2695 lines
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Entry
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- *608744 - SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER), MEMBER 24; SLC25A24
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- OMIM
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<p>
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<span class="h4">*608744</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608744">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div 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=ENSG00000085491;t=ENST00000565488" 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=29957" 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=608744" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</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=ENSG00000085491;t=ENST00000565488" 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_013386,NM_213651" 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_013386" 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=608744" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=12290&isoform_id=12290_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/SLC25A24" 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/6841066,45710075,46249805,47109340,47458041,48290289,119571639,119571640,148491091,158258571,167016554,194385350,221045996,221046400" 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/Q6NUK1" 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=29957" 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=ENSG00000085491;t=ENST00000565488" 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=SLC25A24" 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=SLC25A24" 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+29957" 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/SLC25A24" 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:29957" 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/29957" 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=chr1&hgg_gene=ENST00000565488.6&hgg_start=108134043&hgg_end=108200343&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608744[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608744[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/SLC25A24/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000085491" 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=SLC25A24" 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=SLC25A24" 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=SLC25A24" 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=SLC25A24&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/PA134978257" 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:20662" 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/FBgn0052103.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:1917160" 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/SLC25A24#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:1917160" 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/29957/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=29957" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00008924;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00008924 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00010077;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00010077 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-040912-183" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=SLC25A24&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> 770567006<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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608744
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER), MEMBER 24; SLC25A24
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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>
|
|
<span class="mim-font">
|
|
SHORT CALCIUM-BINDING MITOCHONDRIAL CARRIER 1; SCAMC1
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SLC25A24" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC25A24</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>
|
|
Cytogenetic location: <a href="/geneMap/1/859?start=-3&limit=10&highlight=859">1p13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:108134043-108200343&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'})">1:108,134,043-108,200,343</a> </span>
|
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</em>
|
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</strong>
|
|
<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">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<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>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/859?start=-3&limit=10&highlight=859">
|
|
1p13.3
|
|
</a>
|
|
</span>
|
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</td>
|
|
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<td>
|
|
<span class="mim-font">
|
|
Fontaine progeroid syndrome
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/612289"> 612289 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/608744" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/608744" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
|
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<h4>
|
|
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
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|
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<div>
|
|
<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
