3114 lines
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Entry
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- *611224 - SUCCINATE-CoA LIGASE, GDP/ADP-FORMING, SUBUNIT ALPHA; SUCLG1
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- OMIM
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<p>
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<span class="h4">*611224</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/611224">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div id="mimExternalLinksFold" class="collapse in">
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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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</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=ENSG00000163541;t=ENST00000393868" 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=8802" 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=611224" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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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=ENSG00000163541;t=ENST00000393868" 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_003849" 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_003849" 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=611224" 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=18128&isoform_id=18128_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/SUCLG1" 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/1122286,9409794,12653465,48146395,62988720,109452591,119619964,158255600,189053840,221041494,223634731,2270220005" 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/P53597" 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 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=8802" 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=ENSG00000163541;t=ENST00000393868" 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=SUCLG1" 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=SUCLG1" 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+8802" 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/SUCLG1" 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:8802" 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/8802" 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=chr2&hgg_gene=ENST00000393868.7&hgg_start=84423528&hgg_end=84459280&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11449" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:11449" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/suclg1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611224[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=611224[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000163541" 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=SUCLG1" 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=SUCLG1" 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=SUCLG1" 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=SUCLG1&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/PA36246" 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:11449" 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/FBgn0004888.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:1927234" 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/SUCLG1#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:1927234" 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/8802/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=8802" 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=WBGene00007350;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00007350 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00017759;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00017759 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-040912-101" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8802" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=SUCLG1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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611224
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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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SUCCINATE-CoA LIGASE, GDP/ADP-FORMING, SUBUNIT ALPHA; SUCLG1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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SUCCINATE-CoA LIGASE, GDP-FORMING, ALPHA SUBUNIT<br />
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SUCCINATE-CoA LIGASE, ADP-FORMING, ALPHA SUBUNIT; SUCLA1<br />
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SUCCINYL-CoA SYNTHETASE, ALPHA SUBUNIT<br />
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G-ALPHA
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SUCLG1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SUCLG1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/2/413?start=-3&limit=10&highlight=413">2p11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:84423528-84459280&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'})">2:84,423,528-84,459,280</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
|
Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/2/413?start=-3&limit=10&highlight=413">
|
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2p11.2
