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Entry
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- *601019 - SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER 9; SLC6A9
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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">*601019</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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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="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</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/601019">Table View</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 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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</nav>
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</div>
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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=ENSG00000196517;t=ENST00000372310" 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=6536" 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=601019" 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=ENSG00000196517;t=ENST00000372310" 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_001024845,NM_001261380,NM_001328626,NM_001328627,NM_001328628,NM_001328629,NM_001328630,NM_006934,NM_201649,NR_048548,XM_011542017,XM_017002152,XM_047428739,XM_047428740,XM_047428743,XM_047428744" 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_001024845" 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=601019" 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=03010&isoform_id=03010_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/SLC6A9" 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/546769,546771,67782313,67782315,67782317,119627459,119627460,119627461,119627462,221041354,221042296,221044848,221045254,302393807,386869226,767905730,1034561279,1040064768,1040064770,1040064772,1040064774,1040064776,2217270402,2217270404,2217270408,2217270410,2462512971,2462512973,2462512975,2462512977,2462512979,2462512981,2462512983,2462512985,2462512987,2462512989,2462512991,2462512993,2462512996,2462512998,2462513000,2462513002" 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/P48067" 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=6536" 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=ENSG00000196517;t=ENST00000372310" 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=SLC6A9" 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=SLC6A9" 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+6536" 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/SLC6A9" 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:6536" 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/6536" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000372310.8&hgg_start=43996483&hgg_end=44031462&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601019[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=601019[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000196517" 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=SLC6A9" 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=SLC6A9" 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=SLC6A9" 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=SLC6A9&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/PA35916" 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:11056" 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/FBgn0034911.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:95760" 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/SLC6A9#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:95760" 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/6536/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=6536" 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://zfin.org/ZDB-GENE-050105-3" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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:6536" 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=SLC6A9&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
601019
|
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</span>
|
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER 9; SLC6A9
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</span>
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
GLYCINE TRANSPORTER, TYPE 1; GLYT1
|
|
</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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<a id="includedTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
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</div>
|
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<div>
|
|
<span class="h3 mim-font">
|
|
GLYCINE TRANSPORTER 1A, INCLUDED; GLYT1A, INCLUDED
|
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</span>
|
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</div>
|
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<div>
|
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<span class="h4 mim-font">
|
|
|
|
GLYCINE TRANSPORTER 1B, INCLUDED; GLYT1B, INCLUDED
|
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</span>
|
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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>
|
|
<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=SLC6A9" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC6A9</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/1/534?start=-3&limit=10&highlight=534">1p34.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:43996483-44031462&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:43,996,483-44,031,462</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
|
|
|
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</span>
|
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</p>
|
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</div>
|
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<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>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/534?start=-3&limit=10&highlight=534">
|
|
1p34.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycine encephalopathy with normal serum glycine