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<p>By searching an EST database using the rabbit peroxisomal carrier Efinal as query, followed by PCR of a heart cDNA library and RT-PCR of HEK293 cell total RNA, <a href="#3" class="mim-tip-reference" title="del Arco, A., Satrustegui, J. <strong>Identification of a novel human subfamily of mitochondrial carriers with calcium-binding domains.</strong> J. Biol. Chem. 279: 24701-24713, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054102</a>] [<a href="https://doi.org/10.1074/jbc.M401417200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054102">del Arco and Satrustegui (2004)</a> cloned SLC25A24, which they designated SCAMC1. The deduced 477-amino acid protein contains an N-terminal calcium-binding domain, followed by 6 transmembrane regions and a short C terminus. The calcium-binding domain shares 25% identity with calmodulin (see <a href="/entry/114180">114180</a>), with 4 EF-hand motifs at conserved positions. SCAMC1 also shares significant similarity with SCAMC2 (SLC25A25; <a href="/entry/608745">608745</a>) and SCAMC3 (SLC25A23; <a href="/entry/608746">608746</a>), with most differences in the N termini and EF-hand 1. Northern blot analysis detected a 3.4-kb SCAMC1 transcript in all tissues examined, and expression of SCAMC1 was generally higher than that of SCAMC2 or SCAMC3. Both endogenous and transfected epitope-tagged SCAMC1 were expressed in a subcellular pattern that overlapped with a mitochondrial marker. Western blot analysis of mitochondria-enriched fractions of a number of cell lines showed that SCAMC1 migrated at an apparent molecular mass of 48 to 50 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054102" 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="#3" class="mim-tip-reference" title="del Arco, A., Satrustegui, J. <strong>Identification of a novel human subfamily of mitochondrial carriers with calcium-binding domains.</strong> J. Biol. Chem. 279: 24701-24713, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054102</a>] [<a href="https://doi.org/10.1074/jbc.M401417200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054102">Del Arco and Satrustegui (2004)</a> determined that the SLC25A24 gene contains 10 exons and spans about 65 kb. The mouse Slc25a24 gene has an identical genomic organization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054102" 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 genomic sequence analysis, <a href="#3" class="mim-tip-reference" title="del Arco, A., Satrustegui, J. <strong>Identification of a novel human subfamily of mitochondrial carriers with calcium-binding domains.</strong> J. Biol. Chem. 279: 24701-24713, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054102</a>] [<a href="https://doi.org/10.1074/jbc.M401417200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054102">del Arco and Satrustegui (2004)</a> mapped the SLC25A24 gene to chromosome 1p36.13. They mapped the mouse Slc25a24 gene to a region of chromosome 2B that shows homology of synteny to human chromosome 1p36.13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054102" 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>In 5 unrelated girls with Fontaine progeroid syndrome (FPS; <a href="/entry/612289">612289</a>), 1 of whom died at age 20 months, <a href="#4" class="mim-tip-reference" title="Ehmke, N., Graul-Neumann, L., Smorag, L., Koenig, R., Segebrecht, L., Magoulas, P., Scaglia, F., Kilic, E., Hennig, A. F., Adolphs, N., Saha, N., Fauler, B., and 20 others. <strong>De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction.</strong> Am. J. Hum. Genet. 101: 833-843, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100093</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100093[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.09.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100093">Ehmke et al. (2017)</a> identified heterozygosity for 2 different de novo missense mutations in the SLC25A24 gene, both occurring at the same codon: R217H (<a href="#0001">608744.0001</a>) in 4 patients, and R217C (<a href="#0002">608744.0002</a>) in 1 patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29100093" 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 4 unrelated patients with FPS, who all died within the first year of life, <a href="#7" class="mim-tip-reference" title="Writzl, K., Maver, A., Kovacic, L. Martinez-Valero, P., Contreras, L., Satrustegui, J., Castori, M., Faivre, L., Lapunzina, P., van Kuilenburg, A. B. P., Radovic, S., Thauvin-Robinet, C., Peterlin, B., del Arco, A., Hennekam, R. C. <strong>De novo mutations in SLC25A24 cause a disorder characterized by early aging, bone dysplasia, characteristic face, and early demise.</strong> Am. J. Hum Genet. 101: 844-855, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100094</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100094[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.09.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100094">Writzl et al. (2017)</a> identified heterozygosity for the same 2 de novo missense mutations in the SLC25A24 gene at the R217 codon that had previously been reported by <a href="#4" class="mim-tip-reference" title="Ehmke, N., Graul-Neumann, L., Smorag, L., Koenig, R., Segebrecht, L., Magoulas, P., Scaglia, F., Kilic, E., Hennig, A. F., Adolphs, N., Saha, N., Fauler, B., and 20 others. <strong>De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction.</strong> Am. J. Hum. Genet. 101: 833-843, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100093</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100093[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.09.