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/245400"> 245400 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/611224" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/611224" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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<p>The SUCLG1 gene encodes the alpha subunit of mitochondrial succinyl CoA synthetase (<a href="https://enzyme.expasy.org/EC/6.2.1.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 6.2.1.4</a>) (<a href="#3" class="mim-tip-reference" title="James, M., Man, N., Edwards, Y. H., Morris, G. E. <strong>The molecular basis for cross-reaction of an anti-dystrophin antibody with alpha-actinin.</strong> Biochim. Biophys. Acta 1360: 169-176, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9128182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9128182</a>] [<a href="https://doi.org/10.1016/s0925-4439(96)00076-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9128182">James et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9128182" 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="James, M., Man, N., Edwards, Y. H., Morris, G. E. <strong>The molecular basis for cross-reaction of an anti-dystrophin antibody with alpha-actinin.</strong> Biochim. Biophys. Acta 1360: 169-176, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9128182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9128182</a>] [<a href="https://doi.org/10.1016/s0925-4439(96)00076-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9128182">James et al. (1997)</a> obtained a partial cDNA for SUCLG1. The first 27 amino acids of SUCLG1 are a mitochondrial targeting sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9128182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 5/29/2015."None>Gross (2015)</a> mapped the SUCLG1 gene to chromosome 2p11.2 based on an alignment of the SUCLG1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF104921" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF104921</a>) with the genomic sequence (GRCh38).</p>
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<p>The alpha subunit of SUCL forms a heterodimer with either of its beta subunits encoded by SUCLA2 (<a href="/entry/603921">603921</a>) and SUCLG2 (<a href="/entry/603922">603922</a>), resulting in an ATP/ADP-specific SUCL (A-SUCL) and a GTP/GDP-specific SUCL (G-SUCL). A-SUCL and G-SUCL are located in the mitochondrial matrix, and it is likely that they both catalyze substrate-level phosphorylation in the Krebs cycle (<a href="#4" class="mim-tip-reference" title="Ostergaard, E., Christensen, E., Kristensen, E., Mogensen, B., Duno, M., Shoubridge, E. A., Wibrand, F. <strong>Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.</strong> Am. J. Hum. Genet. 81: 383-387, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17668387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17668387</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17668387[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/10.1086/519222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17668387">Ostergaard et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17668387" 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 affected members of a consanguineous Pakistani family with autosomal recessive mitochondrial DNA depletion syndrome-9 (MTDPS9; <a href="/entry/245400">245400</a>), manifest as encephalomyopathy with methylmalonic aciduria, <a href="#4" class="mim-tip-reference" title="Ostergaard, E., Christensen, E., Kristensen, E., Mogensen, B., Duno, M., Shoubridge, E. A., Wibrand, F. <strong>Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.</strong> Am. J. Hum. Genet. 81: 383-387, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17668387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17668387</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17668387[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/10.1086/519222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17668387">Ostergaard et al. (2007)</a> identified a homozygous truncating mutation in the SUCLG1 gene (<a href="#0001">611224.0001</a>). <a href="#4" class="mim-tip-reference" title="Ostergaard, E., Christensen, E., Kristensen, E., Mogensen, B., Duno, M., Shoubridge, E. A., Wibrand, F. <strong>Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.</strong> Am. J. Hum. Genet. 81: 383-387, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17668387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17668387</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17668387[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/10.1086/519222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17668387">Ostergaard et al. (2007)</a> hypothesized that the mtDNA depletion was likely explained by decreased mitochondrial nucleoside diphosphate kinase (NDPK) activity resulting from the inability of NDPK to form a complex with SUCL. The patients with SUCLG1 mutations had an exceedingly severe phenotype compared to those with SUCLA2 mutations (MTDPS5; <a href="/entry/612073">612073</a>). <a href="#4" class="mim-tip-reference" title="Ostergaard, E., Christensen, E., Kristensen, E., Mogensen, B., Duno, M., Shoubridge, E. A., Wibrand, F. <strong>Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.</strong> Am. J. Hum. Genet. 81: 383-387, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17668387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17668387</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17668387[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/10.1086/519222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17668387">Ostergaard et al. (2007)</a> concluded that the much more severe disorder in patients with SUCLG1 mutations was likely caused by the complete absence of both A-SUCL and G-SUCL, whereas the milder phenotype of patients with SUCLA2 mutations may be explained by the presence of functional G-SUCL. One of the reasons <a href="#4" class="mim-tip-reference" title="Ostergaard, E., Christensen, E., Kristensen, E., Mogensen, B., Duno, M., Shoubridge, E. A., Wibrand, F. <strong>Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.</strong> Am. J. Hum. Genet. 