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Entry
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- *238300 - GLYCINE DECARBOXYLASE; GLDC
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*238300</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#pathogenesis">Pathogenesis</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#mapping">Mapping</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/238300">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000178445;t=ENST00000321612" 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=2731" 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=238300" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000178445;t=ENST00000321612" 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_000170" 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_000170" 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=238300" 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=01996&isoform_id=01996_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/GLDC" 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/190209,190287,219660,15187327,85566653,85567346,108773801,119579143,119579144,189054321,229462870,1102312103" 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/P23378" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=2731" 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=ENSG00000178445;t=ENST00000321612" 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=GLDC" 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=GLDC" 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+2731" 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/GLDC" 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:2731" 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/2731" 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=chr9&hgg_gene=ENST00000321612.8&hgg_start=6532467&hgg_end=6645729&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4313" 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:4313" 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/gldc" 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=238300[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=238300[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/GLDC/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000178445" 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=GLDC" 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=GLDC" 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=GLDC" 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=GLDC&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/PA28716" 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:4313" 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/FBgn0037801.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:1341155" 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/GLDC#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:1341155" 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/2731/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=2731" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00020022;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-340" 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="mimCellLines">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:238300" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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:2731" 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=GLDC&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 237939006<br />
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<strong>ICD10CM:</strong> E72.51<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
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238300
|
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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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GLYCINE DECARBOXYLASE; GLDC
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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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
GLYCINE CLEAVAGE SYSTEM P PROTEIN; GCSP<br />
|
|
GLYCINE DEHYDROGENASE
|
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</span>
|
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</h4>
|
|
</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>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GLDC" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GLDC</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/9/41?start=-3&limit=10&highlight=41">9p24.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:6532467-6645729&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'})">9:6,532,467-6,645,729</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/41?start=-3&limit=10&highlight=41">
|
|
9p24.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycine encephalopathy1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/605899"> 605899 </a>
|
|
|
|
</span>
|
|
</td>
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<p>The enzyme system for cleavage of glycine (glycine cleavage system; GCS; <a href="https://enzyme.expasy.org/EC/2.1.2.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.1.2.10</a>), which is confined to the mitochondria, is composed of 4 protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein, <a href="/entry/238330">238330</a>), T protein (a tetrahydrofolate-requiring enzyme, <a href="/entry/238310">238310</a>), and L protein (a lipoamide dehydrogenase, <a href="/entry/238331">238331</a>).</p>
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<p><a href="#12" class="mim-tip-reference" title="Kume, A., Koyata, H., Sakakibara, T., Ishiguro, Y., Kure, S., Hiraga, K. <strong>The glycine cleavage system: molecular cloning of the chicken and human glycine decarboxylase cDNAs and some characteristics involved in the deduced protein structures.</strong> J. Biol. Chem. 266: 3323-3329, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1993704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1993704</a>]" pmid="1993704">Kume et al. (1991)</a> cloned the cDNA encoding human glycine decarboxylase, P protein. The deduced protein contains 1,020 amino acids. By RNA blot analysis, <a href="#21" class="mim-tip-reference" title="Takayanagi, M., Kure, S., Sakata, Y., Kurihara, Y., Ohya, Y., Kajita, M., Tada, K., Matsubara, Y., Narisawa, K. <strong>Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psi-GLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia.</strong> Hum. Genet. 106: 298-305, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10798358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10798358</a>] [<a href="https://doi.org/10.1007/s004390051041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10798358">Takayanagi et al. (2000)</a> demonstrated that GLDC is expressed in human liver, kidney, brain, and placenta. By dot-blot analysis, <a href="#14" class="mim-tip-reference" title="Kure, S., Kojima, K., Kudo, T., Kanno, K., Aoki, Y., Suzuki, Y., Shinka, T., Sakata, Y., Narisawa, K., Matsubara, Y. <strong>Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.</strong> J. Hum. Genet. 46: 378-384, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11450847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11450847</a>] [<a href="https://doi.org/10.1007/s100380170057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11450847">Kure et al. (2001)</a> detected expression of GLDC in a limited number of tissues with strong expression in liver, placenta, and kidney; moderate expression in brain, small intestine, thyroid gland, and pituitary gland; and weak expression in colon, bladder, and lung. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11450847+10798358+1993704" 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="#21" class="mim-tip-reference" title="Takayanagi, M., Kure, S., Sakata, Y., Kurihara, Y., Ohya, Y., Kajita, M., Tada, K., Matsubara, Y., Narisawa, K. <strong>Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psi-GLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia.</strong> Hum. Genet. 106: 298-305, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10798358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10798358</a>] [<a href="https://doi.org/10.1007/s004390051041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10798358">Takayanagi et al. (2000)</a> determined the structure of the GLDC gene and its pseudogene. The GLDC gene spans at least 135 kb and contains 25 exons. All donor and acceptor sites adhered to the canonical GT-AG rule, except for the donor site of intron 21, where a variant form GC is used instead of GT. By primer extension analysis, the transcription initiation site was assigned to a residue 163 bp upstream from the translation initiation triplet. The GLDC pseudogene has no introns and shares 97.5% homology with the coding region of functional GLDC, suggesting that it is a processed pseudogene that arose from the GLDC transcript about 4 to 8 million years ago. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10798358" 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="#10" class="mim-tip-reference" title="Kim, D., Fiske, B. P., Birsoy, K., Freinkman, E., Kami, K., Possemato, R. L., Chudnovsky, Y., Pacold, M. E., Chen, W. W., Cantor, J. R., Shelton, L. M., Gui, D. Y., Kwon, M., Ramkissoon, S. H., Ligon, K. L., Kang, S. W., Snuderl, M., Vander Heiden, M. G., Sabatini, D. M. <strong>SHMT2 drives glioma cell survival in ischaemia but imposes a dependence on glycine clearance.</strong> Nature 520: 363-367, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25855294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25855294</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25855294[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/10.1038/nature14363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25855294">Kim et al. (2015)</a> identified a key role for serine and glycine metabolism in the survival of brain cancer cells within the ischemic zones of gliomas. In human glioblastoma multiforme (<a href="/entry/137800">137800</a>), SHMT2 (<a href="/entry/138450">138450</a>) and GLDC are highly expressed in the pseudopalisading cells that surround necrotic foci. <a href="#10" class="mim-tip-reference" title="Kim, D., Fiske, B. P., Birsoy, K., Freinkman, E., Kami, K., Possemato, R. L., Chudnovsky, Y., Pacold, M. E., Chen, W. W., Cantor, J. R., Shelton, L. M., Gui, D. Y., Kwon, M., Ramkissoon, S. H., Ligon, K. L., Kang, S. W., Snuderl, M., Vander Heiden, M. G., Sabatini, D. M. <strong>SHMT2 drives glioma cell survival in ischaemia but imposes a dependence on glycine clearance.