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/617301"> 617301 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
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|
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</tr>
|
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|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/601019" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601019" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>The SLC6A9 gene encodes the GLYT1 glycine transporter, which is located predominantly on astrocytes and is essential for the clearance of glycine from the extracellular space and termination of glycinergic neurotransmission (summary by <a href="#8" class="mim-tip-reference" title="Kurolap, A., Armbruster, A., Hershkovitz, T., Hauf, K., Mory, A., Paperna, T., Hannappel, E., Tal, G., Nijem Y., Sella, E., Mahajnah, M., Ilivitzki, A., Hershkovitz, D., Ekhilevitch, N., Mandel, H., Eulenburg, V., Baris, H. N. <strong>Loss of glycine transporter 1 causes a subtype of glycine encephalopathy with arthrogryposis and mildly elevated cerebrospinal fluid glycine.</strong> Am. J. Hum. Genet. 99: 1172-1180, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27773429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27773429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27773429[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.09.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27773429">Kurolap et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27773429" 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 transport is mediated by 2 sodium-dependent carriers, GLYT1 and GLYT2 (<a href="/entry/604159">604159</a>), that have distinct tissue distributions. <a href="#3" class="mim-tip-reference" title="Borowsky, B., Mezey, E., Hoffman, B. J. <strong>Two glycine transporter variants with distinct localization in the CNS and peripheral tissues are encoded by a common gene.</strong> Neuron 10: 851-863, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8494645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8494645</a>] [<a href="https://doi.org/10.1016/0896-6273(93)90201-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8494645">Borowsky et al. (1993)</a> isolated 2 glycine transporter variants with distinct localizations in the central nervous system (CNS) and peripheral tissues, encoded by a common gene. While the 3-prime sequences of these 2 cDNAs were identical, the 5-prime noncoding regions and the N termini were completely different. GLYT1b was found only in the white matter of the CNS, while GLYT1a was found in the gray matter of the CNS as well as in macrophages and mast cells in peripheral tissues. The findings of <a href="#3" class="mim-tip-reference" title="Borowsky, B., Mezey, E., Hoffman, B. J. <strong>Two glycine transporter variants with distinct localization in the CNS and peripheral tissues are encoded by a common gene.</strong> Neuron 10: 851-863, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8494645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8494645</a>] [<a href="https://doi.org/10.1016/0896-6273(93)90201-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8494645">Borowsky et al. (1993)</a> suggested that tissue-specific alternative splicing or alternative promoter usage from a single gene resulted in 2 mRNA products encoding similar but distinct glycine transporters. The anatomic distribution of GLYT1a mRNA supported the emerging status of glycine as a supraspinal neurotransmitter and suggested that glycine may function as a chemical messenger outside the CNS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8494645" 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 mouse brain, <a href="#8" class="mim-tip-reference" title="Kurolap, A., Armbruster, A., Hershkovitz, T., Hauf, K., Mory, A., Paperna, T., Hannappel, E., Tal, G., Nijem Y., Sella, E., Mahajnah, M., Ilivitzki, A., Hershkovitz, D., Ekhilevitch, N., Mandel, H., Eulenburg, V., Baris, H. N. <strong>Loss of glycine transporter 1 causes a subtype of glycine encephalopathy with arthrogryposis and mildly elevated cerebrospinal fluid glycine.</strong> Am. J. Hum. Genet. 99: 1172-1180, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27773429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27773429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27773429[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.09.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27773429">Kurolap et al. (2016)</a> found high expression of the Glyt1 gene in the caudal region of the central nervous system known to be rich in glycinergic neurons. Glyt1 was not observed in peripheral tissues, such as liver, muscle, and skin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27773429" 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="West, K. L., Castellini, M. A., Duncan, M. K., Bustin, M. <strong>Chromosomal proteins HMGN3a and HMGN3b regulate the expression of glycine transporter 1.</strong> Molec. Cell. Biol. 24: 3747-3756, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15082770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15082770</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15082770[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/10.1128/MCB.24.9.3747-3756.2004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15082770">West et al. (2004)</a> found that mouse Hmgn3 (<a href="/entry/604502">604502</a>) upregulated expression of Glyt1 following transfection into a mouse hepatoma cell line. Hmgn3 and Glyt1 were coexpressed in mouse retina, and chromatin immunoprecipitation assays showed that Hmgn3 bound to a region of the Glyt1 gene encompassing the Glyt1a transcriptional start site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15082770" 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>By yeast 2-hybrid analysis, <a href="#5" class="mim-tip-reference" title="Hanley, J. G., Jones, E. M. C., Moss, S. J. <strong>GABA receptor rho-1 subunit interacts with a novel splice variant of the glycine transporter, GLYT-1.