81: 383-387, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17668387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17668387</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17668387[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/10.1086/519222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17668387">Ostergaard et al. (2007)</a> considered SUCLG1 a candidate gene for fatal infantile lactic acidosis (see <a href="/entry/245400">245400</a>) was the excretion of methylmalonate and methylcitrate in these patients, similar to that found in patients with SUCLA2 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17668387" 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 patients with mtDNA depletion syndrome-9 and methylmalonic aciduria, <a href="#5" class="mim-tip-reference" title="Ostergaard, E., Schwartz, M., Batbayli, M., Christensen, E., Hjalmarson, O., Kollberg, G., Holme, E. <strong>A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.</strong> Europ. J. Pediat. 169: 201-205, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19526370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19526370</a>] [<a href="https://doi.org/10.1007/s00431-009-1007-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19526370">Ostergaard et al. (2010)</a> and <a href="#6" class="mim-tip-reference" title="Rouzier, C., Le Guedard-Mereuze, S., Fragaki, K., Serre, V., Miro, J., Tuffery-Giraud, S., Chaussenot, A., Bannwarth, S., Caruba, C., Ostergaard, E., Pellissier, J.-F., Richelme, C., Espil, C., Chabrol, B., Paquis-Flucklinger, V. <strong>The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.</strong> J. Med. Genet. 47: 670-676, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20693550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20693550</a>] [<a href="https://doi.org/10.1136/jmg.2009.073445" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20693550">Rouzier et al. (2010)</a> identified homozygous or compound heterozygous mutations in the SUCLG1 gene (<a href="#0002">611224.0002</a>-<a href="#0005">611224.0005</a>). One patient with a slightly milder phenotype and survival to age 12 years was heterozygous for a truncating mutation and had some residual enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19526370+20693550" 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 female child with MTDPS9, <a href="#1" class="mim-tip-reference" title="Chinopoulos, C., Batzios, S., van den Heuvel, L. P., Rodenburg, R., Smeets, R., Waterham, H. R., Turkenburg, M., Ruiter, J. P., Wanders, R. J. A., Doczi, J., Horvath, G., Dobolyi, A., Vargiami, E., Wevers, R. A., Zafeiriou, D. <strong>Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.</strong> Molec. Genet. Metab. 126: 43-52, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30470562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30470562</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.11.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30470562">Chinopoulos et al. (2019)</a> identified a mutation in the SUCLG1 gene (A209E; <a href="#0006">611224.0006</a>) that was heterozygous at the genomic DNA level but homozygous at the transcriptional level. The mutation, which was found by Sanger sequencing, was present in heterozygous state in the father; an unknown ovary donor had been used for in vitro fertilization. Testing in patient fibroblasts showed absence of detectable SUCLG1 protein and decreased mitochondrial substrate-level phosphorylation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30470562" 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">rs1308442327 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1308442327;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=rs1308442327" 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=rs1308442327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a consanguineous Pakistani family with mitochondrial DNA depletion syndrome-9, manifest as encephalomyopathy with methylmalonic aciduria (MTDPS9; <a href="/entry/245400">245400</a>), <a href="#4" class="mim-tip-reference" title="Ostergaard, E., Christensen, E., Kristensen, E., Mogensen, B., Duno, M., Shoubridge, E. A., Wibrand, F. <strong>Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.</strong> Am. J. Hum. Genet. 81: 383-387, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17668387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17668387</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17668387[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/10.1086/519222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17668387">Ostergaard et al. (2007)</a> detected a homozygous deletion of 2 basepairs in exon 2 of the SUCLG1 gene, 113_114delAT. The mutation led to frameshift and a premature stop codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17668387" 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 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267607097 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607097;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs267607097?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267607097" 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=rs267607097" 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=RCV000001040" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001040" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001040</a>
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<p>In a Swedish patient with mitochondrial DNA depletion syndrome-9, manifest as encephalomyopathy with methylmalonic aciduria (MTDPS9; <a href="/entry/245400">245400</a>), <a href="#5" class="mim-tip-reference" title="Ostergaard, E., Schwartz, M., Batbayli, M., Christensen, E., Hjalmarson, O., Kollberg, G., Holme, E. <strong>A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.</strong> Europ. J. Pediat. 