319017" 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=SLC25A20" 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=SLC25A20" 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+788" 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/SLC25A20" 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:788" 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/788" 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=chr3&hgg_gene=ENST00000319017.5&hgg_start=48856926&hgg_end=48898882&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:1421" 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/slc25a20" 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=613698[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=613698[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000178537" 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=SLC25A20" 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=SLC25A20" 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=SLC25A20" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SLC25A20&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/PA35031" 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:1421" 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/FBgn0019830.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:1928738" 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/SLC25A20#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:1928738" 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/788/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=788" 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=WBGene00000996;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-040426-1869" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:788" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=SLC25A20&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> 238003000<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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613698
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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 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER 20; SLC25A20
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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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CARNITINE-ACYLCARNITINE TRANSLOCASE; CACT<br />
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CARNITINE-ACYLCARNITINE CARRIER; CAC
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SLC25A20" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC25A20</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/3/292?start=-3&limit=10&highlight=292">3p21.31</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:48856926-48898882&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'})">3:48,856,926-48,898,882</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
<a href="/geneMap/3/292?start=-3&limit=10&highlight=292">
|
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3p21.31
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Carnitine-acylcarnitine translocase deficiency
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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|
|
<a href="/entry/212138"> 212138 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<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>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/613698" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613698" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
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<p>The SLC25A20 gene encodes carnitine-acylcarnitine translocase (CACT), one of the components of the carnitine cycle. The carnitine cycle is necessary to shuttle long-chain fatty acids from the cytosol into the intramitochondrial space where mitochondrial beta-oxidation of fatty acids takes place (summary by <a href="#11" class="mim-tip-reference" title="Rubio-Gozalbo, M. E., Bakker, J. A., Waterham, H. R., Wanders, R. J. <strong>Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.</strong> Molec. Aspects Med. 25: 521-532, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15363639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15363639</a>] [<a href="https://doi.org/10.1016/j.mam.2004.06.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15363639">Rubio-Gozalbo et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15363639" 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="#4" class="mim-tip-reference" title="Huizing, M., Iacobazzi, V., IJlst, L., Savelkoul, P., Ruitenbeek, W., van den Heuvel, L., Indiveri, C., Smeitink, J., Trijbels, F, Wanders, R., Palmieri, F. <strong>Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.</strong> Am. J. Hum. Genet. 61: 1239-1245, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399886</a>] [<a href="https://doi.org/10.1086/301628" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9399886">Huizing et al. (1997)</a> cloned and sequenced the human CACT cDNA, which has an open reading frame of 903 bp. They symbolized the gene CAC, for carnitine-acylcarnitine carrier. Northern blot studies showed different expression levels of the gene in various human tissues. <a href="#5" class="mim-tip-reference" title="Huizing, M., Ruitenbeek, W., van den Heuvel, L. P., Dolce, V., Iacobazzi, V., Smeitink, J. A. M., Palmieri, F., Trijbels, J. M. F. <strong>Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders.</strong> J. Bioenerg. Biomembr. 30: 277-284, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9733094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9733094</a>] [<a href="https://doi.org/10.1023/a:1020501021222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9733094">Huizing et al. (1998)</a> studied the human tissue distribution of mitochondrial transmembrane metabolite carriers by Northern and Western blot analyses. They found a high level of CACT mRNA transcripts in heart, skeletal muscle, and liver, and much lower levels in brain, placenta, kidney, pancreas, and especially in lung. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9733094+9399886" 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="Iacobazzi, V., Naglieri, M. A., Stanley, C. A., Wanders, R. J. A., Palmieri, F. <strong>The structure and organization of the human carnitine/acylcarnitine translocase (CACT) gene.</strong> Biochem. Biophys. Res. Commun. 252: 770-774, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837782</a>] [<a href="https://doi.org/10.1006/bbrc.1998.9738" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9837782">Iacobazzi et al. (1998)</a> determined that the CACT protein contains 6 transmembrane segments and has cytoplasmic N- and C-termini. CACT also has 3 large extracellular loops between transmembrane segments 1 and 2, 3 and 4, and 5 and 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9837782" 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="#8" class="mim-tip-reference" title="Iacobazzi, V., Naglieri, M. A., Stanley, C. A., Wanders, R. J. A., Palmieri, F. <strong>The structure and organization of the human carnitine/acylcarnitine translocase (CACT) gene.</strong> Biochem. Biophys. Res. Commun. 252: 770-774, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837782</a>] [<a href="https://doi.org/10.1006/bbrc.1998.9738" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9837782">Iacobazzi et al. (1998)</a> determined that the SLC25A20 gene contains 9 coding exons and spans 16.5 kb. Exon 1 is GC-rich, and intron 1 contains a long interspersed sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9837782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization, <a href="#15" class="mim-tip-reference" title="Viggiano, L., Iacobazzi, V., Marzella, R., Cassano, C., Rocchi, M., Palmieri, F. <strong>Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization.</strong> Cytogenet. Cell Genet. 79: 62-63, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9533014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9533014</a>] [<a href="https://doi.org/10.1159/000134684" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9533014">Viggiano et al. (1997)</a> mapped the CACT gene to 3p21.31 and its pseudogene, CACTP, to 6p12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9533014" 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="#13" class="mim-tip-reference" title="Tachibana, K., Kobayashi, Y., Tanaka, T., Tagami, M., Sugiyama, A., Katayama, T., Ueda, C., Yamasaki, D., Ishimoto, K., Sumitomo, M., Uchiyama, Y., Kohro, T., Sakai, J., Hamakubo, T., Kodama, T., Doi, T. <strong>Gene expression profiling of potential peroxisome proliferator-activated receptor (PPAR) target genes in human hepatoblastoma cell lines inducibly expressing different PPAR isoforms.