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100093">Ehmke et al. (2017)</a>: 3 of the patients carried the R217H variant, and 1 had the R217C variant. Functional analysis demonstrated that the mutations clearly affect mitochondrial morphology, and also suggested an impact on oxidative phosphorylation via decreased ATP synthesis and an increase in the mitochondrial membrane potential, thus creating conditions that are inhospitable to cell proliferation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29100094+29100093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553253989 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553253989;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=rs1553253989" 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=rs1553253989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 4 unrelated girls with Fontaine progeroid syndrome (FPS; <a href="/entry/612289">612289</a>), including a Hungarian girl originally reported by <a href="#1" class="mim-tip-reference" title="Adolphs, N., Klein, M., Haberl, E. J., Graul-Neumann, L., Menneking, H., Hoffmeister, B. <strong>Necrotizing soft tissue infection of the scalp after fronto-facial advancement by internal distraction in a 7-year-old girl with Gorlin-Chaudhry-Moss syndrome--a case report.</strong> J. Craniomaxillofac. Surg. 39: 554-561, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21216154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21216154</a>] [<a href="https://doi.org/10.1016/j.jcms.2010.11.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21216154">Adolphs et al. (2011)</a>, <a href="#4" class="mim-tip-reference" title="Ehmke, N., Graul-Neumann, L., Smorag, L., Koenig, R., Segebrecht, L., Magoulas, P., Scaglia, F., Kilic, E., Hennig, A. F., Adolphs, N., Saha, N., Fauler, B., and 20 others. <strong>De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction.</strong> Am. J. Hum. Genet. 101: 833-843, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100093</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100093[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.09.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100093">Ehmke et al. (2017)</a> identified heterozygosity for a de novo c.650G-A transition (c.650G-A, NM_013386.4) in exon 5 of the SLC25A24 gene, resulting in an arg217-to-his (R217H) substitution at a highly conserved residue in the predicted helix 1 of the transmembrane domain. The mutation was not found in the ExAC, gnomAD, or 1000 Genomes Project databases. Skin fibroblasts from 2 of the patients (patients 1 and 4) showed mitochondrial swelling, which developed into ballooning after induction of oxidative stress by treatment with H2O2, whereas control fibroblasts appeared almost unchanged; these findings were corroborated by transmission electron microscopy. In transfected HeLa cells, wildtype and mutant proteins both localized to mitochondria, but there was mitochondrial swelling and increased fragmentation with the mutant, which was more pronounced after treatment with H2O2. The mitochondrial membrane potential (MMP) showed no abnormality in patient fibroblasts under normal conditions; however, after treatment with H2O2, the MMP appeared higher in mutant fibroblasts than in control cells, indicating an altered proton gradient. Analysis of the ATP content of the mitochondrial matrix using firefly luciferase, an ATP-dependent enzyme, showed that patient fibroblasts had reduced firefly activity, consistent with a reduced matrix ATP content. Three of the patients were alive at ages 5, 5.5, and 7 years at last exam, but 1 patient (patient 4), a Turkish girl, died at age 20 months from a urinary tract infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29100093+21216154" 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 3 unrelated infants with FPS, including a Slovenian male infant (patient 1), a French female infant (patient 2) originally reported by <a href="#5" class="mim-tip-reference" title="Faivre, L., Khau Van Kien, P., Madinier-Chappat, N., Nivelon-Chevallier, A., Beer, F., LeMerrer, M. <strong>Can Hutchinson-Gilford progeria syndrome be a neonatal condition? (Letter)</strong> Am. J. Med. Genet. 87: 450-452, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10594888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10594888</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19991222)87:5<450::aid-ajmg16>3.0.co;2-t" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10594888">Faivre et al. (1999)</a>, and an Italian male newborn (patient 4) previously described by <a href="#2" class="mim-tip-reference" title="Castori, M., Silvestri, E., Pedace, L., Marseglia, G., Tempera, A., Antigoni, I., Torricelli, F., Majore, S., Grammatico, P. <strong>Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies.</strong> Am. J. Med. Genet. 149A: 2193-2199, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19731360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19731360</a>] [<a href="https://doi.org/10.1002/ajmg.a.32763" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19731360">Castori et al. (2009)</a>, <a href="#7" class="mim-tip-reference" title="Writzl, K., Maver, A., Kovacic, L. Martinez-Valero, P., Contreras, L., Satrustegui, J., Castori, M., Faivre, L., Lapunzina, P., van Kuilenburg, A. B. P., Radovic, S., Thauvin-Robinet, C., Peterlin, B., del Arco, A., Hennekam, R. C. <strong>De novo mutations in SLC25A24 cause a disorder characterized by early aging, bone dysplasia, characteristic face, and early demise.</strong> Am. J. Hum Genet. 101: 844-855, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100094</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100094[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.09.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100094">Writzl et al. (2017)</a> identified heterozygosity for the R217H mutation in SLC25A24, at a residue located just below the m-gate of the carrier, within the fully conserved mitochondrial carrier family (MCF) signature. The mutation was not found in the Slovenian exome database or the dbSNP (build 141), gnomAD, GoNL, or UK10K databases. Patient fibroblasts showed localization of the mutant protein to mitochondria, which were enlarged and swollen close to the nucleus; electron microscopy revealed abnormal cristae, which were larger and more dense in the swollen mitochondria than in normal mitochondria. Overexpression of the R217H mutant in HeLa and COS-7 cells showed abnormal swollen mitochondria similar to those observed in patient fibroblasts; however, in contrast to patient fibroblasts, the entire mitochondrial network appeared homogeneously affected. The Italian male newborn died at 20 hours of life from respiratory distress, and the other 2 patients died at 6 months and 7 months of age, from pulmonary hypertension and sepsis, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19731360+10594888+29100094" 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 FONTAINE PROGEROID SYNDROME</strong>