</strong> Nature 520: 363-367, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25855294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25855294</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25855294[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/10.1038/nature14363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25855294">Kim et al. (2015)</a> found that SHMT2 activity limits that of PKM2 (<a href="/entry/179050">179050</a>) and reduces oxygen consumption, eliciting a metabolic state that confers a profound survival advantage to cells in poorly vascularized tumor regions. GLDC inhibition impairs cells with high SHMT2 levels, as the excess glycine not metabolized by GLDC can be converted to the toxic molecules aminoacetone and methylglyoxal. <a href="#10" class="mim-tip-reference" title="Kim, D., Fiske, B. P., Birsoy, K., Freinkman, E., Kami, K., Possemato, R. L., Chudnovsky, Y., Pacold, M. E., Chen, W. W., Cantor, J. R., Shelton, L. M., Gui, D. Y., Kwon, M., Ramkissoon, S. H., Ligon, K. L., Kang, S. W., Snuderl, M., Vander Heiden, M. G., Sabatini, D. M. <strong>SHMT2 drives glioma cell survival in ischaemia but imposes a dependence on glycine clearance.</strong> Nature 520: 363-367, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25855294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25855294</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25855294[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/10.1038/nature14363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25855294">Kim et al. (2015)</a> concluded that SHMT2, which is required for cancer cells to adapt to the tumor environment, also renders these cells sensitive to glycine cleavage system inhibition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25855294" 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="Bodkin, J. A., Coleman, M. J., Godfrey, L. J., Carvalho, C. M. B., Morgan, C. J., Suckow, R. F., Anderson, T., Ongur, D., Kaufman, M. J., Lewandowski, K. E., Siegel, A. J., Waldstreicher, E., and 19 others. <strong>Targeted treatment of individuals with psychosis carrying a copy number variant containing a genomic triplication of the glycine decarboxylase gene.</strong> Biol. Psychiat. 86: 523-535, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31279534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31279534</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31279534[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.biopsych.2019.04.031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31279534">Bodkin et al. (2019)</a> conducted a proof-of-principle clinical trial on a mother and son with a complex rearrangement of chromosome 9p24 that included triplication of the GLDC gene (<a href="#8" class="mim-tip-reference" title="Grochowski, C. M., Gu, S., Yuan, B., TCW, J., Brennand, K. J., Sebat, J., Malhotra, D., McCarthy, S., Rudolph, U., Lindstrand, A., Chong, Z., Levy, D. L., Lupski, J. R., Carvalho, C. M. B. <strong>Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.</strong> Hum. Mutat. 39: 939-946, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29696747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29696747</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29696747[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/10.1002/humu.23537" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29696747">Grochowski et al., 2018</a>). The mother had been diagnosed with bipolar disorder with psychotic features, and the son with schizoaffective disorder. As triplication of GLDC could be expected to result in low levels of brain glycine and D-serine, causing hypofunctioning of the NMDAR receptor channel, <a href="#3" class="mim-tip-reference" title="Bodkin, J. A., Coleman, M. J., Godfrey, L. J., Carvalho, C. M. B., Morgan, C. J., Suckow, R. F., Anderson, T., Ongur, D., Kaufman, M. J., Lewandowski, K. E., Siegel, A. J., Waldstreicher, E., and 19 others. <strong>Targeted treatment of individuals with psychosis carrying a copy number variant containing a genomic triplication of the glycine decarboxylase gene.</strong> Biol. Psychiat. 86: 523-535, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31279534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31279534</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31279534[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.biopsych.2019.04.031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31279534">Bodkin et al. (2019)</a> undertook the trial to determine whether augmentation of usual psychotropic drug treatment with glycine, a full agonist at the NMDAR glycine modulatory site (GMS), reduced psychotic and mood symptoms in these 2 carriers. <a href="#3" class="mim-tip-reference" title="Bodkin, J. A., Coleman, M. J., Godfrey, L. J., Carvalho, C. M. B., Morgan, C. J., Suckow, R. F., Anderson, T., Ongur, D., Kaufman, M. J., Lewandowski, K. E., Siegel, A. J., Waldstreicher, E., and 19 others. <strong>Targeted treatment of individuals with psychosis carrying a copy number variant containing a genomic triplication of the glycine decarboxylase gene.</strong> Biol. Psychiat. 86: 523-535, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31279534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31279534</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31279534[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.biopsych.2019.04.031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31279534">Bodkin et al. (2019)</a> performed 2 double-blind placebo-controlled trials in both patients, keeping all other psychotropic medications stable throughout the 6-week trials: one of supplemental glycine at a target dose of 0.8 gm/kg/day, and one of D-cycloserine. Both agents resulted in improved psychotic and mood symptoms in both patients. Glycine dosing at the proposed level was not well tolerated, but was well tolerated and effective at 0.6 gm/kg/day. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=31279534+29696747" 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 high frequency of glycine encephalopathy (GCE1; <a href="/entry/605899">605899</a>) has been found in some counties of Finland (<a href="#26" class="mim-tip-reference" title="von Wendt, L., Simila, S. <strong>Nonketotic hyperglycinemia (NKH). In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders.</strong> New York: Academic Press (pub.) 1980. Pp. 652-655."None>von Wendt and Simila, 1980</a>). In 13 heterozygotes in Finland, <a href="#24" class="mim-tip-reference" title="von Wendt, L., Alanko, H., Sorri, M., Toivakka, E., Saukkonen, A.-L., Simila, S. <strong>Clinical and neurophysiological findings in heterozygotes for nonketotic hyperglycinemia.</strong> Clin. Genet. 19: 94-100, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7471513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7471513</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1981.tb00677.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7471513">von Wendt et al. (1981)</a> found minor dysfunctions of the central nervous system which they suggested may be due to a slightly abnormal degradation of glycine (which has a neurotransmitter role). In a patient with GCE, <a href="#17" class="mim-tip-reference" title="Kure, S., Takayanagi, M., Narisawa, K., Tada, K., Leisti, J. <strong>Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.</strong> J. Clin. Invest. 90: 160-164, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634607</a>] [<a href="https://doi.org/10.1172/JCI115831" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1634607">Kure et al. (1992)</a> identified homozygosity for a G to T in the protein coding region of the GLDC gene, which resulted in an amino acid alteration from serine-564 to isoleucine (S564I; <a href="#0001">238300.0001</a>). <a href="#17" class="mim-tip-reference" title="Kure, S., Takayanagi, M., Narisawa, K., Tada, K., Leisti, J. <strong>Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.</strong> J. Clin. Invest. 90: 160-164, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634607</a>] [<a href="https://doi.org/10.1172/JCI115831" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1634607">Kure et al. (1992)</a> found that 14 of 20 P protein alleles in Finnish patients carried this single nucleotide substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1634607+7471513" 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>Using the GCSP cDNA as a probe in Southern blot analysis of genomic DNA from 2 patients with nonketotic hyperglycinemia, <a href="#20" class="mim-tip-reference" title="Tada, K., Kure, S., Kume, A., Hiraga, K. <strong>Genomic analysis of non-ketotic hyperglycinaemia: a partial deletion of P-protein gene.</strong> J. Inherit. Metab. Dis. 13: 766-770, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2246863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2246863</a>] [<a href="https://doi.org/10.1007/BF01799584" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2246863">Tada et al. (1990)</a> showed that they had a specific defect in P protein, namely, a partial deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2246863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Toone, J. R., Applegarth, D. A., Coulter-Mackie, M. B., James, E. R. <strong>Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.</strong> Molec. Genet. Metab. 70: 116-121, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10873393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10873393</a>] [<a href="https://doi.org/10.1006/mgme.2000.3000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10873393">Toone et al. (2000)</a> identified a recurrent mutation in the P protein, R515S (<a href="#0004">238300.0004</a>), in 2 unrelated patients with glycine encephalopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10873393" 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 patients with glycine encephalopathy, <a href="#2" class="mim-tip-reference" title="Applegarth, D. A., Toone, J. R. <strong>Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.</strong> Molec. Genet. Metab. 