</strong> Nucl. Recept. 3: 3, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16197558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16197558</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16197558[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/1478-1336-3-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16197558">Tachibana et al. (2005)</a> showed that the expression of SLC25A20 was upregulated by PPAR-alpha (PPARA; <a href="/entry/170998">170998</a>), a ligand-activated transcription factor with a central role in the control of lipid metabolism. <a href="#14" class="mim-tip-reference" title="Tachibana, K., Takeuchi, K., Inada, H., Yamasaki, D., Ishimoto, K., Tanaka, T., Hamakubo, T., Sakai, J., Kodama, T., Doi, T. <strong>Regulation of the human SLC25A20 expression by peroxisome proliferator-activated receptor alpha in human hepatoblastoma cells.</strong> Biochem. Biophys. Res. Commun. 389: 501-505, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19748481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19748481</a>] [<a href="https://doi.org/10.1016/j.bbrc.2009.09.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19748481">Tachibana et al. (2009)</a> confirmed that SLC25A20 mRNA and protein was positively upregulated by ligand-activated PPAR-alpha in human hepatoblastoma cell lines. Sequence analysis, reporter gene assays, electrophoretic mobility shift assays, and supershift assays confirmed the functional binding of PPAR-alpha to a peroxisome proliferator responsive element (PPRE) in the promoter region of the SLC25A20 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19748481+16197558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By direct sequencing of CACT (SLC25A20) cDNA from an infant with carnitine-acylcarnitine translocase deficiency (CACTD; <a href="/entry/212138">212138</a>), <a href="#4" class="mim-tip-reference" title="Huizing, M., Iacobazzi, V., IJlst, L., Savelkoul, P., Ruitenbeek, W., van den Heuvel, L., Indiveri, C., Smeitink, J., Trijbels, F, Wanders, R., Palmieri, F. <strong>Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.</strong> Am. J. Hum. Genet. 61: 1239-1245, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399886</a>] [<a href="https://doi.org/10.1086/301628" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9399886">Huizing et al. (1997)</a> identified a homozygous cytosine insertion (<a href="#0001">613698.0001</a>). The insertion caused a frameshift and an extension of the open reading frame with 23 novel codons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9399886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a child with CACT deficiency who was the product of a consanguineous marriage, <a href="#9" class="mim-tip-reference" title="Iacobazzi, V., Pasquali, M., Singh, R., Matern, D., Rinaldo, P., di San Filippo, C. A., Palmieri, F., Longo, N. <strong>Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.</strong> Am. J. Med. Genet. 126A: 150-155, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15057979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15057979</a>] [<a href="https://doi.org/10.1002/ajmg.a.20573" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15057979">Iacobazzi et al. (2004)</a> identified homozygosity for a gln238-to-arg mutation in the SLC25A20 gene (Q238R; <a href="#0007">613698.0007</a>). Both parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15057979" 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="Iacobazzi, V., Invernizzi, F., Baratta, S., Pons, R., Chung, W., Garavaglia, B., Dionisi-Vici, C., Ribes, A., Parini, R., Huertas, M. D., Roldan, S., Lauria, G., Palmieri, F., Taroni, F. <strong>Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.</strong> Hum. Mutat. 24: 312-320, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15365988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15365988</a>] [<a href="https://doi.org/10.1002/humu.20085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15365988">Iacobazzi et al. (2004)</a> found significant clinical heterogeneity among 6 CACT-deficient patients from Italy, Spain, and North America. In 5 patients, the disease manifested in the neonatal period, whereas the remaining patient, the younger sib of an infant who had died with clinical suspicion of fatty acid oxidation defect, had been treated since birth and was clinically asymptomatic at 4.5 years of age. Sequence analysis of the SLC25A20 gene identified 5 novel mutations and 3 previously reported mutations. Combined analysis of clinical, biochemical, and molecular data failed to indicate a correlation between phenotype and genotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15365988" 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 2 unrelated Japanese infants with CACTD, <a href="#3" class="mim-tip-reference" title="Fukushima, T., Kaneoka, H., Yasuno, T., Sasaguri, Y., Tokuyasu, T., Tokoro, K., Fukao, T., Saito, T. <strong>Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.</strong> J. Hum. Genet. 58: 788-793, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24088670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24088670</a>] [<a href="https://doi.org/10.1038/jhg.2013.103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24088670">Fukushima et al. (2013)</a> identified compound heterozygous mutations in the CACT gene (<a href="#0006">613698.0006</a>, <a href="#0008">613698.0008</a>-<a href="#0009">613698.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24088670" 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>.0001 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776759 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776759;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=rs587776759" 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=rs587776759" 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=RCV000012915" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012915" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012915</a>
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<p><a href="#4" class="mim-tip-reference" title="Huizing, M., Iacobazzi, V., IJlst, L., Savelkoul, P., Ruitenbeek, W., van den Heuvel, L., Indiveri, C., Smeitink, J., Trijbels, F, Wanders, R., Palmieri, F. <strong>Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.</strong> Am. J. Hum. Genet. 61: 1239-1245, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399886</a>] [<a href="https://doi.org/10.1086/301628" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9399886">Huizing et al. (1997)</a> identified homozygosity for a 1-bp insertion in the CACT gene in a 9-year-old girl with carnitine-acylcarnitine translocase deficiency (CACTD; <a href="/entry/212138">212138</a>). She had survived a severe neonatal condition consisting of hypoglycemia, cardiac arrest, hepatomegaly, and hepatic dysfunction--all features often observed in patients with a fatty-acid oxidation disorder. Episodes of lethargy and hepatomegaly occurred thereafter during mild viral infections. Later physical and neurophysiologic development was essentially normal. The girl did well with prolonged exercise, and between attacks she was alert, cooperative, and pleasant. Sequencing of the patient's cDNA for CACT showed insertion of a cytosine in a cytosine-rich region. The protein encoded by the CACT gene is 301 amino acids long; the insertion changed the sequence of the CACT protein from amino acid 300 (asparagine to glutamine) to the C terminus and expanded the length of the protein by 21 amino acids, to a total of 322 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9399886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553686314 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553686314;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=rs1553686314" 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=rs1553686314" 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=RCV000012916" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012916" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012916</a>