</strong> J. Biol. Chem. 275: 840-846, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10625616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10625616</a>] [<a href="https://doi.org/10.1074/jbc.275.2.840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10625616">Hanley et al. (2000)</a> identified a C-terminal variant of bovine Glyt1 that interacted specifically with the rho-1 subunit of the GABA-C receptor (<a href="/entry/137161">137161</a>). They also found that variations in the C-terminal domain of Glyt1 dramatically affected its kinetic properties. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10625616" 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="#7" class="mim-tip-reference" title="Kim, K.-M., Kingsmore, S. F., Han, H., Yang-Feng, T. L., Godinot, N., Seldin, M. F., Caron, M. G., Giros, B. <strong>Cloning of the human glycine transporter type 1: molecular and pharmacological characterization of novel isoform variants and chromosomal localization of the gene in the human and mouse genomes.</strong> Molec. Pharm. 45: 608-617, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8183239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8183239</a>]" pmid="8183239">Kim et al. (1994)</a> mapped the gene encoding GLYT1, SLC6A9, to 1p32-p31.3 using isotopic in situ hybridization. They also mapped the mouse gene to chromosome 4 in a region near the 'clasper' locus. Using fluorescence in situ hybridization, <a href="#6" class="mim-tip-reference" title="Jones, E. M. C., Fernald, A., Bell, G. I., Le Beau, M. M. <strong>Assignment of SLC6A9 to human chromosome band 1p33 by in situ hybridization.</strong> Cytogenet. Cell Genet. 71: 211, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7587377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7587377</a>] [<a href="https://doi.org/10.1159/000134110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7587377">Jones et al. (1995)</a> mapped the gene more precisely to 1p33. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8183239+7587377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 15-month-old girl, born of consanguineous Saudi parents, with glycine encephalopathy with normal serum glycine (<a href="/entry/617301">617301</a>), <a href="#1" class="mim-tip-reference" title="Alfadhel, M., Nashabat, M., Al Qahtani, H., Alfares, A., Al Mutairi, F., Al Shaalan, H., Douglas, G. V., Wierenga, K., Juusola, J., Alrifai, M. T., Arold, S. T., Alkuraya, F., Ali, Q. A. <strong>Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.</strong> Hum. Genet. 135: 1263-1268, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27481395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27481395</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27481395[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/10.1007/s00439-016-1719-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27481395">Alfadhel et al. (2016)</a> identified a homozygous missense mutation in the SLC6A9 gene (S407G; <a href="#0001">601019.0001</a>). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27481395" 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 affected children from 2 unrelated consanguineous Muslim-Arab families with glycine encephalopathy with normal serum glycine, <a href="#8" class="mim-tip-reference" title="Kurolap, A., Armbruster, A., Hershkovitz, T., Hauf, K., Mory, A., Paperna, T., Hannappel, E., Tal, G., Nijem Y., Sella, E., Mahajnah, M., Ilivitzki, A., Hershkovitz, D., Ekhilevitch, N., Mandel, H., Eulenburg, V., Baris, H. N. <strong>Loss of glycine transporter 1 causes a subtype of glycine encephalopathy with arthrogryposis and mildly elevated cerebrospinal fluid glycine.</strong> Am. J. Hum. Genet. 99: 1172-1180, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27773429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27773429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27773429[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.09.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27773429">Kurolap et al. (2016)</a> identified 2 different homozygous truncating mutations in the SLC6A9 gene (<a href="#0002">601019.0002</a> and <a href="#0003">601019.0003</a>). The mutation in the first family was found by whole-exome sequencing and confirmed by Sanger sequencing; the mutation in the second family was found by direct sequencing of the SLC6A9 gene. Functional studies of the variant and studies of patient cells were not performed. However, mice treated with a Glyt1 inhibitor developed increased CSF glycine levels, hypoactivity, and hypertonic seizures, whereas total blood glycine was not elevated. These features were similar to those observed in the patients, suggesting that loss of SLC6A9 causing impaired glycine neurotransmission was responsible for the neurologic disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27773429" 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>SLCC6A9 maintains subsaturating concentrations of glycine at synaptic N-methyl-D-aspartate receptors (NMDAR; see <a href="/entry/138249">138249</a>), which require the binding of both glycine and glutamate for activation. <a href="#9" class="mim-tip-reference" title="Tsai, G., Ralph-Williams, R. J., Martina, M., Bergeron, R., Berger-Sweeney, J., Dunham, K. S., Jiang, Z., Caine, S. B., Coyle, J. T. <strong>Gene knockout of glycine transporter 1: characterization of the behavioral phenotype.</strong> Proc. Nat. Acad. Sci. 101: 8485-8490, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15159536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15159536</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15159536[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/10.1073/pnas.0402662101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15159536">Tsai et al. (2004)</a> disrupted the Glyt1 gene in mice. Homozygous mice died within 12 hours of birth. Heterozygous mice expressed 50% of the wildtype levels of Glyt1, and heterozygote forebrain homogenates showed a 50% reduction in Na(+)-dependent glycine transport. Reduced Glyt1 expression enhanced hippocampal NMDAR function and memory retention and protected against an amphetamine disruption of sensory gating. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15159536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Gomeza, J., Hulsmann, S., Ohno, K., Eulenberg, V., Szoke, K., Richter, D., Betz, H. <strong>Inactivation of the glycine transporter 1 gene discloses vital role of glial glycine uptake in glycinergic inhibition.