74: 139-146, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11592811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11592811</a>] [<a href="https://doi.org/10.1006/mgme.2001.3224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11592811">Applegarth and Toone (2001)</a> confirmed 9 mutations in the T protein (AMT; <a href="/entry/238310">238310</a>) and 8 mutations in the P protein. They also reviewed 7 cases of transient NKH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11592811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Kure, S., Kato, K., Dinopoulos, A., Gail, C., deGrauw, T. J., Christodoulou, J., Bzduch, V., Kalmanchey, R., Fekete, G., Trojovsky, A., Plecko, B., Breningstall, G., Tohyama, J., Aoki, Y., Matsubara, Y. <strong>Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.</strong> Hum. Mutat. 27: 343-352, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16450403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16450403</a>] [<a href="https://doi.org/10.1002/humu.20293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16450403">Kure et al. (2006)</a> undertook a comprehensive screening for mutations in the P, T, and H enzymes in 69 families (56, 6, and 7 families with neonatal, infantile, and late-onset type NKH, respectively). GLDC or AMT mutations were identified in 75% of neonatal and 83% of infantile families, but not in late-onset type NKH. No GCSH mutation was identified in this study. GLDC mutations were identified in 36 families, and AMT mutations were detected in 11 families. In 16 of the 36 families with GLDC mutations, mutations were identified in only 1 allele despite sequencing of the entire coding regions. The GLDC gene consists of 25 exons. Seven of the 32 GLDC missense mutations were clustered in exon 19, which encodes the cofactor-binding site lys754. A large deletion involving exon 1 of the GLDC gene was found in Caucasian, Asian, and black families. Multiple origins of the exon 1 deletion were suggested by haplotype analysis with 4 GLDC polymorphisms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16450403" 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="#5" class="mim-tip-reference" title="Burton, B. K., Pettenati, M. J., Block, S. M., Bensen, J., Roach, E. S. <strong>Nonketotic hyperglycinemia in a patient with the 9p- syndrome.</strong> Am. J. Med. Genet. 32: 504-505, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2773994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2773994</a>] [<a href="https://doi.org/10.1002/ajmg.1320320416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2773994">Burton et al. (1989)</a> observed nonketotic glycinemia in an infant with the metabolic and chromosomal features of the 9p- syndrome, leading them to suggest that a gene for nonketotic glycinemia may be located on the short arm of chromosome 9. By fluorescence in situ hybridization using genomic clones, <a href="#9" class="mim-tip-reference" title="Isobe, M., Koyata, H., Sakakibara, T., Momoi-Isobe, K., Hiraga, K. <strong>Assignment of the true and processed genes for human glycine decarboxylase to 9p23-24 and 4q12.</strong> Biochem. Biophys. Res. Commun. 203: 1483-1487, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7945295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7945295</a>] [<a href="https://doi.org/10.1006/bbrc.1994.2352" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7945295">Isobe et al. (1994)</a> assigned the functional GCSP gene to 9p24-p23 and a processed pseudogene to 4q12. <a href="#18" class="mim-tip-reference" title="Sakakibara, T., Koyata, H., Ishiguro, Y., Kure, S., Kume, A., Tada, K., Hiraga, K. <strong>One of the two genomic copies of the glycine decarboxylase cDNA has been deleted at a 5-prime region in a patient with nonketotic hyperglycinemia.</strong> Biochem. Biophys. Res. Commun. 173: 801-806, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2268343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2268343</a>] [<a href="https://doi.org/10.1016/s0006-291x(05)80858-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2268343">Sakakibara et al. (1990)</a> had found deletion of the 5-prime region of the GCSP gene in a patient with glycine encephalopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7945295+2773994+2268343" 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>Glycine encephalopathy (GCE1; <a href="/entry/605899">605899</a>) is said to have an incidence of 1 in 12,000 births in northern Finland (<a href="#25" class="mim-tip-reference" title="von Wendt, L., Hirvasniemi, A., Simila, S. <strong>Nonketotic hyperglycinemia: a genetic study of 13 Finnish families.</strong> Clin. Genet. 15: 411-417, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/445864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">445864</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1979.tb01773.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="445864">von Wendt et al., 1979</a>). <a href="#17" class="mim-tip-reference" title="Kure, S., Takayanagi, M., Narisawa, K., Tada, K., Leisti, J. <strong>Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.</strong> J. Clin. Invest. 90: 160-164, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634607</a>] [<a href="https://doi.org/10.1172/JCI115831" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1634607">Kure et al. (1992)</a> demonstrated that the defect is in the P protein and that a G-to-T mutation resulting in substitution of isoleucine for serine-564 accounts for 14 of 20 P protein alleles. Activity of P protein was undetectable in the lymphoblasts, while P protein mRNA of a normal size and level was present. The S564I mutation was found in homozygous state in 5 patients, while 4 other patients were probably compound heterozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=445864+1634607" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000049476 OR RCV004566899" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000049476, RCV004566899" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000049476...</a>
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<p>In a Japanese patient with glycine encephalopathy (GCE1; <a href="/entry/605899">605899</a>), <a href="#17" class="mim-tip-reference" title="Kure, S., Takayanagi, M., Narisawa, K., Tada, K., Leisti, J. <strong>Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.</strong> J. Clin. Invest. 90: 160-164, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634607</a>] [<a href="https://doi.org/10.1172/JCI115831" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1634607">Kure et al. (1992)</a> found deletion of phenylalanine-756 in the GLDC gene. Phe756 is located close to lys754, the binding site of pyridoxal phosphate (Kure et al. (<a href="#15" class="mim-tip-reference" title="Kure, S., Narisawa, K., Tada, K. <strong>Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia.</strong> Biochem. Biophys. Res. Commun. 174: 1176-1182, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1996985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1996985</a>] [<a href="https://doi.org/10.1016/0006-291x(91)91545-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1996985">1991</a>, <a href="#17" class="mim-tip-reference" title="Kure, S., Takayanagi, M., Narisawa, K., Tada, K., Leisti, J. <strong>Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.</strong> J. Clin. Invest. 90: 160-164, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634607</a>] [<a href="https://doi.org/10.1172/JCI115831" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1634607">1992</a>)). The deletion probably interferes with B6 binding or function. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1996985+1634607" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004566731" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004566731" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004566731</a>
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<p><a href="#21" class="mim-tip-reference" title="Takayanagi, M., Kure, S., Sakata, Y., Kurihara, Y., Ohya, Y., Kajita, M., Tada, K., Matsubara, Y., Narisawa, K. <strong>Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psi-GLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia.</strong> Hum. Genet. 106: 298-305, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10798358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10798358</a>] [<a href="https://doi.org/10.1007/s004390051041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10798358">Takayanagi et al. (2000)</a> studied a Japanese boy with glycine encephalopathy (GCE1; <a href="/entry/605899">605899</a>) of neonatal onset. The parents were not known to be related and were from the Aichi prefecture in the central area of Japan. Convulsive seizures and respiratory distress developed at 3 days of age. Administration of ketamine improved his electroencephalographic findings and hyperirritability. His psychomotor development was, however, severely delayed. He never gained head control or walked, and joint contractures developed. At 9 years of age he died of influenzal pneumonia and renal failure. An enzymatic analysis of an autopsied liver specimen revealed that he was completely deficient in GLDC activity. <a href="#21" class="mim-tip-reference" title="Takayanagi, M., Kure, S., Sakata, Y., Kurihara, Y., Ohya, Y., Kajita, M., Tada, K., Matsubara, Y., Narisawa, K. <strong>Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psi-GLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia.</strong> Hum. Genet. 106: 298-305, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10798358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10798358</a>] [<a href="https://doi.org/10.1007/s004390051041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10798358">Takayanagi et al. (2000)</a> found that exons 1-3 of the functional GLDC gene from this patient were not amplified by PCR, whereas those from control subjects were. These results suggested a large homozygous deletion (at least 30 kb) in the patient. <a href="#21" class="mim-tip-reference" title="Takayanagi, M., Kure, S., Sakata, Y., Kurihara, Y., Ohya, Y., Kajita, M., Tada, K., Matsubara, Y., Narisawa, K. <strong>Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psi-GLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia.</strong> Hum. Genet. 106: 298-305, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10798358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10798358</a>] [<a href="https://doi.org/10.1007/s004390051041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10798358">Takayanagi et al. (2000)</a> devised a semiquantitative PCR to estimate the number of GLDC alleles by using the pseudogene as an internal control and confirmed the homozygosity and heterozygosity of the deletion in the patient and his parents, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10798358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121964976 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964976;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/rs121964976?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=rs121964976" 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=rs121964976" 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=RCV000012765 OR RCV000449527 OR RCV001582476 OR RCV003398490 OR RCV004566732" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012765, RCV000449527, RCV001582476, RCV003398490, RCV004566732" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012765...</a>