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<p>In 2 sibs with carnitine-acylcarnitine translocase deficiency (CACTD; <a href="/entry/212138">212138</a>), the offspring of consanguineous Turkish parents, <a href="#6" class="mim-tip-reference" title="Huizing, M., Wendel, U., Ruitenbeek, W., Iacobazzi, V., IJlst, L., Veenhuizen, P., Savelkoul, P., van den Heuvel, L. P., Smeitink, J. A. M., Wanders, R. J. A., Trijbels, J. M. F., Palmieri, F. <strong>Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.</strong> J. Inherit. Metab. Dis. 21: 262-267, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9686371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9686371</a>] [<a href="https://doi.org/10.1023/a:1005324323401" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9686371">Huizing et al. (1998)</a> identified compound heterozygosity for 2 deletions of the CACT gene: deletion of 128 bp (basepairs 261-388) and deletion of 110 bp (basepairs 671-780) (<a href="#0003">613698.0003</a>). In each case a premature stop codon was introduced owing to frameshift. Further studies indicated that no product carrying both deletions was obtained, suggesting that the patient was a compound heterozygote (despite consanguinity of the parents). It was predicted that the number of amino acids, 301 in the wildtype protein, was reduced to 139 in the first deletion and 211 in the second deletion. The patient in this case became somnolent, had bradycardia, and developed generalized skeletal muscle weakness by the third day of life. Hypoglycemia, moderate metabolic acidosis, increased plasma ammonia concentrations, and dicarboxylic aciduria were found. During an attack of cardiac arrhythmias and arrest he was resuscitated and artificial ventilation was started, which was continued until death at the age of 8 weeks. On treatment he developed hypertrophic cardiomyopathy and marked hepatomegaly. At least one other child in this sibship, a girl, was well until the sixth day of life when she developed a course of disease strikingly similar to that of her younger brother, with somnolence, tachyarrhythmias, and cardiorespiratory distress requiring resuscitation. Later she showed mild hyperammonemia, hepatomegaly with abnormal liver functions and seizures, and she died with multiorgan failure at the age of 5 weeks. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9686371" 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 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</strong>
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SLC25A20, 110-BP DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012917" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012917" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012917</a>
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<p>For discussion of the 110-bp deletion (basepairs 671-680) in the SLC25A20 gene that was found in compound heterozygous state in sibs with carnitine-acylcarnitine translocase deficiency (CACTD; <a href="/entry/212138">212138</a>) by <a href="#6" class="mim-tip-reference" title="Huizing, M., Wendel, U., Ruitenbeek, W., Iacobazzi, V., IJlst, L., Veenhuizen, P., Savelkoul, P., van den Heuvel, L. P., Smeitink, J. A. M., Wanders, R. J. A., Trijbels, J. M. F., Palmieri, F. <strong>Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.</strong> J. Inherit. Metab. Dis. 21: 262-267, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9686371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9686371</a>] [<a href="https://doi.org/10.1023/a:1005324323401" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9686371">Huizing et al. (1998)</a>, see <a href="#0002">613698.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9686371" 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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SLC25A20, ARG166TER
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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> rs151340616 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs151340616;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/rs151340616?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=rs151340616" 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=rs151340616" 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=RCV000012918 OR RCV000627246" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012918, RCV000627246" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012918...</a>
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<p>In a patient with severe carnitine-acylcarnitine translocase deficiency (CACTD; <a href="/entry/212138">212138</a>), <a href="#2" class="mim-tip-reference" title="Costa, C., Costa, J. M., Nuoffer, J. M., Slama, A., Boutron, A., Saudubray, J. M., Legrand, A., Brivet, M. <strong>Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency.</strong> J. Inherit. Metab. Dis. 22: 267-270, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10384384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10384384</a>] [<a href="https://doi.org/10.1023/a:1005590223680" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10384384">Costa et al. (1999)</a> found a homozygous 558C-T transition in the CACT cDNA, resulting in a premature stop codon (arg166 to ter). The presence of this C-to-T transition was directly confirmed in genomic DNA of the patient and her parents by analyzing a PCR-amplified product of 211 bp encompassing the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10384384" 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 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</strong>
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SLC25A20, 1-BP DEL, 146T
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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> rs587776760 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776760;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/rs587776760?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=rs587776760" 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=rs587776760" 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=RCV000012919 OR RCV000186166" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012919, RCV000186166" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012919...</a>
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<p>In a patient with carnitine-acylcarnitine translocase deficiency (CACTD; <a href="/entry/212138">212138</a>), <a href="#10" class="mim-tip-reference" title="Ogawa, A., Yamamoto, S., Kanazawa, M., Takayanagi, M., Hasegawa, S., Kohno, Y. <strong>Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency.</strong> J. Hum. Genet. 45: 52-55, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10697964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10697964</a>] [<a href="https://doi.org/10.1007/s100380050010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10697964">Ogawa et al. (2000)</a> identified compound heterozygous mutations in the SLC25A20 gene: a 1-bp deletion (146delT), leading to premature termination and resulting in a very immature CACT protein, and a splicing mutation (<a href="#0006">613698.0006</a>). Fibroblasts were from the patient reported by <a href="#12" class="mim-tip-reference" title="Stanley, C. A., Hale, D. E., Berry, G. T., Deleeuw, S., Boxer, J., Bonnefont, J.-P. <strong>A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.</strong> New Eng. J. Med. 327: 19-23, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598097</a>] [<a href="https://doi.org/10.1056/NEJM199207023270104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1598097">Stanley et al. (1992)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1598097+10697964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<strong>.0006 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</strong>
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SLC25A20, IVS2AS, T-G, -10
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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> rs541208710 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs541208710;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/rs541208710?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=rs541208710" 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=rs541208710" 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=RCV000012920 OR RCV000427395 OR RCV004757104" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012920, RCV000427395, RCV004757104" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012920...</a>