</strong> Neuron 40: 785-796, 2003. Note: Erratum: Neuron 41: 675 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14622582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14622582</a>] [<a href="https://doi.org/10.1016/s0896-6273(03)00672-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14622582">Gomeza et al. (2003)</a> created Glyt1-deficient mice. Homozygous null mice were born at expected mendelian ratios; however, they showed severe motor and respiration deficits and died during the first postnatal day. Histologic examination of several tissues and systematic analysis of the CNS revealed no obvious defect. Since Glyt1-null mice did not breathe properly, <a href="#4" class="mim-tip-reference" title="Gomeza, J., Hulsmann, S., Ohno, K., Eulenberg, V., Szoke, K., Richter, D., Betz, H. <strong>Inactivation of the glycine transporter 1 gene discloses vital role of glial glycine uptake in glycinergic inhibition.</strong> Neuron 40: 785-796, 2003. Note: Erratum: Neuron 41: 675 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14622582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14622582</a>] [<a href="https://doi.org/10.1016/s0896-6273(03)00672-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14622582">Gomeza et al. (2003)</a> analyzed transverse slices from the caudal medulla for neuronal activity. In contrast to the regular rhythmic bursting observed in medulla slices from wildtype animals, Glyt1-null medulla slices showed prolonged periods of inactivity and variable interburst intervals. Respiratory activity was partly normalized by the glycine receptor agonist, strychnine. Conversely, glycine or a GLYT1 inhibitor suppressed respiratory activity in wildtype medulla slices. <a href="#4" class="mim-tip-reference" title="Gomeza, J., Hulsmann, S., Ohno, K., Eulenberg, V., Szoke, K., Richter, D., Betz, H. <strong>Inactivation of the glycine transporter 1 gene discloses vital role of glial glycine uptake in glycinergic inhibition.</strong> Neuron 40: 785-796, 2003. Note: Erratum: Neuron 41: 675 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14622582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14622582</a>] [<a href="https://doi.org/10.1016/s0896-6273(03)00672-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14622582">Gomeza et al. (2003)</a> concluded that GLYT1 is essential for regulating glycine concentrations at inhibitory glycine receptors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14622582" 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>Although <a href="#3" class="mim-tip-reference" title="Borowsky, B., Mezey, E., Hoffman, B. J. <strong>Two glycine transporter variants with distinct localization in the CNS and peripheral tissues are encoded by a common gene.</strong> Neuron 10: 851-863, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8494645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8494645</a>] [<a href="https://doi.org/10.1016/0896-6273(93)90201-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8494645">Borowsky et al. (1993)</a> referred to the 2 variants that they isolated as GLYT1 and GLYT2, in a subsequent paper (<a href="#2" class="mim-tip-reference" title="Borowsky, B., Hoffman, B. J. <strong>Analysis of a gene encoding two glycine transporter variants reveals alternative promoter usage and a novel gene structure.</strong> J. Biol. Chem. 273: 29077-29085, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9786914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9786914</a>] [<a href="https://doi.org/10.1074/jbc.273.44.29077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9786914">Borowsky and Hoffman, 1998</a>) these variants were referred to as GLYT1b and GLYT1a, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8494645+9786914" 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=601019[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1057519313 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057519313;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=rs1057519313" 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=rs1057519313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 15-month-old girl, born of consanguineous Saudi parents, with glycine encephalopathy with normal serum glycine (<a href="/entry/617301">617301</a>), <a href="#1" class="mim-tip-reference" title="Alfadhel, M., Nashabat, M., Al Qahtani, H., Alfares, A., Al Mutairi, F., Al Shaalan, H., Douglas, G. V., Wierenga, K., Juusola, J., Alrifai, M. T., Arold, S. T., Alkuraya, F., Ali, Q. A. <strong>Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.</strong> Hum. Genet. 135: 1263-1268, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27481395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27481395</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27481395[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/10.1007/s00439-016-1719-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27481395">Alfadhel et al. (2016)</a> identified a homozygous c.1219A-G transition (c.1219A-G, NM_201649.3) in exon 9 of the SLC6A9 gene, resulting in a ser407-to-gly (S407G) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. It was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 2,000 Saudi control exomes. Functional studies of the variant and studies of patients cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27481395" 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">rs1057519315 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057519315;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=rs1057519315" 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=rs1057519315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 2-year-old girl, born of consanguineous Muslim-Arab parents, with glycine encephalopathy with normal serum glycine (<a href="/entry/617301">617301</a>), <a href="#8" class="mim-tip-reference" title="Kurolap, A., Armbruster, A., Hershkovitz, T., Hauf, K., Mory, A., Paperna, T., Hannappel, E., Tal, G., Nijem Y., Sella, E., Mahajnah, M., Ilivitzki, A., Hershkovitz, D., Ekhilevitch, N., Mandel, H., Eulenburg, V., Baris, H. N. <strong>Loss of glycine transporter 1 causes a subtype of glycine encephalopathy with arthrogryposis and mildly elevated cerebrospinal fluid glycine.