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<p>In 2 patients with glycine encephalopathy (GCE1; <a href="/entry/605899">605899</a>), <a href="#22" class="mim-tip-reference" title="Toone, J. R., Applegarth, D. A., Coulter-Mackie, M. B., James, E. R. <strong>Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.</strong> Molec. Genet. Metab. 70: 116-121, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10873393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10873393</a>] [<a href="https://doi.org/10.1006/mgme.2000.3000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10873393">Toone et al. (2000)</a> identified a G-to-C transversion leading to an arg-to-ser substitution at codon 515 in the GLDC gene. This mutation was not identified in any of 100 normal alleles, and the arginine at this residue was conserved in all species for which sequence was available from human to E. coli. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10873393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Toone, J. R., Applegarth, D. A., Coulter-Mackie, M. B., James, E. R. <strong>Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).</strong> Molec. Genet. Metab. 72: 322-325, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11286506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11286506</a>] [<a href="https://doi.org/10.1006/mgme.2001.3158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11286506">Toone et al. (2001)</a> reported that the R515S mutation is present in 5% of NKH alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11286506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs386833549 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386833549;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/rs386833549?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=rs386833549" 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=rs386833549" 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=RCV000012766 OR RCV004566733" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012766, RCV004566733" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012766...</a>
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<p><a href="#2" class="mim-tip-reference" title="Applegarth, D. A., Toone, J. R. <strong>Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.</strong> Molec. Genet. Metab. 74: 139-146, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11592811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11592811</a>] [<a href="https://doi.org/10.1006/mgme.2001.3224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11592811">Applegarth and Toone (2001)</a> reported that this mutation in glycine encephalopathy (GCE1; <a href="/entry/605899">605899</a>), reported originally by <a href="#16" class="mim-tip-reference" title="Kure, S., Takayanagi, M., Kurihara, Y., Leisti, J., Zalai, D., Chuck, G., Tada, K., Matsubara, Y., Narisawa, K. <strong>Nonketotic hyperglycinemia: mutation spectra of the GLDC and AMT genes in Finnish and non-Finnish populations. (Abstract)</strong> Am. J. Hum. Genet. 65: 2406 only, 1999."None>Kure et al. (1999)</a>, is present in 8% of NKH Finnish alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11592811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121964977 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964977;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/rs121964977?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=rs121964977" 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=rs121964977" 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=RCV000012767 OR RCV004566734 OR RCV004700221" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012767, RCV004566734, RCV004700221" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012767...</a>
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<p>In 4 affected patients from 2 unrelated families with glycine encephalopathy (GCE1; <a href="/entry/605899">605899</a>), <a href="#11" class="mim-tip-reference" title="Korman, S. H., Boneh, A., Ichinohe, A., Kojima, K., Sato, K., Ergaz, Z., Gomori, J. M., Gutman, A., Kure, S. <strong>Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation.</strong> Ann. Neurol. 56: 139-143, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15236413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15236413</a>] [<a href="https://doi.org/10.1002/ana.20159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15236413">Korman et al. (2004)</a> identified a homozygous 2405C-T transition in exon 20 of the GLDC gene, resulting in an ala802-to-val (A802V) substitution at a highly conserved residue. Functional expression studies of the mutation in COS-7 cells showed that mutant protein activity was reduced to 32% of control levels. The authors noted that 32% residual activity is markedly different from the S564I mutation (<a href="#0001">238300.0001</a>), which has virtually no enzyme activity. The phenotype of the affected patients with the A802V mutation was unique: 3 patients from 1 family had complete resolution of symptoms and developed normally, whereas the fourth patient had only mild neurologic sequelae. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15236413" 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">rs121964978 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964978;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=rs121964978" 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=rs121964978" 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=RCV000012768 OR RCV004566735" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012768, RCV004566735" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012768...</a>
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<p>In 8 Arab patients with glycine encephalopathy (GCE1; <a href="/entry/605899">605899</a>), <a href="#4" class="mim-tip-reference" title="Boneh, A., Korman, S. H., Sato, K., Kanno, J., Matsubara, Y., Lerer, I., Ben-Neriah, Z., Kure, S. <strong>A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.</strong> J. Hum. Genet. 50: 230-234, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15864413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15864413</a>] [<a href="https://doi.org/10.1007/s10038-005-0243-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15864413">Boneh et al. (2005)</a> identified a homozygous T-to-C transition within the ATG methionine codon in exon 1 of the GLDC gene, resulting in a met1-to-thr (M1T) substitution within the initiation codon. All obligate carriers were heterozygous for the mutation and 122 control alleles did not have the mutation. The parents of patients in 5 of 6 families were first cousins. Studies of 2 patients showed markedly decreased GLDC mRNA levels and absence of enzyme activity. All the patients originated from an isolated population of approximately 5,000 people in a small village near Jerusalem. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15864413" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 GLYCINE ENCEPHALOPATHY 1</strong>
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GLDC, ALA389VAL
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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> rs121964979 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964979;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/rs121964979?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=rs121964979" 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=rs121964979" 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=RCV000012769 OR RCV000482511 OR RCV004566736 OR RCV004629140" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012769, RCV000482511, RCV004566736, RCV004629140" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012769...</a>
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<p>In 2 unrelated patients with a mild form of glycine encephalopathy (GCE1; <a href="/entry/605899">605899</a>), <a href="#6" class="mim-tip-reference" title="Dinopoulos, A., Kure, S., Chuck, G., Sato, K., Gilbert, D. L., Matsubara, Y., Degrauw, T. <strong>Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.</strong> Neurology 64: 1255-1257, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15824356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15824356</a>] [<a href="https://doi.org/10.1212/01.WNL.0000156800.23776.40" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15824356">Dinopoulos et al. (2005)</a> identified a homozygous 1166C-T transition in exon 9 of the GLDC gene, resulting in an ala389-to-val (A389V) substitution. Functional expression studies showed that the mutant enzyme retained 7.9% residual activity, which may explain the milder phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15824356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0009 GLYCINE ENCEPHALOPATHY 1</strong>
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GLDC, ARG739HIS