169: 201-205, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19526370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19526370</a>] [<a href="https://doi.org/10.1007/s00431-009-1007-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19526370">Ostergaard et al. (2010)</a> identified a homozygous 215G-C transversion in exon 3 of the SUCLG1 gene, resulting in a gly72-to-ala (G72A) substitution. Each unaffected parent was heterozygous for the mutation, which was not found in 72 controls. The patient presented at age 6 months with failure to thrive, severe axial hypotonia, and lactic acidosis. He showed delayed psychomotor development and died just before age 3 years from metabolic acidosis following a gastrointestinal infection. Western blot analysis showed a severely decreased amount of SUCLG1 in patient fibroblasts. Muscle studies showed moderate mtDNA depletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19526370" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607099 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607099;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=rs267607099" 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=rs267607099" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with encephalomyopathic mitochondrial DNA depletion syndrome-9 with methylmalonic aciduria (MTDPS9; <a href="/entry/245400">245400</a>), <a href="#6" class="mim-tip-reference" title="Rouzier, C., Le Guedard-Mereuze, S., Fragaki, K., Serre, V., Miro, J., Tuffery-Giraud, S., Chaussenot, A., Bannwarth, S., Caruba, C., Ostergaard, E., Pellissier, J.-F., Richelme, C., Espil, C., Chabrol, B., Paquis-Flucklinger, V. <strong>The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.</strong> J. Med. Genet. 47: 670-676, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20693550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20693550</a>] [<a href="https://doi.org/10.1136/jmg.2009.073445" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20693550">Rouzier et al. (2010)</a> identified compound heterozygosity for 2 mutations in the SUCLG1 gene: a 509C-G transversion resulting in a pro170-to-arg (P170R) substitution in the CoA ligase domain, and a G-to-C transversion in intron 1, resulting in a splice site mutation and the skipping of exon 1 (<a href="#0004">611224.0004</a>). The relative mtDNA amount in muscle was 11% of controls, indicating severe mtDNA depletion. Western blot analysis showed complete absence of the SUCLG1 and the SUCLA2 (<a href="/entry/603921">603921</a>) proteins in patient fibroblasts. These results were consistent with a destabilization of SUCLA2 in the absence of its heterodimer partner SUCLG1. The patient presented at birth with severe axial hypotonia and lactic acidosis. He had delayed psychomotor development and recurrent episodes of acidosis, leading to death at age 1 year. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20693550" 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>.0004 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs786205871 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205871;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs786205871?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs786205871" 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=rs786205871" 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=RCV000001042" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001042" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001042</a>
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<p>For discussion of the splice site mutation in the SUCLG1 gene that was found in compound heterozygous state in a patient with encephalomyopathic mitochondrial DNA depletion syndrome-9 with methylmalonic aciduria (MTDPS9; <a href="/entry/245400">245400</a>) by <a href="#6" class="mim-tip-reference" title="Rouzier, C., Le Guedard-Mereuze, S., Fragaki, K., Serre, V., Miro, J., Tuffery-Giraud, S., Chaussenot, A., Bannwarth, S., Caruba, C., Ostergaard, E., Pellissier, J.-F., Richelme, C., Espil, C., Chabrol, B., Paquis-Flucklinger, V. <strong>The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.</strong> J. Med. Genet. 47: 670-676, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20693550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20693550</a>] [<a href="https://doi.org/10.1136/jmg.2009.073445" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20693550">Rouzier et al. (2010)</a>, see <a href="#0003">611224.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20693550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267607098 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607098;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs267607098?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267607098" 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=rs267607098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with encephalomyopathic mitochondrial DNA depletion syndrome-9 with methylmalonic aciduria (MTDPS9; <a href="/entry/245400">245400</a>), <a href="#6" class="mim-tip-reference" title="Rouzier, C., Le Guedard-Mereuze, S., Fragaki, K., Serre, V., Miro, J., Tuffery-Giraud, S., Chaussenot, A., Bannwarth, S., Caruba, C., Ostergaard, E., Pellissier, J.-F., Richelme, C., Espil, C., Chabrol, B., Paquis-Flucklinger, V. <strong>The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.</strong> J. Med. Genet. 47: 670-676, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20693550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20693550</a>] [<a href="https://doi.org/10.1136/jmg.2009.073445" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20693550">Rouzier et al. (2010)</a> identified a heterozygous 448C-T transition in the SUCLG1 gene, resulting in a gln150-to-ter (Q150X) substitution. A second mutation was not identified, but immunoblot analysis showed decreased amounts of both the SUCLG1 and SUCLA2 proteins in patient fibroblasts compared to controls. These results were consistent with a destabilization of SUCLA2. Although the patient had severe hypotonia, lactic acidosis, and mental retardation, he presented at age 3 months after a period of normal development and was still alive at age 12 years. Skeletal muscle biopsy showed markedly reduced activities for respiratory complexes I and IV, and severe mtDNA depletion (18% of controls). <a href="#6" class="mim-tip-reference" title="Rouzier, C., Le Guedard-Mereuze, S., Fragaki, K., Serre, V., Miro, J., Tuffery-Giraud, S., Chaussenot, A., Bannwarth, S., Caruba, C., Ostergaard, E., Pellissier, J.-F., Richelme, C., Espil, C., Chabrol, B., Paquis-Flucklinger, V. <strong>The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.</strong> J. Med. Genet. 47: 670-676, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20693550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20693550</a>] [<a href="https://doi.org/10.1136/jmg.2009.073445" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20693550">Rouzier et al. (2010)</a> concluded that the slightly milder phenotype in this patient was due to some residual enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20693550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)</strong>