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<p>In a patient with CACT deficiency (CACTD; <a href="/entry/212138">212138</a>), <a href="#10" class="mim-tip-reference" title="Ogawa, A., Yamamoto, S., Kanazawa, M., Takayanagi, M., Hasegawa, S., Kohno, Y. <strong>Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency.</strong> J. Hum. Genet. 45: 52-55, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10697964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10697964</a>] [<a href="https://doi.org/10.1007/s100380050010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10697964">Ogawa et al. (2000)</a> found compound heterozygosity for a splice site mutation, a T-to-G transversion at the nucleotide -10 upstream from the splice acceptor site of intron 2, and a 146delT mutation (<a href="#0005">613698.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10697964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese patient who died of CACT deficiency, <a href="#3" class="mim-tip-reference" title="Fukushima, T., Kaneoka, H., Yasuno, T., Sasaguri, Y., Tokuyasu, T., Tokoro, K., Fukao, T., Saito, T. <strong>Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.</strong> J. Hum. Genet. 58: 788-793, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24088670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24088670</a>] [<a href="https://doi.org/10.1038/jhg.2013.103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24088670">Fukushima et al. (2013)</a> identified compound heterozygous mutations in the SLC25A20 gene: a T-to-G transversion in intron 2 (c.199-10T-G) and W192X (<a href="#0008">613698.0008</a>). Each unaffected parent was heterozygous for 1 of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24088670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</strong>
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SLC25A20, GLN238ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28934589 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28934589;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=rs28934589" 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=rs28934589" 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=RCV000012921 OR RCV000153966" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012921, RCV000153966" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012921...</a>
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<p>In a Saudi patient with virtually complete CACT deficiency (CACTD; <a href="/entry/212138">212138</a>) in fibroblasts, born to first-cousin parents, <a href="#1" class="mim-tip-reference" title="Al Aqeel, A. I., Rashid, M. S., Ruiter, J. P., Ijlst, L., Wanders, R. J. <strong>A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. (Letter)</strong> Clin. Genet. 64: 163-165, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12859414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12859414</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00117.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12859414">Al Aqeel et al. (2003)</a> identified homozygosity for a 712A-G transition in the cDNA of the SLC25A20 gene, resulting in a glu238-to-arg (Q238R) substitution. The patient presented on the second day of life with nystagmus and hyperammonemia. Thickened interventricular septum of the heart was demonstrated. The patient died at 7 months of age as a result of cardiac arrhythmia; 3 sibs had previously died as neonates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12859414" 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 an Arab male infant with CACT deficiency, <a href="#9" class="mim-tip-reference" title="Iacobazzi, V., Pasquali, M., Singh, R., Matern, D., Rinaldo, P., di San Filippo, C. A., Palmieri, F., Longo, N. <strong>Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.</strong> Am. J. Med. Genet. 126A: 150-155, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15057979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15057979</a>] [<a href="https://doi.org/10.1002/ajmg.a.20573" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15057979">Iacobazzi et al. (2004)</a> demonstrated homozygosity for the Q238R mutation in the SLC25A20 gene. The proband was the third child of consanguineous parents. Their second child, a female, died in Saudi Arabia at 3 days of age with an illness similar to the one in the proband. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15057979" 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>.0008 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</strong>
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SLC25A20, TRP192TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777286 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777286;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=rs587777286" 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=rs587777286" 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=RCV000114402" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000114402" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000114402</a>
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<p>In a Japanese infant who died of carnitine-acylcarnitine translocase deficiency (CACTD; <a href="/entry/212138">212138</a>), <a href="#3" class="mim-tip-reference" title="Fukushima, T., Kaneoka, H., Yasuno, T., Sasaguri, Y., Tokuyasu, T., Tokoro, K., Fukao, T., Saito, T. <strong>Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.</strong> J. Hum. Genet. 58: 788-793, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24088670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24088670</a>] [<a href="https://doi.org/10.1038/jhg.2013.103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24088670">Fukushima et al. (2013)</a> identified compound heterozygous mutations in the SLC25A20 gene: a c.576G-A transition in exon 6, resulting in a trp192-to-ter (W192X) substitution, and a T-to-G transversion in intron 1 (c.199-10T-G; <a href="#0006">613698.0006</a>), resulting in aberrant splicing. Each unaffected parent was heterozygous for 1 of the mutations. A second unrelated Japanese infant with the disorder was found to be compound heterozygous for W192X and a different splice site mutation (c.106-2A-T; <a href="#0009">613698.0009</a>) in intron 1. Each unaffected parent was heterozygous for 1 of the mutations. None of the mutations were found in 13 control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24088670" 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>.0009 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</strong>
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SLC25A20, IVS1AS, A-T, -2
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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> rs587777287 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777287;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/rs587777287?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=rs587777287" 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=rs587777287" 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=RCV000114403" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000114403" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000114403</a>
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<p>For discussion of the splice site mutation (c.106-2A-T) in intron 1 of the SLC25A20 gene that was found in compound heterozygous state in a patient with carnitine-acylcarnitine translocase deficiency (CACTD; <a href="/entry/212138">212138</a>) by <a href="#3" class="mim-tip-reference" title="Fukushima, T., Kaneoka, H., Yasuno, T., Sasaguri, Y., Tokuyasu, T., Tokoro, K., Fukao, T., Saito, T. <strong>Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.</strong> J. Hum. Genet. 58: 788-793, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24088670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24088670</a>] [<a href="https://doi.org/10.1038/jhg.2013.103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24088670">Fukushima et al. (2013)</a>, see <a href="#0008">613698.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24088670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Al Aqeel, A. I., Rashid, M. S., Ruiter, J. P., Ijlst, L., Wanders, R. J.
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<strong>A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. (Letter)</strong>
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Clin. Genet. 64: 163-165, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12859414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12859414</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12859414" 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/10.1034/j.1399-0004.2003.00117.x" target="_blank">Full Text</a>]
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Costa, C., Costa, J. M., Nuoffer, J. M., Slama, A., Boutron, A., Saudubray, J. M., Legrand, A., Brivet, M.
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<strong>Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency.</strong>
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J. Inherit. Metab. Dis. 22: 267-270, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10384384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10384384</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10384384" 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/10.1023/a:1005590223680" target="_blank">Full Text</a>]
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Fukushima, T., Kaneoka, H., Yasuno, T., Sasaguri, Y., Tokuyasu, T., Tokoro, K., Fukao, T., Saito, T.