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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> rs121964980 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964980;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/rs121964980?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=rs121964980" 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=rs121964980" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012770 OR RCV001659692 OR RCV004566737" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012770, RCV001659692, RCV004566737" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012770...</a>
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<span class="mim-text-font">
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<p>In a patient with a mild form of glycine encephalopathy (GCE1; <a href="/entry/605899">605899</a>), <a href="#6" class="mim-tip-reference" title="Dinopoulos, A., Kure, S., Chuck, G., Sato, K., Gilbert, D. L., Matsubara, Y., Degrauw, T. <strong>Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.</strong> Neurology 64: 1255-1257, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15824356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15824356</a>] [<a href="https://doi.org/10.1212/01.WNL.0000156800.23776.40" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15824356">Dinopoulos et al. (2005)</a> identified a homozygous 2216A-G transition in the GLDC gene, resulting in an arg739-to-his (R739H) substitution. Functional expression studies showed that the mutant enzyme retained 6.1% residual activity, which may explain the milder phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15824356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0010" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0010 GLYCINE ENCEPHALOPATHY 1</strong>
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GLDC, 2607C-A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs386833565 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386833565;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/rs386833565?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=rs386833565" 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=rs386833565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000049493 OR RCV004566900 OR RCV004745181" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000049493, RCV004566900, RCV004745181" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000049493...</a>
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<p>In 9 affected members of a large consanguineous Israeli Bedouin kindred with atypical glycine encephalopathy (GCE1; <a href="/entry/605899">605899</a>), <a href="#7" class="mim-tip-reference" title="Flusser, H., Korman, S. H., Sato, K., Matsubara, Y., Galil, A., Kure, S. <strong>Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation.</strong> Neurology 64: 1426-1430, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15851735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15851735</a>] [<a href="https://doi.org/10.1212/01.WNL.0000158475.12907.D6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15851735">Flusser et al. (2005)</a> identified a homozygous 2607C-A transversion in exon 22 of the GLDC gene, resulting in a silent substitution (pro869 to pro) that affects a splice site. A patient lymphoblast cell line showed abnormal GLDC DNA fragments and significantly reduced mRNA levels, consistent with a pathogenic mutation. An additional unrelated patient had the same mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15851735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="seeAlso" class="mim-anchor"></a>
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<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>See Also:</strong>
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<a href="#Alfi1976" class="mim-tip-reference" title="Alfi, O., Donnell, G. N., Allerdice, P. W., Derencesenyi, A. <strong>The 9p- syndrome.</strong> Ann. Genet. 19: 11-16, 1976.">Alfi et al. (1976)</a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Alfi1976" class="mim-anchor"></a>
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Alfi, O., Donnell, G. N., Allerdice, P. W., Derencesenyi, A.
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<strong>The 9p- syndrome.</strong>
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Ann. Genet. 19: 11-16, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1084115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1084115</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1084115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Applegarth2001" class="mim-anchor"></a>
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Applegarth, D. A., Toone, J. R.
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<strong>Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.</strong>
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Molec. Genet. Metab. 74: 139-146, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11592811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11592811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11592811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/mgme.2001.3224" target="_blank">Full Text</a>]
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<a id="Bodkin2019" class="mim-anchor"></a>
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Bodkin, J. A., Coleman, M. J., Godfrey, L. J., Carvalho, C. M. B., Morgan, C. J., Suckow, R. F., Anderson, T., Ongur, D., Kaufman, M. J., Lewandowski, K. E., Siegel, A. J., Waldstreicher, E., and 19 others.
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<strong>Targeted treatment of individuals with psychosis carrying a copy number variant containing a genomic triplication of the glycine decarboxylase gene.</strong>
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Biol. Psychiat. 86: 523-535, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31279534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31279534</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31279534[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=31279534" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320320416" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.WNL.0000156800.23776.40" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
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<a id="Tada1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tada, K., Kure, S., Kume, A., Hiraga, K.
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<strong>Genomic analysis of non-ketotic hyperglycinaemia: a partial deletion of P-protein gene.</strong>
|
|
J. Inherit. Metab. Dis. 13: 766-770, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2246863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2246863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2246863" 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/BF01799584" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Takayanagi2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Takayanagi, M., Kure, S., Sakata, Y., Kurihara, Y., Ohya, Y., Kajita, M., Tada, K., Matsubara, Y., Narisawa, K.
|
|
<strong>Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psi-GLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia.</strong>
|
|
Hum. Genet. 106: 298-305, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10798358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10798358</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10798358" 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/s004390051041" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Toone2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Toone, J. R., Applegarth, D. A., Coulter-Mackie, M. B., James, E. R.
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|
<strong>Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.</strong>
|
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Molec. Genet. Metab. 70: 116-121, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10873393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10873393</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10873393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/mgme.2000.3000" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Toone2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Toone, J. R., Applegarth, D. A., Coulter-Mackie, M. B., James, E. R.
|
|
<strong>Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).</strong>
|
|
Molec. Genet. Metab. 72: 322-325, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11286506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11286506</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11286506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/mgme.2001.3158" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="von Wendt1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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von Wendt, L., Alanko, H., Sorri, M., Toivakka, E., Saukkonen, A.-L., Simila, S.
|
|
<strong>Clinical and neurophysiological findings in heterozygotes for nonketotic hyperglycinemia.</strong>
|
|
Clin. Genet. 19: 94-100, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7471513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7471513</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7471513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1981.tb00677.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="25" class="mim-anchor"></a>
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<a id="von Wendt1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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von Wendt, L., Hirvasniemi, A., Simila, S.
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|
<strong>Nonketotic hyperglycinemia: a genetic study of 13 Finnish families.</strong>
|
|
Clin. Genet. 15: 411-417, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/445864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">445864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=445864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1979.tb01773.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="26" class="mim-anchor"></a>
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<a id="von Wendt1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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von Wendt, L., Simila, S.
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<strong>Nonketotic hyperglycinemia (NKH). In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders.</strong>
|
|
New York: Academic Press (pub.) 1980. Pp. 652-655.