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SLC25A24, ARG217CYS (<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=SCV000320994" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ClinVar\', \'domain\': \'ncbi.nlm.nih.gov\'})">SCV000320994</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553253990 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553253990;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=rs1553253990" 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=rs1553253990" 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=RCV000508644 OR RCV004721346" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000508644, RCV004721346" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000508644...</a>
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<p>In a 14-year-old girl of northern European ancestry (patient 5) with Fontaine progeroid syndrome (FPS; <a href="/entry/612289">612289</a>), <a href="#4" class="mim-tip-reference" title="Ehmke, N., Graul-Neumann, L., Smorag, L., Koenig, R., Segebrecht, L., Magoulas, P., Scaglia, F., Kilic, E., Hennig, A. F., Adolphs, N., Saha, N., Fauler, B., and 20 others. <strong>De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction.</strong> Am. J. Hum. Genet. 101: 833-843, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100093</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100093[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.09.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100093">Ehmke et al. (2017)</a> identified heterozygosity for a de novo c.649C-T transition (c.649C-T, NM_013386.4) in exon 5 of the SLC25A24 gene, resulting in an arg217-to-cys (R217C) substitution at a highly conserved residue in the predicted helix 1 of the transmembrane domain. The mutation was not found in the ExAC, gnomAD, or 1000 Genomes Project databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29100093" 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 Spanish female newborn (patient 3) with FPS, who was originally described by <a href="#6" class="mim-tip-reference" title="Rodriguez, J. I., Perez-Alonso, P., Funes, R., Perez-Rodriguez, J. <strong>Lethal neonatal Hutchinson-Gilford progeria syndrome.</strong> Am. J. Med. Genet. 82: 242-248, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10215548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10215548</a>]" pmid="10215548">Rodriguez et al. (1999)</a> and who died at 7 hours of life from respiratory distress, <a href="#7" class="mim-tip-reference" title="Writzl, K., Maver, A., Kovacic, L. Martinez-Valero, P., Contreras, L., Satrustegui, J., Castori, M., Faivre, L., Lapunzina, P., van Kuilenburg, A. B. P., Radovic, S., Thauvin-Robinet, C., Peterlin, B., del Arco, A., Hennekam, R. C. <strong>De novo mutations in SLC25A24 cause a disorder characterized by early aging, bone dysplasia, characteristic face, and early demise.</strong> Am. J. Hum Genet. 101: 844-855, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100094</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100094[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.09.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100094">Writzl et al. (2017)</a> identified heterozygosity for the R217C mutation in SLC25A24, at a residue located just below the m-gate of the carrier, within the fully conserved MCF signature. The mutation was not found in the Slovenian exome database or the dbSNP (build 141), gnomAD, GoNL, or UK10K databases. Overexpression of the R217C mutant in HeLa and COS-7 cells showed abnormal swollen mitochondria. HeLa cells expressing the R217C mutant showed lower protein levels than wildtype cells, and were obtained at lower frequency, suggesting a detrimental effect of R217C on cellular viability. This was confirmed using the xCELLigence biosensor system, which showed that the cell index was lower in mutant HeLa cells than wildtype, and that mutant cells exhibited a lower cell proliferation rate than controls. In addition, the basal mitochondrial membrane potential was higher in R217C-expressing HeLa cell lines and in patient fibroblasts than in control cells, and the contribution of ATP synthesis to basal mitochondrial respiration was clearly lower with the R217C mutant than with wildtype, indicating that mitochondrial hyperpolarization is associated with impaired ATP synthesis by mutant mitochondria. Analysis of mitochondrial ATP after inhibition by oligomycin was consistent with increased ATP demand in mutant cells, suggesting that the primary effect of the R217C mutation is not decreased ATP demand but decreased mitochondrial ATP production, which increases the membrane potential, with a subsequent increase in proton leak. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29100094+10215548" 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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Adolphs, N., Klein, M., Haberl, E. J., Graul-Neumann, L., Menneking, H., Hoffmeister, B.