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SUCLG1, ALA209GLU
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001281585 OR RCV001507287" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001281585, RCV001507287" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001281585...</a>
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<p>In a female child with encephalomyopathic mitochondrial DNA depletion syndrome-9 (MTDPS9; <a href="/entry/245400">245400</a>), <a href="#1" class="mim-tip-reference" title="Chinopoulos, C., Batzios, S., van den Heuvel, L. P., Rodenburg, R., Smeets, R., Waterham, H. R., Turkenburg, M., Ruiter, J. P., Wanders, R. J. A., Doczi, J., Horvath, G., Dobolyi, A., Vargiami, E., Wevers, R. A., Zafeiriou, D. <strong>Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.</strong> Molec. Genet. Metab. 126: 43-52, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30470562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30470562</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.11.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30470562">Chinopoulos et al. (2019)</a> identified a c.626C-A transversion in exon 6 of the SUCLG1 gene, resulting in an ala209-to-glu (A209E) substitution at a highly conserved residue; the mutation was heterozygous at the genomic DNA level but homozygous at the transcriptional level. The mutation, which was identified by Sanger sequencing, was present in heterozygous state in the father; a foreign over ovary donor was used for in vitro fertilization. The allele frequency of the mutation in the ExAC database was 0.0000083. Analysis of cDNA from the patient showed that SUCLG1 with the A209E had homozygous expression, although no second mutation was identified. Testing in patient fibroblasts showed no detectable SUCLG1 protein and decreased mitochondrial substrate-level phosphorylation, consistent with SUCLG1 deficiency. Protein expression of SUCLG2 and SUCLA2 were also decreased in patient fibroblasts, and confocal imaging showed partial mislocalization of SUCLG2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30470562" 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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Chinopoulos, C., Batzios, S., van den Heuvel, L. P., Rodenburg, R., Smeets, R., Waterham, H. R., Turkenburg, M., Ruiter, J. P., Wanders, R. J. A., Doczi, J., Horvath, G., Dobolyi, A., Vargiami, E., Wevers, R. A., Zafeiriou, D.
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<strong>Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.</strong>
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Molec. Genet. Metab. 126: 43-52, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30470562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30470562</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30470562" 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.ymgme.2018.11.009" target="_blank">Full Text</a>]
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 5/29/2015.
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James, M., Man, N., Edwards, Y. H., Morris, G. E.
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<strong>The molecular basis for cross-reaction of an anti-dystrophin antibody with alpha-actinin.</strong>
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Biochim. Biophys. Acta 1360: 169-176, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9128182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9128182</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9128182" 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/s0925-4439(96)00076-2" target="_blank">Full Text</a>]
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Ostergaard, E., Christensen, E., Kristensen, E., Mogensen, B., Duno, M., Shoubridge, E. A., Wibrand, F.
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<strong>Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.</strong>
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Am. J. Hum. Genet. 81: 383-387, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17668387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17668387</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17668387[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=17668387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/519222" target="_blank">Full Text</a>]
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Ostergaard, E., Schwartz, M., Batbayli, M., Christensen, E., Hjalmarson, O., Kollberg, G., Holme, E.
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<strong>A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.</strong>
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Europ. J. Pediat. 169: 201-205, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19526370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19526370</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19526370" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00431-009-1007-z" target="_blank">Full Text</a>]
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Rouzier, C., Le Guedard-Mereuze, S., Fragaki, K., Serre, V., Miro, J., Tuffery-Giraud, S., Chaussenot, A., Bannwarth, S., Caruba, C., Ostergaard, E., Pellissier, J.-F., Richelme, C., Espil, C., Chabrol, B., Paquis-Flucklinger, V.