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 05/31/2023
|
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Ada Hamosh - updated : 07/24/2019<br>Ada Hamosh - updated : 07/07/2015<br>Victor A. McKusick - updated : 6/6/2006<br>Cassandra L. Kniffin - updated : 8/18/2005<br>Cassandra L. Kniffin - updated : 7/22/2005<br>Cassandra L. Kniffin - updated : 8/19/2004<br>Cassandra L. Kniffin - updated : 12/20/2002<br>Ada Hamosh - updated : 2/20/2002<br>Victor A. McKusick - updated : 8/10/2001<br>Ada Hamosh - updated : 5/2/2001<br>Victor A. McKusick - updated : 7/20/2000<br>Ada Hamosh - updated : 5/22/2000<br>Beat Steinmann - updated : 1/17/1997<br>Orest Hurko - updated : 9/24/1995
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/08/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/31/2023<br>carol : 10/17/2019<br>carol : 10/16/2019<br>carol : 07/25/2019<br>alopez : 07/24/2019<br>alopez : 07/07/2015<br>carol : 8/4/2010<br>alopez : 6/12/2006<br>terry : 6/6/2006<br>wwang : 8/22/2005<br>ckniffin : 8/18/2005<br>wwang : 7/26/2005<br>ckniffin : 7/22/2005<br>tkritzer : 8/26/2004<br>ckniffin : 8/19/2004<br>cwells : 11/10/2003<br>ckniffin : 1/10/2003<br>ckniffin : 12/20/2002<br>alopez : 2/22/2002<br>terry : 2/20/2002<br>mcapotos : 8/10/2001<br>carol : 6/22/2001<br>carol : 6/22/2001<br>carol : 6/22/2001<br>terry : 5/3/2001<br>terry : 5/3/2001<br>carol : 5/2/2001<br>mcapotos : 7/20/2000<br>mcapotos : 7/5/2000<br>alopez : 6/1/2000<br>terry : 5/22/2000<br>carol : 4/17/2000<br>carol : 4/17/2000<br>carol : 4/6/2000<br>carol : 4/4/2000<br>carol : 4/4/2000<br>carol : 7/16/1998<br>carol : 5/18/1998<br>joanna : 1/17/1997<br>mark : 1/17/1996<br>terry : 1/16/1996<br>terry : 11/13/1995<br>carol : 2/1/1995<br>davew : 8/19/1994<br>mimadm : 2/19/1994<br>carol : 2/8/1993
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
|
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<strong>*</strong> 238300
|
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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|
GLYCINE DECARBOXYLASE; GLDC
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
GLYCINE CLEAVAGE SYSTEM P PROTEIN; GCSP<br />
|
|
GLYCINE DEHYDROGENASE
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GLDC</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 237939006;
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<strong>ICD10CM:</strong> E72.51;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 9p24.1
|
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:6,532,467-6,645,729 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
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>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
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">
|
|
9p24.1
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Glycine encephalopathy1
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
605899
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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<span class="mim-text-font">
|
|
<p>The enzyme system for cleavage of glycine (glycine cleavage system; GCS; EC 2.1.2.10), which is confined to the mitochondria, is composed of 4 protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein, 238330), T protein (a tetrahydrofolate-requiring enzyme, 238310), and L protein (a lipoamide dehydrogenase, 238331).</p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Kume et al. (1991) cloned the cDNA encoding human glycine decarboxylase, P protein. The deduced protein contains 1,020 amino acids. By RNA blot analysis, Takayanagi et al. (2000) demonstrated that GLDC is expressed in human liver, kidney, brain, and placenta. By dot-blot analysis, Kure et al. (2001) detected expression of GLDC in a limited number of tissues with strong expression in liver, placenta, and kidney; moderate expression in brain, small intestine, thyroid gland, and pituitary gland; and weak expression in colon, bladder, and lung. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</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>Takayanagi et al. (2000) determined the structure of the GLDC gene and its pseudogene. The GLDC gene spans at least 135 kb and contains 25 exons. All donor and acceptor sites adhered to the canonical GT-AG rule, except for the donor site of intron 21, where a variant form GC is used instead of GT. By primer extension analysis, the transcription initiation site was assigned to a residue 163 bp upstream from the translation initiation triplet. The GLDC pseudogene has no introns and shares 97.5% homology with the coding region of functional GLDC, suggesting that it is a processed pseudogene that arose from the GLDC transcript about 4 to 8 million years ago. </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>Pathogenesis</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>Kim et al. (2015) identified a key role for serine and glycine metabolism in the survival of brain cancer cells within the ischemic zones of gliomas. In human glioblastoma multiforme (137800), SHMT2 (138450) and GLDC are highly expressed in the pseudopalisading cells that surround necrotic foci. Kim et al. (2015) found that SHMT2 activity limits that of PKM2 (179050) and reduces oxygen consumption, eliciting a metabolic state that confers a profound survival advantage to cells in poorly vascularized tumor regions. GLDC inhibition impairs cells with high SHMT2 levels, as the excess glycine not metabolized by GLDC can be converted to the toxic molecules aminoacetone and methylglyoxal. Kim et al. (2015) concluded that SHMT2, which is required for cancer cells to adapt to the tumor environment, also renders these cells sensitive to glycine cleavage system inhibition. </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>Cytogenetics</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>Bodkin et al. (2019) conducted a proof-of-principle clinical trial on a mother and son with a complex rearrangement of chromosome 9p24 that included triplication of the GLDC gene (Grochowski et al., 2018). The mother had been diagnosed with bipolar disorder with psychotic features, and the son with schizoaffective disorder. As triplication of GLDC could be expected to result in low levels of brain glycine and D-serine, causing hypofunctioning of the NMDAR receptor channel, Bodkin et al. (2019) undertook the trial to determine whether augmentation of usual psychotropic drug treatment with glycine, a full agonist at the NMDAR glycine modulatory site (GMS), reduced psychotic and mood symptoms in these 2 carriers. Bodkin et al. (2019) performed 2 double-blind placebo-controlled trials in both patients, keeping all other psychotropic medications stable throughout the 6-week trials: one of supplemental glycine at a target dose of 0.8 gm/kg/day, and one of D-cycloserine. Both agents resulted in improved psychotic and mood symptoms in both patients. Glycine dosing at the proposed level was not well tolerated, but was well tolerated and effective at 0.6 gm/kg/day. </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>A high frequency of glycine encephalopathy (GCE1; 605899) has been found in some counties of Finland (von Wendt and Simila, 1980). In 13 heterozygotes in Finland, von Wendt et al. (1981) found minor dysfunctions of the central nervous system which they suggested may be due to a slightly abnormal degradation of glycine (which has a neurotransmitter role). In a patient with GCE, Kure et al. (1992) identified homozygosity for a G to T in the protein coding region of the GLDC gene, which resulted in an amino acid alteration from serine-564 to isoleucine (S564I; 238300.0001). Kure et al. (1992) found that 14 of 20 P protein alleles in Finnish patients carried this single nucleotide substitution. </p><p>Using the GCSP cDNA as a probe in Southern blot analysis of genomic DNA from 2 patients with nonketotic hyperglycinemia, Tada et al. (1990) showed that they had a specific defect in P protein, namely, a partial deletion. </p><p>Toone et al. (2000) identified a recurrent mutation in the P protein, R515S (238300.0004), in 2 unrelated patients with glycine encephalopathy. </p><p>In patients with glycine encephalopathy, Applegarth and Toone (2001) confirmed 9 mutations in the T protein (AMT; 238310) and 8 mutations in the P protein. They also reviewed 7 cases of transient NKH. </p><p>Kure et al. (2006) undertook a comprehensive screening for mutations in the P, T, and H enzymes in 69 families (56, 6, and 7 families with neonatal, infantile, and late-onset type NKH, respectively). GLDC or AMT mutations were identified in 75% of neonatal and 83% of infantile families, but not in late-onset type NKH. No GCSH mutation was identified in this study. GLDC mutations were identified in 36 families, and AMT mutations were detected in 11 families. In 16 of the 36 families with GLDC mutations, mutations were identified in only 1 allele despite sequencing of the entire coding regions. The GLDC gene consists of 25 exons. Seven of the 32 GLDC missense mutations were clustered in exon 19, which encodes the cofactor-binding site lys754. A large deletion involving exon 1 of the GLDC gene was found in Caucasian, Asian, and black families. Multiple origins of the exon 1 deletion were suggested by haplotype analysis with 4 GLDC polymorphisms. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Burton et al. (1989) observed nonketotic glycinemia in an infant with the metabolic and chromosomal features of the 9p- syndrome, leading them to suggest that a gene for nonketotic glycinemia may be located on the short arm of chromosome 9. By fluorescence in situ hybridization using genomic clones, Isobe et al. (1994) assigned the functional GCSP gene to 9p24-p23 and a processed pseudogene to 4q12. Sakakibara et al. (1990) had found deletion of the 5-prime region of the GCSP gene in a patient with glycine encephalopathy. </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>Animal Model</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>Sakata et al. (2001) reported the structure and expression of the glycine cleavage system in the rat central nervous system. </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>10 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">
|
|
<strong>.0001 GLYCINE ENCEPHALOPATHY 1</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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GLDC, SER564ILE
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<br />
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SNP: rs121964974,
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gnomAD: rs121964974,
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ClinVar: RCV000012762, RCV004566730