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<strong>Necrotizing soft tissue infection of the scalp after fronto-facial advancement by internal distraction in a 7-year-old girl with Gorlin-Chaudhry-Moss syndrome--a case report.</strong>
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J. Craniomaxillofac. Surg. 39: 554-561, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21216154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21216154</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21216154" 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.jcms.2010.11.016" target="_blank">Full Text</a>]
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Castori, M., Silvestri, E., Pedace, L., Marseglia, G., Tempera, A., Antigoni, I., Torricelli, F., Majore, S., Grammatico, P.
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<strong>Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies.</strong>
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Am. J. Med. Genet. 149A: 2193-2199, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19731360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19731360</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19731360" 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.32763" target="_blank">Full Text</a>]
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del Arco, A., Satrustegui, J.
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<strong>Identification of a novel human subfamily of mitochondrial carriers with calcium-binding domains.</strong>
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J. Biol. Chem. 279: 24701-24713, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054102</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054102" 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/10.1074/jbc.M401417200" target="_blank">Full Text</a>]
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Ehmke, N., Graul-Neumann, L., Smorag, L., Koenig, R., Segebrecht, L., Magoulas, P., Scaglia, F., Kilic, E., Hennig, A. F., Adolphs, N., Saha, N., Fauler, B., and 20 others.
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<strong>De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction.</strong>
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Am. J. Hum. Genet. 101: 833-843, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100093</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100093[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=29100093" 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.ajhg.2017.09.016" target="_blank">Full Text</a>]
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Faivre, L., Khau Van Kien, P., Madinier-Chappat, N., Nivelon-Chevallier, A., Beer, F., LeMerrer, M.
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<strong>Can Hutchinson-Gilford progeria syndrome be a neonatal condition? (Letter)</strong>
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Am. J. Med. Genet. 87: 450-452, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10594888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10594888</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10594888" 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/(sici)1096-8628(19991222)87:5<450::aid-ajmg16>3.0.co;2-t" target="_blank">Full Text</a>]
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Rodriguez, J. I., Perez-Alonso, P., Funes, R., Perez-Rodriguez, J.
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<strong>Lethal neonatal Hutchinson-Gilford progeria syndrome.</strong>
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Am. J. Med. Genet. 82: 242-248, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10215548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10215548</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10215548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Writzl, K., Maver, A., Kovacic, L. Martinez-Valero, P., Contreras, L., Satrustegui, J., Castori, M., Faivre, L., Lapunzina, P., van Kuilenburg, A. B. P., Radovic, S., Thauvin-Robinet, C., Peterlin, B., del Arco, A., Hennekam, R. C.