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<strong>Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.</strong>
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J. Hum. Genet. 58: 788-793, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24088670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24088670</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24088670" 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/jhg.2013.103" target="_blank">Full Text</a>]
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<a id="Huizing1997" class="mim-anchor"></a>
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Huizing, M., Iacobazzi, V., IJlst, L., Savelkoul, P., Ruitenbeek, W., van den Heuvel, L., Indiveri, C., Smeitink, J., Trijbels, F, Wanders, R., Palmieri, F.
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<strong>Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.</strong>
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Am. J. Hum. Genet. 61: 1239-1245, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399886</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9399886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/301628" target="_blank">Full Text</a>]
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<a id="Huizing1998" class="mim-anchor"></a>
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Huizing, M., Ruitenbeek, W., van den Heuvel, L. P., Dolce, V., Iacobazzi, V., Smeitink, J. A. M., Palmieri, F., Trijbels, J. M. F.
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<strong>Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders.</strong>
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J. Bioenerg. Biomembr. 30: 277-284, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9733094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9733094</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9733094" 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/10.1023/a:1020501021222" target="_blank">Full Text</a>]
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<a id="Huizing1998" class="mim-anchor"></a>
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Huizing, M., Wendel, U., Ruitenbeek, W., Iacobazzi, V., IJlst, L., Veenhuizen, P., Savelkoul, P., van den Heuvel, L. P., Smeitink, J. A. M., Wanders, R. J. A., Trijbels, J. M. F., Palmieri, F.
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<strong>Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.</strong>
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J. Inherit. Metab. Dis. 21: 262-267, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9686371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9686371</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9686371" 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/10.1023/a:1005324323401" target="_blank">Full Text</a>]
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<a id="Iacobazzi2004" class="mim-anchor"></a>
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<div class="">
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Iacobazzi, V., Invernizzi, F., Baratta, S., Pons, R., Chung, W., Garavaglia, B., Dionisi-Vici, C., Ribes, A., Parini, R., Huertas, M. D., Roldan, S., Lauria, G., Palmieri, F., Taroni, F.
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<strong>Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.</strong>
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Hum. Mutat. 24: 312-320, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15365988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15365988</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15365988" 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.20085" target="_blank">Full Text</a>]
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<a id="Iacobazzi1998" class="mim-anchor"></a>
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Iacobazzi, V., Naglieri, M. A., Stanley, C. A., Wanders, R. J. A., Palmieri, F.
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<strong>The structure and organization of the human carnitine/acylcarnitine translocase (CACT) gene.</strong>
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Biochem. Biophys. Res. Commun. 252: 770-774, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837782</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9837782" 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/10.1006/bbrc.1998.9738" target="_blank">Full Text</a>]
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<a id="Iacobazzi2004" class="mim-anchor"></a>
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Iacobazzi, V., Pasquali, M., Singh, R., Matern, D., Rinaldo, P., di San Filippo, C. A., Palmieri, F., Longo, N.
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<strong>Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.</strong>
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Am. J. Med. Genet. 126A: 150-155, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15057979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15057979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15057979" 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/ajmg.a.20573" target="_blank">Full Text</a>]
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<a id="Ogawa2000" class="mim-anchor"></a>
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Ogawa, A., Yamamoto, S., Kanazawa, M., Takayanagi, M., Hasegawa, S., Kohno, Y.
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<strong>Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency.</strong>
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J. Hum. Genet. 45: 52-55, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10697964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10697964</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10697964" 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/s100380050010" target="_blank">Full Text</a>]
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<a id="Rubio-Gozalbo2004" class="mim-anchor"></a>
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Rubio-Gozalbo, M. E., Bakker, J. A., Waterham, H. R., Wanders, R. J.
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<strong>Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.</strong>
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Molec. Aspects Med. 25: 521-532, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15363639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15363639</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15363639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.mam.2004.06.007" target="_blank">Full Text</a>]
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<a id="Stanley1992" class="mim-anchor"></a>
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Stanley, C. A., Hale, D. E., Berry, G. T., Deleeuw, S., Boxer, J., Bonnefont, J.-P.
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<strong>A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.</strong>
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New Eng. J. Med. 327: 19-23, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1598097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM199207023270104" target="_blank">Full Text</a>]
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<a id="Tachibana2005" class="mim-anchor"></a>
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Tachibana, K., Kobayashi, Y., Tanaka, T., Tagami, M., Sugiyama, A., Katayama, T., Ueda, C., Yamasaki, D., Ishimoto, K., Sumitomo, M., Uchiyama, Y., Kohro, T., Sakai, J., Hamakubo, T., Kodama, T., Doi, T.
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<strong>Gene expression profiling of potential peroxisome proliferator-activated receptor (PPAR) target genes in human hepatoblastoma cell lines inducibly expressing different PPAR isoforms.</strong>
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Nucl. Recept. 3: 3, 2005. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16197558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16197558</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16197558[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16197558" 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/10.1186/1478-1336-3-3" target="_blank">Full Text</a>]
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Tachibana, K., Takeuchi, K., Inada, H., Yamasaki, D., Ishimoto, K., Tanaka, T., Hamakubo, T., Sakai, J., Kodama, T., Doi, T.
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<strong>Regulation of the human SLC25A20 expression by peroxisome proliferator-activated receptor alpha in human hepatoblastoma cells.</strong>
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Biochem. Biophys. Res. Commun. 389: 501-505, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19748481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19748481</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19748481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.bbrc.2009.09.018" target="_blank">Full Text</a>]
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Viggiano, L., Iacobazzi, V., Marzella, R., Cassano, C., Rocchi, M., Palmieri, F.