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<strong>The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.</strong>
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J. Med. Genet. 47: 670-676, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20693550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20693550</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20693550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2009.073445" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 06/07/2021
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<span class="mim-text-font">
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Matthew B. Gross - updated : 05/29/2015<br>Cassandra L. Kniffin - updated : 11/22/2010<br>Victor A. McKusick - updated : 8/16/2007
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<span class="mim-text-font">
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Patricia A. Hartz : 7/18/2007
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mgross : 04/17/2024
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alopez : 04/17/2024<br>carol : 06/07/2021<br>mgross : 05/29/2015<br>mcolton : 5/8/2015<br>carol : 12/5/2011<br>terry : 1/25/2011<br>carol : 12/21/2010<br>ckniffin : 12/9/2010<br>wwang : 12/6/2010<br>ckniffin : 11/22/2010<br>alopez : 11/12/2007<br>alopez : 8/21/2007<br>terry : 8/16/2007<br>mgross : 7/18/2007
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<strong>*</strong> 611224
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SUCCINATE-CoA LIGASE, GDP/ADP-FORMING, SUBUNIT ALPHA; SUCLG1
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<em>Alternative titles; symbols</em>
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SUCCINATE-CoA LIGASE, GDP-FORMING, ALPHA SUBUNIT<br />
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SUCCINATE-CoA LIGASE, ADP-FORMING, ALPHA SUBUNIT; SUCLA1<br />
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SUCCINYL-CoA SYNTHETASE, ALPHA SUBUNIT<br />
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G-ALPHA
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<strong><em>HGNC Approved Gene Symbol: SUCLG1</em></strong>
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Cytogenetic location: 2p11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:84,423,528-84,459,280 </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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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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2p11.2
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Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
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<span class="mim-font">
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245400
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>The SUCLG1 gene encodes the alpha subunit of mitochondrial succinyl CoA synthetase (EC 6.2.1.4) (James et al., 1997). </p>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>James et al. (1997) obtained a partial cDNA for SUCLG1. The first 27 amino acids of SUCLG1 are a mitochondrial targeting sequence. </p>
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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>Gross (2015) mapped the SUCLG1 gene to chromosome 2p11.2 based on an alignment of the SUCLG1 sequence (GenBank AF104921) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The alpha subunit of SUCL forms a heterodimer with either of its beta subunits encoded by SUCLA2 (603921) and SUCLG2 (603922), resulting in an ATP/ADP-specific SUCL (A-SUCL) and a GTP/GDP-specific SUCL (G-SUCL). A-SUCL and G-SUCL are located in the mitochondrial matrix, and it is likely that they both catalyze substrate-level phosphorylation in the Krebs cycle (Ostergaard et al., 2007). </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 affected members of a consanguineous Pakistani family with autosomal recessive mitochondrial DNA depletion syndrome-9 (MTDPS9; 245400), manifest as encephalomyopathy with methylmalonic aciduria, Ostergaard et al. (2007) identified a homozygous truncating mutation in the SUCLG1 gene (611224.0001). Ostergaard et al. (2007) hypothesized that the mtDNA depletion was likely explained by decreased mitochondrial nucleoside diphosphate kinase (NDPK) activity resulting from the inability of NDPK to form a complex with SUCL. The patients with SUCLG1 mutations had an exceedingly severe phenotype compared to those with SUCLA2 mutations (MTDPS5; 612073). Ostergaard et al. (2007) concluded that the much more severe disorder in patients with SUCLG1 mutations was likely caused by the complete absence of both A-SUCL and G-SUCL, whereas the milder phenotype of patients with SUCLA2 mutations may be explained by the presence of functional G-SUCL. One of the reasons Ostergaard et al. (2007) considered SUCLG1 a candidate gene for fatal infantile lactic acidosis (see 245400) was the excretion of methylmalonate and methylcitrate in these patients, similar to that found in patients with SUCLA2 mutations. </p><p>In 3 unrelated patients with mtDNA depletion syndrome-9 and methylmalonic aciduria, Ostergaard et al. (2010) and Rouzier et al. (2010) identified homozygous or compound heterozygous mutations in the SUCLG1 gene (611224.0002-611224.0005). One patient with a slightly milder phenotype and survival to age 12 years was heterozygous for a truncating mutation and had some residual enzyme activity. </p><p>In a female child with MTDPS9, Chinopoulos et al. (2019) identified a mutation in the SUCLG1 gene (A209E; 611224.0006) that was heterozygous at the genomic DNA level but homozygous at the transcriptional level. The mutation, which was found by Sanger sequencing, was present in heterozygous state in the father; an unknown ovary donor had been used for in vitro fertilization. Testing in patient fibroblasts showed absence of detectable SUCLG1 protein and decreased mitochondrial substrate-level phosphorylation. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SUCLG1, 2-BP DEL, 113AT