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<strong>De novo mutations in SLC25A24 cause a disorder characterized by early aging, bone dysplasia, characteristic face, and early demise.</strong>
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Am. J. Hum Genet. 101: 844-855, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100094</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100094[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=29100094" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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alopez : 10/11/2022<br>carol : 01/26/2018<br>mgross : 06/18/2004
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<div>
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<h3>
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER), MEMBER 24; SLC25A24
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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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SHORT CALCIUM-BINDING MITOCHONDRIAL CARRIER 1; SCAMC1
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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: SLC25A24</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> 770567006;
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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: 1p13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:108,134,043-108,200,343 </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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1p13.3
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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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Fontaine progeroid syndrome
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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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|
612289
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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 dominant
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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>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>By searching an EST database using the rabbit peroxisomal carrier Efinal as query, followed by PCR of a heart cDNA library and RT-PCR of HEK293 cell total RNA, del Arco and Satrustegui (2004) cloned SLC25A24, which they designated SCAMC1. The deduced 477-amino acid protein contains an N-terminal calcium-binding domain, followed by 6 transmembrane regions and a short C terminus. The calcium-binding domain shares 25% identity with calmodulin (see 114180), with 4 EF-hand motifs at conserved positions. SCAMC1 also shares significant similarity with SCAMC2 (SLC25A25; 608745) and SCAMC3 (SLC25A23; 608746), with most differences in the N termini and EF-hand 1. Northern blot analysis detected a 3.4-kb SCAMC1 transcript in all tissues examined, and expression of SCAMC1 was generally higher than that of SCAMC2 or SCAMC3. Both endogenous and transfected epitope-tagged SCAMC1 were expressed in a subcellular pattern that overlapped with a mitochondrial marker. Western blot analysis of mitochondria-enriched fractions of a number of cell lines showed that SCAMC1 migrated at an apparent molecular mass of 48 to 50 kD. </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>Del Arco and Satrustegui (2004) determined that the SLC25A24 gene contains 10 exons and spans about 65 kb. The mouse Slc25a24 gene has an identical genomic organization. </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 genomic sequence analysis, del Arco and Satrustegui (2004) mapped the SLC25A24 gene to chromosome 1p36.13. They mapped the mouse Slc25a24 gene to a region of chromosome 2B that shows homology of synteny to human chromosome 1p36.13. </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>In 5 unrelated girls with Fontaine progeroid syndrome (FPS; 612289), 1 of whom died at age 20 months, Ehmke et al. (2017) identified heterozygosity for 2 different de novo missense mutations in the SLC25A24 gene, both occurring at the same codon: R217H (608744.0001) in 4 patients, and R217C (608744.0002) in 1 patient. </p><p>In 4 unrelated patients with FPS, who all died within the first year of life, Writzl et al. (2017) identified heterozygosity for the same 2 de novo missense mutations in the SLC25A24 gene at the R217 codon that had previously been reported by Ehmke et al. (2017): 3 of the patients carried the R217H variant, and 1 had the R217C variant. Functional analysis demonstrated that the mutations clearly affect mitochondrial morphology, and also suggested an impact on oxidative phosphorylation via decreased ATP synthesis and an increase in the mitochondrial membrane potential, thus creating conditions that are inhospitable to cell proliferation. </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>2 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 FONTAINE PROGEROID SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
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|
|
SLC25A24, ARG217HIS ({dbSNP SCV000320993})
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|
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|
|
<br />
|
|
|
|
SNP: rs1553253989,
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|
|
|
|
|
|
|
ClinVar: RCV000508607, RCV001249454