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<strong>Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization.</strong>
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Cytogenet. Cell Genet. 79: 62-63, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9533014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9533014</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9533014" 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/10.1159/000134684" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/4/2014
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Patricia A. Hartz - updated : 1/21/2011
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Carol A. Bocchini : 1/18/2011
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alopez : 04/08/2014<br>mcolton : 3/7/2014<br>ckniffin : 3/4/2014<br>terry : 2/18/2011<br>carol : 1/21/2011<br>carol : 1/19/2011<br>carol : 1/19/2011
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<span class="mim-font">
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<strong>*</strong> 613698
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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 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER 20; SLC25A20
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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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CARNITINE-ACYLCARNITINE TRANSLOCASE; CACT<br />
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CARNITINE-ACYLCARNITINE CARRIER; CAC
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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: SLC25A20</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> 238003000;
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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: 3p21.31
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:48,856,926-48,898,882 </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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3p21.31
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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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Carnitine-acylcarnitine translocase deficiency
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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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212138
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The SLC25A20 gene encodes carnitine-acylcarnitine translocase (CACT), one of the components of the carnitine cycle. The carnitine cycle is necessary to shuttle long-chain fatty acids from the cytosol into the intramitochondrial space where mitochondrial beta-oxidation of fatty acids takes place (summary by Rubio-Gozalbo et al., 2004). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Huizing et al. (1997) cloned and sequenced the human CACT cDNA, which has an open reading frame of 903 bp. They symbolized the gene CAC, for carnitine-acylcarnitine carrier. Northern blot studies showed different expression levels of the gene in various human tissues. Huizing et al. (1998) studied the human tissue distribution of mitochondrial transmembrane metabolite carriers by Northern and Western blot analyses. They found a high level of CACT mRNA transcripts in heart, skeletal muscle, and liver, and much lower levels in brain, placenta, kidney, pancreas, and especially in lung. </p><p>Iacobazzi et al. (1998) determined that the CACT protein contains 6 transmembrane segments and has cytoplasmic N- and C-termini. CACT also has 3 large extracellular loops between transmembrane segments 1 and 2, 3 and 4, and 5 and 6. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Iacobazzi et al. (1998) determined that the SLC25A20 gene contains 9 coding exons and spans 16.5 kb. Exon 1 is GC-rich, and intron 1 contains a long interspersed sequence. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By fluorescence in situ hybridization, Viggiano et al. (1997) mapped the CACT gene to 3p21.31 and its pseudogene, CACTP, to 6p12. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Tachibana et al. (2005) showed that the expression of SLC25A20 was upregulated by PPAR-alpha (PPARA; 170998), a ligand-activated transcription factor with a central role in the control of lipid metabolism. Tachibana et al. (2009) confirmed that SLC25A20 mRNA and protein was positively upregulated by ligand-activated PPAR-alpha in human hepatoblastoma cell lines. Sequence analysis, reporter gene assays, electrophoretic mobility shift assays, and supershift assays confirmed the functional binding of PPAR-alpha to a peroxisome proliferator responsive element (PPRE) in the promoter region of the SLC25A20 gene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>By direct sequencing of CACT (SLC25A20) cDNA from an infant with carnitine-acylcarnitine translocase deficiency (CACTD; 212138), Huizing et al. (1997) identified a homozygous cytosine insertion (613698.0001). The insertion caused a frameshift and an extension of the open reading frame with 23 novel codons. </p><p>In a child with CACT deficiency who was the product of a consanguineous marriage, Iacobazzi et al. (2004) identified homozygosity for a gln238-to-arg mutation in the SLC25A20 gene (Q238R; 613698.0007). Both parents were heterozygous for the mutation. </p><p>Iacobazzi et al. (2004) found significant clinical heterogeneity among 6 CACT-deficient patients from Italy, Spain, and North America. In 5 patients, the disease manifested in the neonatal period, whereas the remaining patient, the younger sib of an infant who had died with clinical suspicion of fatty acid oxidation defect, had been treated since birth and was clinically asymptomatic at 4.5 years of age. Sequence analysis of the SLC25A20 gene identified 5 novel mutations and 3 previously reported mutations. Combined analysis of clinical, biochemical, and molecular data failed to indicate a correlation between phenotype and genotype. </p><p>In 2 unrelated Japanese infants with CACTD, Fukushima et al. (2013) identified compound heterozygous mutations in the CACT gene (613698.0006, 613698.0008-613698.0009). </p>
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</span>
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>9 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
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|
<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
SLC25A20, 1-BP INS, FS323TER
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|
|
<br />
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|
|
SNP: rs587776759,
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|
|
ClinVar: RCV000012915
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|
|
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|
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</span>
|
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</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Huizing et al. (1997) identified homozygosity for a 1-bp insertion in the CACT gene in a 9-year-old girl with carnitine-acylcarnitine translocase deficiency (CACTD; 212138). She had survived a severe neonatal condition consisting of hypoglycemia, cardiac arrest, hepatomegaly, and hepatic dysfunction--all features often observed in patients with a fatty-acid oxidation disorder. Episodes of lethargy and hepatomegaly occurred thereafter during mild viral infections. Later physical and neurophysiologic development was essentially normal. The girl did well with prolonged exercise, and between attacks she was alert, cooperative, and pleasant. Sequencing of the patient's cDNA for CACT showed insertion of a cytosine in a cytosine-rich region. The protein encoded by the CACT gene is 301 amino acids long; the insertion changed the sequence of the CACT protein from amino acid 300 (asparagine to glutamine) to the C terminus and expanded the length of the protein by 21 amino acids, to a total of 322 amino acids. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
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|
|
SLC25A20, 128-BP DEL
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|
|
<br />
|
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|
|
SNP: rs1553686314,
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|
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ClinVar: RCV000012916
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</span>
|
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</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs with carnitine-acylcarnitine translocase deficiency (CACTD; 212138), the offspring of consanguineous Turkish parents, Huizing et al. (1998) identified compound heterozygosity for 2 deletions of the CACT gene: deletion of 128 bp (basepairs 261-388) and deletion of 110 bp (basepairs 671-780) (613698.0003). In each case a premature stop codon was introduced owing to frameshift. Further studies indicated that no product carrying both deletions was obtained, suggesting that the patient was a compound heterozygote (despite consanguinity of the parents). It was predicted that the number of amino acids, 301 in the wildtype protein, was reduced to 139 in the first deletion and 211 in the second deletion. The patient in this case became somnolent, had bradycardia, and developed generalized skeletal muscle weakness by the third day of life. Hypoglycemia, moderate metabolic acidosis, increased plasma ammonia concentrations, and dicarboxylic aciduria were found. During an attack of cardiac arrhythmias and arrest he was resuscitated and artificial ventilation was started, which was continued until death at the age of 8 weeks. On treatment he developed hypertrophic cardiomyopathy and marked hepatomegaly. At least one other child in this sibship, a girl, was well until the sixth day of life when she developed a course of disease strikingly similar to that of her younger brother, with somnolence, tachyarrhythmias, and cardiorespiratory distress requiring resuscitation. Later she showed mild hyperammonemia, hepatomegaly with abnormal liver functions and seizures, and she died with multiorgan failure at the age of 5 weeks. </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>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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SLC25A20, 110-BP DEL