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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>Glycine encephalopathy (GCE1; 605899) is said to have an incidence of 1 in 12,000 births in northern Finland (von Wendt et al., 1979). Kure et al. (1992) demonstrated that the defect is in the P protein and that a G-to-T mutation resulting in substitution of isoleucine for serine-564 accounts for 14 of 20 P protein alleles. Activity of P protein was undetectable in the lymphoblasts, while P protein mRNA of a normal size and level was present. The S564I mutation was found in homozygous state in 5 patients, while 4 other patients were probably compound heterozygotes. </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>.0002 GLYCINE ENCEPHALOPATHY 1</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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|
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GLDC, PHE756DEL
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<br />
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SNP: rs121964975,
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ClinVar: RCV000049476, RCV004566899
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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 Japanese patient with glycine encephalopathy (GCE1; 605899), Kure et al. (1992) found deletion of phenylalanine-756 in the GLDC gene. Phe756 is located close to lys754, the binding site of pyridoxal phosphate (Kure et al. (1991, 1992)). The deletion probably interferes with B6 binding or function. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 GLYCINE ENCEPHALOPATHY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
GLDC, 30-KB DEL
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|
<br />
|
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|
|
|
ClinVar: RCV004566731
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|
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|
|
</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Takayanagi et al. (2000) studied a Japanese boy with glycine encephalopathy (GCE1; 605899) of neonatal onset. The parents were not known to be related and were from the Aichi prefecture in the central area of Japan. Convulsive seizures and respiratory distress developed at 3 days of age. Administration of ketamine improved his electroencephalographic findings and hyperirritability. His psychomotor development was, however, severely delayed. He never gained head control or walked, and joint contractures developed. At 9 years of age he died of influenzal pneumonia and renal failure. An enzymatic analysis of an autopsied liver specimen revealed that he was completely deficient in GLDC activity. Takayanagi et al. (2000) found that exons 1-3 of the functional GLDC gene from this patient were not amplified by PCR, whereas those from control subjects were. These results suggested a large homozygous deletion (at least 30 kb) in the patient. Takayanagi et al. (2000) devised a semiquantitative PCR to estimate the number of GLDC alleles by using the pseudogene as an internal control and confirmed the homozygosity and heterozygosity of the deletion in the patient and his parents, respectively. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 GLYCINE ENCEPHALOPATHY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLDC, ARG515SER
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|
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|
|
<br />
|
|
|
|
SNP: rs121964976,
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|
|
|
|
|
gnomAD: rs121964976,
|
|
|
|
|
|
ClinVar: RCV000012765, RCV000449527, RCV001582476, RCV003398490, RCV004566732
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 patients with glycine encephalopathy (GCE1; 605899), Toone et al. (2000) identified a G-to-C transversion leading to an arg-to-ser substitution at codon 515 in the GLDC gene. This mutation was not identified in any of 100 normal alleles, and the arginine at this residue was conserved in all species for which sequence was available from human to E. coli. </p><p>Toone et al. (2001) reported that the R515S mutation is present in 5% of NKH alleles. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 GLYCINE ENCEPHALOPATHY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLDC, GLY761ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs386833549,
|
|
|
|
|
|
gnomAD: rs386833549,
|
|
|
|
|
|
ClinVar: RCV000012766, RCV004566733
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Applegarth and Toone (2001) reported that this mutation in glycine encephalopathy (GCE1; 605899), reported originally by Kure et al. (1999), is present in 8% of NKH Finnish alleles. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 GLYCINE ENCEPHALOPATHY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLDC, ALA802VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121964977,
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|
|
|
|
|
gnomAD: rs121964977,
|
|
|
|
|
|
ClinVar: RCV000012767, RCV004566734, RCV004700221
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 affected patients from 2 unrelated families with glycine encephalopathy (GCE1; 605899), Korman et al. (2004) identified a homozygous 2405C-T transition in exon 20 of the GLDC gene, resulting in an ala802-to-val (A802V) substitution at a highly conserved residue. Functional expression studies of the mutation in COS-7 cells showed that mutant protein activity was reduced to 32% of control levels. The authors noted that 32% residual activity is markedly different from the S564I mutation (238300.0001), which has virtually no enzyme activity. The phenotype of the affected patients with the A802V mutation was unique: 3 patients from 1 family had complete resolution of symptoms and developed normally, whereas the fourth patient had only mild neurologic sequelae. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
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|
</div>
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</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 GLYCINE ENCEPHALOPATHY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLDC, MET1THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121964978,
|
|
|
|
|
|
|
|
ClinVar: RCV000012768, RCV004566735
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 8 Arab patients with glycine encephalopathy (GCE1; 605899), Boneh et al. (2005) identified a homozygous T-to-C transition within the ATG methionine codon in exon 1 of the GLDC gene, resulting in a met1-to-thr (M1T) substitution within the initiation codon. All obligate carriers were heterozygous for the mutation and 122 control alleles did not have the mutation. The parents of patients in 5 of 6 families were first cousins. Studies of 2 patients showed markedly decreased GLDC mRNA levels and absence of enzyme activity. All the patients originated from an isolated population of approximately 5,000 people in a small village near Jerusalem. </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>.0008 GLYCINE ENCEPHALOPATHY 1</strong>
|
|
</span>
|
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</h4>
|
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</div>
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLDC, ALA389VAL
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|
|
|
|
<br />
|
|
|
|
SNP: rs121964979,
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|
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|
|
|
gnomAD: rs121964979,
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|
|
|
|
|
ClinVar: RCV000012769, RCV000482511, RCV004566736, RCV004629140
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated patients with a mild form of glycine encephalopathy (GCE1; 605899), Dinopoulos et al. (2005) identified a homozygous 1166C-T transition in exon 9 of the GLDC gene, resulting in an ala389-to-val (A389V) substitution. Functional expression studies showed that the mutant enzyme retained 7.9% residual activity, which may explain the milder phenotype. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
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|
</div>
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|
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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>.0009 GLYCINE ENCEPHALOPATHY 1</strong>
|
|
</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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GLDC, ARG739HIS
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<br />
|
|
|
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SNP: rs121964980,
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|
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|
|
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gnomAD: rs121964980,
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|
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ClinVar: RCV000012770, RCV001659692, RCV004566737
|
|
|
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|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with a mild form of glycine encephalopathy (GCE1; 605899), Dinopoulos et al. (2005) identified a homozygous 2216A-G transition in the GLDC gene, resulting in an arg739-to-his (R739H) substitution. Functional expression studies showed that the mutant enzyme retained 6.1% residual activity, which may explain the milder phenotype. </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>
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<span class="mim-font">
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<strong>.0010 GLYCINE ENCEPHALOPATHY 1</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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GLDC, 2607C-A
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<br />
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SNP: rs386833565,
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gnomAD: rs386833565,
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ClinVar: RCV000049493, RCV004566900, RCV004745181
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 9 affected members of a large consanguineous Israeli Bedouin kindred with atypical glycine encephalopathy (GCE1; 605899), Flusser et al. (2005) identified a homozygous 2607C-A transversion in exon 22 of the GLDC gene, resulting in a silent substitution (pro869 to pro) that affects a splice site. A patient lymphoblast cell line showed abnormal GLDC DNA fragments and significantly reduced mRNA levels, consistent with a pathogenic mutation. An additional unrelated patient had the same mutation. </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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Alfi et al. (1976)
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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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<strong>The 9p- syndrome.</strong>
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<p class="mim-text-font">
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Applegarth, D. A., Toone, J. R.