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 unrelated girls with Fontaine progeroid syndrome (FPS; 612289), including a Hungarian girl originally reported by Adolphs et al. (2011), Ehmke et al. (2017) identified heterozygosity for a de novo c.650G-A transition (c.650G-A, NM_013386.4) in exon 5 of the SLC25A24 gene, resulting in an arg217-to-his (R217H) substitution at a highly conserved residue in the predicted helix 1 of the transmembrane domain. The mutation was not found in the ExAC, gnomAD, or 1000 Genomes Project databases. Skin fibroblasts from 2 of the patients (patients 1 and 4) showed mitochondrial swelling, which developed into ballooning after induction of oxidative stress by treatment with H2O2, whereas control fibroblasts appeared almost unchanged; these findings were corroborated by transmission electron microscopy. In transfected HeLa cells, wildtype and mutant proteins both localized to mitochondria, but there was mitochondrial swelling and increased fragmentation with the mutant, which was more pronounced after treatment with H2O2. The mitochondrial membrane potential (MMP) showed no abnormality in patient fibroblasts under normal conditions; however, after treatment with H2O2, the MMP appeared higher in mutant fibroblasts than in control cells, indicating an altered proton gradient. Analysis of the ATP content of the mitochondrial matrix using firefly luciferase, an ATP-dependent enzyme, showed that patient fibroblasts had reduced firefly activity, consistent with a reduced matrix ATP content. Three of the patients were alive at ages 5, 5.5, and 7 years at last exam, but 1 patient (patient 4), a Turkish girl, died at age 20 months from a urinary tract infection. </p><p>In 3 unrelated infants with FPS, including a Slovenian male infant (patient 1), a French female infant (patient 2) originally reported by Faivre et al. (1999), and an Italian male newborn (patient 4) previously described by Castori et al. (2009), Writzl et al. (2017) identified heterozygosity for the R217H mutation in SLC25A24, at a residue located just below the m-gate of the carrier, within the fully conserved mitochondrial carrier family (MCF) signature. The mutation was not found in the Slovenian exome database or the dbSNP (build 141), gnomAD, GoNL, or UK10K databases. Patient fibroblasts showed localization of the mutant protein to mitochondria, which were enlarged and swollen close to the nucleus; electron microscopy revealed abnormal cristae, which were larger and more dense in the swollen mitochondria than in normal mitochondria. Overexpression of the R217H mutant in HeLa and COS-7 cells showed abnormal swollen mitochondria similar to those observed in patient fibroblasts; however, in contrast to patient fibroblasts, the entire mitochondrial network appeared homogeneously affected. The Italian male newborn died at 20 hours of life from respiratory distress, and the other 2 patients died at 6 months and 7 months of age, from pulmonary hypertension and sepsis, respectively. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 FONTAINE PROGEROID SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC25A24, ARG217CYS ({dbSNP SCV000320994})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1553253990,
|
|
|
|
|
|
|
|
ClinVar: RCV000508644, RCV004721346
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 14-year-old girl of northern European ancestry (patient 5) with Fontaine progeroid syndrome (FPS; 612289), Ehmke et al. (2017) identified heterozygosity for a de novo c.649C-T transition (c.649C-T, NM_013386.4) in exon 5 of the SLC25A24 gene, resulting in an arg217-to-cys (R217C) substitution at a highly conserved residue in the predicted helix 1 of the transmembrane domain. The mutation was not found in the ExAC, gnomAD, or 1000 Genomes Project databases. </p><p>In a Spanish female newborn (patient 3) with FPS, who was originally described by Rodriguez et al. (1999) and who died at 7 hours of life from respiratory distress, Writzl et al. (2017) identified heterozygosity for the R217C mutation in SLC25A24, at a residue located just below the m-gate of the carrier, within the fully conserved MCF signature. The mutation was not found in the Slovenian exome database or the dbSNP (build 141), gnomAD, GoNL, or UK10K databases. Overexpression of the R217C mutant in HeLa and COS-7 cells showed abnormal swollen mitochondria. HeLa cells expressing the R217C mutant showed lower protein levels than wildtype cells, and were obtained at lower frequency, suggesting a detrimental effect of R217C on cellular viability. This was confirmed using the xCELLigence biosensor system, which showed that the cell index was lower in mutant HeLa cells than wildtype, and that mutant cells exhibited a lower cell proliferation rate than controls. In addition, the basal mitochondrial membrane potential was higher in R217C-expressing HeLa cell lines and in patient fibroblasts than in control cells, and the contribution of ATP synthesis to basal mitochondrial respiration was clearly lower with the R217C mutant than with wildtype, indicating that mitochondrial hyperpolarization is associated with impaired ATP synthesis by mutant mitochondria. Analysis of mitochondrial ATP after inhibition by oligomycin was consistent with increased ATP demand in mutant cells, suggesting that the primary effect of the R217C mutation is not decreased ATP demand but decreased mitochondrial ATP production, which increases the membrane potential, with a subsequent increase in proton leak. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
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<div>
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|
<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Adolphs, N., Klein, M., Haberl, E. J., Graul-Neumann, L., Menneking, H., Hoffmeister, B.