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<br />
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SNP: rs1308442327,
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ClinVar: RCV000779337
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a consanguineous Pakistani family with mitochondrial DNA depletion syndrome-9, manifest as encephalomyopathy with methylmalonic aciduria (MTDPS9; 245400), Ostergaard et al. (2007) detected a homozygous deletion of 2 basepairs in exon 2 of the SUCLG1 gene, 113_114delAT. The mutation led to frameshift and a premature stop codon. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SUCLG1, GLY72ALA
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<br />
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SNP: rs267607097,
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gnomAD: rs267607097,
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ClinVar: RCV000001040
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Swedish patient with mitochondrial DNA depletion syndrome-9, manifest as encephalomyopathy with methylmalonic aciduria (MTDPS9; 245400), Ostergaard et al. (2010) identified a homozygous 215G-C transversion in exon 3 of the SUCLG1 gene, resulting in a gly72-to-ala (G72A) substitution. Each unaffected parent was heterozygous for the mutation, which was not found in 72 controls. The patient presented at age 6 months with failure to thrive, severe axial hypotonia, and lactic acidosis. He showed delayed psychomotor development and died just before age 3 years from metabolic acidosis following a gastrointestinal infection. Western blot analysis showed a severely decreased amount of SUCLG1 in patient fibroblasts. Muscle studies showed moderate mtDNA depletion. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0003 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)</strong>
|
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</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SUCLG1, PRO170ARG
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<br />
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SNP: rs267607099,
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ClinVar: RCV000001041
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with encephalomyopathic mitochondrial DNA depletion syndrome-9 with methylmalonic aciduria (MTDPS9; 245400), Rouzier et al. (2010) identified compound heterozygosity for 2 mutations in the SUCLG1 gene: a 509C-G transversion resulting in a pro170-to-arg (P170R) substitution in the CoA ligase domain, and a G-to-C transversion in intron 1, resulting in a splice site mutation and the skipping of exon 1 (611224.0004). The relative mtDNA amount in muscle was 11% of controls, indicating severe mtDNA depletion. Western blot analysis showed complete absence of the SUCLG1 and the SUCLA2 (603921) proteins in patient fibroblasts. These results were consistent with a destabilization of SUCLA2 in the absence of its heterodimer partner SUCLG1. The patient presented at birth with severe axial hypotonia and lactic acidosis. He had delayed psychomotor development and recurrent episodes of acidosis, leading to death at age 1 year. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0004 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)</strong>
|
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</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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SUCLG1, IVS1DS, G-C, +3
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<br />
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|
SNP: rs786205871,
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|
|
gnomAD: rs786205871,
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|
|
ClinVar: RCV000001042
|
|
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|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the SUCLG1 gene that was found in compound heterozygous state in a patient with encephalomyopathic mitochondrial DNA depletion syndrome-9 with methylmalonic aciduria (MTDPS9; 245400) by Rouzier et al. (2010), see 611224.0003. </p>
|
|
</span>
|
|
</div>
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|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUCLG1, GLN150TER
|
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|
|
|
<br />
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|
|
SNP: rs267607098,
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|
|
|
|
|
gnomAD: rs267607098,
|
|
|
|
|
|
ClinVar: RCV000001043
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with encephalomyopathic mitochondrial DNA depletion syndrome-9 with methylmalonic aciduria (MTDPS9; 245400), Rouzier et al. (2010) identified a heterozygous 448C-T transition in the SUCLG1 gene, resulting in a gln150-to-ter (Q150X) substitution. A second mutation was not identified, but immunoblot analysis showed decreased amounts of both the SUCLG1 and SUCLA2 proteins in patient fibroblasts compared to controls. These results were consistent with a destabilization of SUCLA2. Although the patient had severe hypotonia, lactic acidosis, and mental retardation, he presented at age 3 months after a period of normal development and was still alive at age 12 years. Skeletal muscle biopsy showed markedly reduced activities for respiratory complexes I and IV, and severe mtDNA depletion (18% of controls). Rouzier et al. (2010) concluded that the slightly milder phenotype in this patient was due to some residual enzyme activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUCLG1, ALA209GLU