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<br />
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ClinVar: RCV000012917
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the 110-bp deletion (basepairs 671-680) in the SLC25A20 gene that was found in compound heterozygous state in sibs with carnitine-acylcarnitine translocase deficiency (CACTD; 212138) by Huizing et al. (1998), see 613698.0002. </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 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</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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SLC25A20, ARG166TER
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<br />
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SNP: rs151340616,
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gnomAD: rs151340616,
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ClinVar: RCV000012918, RCV000627246
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a patient with severe carnitine-acylcarnitine translocase deficiency (CACTD; 212138), Costa et al. (1999) found a homozygous 558C-T transition in the CACT cDNA, resulting in a premature stop codon (arg166 to ter). The presence of this C-to-T transition was directly confirmed in genomic DNA of the patient and her parents by analyzing a PCR-amplified product of 211 bp encompassing the mutation. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
|
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SLC25A20, 1-BP DEL, 146T
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<br />
|
|
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SNP: rs587776760,
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gnomAD: rs587776760,
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ClinVar: RCV000012919, RCV000186166
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|
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a patient with carnitine-acylcarnitine translocase deficiency (CACTD; 212138), Ogawa et al. (2000) identified compound heterozygous mutations in the SLC25A20 gene: a 1-bp deletion (146delT), leading to premature termination and resulting in a very immature CACT protein, and a splicing mutation (613698.0006). Fibroblasts were from the patient reported by Stanley et al. (1992). </p>
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</span>
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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SLC25A20, IVS2AS, T-G, -10
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<br />
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SNP: rs541208710,
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gnomAD: rs541208710,
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ClinVar: RCV000012920, RCV000427395, RCV004757104
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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 patient with CACT deficiency (CACTD; 212138), Ogawa et al. (2000) found compound heterozygosity for a splice site mutation, a T-to-G transversion at the nucleotide -10 upstream from the splice acceptor site of intron 2, and a 146delT mutation (613698.0005). </p><p>In a Japanese patient who died of CACT deficiency, Fukushima et al. (2013) identified compound heterozygous mutations in the SLC25A20 gene: a T-to-G transversion in intron 2 (c.199-10T-G) and W192X (613698.0008). Each unaffected parent was heterozygous for 1 of the mutations. </p>
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<h4>
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<span class="mim-font">
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<strong>.0007 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</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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SLC25A20, GLN238ARG
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<br />
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SNP: rs28934589,
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ClinVar: RCV000012921, RCV000153966
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</span>
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</div>
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<span class="mim-text-font">
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<p>In a Saudi patient with virtually complete CACT deficiency (CACTD; 212138) in fibroblasts, born to first-cousin parents, Al Aqeel et al. (2003) identified homozygosity for a 712A-G transition in the cDNA of the SLC25A20 gene, resulting in a glu238-to-arg (Q238R) substitution. The patient presented on the second day of life with nystagmus and hyperammonemia. Thickened interventricular septum of the heart was demonstrated. The patient died at 7 months of age as a result of cardiac arrhythmia; 3 sibs had previously died as neonates. </p><p>In an Arab male infant with CACT deficiency, Iacobazzi et al. (2004) demonstrated homozygosity for the Q238R mutation in the SLC25A20 gene. The proband was the third child of consanguineous parents. Their second child, a female, died in Saudi Arabia at 3 days of age with an illness similar to the one in the proband. </p>
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</span>
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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>.0008 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</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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SLC25A20, TRP192TER
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<br />
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SNP: rs587777286,
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ClinVar: RCV000114402
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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 Japanese infant who died of carnitine-acylcarnitine translocase deficiency (CACTD; 212138), Fukushima et al. (2013) identified compound heterozygous mutations in the SLC25A20 gene: a c.576G-A transition in exon 6, resulting in a trp192-to-ter (W192X) substitution, and a T-to-G transversion in intron 1 (c.199-10T-G; 613698.0006), resulting in aberrant splicing. Each unaffected parent was heterozygous for 1 of the mutations. A second unrelated Japanese infant with the disorder was found to be compound heterozygous for W192X and a different splice site mutation (c.106-2A-T; 613698.0009) in intron 1. Each unaffected parent was heterozygous for 1 of the mutations. None of the mutations were found in 13 control individuals. </p>
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</span>
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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>.0009 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY</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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SLC25A20, IVS1AS, A-T, -2
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<br />
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SNP: rs587777287,
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gnomAD: rs587777287,
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ClinVar: RCV000114403
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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>For discussion of the splice site mutation (c.106-2A-T) in intron 1 of the SLC25A20 gene that was found in compound heterozygous state in a patient with carnitine-acylcarnitine translocase deficiency (CACTD; 212138) by Fukushima et al. (2013), see 613698.0008. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Al Aqeel, A. I., Rashid, M. S., Ruiter, J. P., Ijlst, L., Wanders, R. J.
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<strong>A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. (Letter)</strong>
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Clin. Genet. 64: 163-165, 2003.
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[PubMed: 12859414]
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[Full Text: https://doi.org/10.1034/j.1399-0004.2003.00117.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Costa, C., Costa, J. M., Nuoffer, J. M., Slama, A., Boutron, A., Saudubray, J. M., Legrand, A., Brivet, M.
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<strong>Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency.</strong>
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J. Inherit. Metab. Dis. 22: 267-270, 1999.
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[PubMed: 10384384]
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[Full Text: https://doi.org/10.1023/a:1005590223680]
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</li>
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<li>
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<p class="mim-text-font">
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Fukushima, T., Kaneoka, H., Yasuno, T., Sasaguri, Y., Tokuyasu, T., Tokoro, K., Fukao, T., Saito, T.