|
|
<strong>Necrotizing soft tissue infection of the scalp after fronto-facial advancement by internal distraction in a 7-year-old girl with Gorlin-Chaudhry-Moss syndrome--a case report.</strong>
|
|
J. Craniomaxillofac. Surg. 39: 554-561, 2011.
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[PubMed: 21216154]
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[Full Text: https://doi.org/10.1016/j.jcms.2010.11.016]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Castori, M., Silvestri, E., Pedace, L., Marseglia, G., Tempera, A., Antigoni, I., Torricelli, F., Majore, S., Grammatico, P.
|
|
<strong>Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies.</strong>
|
|
Am. J. Med. Genet. 149A: 2193-2199, 2009.
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[PubMed: 19731360]
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[Full Text: https://doi.org/10.1002/ajmg.a.32763]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
del Arco, A., Satrustegui, J.
|
|
<strong>Identification of a novel human subfamily of mitochondrial carriers with calcium-binding domains.</strong>
|
|
J. Biol. Chem. 279: 24701-24713, 2004.
|
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|
[PubMed: 15054102]
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[Full Text: https://doi.org/10.1074/jbc.M401417200]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Ehmke, N., Graul-Neumann, L., Smorag, L., Koenig, R., Segebrecht, L., Magoulas, P., Scaglia, F., Kilic, E., Hennig, A. F., Adolphs, N., Saha, N., Fauler, B., and 20 others.
|
|
<strong>De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction.</strong>
|
|
Am. J. Hum. Genet. 101: 833-843, 2017.
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|
[PubMed: 29100093]
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[Full Text: https://doi.org/10.1016/j.ajhg.2017.09.016]
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</p>
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|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Faivre, L., Khau Van Kien, P., Madinier-Chappat, N., Nivelon-Chevallier, A., Beer, F., LeMerrer, M.
|
|
<strong>Can Hutchinson-Gilford progeria syndrome be a neonatal condition? (Letter)</strong>
|
|
Am. J. Med. Genet. 87: 450-452, 1999.
|
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|
|
[PubMed: 10594888]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19991222)87:5<450::aid-ajmg16>3.0.co;2-t]
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</p>
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|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Rodriguez, J. I., Perez-Alonso, P., Funes, R., Perez-Rodriguez, J.
|
|
<strong>Lethal neonatal Hutchinson-Gilford progeria syndrome.</strong>
|
|
Am. J. Med. Genet. 82: 242-248, 1999.
|
|
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|
|
[PubMed: 10215548]
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|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Writzl, K., Maver, A., Kovacic, L. Martinez-Valero, P., Contreras, L., Satrustegui, J., Castori, M., Faivre, L., Lapunzina, P., van Kuilenburg, A. B. P., Radovic, S., Thauvin-Robinet, C., Peterlin, B., del Arco, A., Hennekam, R. C.
|
|
<strong>De novo mutations in SLC25A24 cause a disorder characterized by early aging, bone dysplasia, characteristic face, and early demise.</strong>
|
|
Am. J. Hum Genet. 101: 844-855, 2017.
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|
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|
|
[PubMed: 29100094]
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|
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[Full Text: https://doi.org/10.1016/j.ajhg.2017.09.017]
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</p>
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|
</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 01/26/2018
|
|
</span>
|
|
</div>
|
|
</div>
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|
</div>
|
|
<div>
|
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<br />
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|
</div>
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