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV001281585, RCV001507287
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female child with encephalomyopathic mitochondrial DNA depletion syndrome-9 (MTDPS9; 245400), Chinopoulos et al. (2019) identified a c.626C-A transversion in exon 6 of the SUCLG1 gene, resulting in an ala209-to-glu (A209E) substitution at a highly conserved residue; the mutation was heterozygous at the genomic DNA level but homozygous at the transcriptional level. The mutation, which was identified by Sanger sequencing, was present in heterozygous state in the father; a foreign over ovary donor was used for in vitro fertilization. The allele frequency of the mutation in the ExAC database was 0.0000083. Analysis of cDNA from the patient showed that SUCLG1 with the A209E had homozygous expression, although no second mutation was identified. Testing in patient fibroblasts showed no detectable SUCLG1 protein and decreased mitochondrial substrate-level phosphorylation, consistent with SUCLG1 deficiency. Protein expression of SUCLG2 and SUCLA2 were also decreased in patient fibroblasts, and confocal imaging showed partial mislocalization of SUCLG2. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
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<div>
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Chinopoulos, C., Batzios, S., van den Heuvel, L. P., Rodenburg, R., Smeets, R., Waterham, H. R., Turkenburg, M., Ruiter, J. P., Wanders, R. J. A., Doczi, J., Horvath, G., Dobolyi, A., Vargiami, E., Wevers, R. A., Zafeiriou, D.
|
|
<strong>Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.</strong>
|
|
Molec. Genet. Metab. 126: 43-52, 2019.
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[PubMed: 30470562]
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[Full Text: https://doi.org/10.1016/j.ymgme.2018.11.009]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Gross, M. B.
|
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<strong>Personal Communication.</strong>
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Baltimore, Md. 5/29/2015.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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James, M., Man, N., Edwards, Y. H., Morris, G. E.
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<strong>The molecular basis for cross-reaction of an anti-dystrophin antibody with alpha-actinin.</strong>
|
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Biochim. Biophys. Acta 1360: 169-176, 1997.
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[PubMed: 9128182]
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[Full Text: https://doi.org/10.1016/s0925-4439(96)00076-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Ostergaard, E., Christensen, E., Kristensen, E., Mogensen, B., Duno, M., Shoubridge, E. A., Wibrand, F.
|
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<strong>Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.</strong>
|
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Am. J. Hum. Genet. 81: 383-387, 2007.
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[PubMed: 17668387]
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[Full Text: https://doi.org/10.1086/519222]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Ostergaard, E., Schwartz, M., Batbayli, M., Christensen, E., Hjalmarson, O., Kollberg, G., Holme, E.
|
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<strong>A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.</strong>
|
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Europ. J. Pediat. 169: 201-205, 2010.
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[PubMed: 19526370]
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[Full Text: https://doi.org/10.1007/s00431-009-1007-z]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Rouzier, C., Le Guedard-Mereuze, S., Fragaki, K., Serre, V., Miro, J., Tuffery-Giraud, S., Chaussenot, A., Bannwarth, S., Caruba, C., Ostergaard, E., Pellissier, J.-F., Richelme, C., Espil, C., Chabrol, B., Paquis-Flucklinger, V.
|
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<strong>The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.</strong>
|
|
J. Med. Genet. 47: 670-676, 2010.
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[PubMed: 20693550]
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[Full Text: https://doi.org/10.1136/jmg.2009.073445]
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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">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Hilary J. Vernon - updated : 06/07/2021<br>Matthew B. Gross - updated : 05/29/2015<br>Cassandra L. Kniffin - updated : 11/22/2010<br>Victor A. McKusick - updated : 8/16/2007
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
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Patricia A. Hartz : 7/18/2007
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Edit History:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 04/17/2024<br>alopez : 04/17/2024<br>carol : 06/07/2021<br>mgross : 05/29/2015<br>mcolton : 5/8/2015<br>carol : 12/5/2011<br>terry : 1/25/2011<br>carol : 12/21/2010<br>ckniffin : 12/9/2010<br>wwang : 12/6/2010<br>ckniffin : 11/22/2010<br>alopez : 11/12/2007<br>alopez : 8/21/2007<br>terry : 8/16/2007<br>mgross : 7/18/2007
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