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<strong>Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.</strong>
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<strong>Nonketotic hyperglycinemia in a patient with the 9p- syndrome.</strong>
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Flusser, H., Korman, S. H., Sato, K., Matsubara, Y., Galil, A., Kure, S.
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<strong>Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation.</strong>
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[PubMed: 15851735]
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<strong>Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.</strong>
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<strong>Assignment of the true and processed genes for human glycine decarboxylase to 9p23-24 and 4q12.</strong>
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Kim, D., Fiske, B. P., Birsoy, K., Freinkman, E., Kami, K., Possemato, R. L., Chudnovsky, Y., Pacold, M. E., Chen, W. W., Cantor, J. R., Shelton, L. M., Gui, D. Y., Kwon, M., Ramkissoon, S. H., Ligon, K. L., Kang, S. W., Snuderl, M., Vander Heiden, M. G., Sabatini, D. M.
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<strong>SHMT2 drives glioma cell survival in ischaemia but imposes a dependence on glycine clearance.</strong>
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Korman, S. H., Boneh, A., Ichinohe, A., Kojima, K., Sato, K., Ergaz, Z., Gomori, J. M., Gutman, A., Kure, S.
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<strong>The glycine cleavage system: molecular cloning of the chicken and human glycine decarboxylase cDNAs and some characteristics involved in the deduced protein structures.</strong>
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Kure, S., Kato, K., Dinopoulos, A., Gail, C., deGrauw, T. J., Christodoulou, J., Bzduch, V., Kalmanchey, R., Fekete, G., Trojovsky, A., Plecko, B., Breningstall, G., Tohyama, J., Aoki, Y., Matsubara, Y.
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Kure, S., Kojima, K., Kudo, T., Kanno, K., Aoki, Y., Suzuki, Y., Shinka, T., Sakata, Y., Narisawa, K., Matsubara, Y.
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<strong>Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.</strong>
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Kure, S., Narisawa, K., Tada, K.
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<strong>Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia.</strong>
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Sakakibara, T., Koyata, H., Ishiguro, Y., Kure, S., Kume, A., Tada, K., Hiraga, K.
|
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<strong>One of the two genomic copies of the glycine decarboxylase cDNA has been deleted at a 5-prime region in a patient with nonketotic hyperglycinemia.</strong>
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<p class="mim-text-font">
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Sakata, Y., Owada, Y., Sato, K., Kojima, K., Hisanaga, K., Shinka, T., Suzuki, Y., Aoki, Y., Satoh, J., Kondo, H., Matsubara, Y., Kure, S.
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<strong>Genomic analysis of non-ketotic hyperglycinaemia: a partial deletion of P-protein gene.</strong>
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</p>
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<li>
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<p class="mim-text-font">
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Takayanagi, M., Kure, S., Sakata, Y., Kurihara, Y., Ohya, Y., Kajita, M., Tada, K., Matsubara, Y., Narisawa, K.
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<strong>Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psi-GLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia.</strong>
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</p>
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<li>
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<p class="mim-text-font">
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Toone, J. R., Applegarth, D. A., Coulter-Mackie, M. B., James, E. R.
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<strong>Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.</strong>
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[Full Text: https://doi.org/10.1006/mgme.2000.3000]
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</p>
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<li>
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<p class="mim-text-font">
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Toone, J. R., Applegarth, D. A., Coulter-Mackie, M. B., James, E. R.
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<strong>Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).</strong>
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Molec. Genet. Metab. 72: 322-325, 2001.
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[PubMed: 11286506]
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[Full Text: https://doi.org/10.1006/mgme.2001.3158]
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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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von Wendt, L., Alanko, H., Sorri, M., Toivakka, E., Saukkonen, A.-L., Simila, S.
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<strong>Clinical and neurophysiological findings in heterozygotes for nonketotic hyperglycinemia.</strong>
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Clin. Genet. 19: 94-100, 1981.
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[PubMed: 7471513]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1981.tb00677.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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von Wendt, L., Hirvasniemi, A., Simila, S.
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<strong>Nonketotic hyperglycinemia: a genetic study of 13 Finnish families.</strong>
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Clin. Genet. 15: 411-417, 1979.
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[PubMed: 445864]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1979.tb01773.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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von Wendt, L., Simila, S.
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<strong>Nonketotic hyperglycinemia (NKH). In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders.</strong>
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New York: Academic Press (pub.) 1980. Pp. 652-655.
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</p>
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</li>
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</ol>
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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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Contributors:
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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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Ada Hamosh - updated : 05/31/2023<br>Ada Hamosh - updated : 07/24/2019<br>Ada Hamosh - updated : 07/07/2015<br>Victor A. McKusick - updated : 6/6/2006<br>Cassandra L. Kniffin - updated : 8/18/2005<br>Cassandra L. Kniffin - updated : 7/22/2005<br>Cassandra L. Kniffin - updated : 8/19/2004<br>Cassandra L. Kniffin - updated : 12/20/2002<br>Ada Hamosh - updated : 2/20/2002<br>Victor A. McKusick - updated : 8/10/2001<br>Ada Hamosh - updated : 5/2/2001<br>Victor A. McKusick - updated : 7/20/2000<br>Ada Hamosh - updated : 5/22/2000<br>Beat Steinmann - updated : 1/17/1997<br>Orest Hurko - updated : 9/24/1995
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</span>
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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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Victor A. McKusick : 6/3/1986
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carol : 08/08/2023<br>carol : 05/31/2023<br>carol : 10/17/2019<br>carol : 10/16/2019<br>carol : 07/25/2019<br>alopez : 07/24/2019<br>alopez : 07/07/2015<br>carol : 8/4/2010<br>alopez : 6/12/2006<br>terry : 6/6/2006<br>wwang : 8/22/2005<br>ckniffin : 8/18/2005<br>wwang : 7/26/2005<br>ckniffin : 7/22/2005<br>tkritzer : 8/26/2004<br>ckniffin : 8/19/2004<br>cwells : 11/10/2003<br>ckniffin : 1/10/2003<br>ckniffin : 12/20/2002<br>alopez : 2/22/2002<br>terry : 2/20/2002<br>mcapotos : 8/10/2001<br>carol : 6/22/2001<br>carol : 6/22/2001<br>carol : 6/22/2001<br>terry : 5/3/2001<br>terry : 5/3/2001<br>carol : 5/2/2001<br>mcapotos : 7/20/2000<br>mcapotos : 7/5/2000<br>alopez : 6/1/2000<br>terry : 5/22/2000<br>carol : 4/17/2000<br>carol : 4/17/2000<br>carol : 4/6/2000<br>carol : 4/4/2000<br>carol : 4/4/2000<br>carol : 7/16/1998<br>carol : 5/18/1998<br>joanna : 1/17/1997<br>mark : 1/17/1996<br>terry : 1/16/1996<br>terry : 11/13/1995<br>carol : 2/1/1995<br>davew : 8/19/1994<br>mimadm : 2/19/1994<br>carol : 2/8/1993
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