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<strong>Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.</strong>
|
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J. Hum. Genet. 58: 788-793, 2013.
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[PubMed: 24088670]
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[Full Text: https://doi.org/10.1038/jhg.2013.103]
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</p>
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<li>
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<p class="mim-text-font">
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Huizing, M., Iacobazzi, V., IJlst, L., Savelkoul, P., Ruitenbeek, W., van den Heuvel, L., Indiveri, C., Smeitink, J., Trijbels, F, Wanders, R., Palmieri, F.
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|
<strong>Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.</strong>
|
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Am. J. Hum. Genet. 61: 1239-1245, 1997.
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[PubMed: 9399886]
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[Full Text: https://doi.org/10.1086/301628]
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</p>
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<li>
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<p class="mim-text-font">
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Huizing, M., Ruitenbeek, W., van den Heuvel, L. P., Dolce, V., Iacobazzi, V., Smeitink, J. A. M., Palmieri, F., Trijbels, J. M. F.
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<strong>Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders.</strong>
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J. Bioenerg. Biomembr. 30: 277-284, 1998.
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[PubMed: 9733094]
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[Full Text: https://doi.org/10.1023/a:1020501021222]
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</p>
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<li>
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<p class="mim-text-font">
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Huizing, M., Wendel, U., Ruitenbeek, W., Iacobazzi, V., IJlst, L., Veenhuizen, P., Savelkoul, P., van den Heuvel, L. P., Smeitink, J. A. M., Wanders, R. J. A., Trijbels, J. M. F., Palmieri, F.
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<strong>Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.</strong>
|
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J. Inherit. Metab. Dis. 21: 262-267, 1998.
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[PubMed: 9686371]
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[Full Text: https://doi.org/10.1023/a:1005324323401]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Iacobazzi, V., Invernizzi, F., Baratta, S., Pons, R., Chung, W., Garavaglia, B., Dionisi-Vici, C., Ribes, A., Parini, R., Huertas, M. D., Roldan, S., Lauria, G., Palmieri, F., Taroni, F.
|
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<strong>Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.</strong>
|
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Hum. Mutat. 24: 312-320, 2004.
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[PubMed: 15365988]
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[Full Text: https://doi.org/10.1002/humu.20085]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Iacobazzi, V., Naglieri, M. A., Stanley, C. A., Wanders, R. J. A., Palmieri, F.
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<strong>The structure and organization of the human carnitine/acylcarnitine translocase (CACT) gene.</strong>
|
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Biochem. Biophys. Res. Commun. 252: 770-774, 1998.
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[PubMed: 9837782]
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[Full Text: https://doi.org/10.1006/bbrc.1998.9738]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Iacobazzi, V., Pasquali, M., Singh, R., Matern, D., Rinaldo, P., di San Filippo, C. A., Palmieri, F., Longo, N.
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<strong>Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.</strong>
|
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Am. J. Med. Genet. 126A: 150-155, 2004.
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[PubMed: 15057979]
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[Full Text: https://doi.org/10.1002/ajmg.a.20573]
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<li>
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<p class="mim-text-font">
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Ogawa, A., Yamamoto, S., Kanazawa, M., Takayanagi, M., Hasegawa, S., Kohno, Y.
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<strong>Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency.</strong>
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J. Hum. Genet. 45: 52-55, 2000.
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[PubMed: 10697964]
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Rubio-Gozalbo, M. E., Bakker, J. A., Waterham, H. R., Wanders, R. J.
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<strong>Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.</strong>
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Molec. Aspects Med. 25: 521-532, 2004.
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[PubMed: 15363639]
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[Full Text: https://doi.org/10.1016/j.mam.2004.06.007]
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</p>
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<li>
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<p class="mim-text-font">
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Stanley, C. A., Hale, D. E., Berry, G. T., Deleeuw, S., Boxer, J., Bonnefont, J.-P.
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<strong>A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.</strong>
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New Eng. J. Med. 327: 19-23, 1992.
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[PubMed: 1598097]
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[Full Text: https://doi.org/10.1056/NEJM199207023270104]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Tachibana, K., Kobayashi, Y., Tanaka, T., Tagami, M., Sugiyama, A., Katayama, T., Ueda, C., Yamasaki, D., Ishimoto, K., Sumitomo, M., Uchiyama, Y., Kohro, T., Sakai, J., Hamakubo, T., Kodama, T., Doi, T.
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<strong>Gene expression profiling of potential peroxisome proliferator-activated receptor (PPAR) target genes in human hepatoblastoma cell lines inducibly expressing different PPAR isoforms.</strong>
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Nucl. Recept. 3: 3, 2005. Note: Electronic Article.
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[PubMed: 16197558]
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[Full Text: https://doi.org/10.1186/1478-1336-3-3]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Tachibana, K., Takeuchi, K., Inada, H., Yamasaki, D., Ishimoto, K., Tanaka, T., Hamakubo, T., Sakai, J., Kodama, T., Doi, T.
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<strong>Regulation of the human SLC25A20 expression by peroxisome proliferator-activated receptor alpha in human hepatoblastoma cells.</strong>
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Biochem. Biophys. Res. Commun. 389: 501-505, 2009.
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[PubMed: 19748481]
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[Full Text: https://doi.org/10.1016/j.bbrc.2009.09.018]
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</li>
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<li>
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<p class="mim-text-font">
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Viggiano, L., Iacobazzi, V., Marzella, R., Cassano, C., Rocchi, M., Palmieri, F.
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<strong>Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization.</strong>
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Cytogenet. Cell Genet. 79: 62-63, 1997.
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[PubMed: 9533014]
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[Full Text: https://doi.org/10.1159/000134684]
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</li>
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</ol>
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/4/2014<br>Patricia A. Hartz - updated : 1/21/2011
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carol : 08/06/2019<br>alopez : 04/08/2014<br>mcolton : 3/7/2014<br>ckniffin : 3/4/2014<br>terry : 2/18/2011<br>carol : 1/21/2011<br>carol : 1/19/2011<br>carol : 1/19/2011
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