</strong> Am. J. Hum. Genet. 99: 1172-1180, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27773429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27773429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27773429[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.09.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27773429">Kurolap et al. (2016)</a> identified a homozygous 5-bp deletion (c.928_932delAAGTC, NM_201649.3) in exon 6 of the SLC6A9 gene, resulting in a frameshift and premature termination (Lys310PhefsTer31). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP, 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 300 in-house control chromosomes. The same homozygous mutation was found in the affected fetus of a subsequent pregnancy in this family. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27773429" 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">rs1057519314 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057519314;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=rs1057519314" 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=rs1057519314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 sibs, born of consanguineous Muslim-Arab parents, with glycine encephalopathy with normal serum glycine (<a href="/entry/617301">617301</a>), <a href="#8" class="mim-tip-reference" title="Kurolap, A., Armbruster, A., Hershkovitz, T., Hauf, K., Mory, A., Paperna, T., Hannappel, E., Tal, G., Nijem Y., Sella, E., Mahajnah, M., Ilivitzki, A., Hershkovitz, D., Ekhilevitch, N., Mandel, H., Eulenburg, V., Baris, H. N. <strong>Loss of glycine transporter 1 causes a subtype of glycine encephalopathy with arthrogryposis and mildly elevated cerebrospinal fluid glycine.</strong> Am. J. Hum. Genet. 99: 1172-1180, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27773429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27773429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27773429[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.09.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27773429">Kurolap et al. (2016)</a> identified a homozygous c.1717C-T transition (c.1717C-T, NM_201649.3) in the SLC6A9 gene, resulting in a gln573-to-ter (Q573X) substitution. The mutation, which was found by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP, 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 300 in-house control chromosomes. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27773429" 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="Alfadhel2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Alfadhel, M., Nashabat, M., Al Qahtani, H., Alfares, A., Al Mutairi, F., Al Shaalan, H., Douglas, G. V., Wierenga, K., Juusola, J., Alrifai, M. T., Arold, S. T., Alkuraya, F., Ali, Q. A.
|
|
<strong>Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.</strong>
|
|
Hum. Genet. 135: 1263-1268, 2016.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27481395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27481395</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27481395[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=27481395" 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/s00439-016-1719-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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<a id="2" class="mim-anchor"></a>
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<a id="Borowsky1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Borowsky, B., Hoffman, B. J.
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|
<strong>Analysis of a gene encoding two glycine transporter variants reveals alternative promoter usage and a novel gene structure.</strong>
|
|
J. Biol. Chem. 273: 29077-29085, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9786914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9786914</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9786914" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.273.44.29077" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Borowsky1993" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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|
Borowsky, B., Mezey, E., Hoffman, B. J.
|
|
<strong>Two glycine transporter variants with distinct localization in the CNS and peripheral tissues are encoded by a common gene.</strong>
|
|
Neuron 10: 851-863, 1993.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8494645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8494645</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8494645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0896-6273(93)90201-2" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Gomeza2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gomeza, J., Hulsmann, S., Ohno, K., Eulenberg, V., Szoke, K., Richter, D., Betz, H.
|
|
<strong>Inactivation of the glycine transporter 1 gene discloses vital role of glial glycine uptake in glycinergic inhibition.</strong>
|
|
Neuron 40: 785-796, 2003. Note: Erratum: Neuron 41: 675 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14622582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14622582</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14622582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0896-6273(03)00672-x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Hanley2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hanley, J. G., Jones, E. M. C., Moss, S. J.
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<strong>GABA receptor rho-1 subunit interacts with a novel splice variant of the glycine transporter, GLYT-1.</strong>
|
|
J. Biol. Chem. 275: 840-846, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10625616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10625616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10625616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.275.2.840" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Jones1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jones, E. M. C., Fernald, A., Bell, G. I., Le Beau, M. M.
|
|
<strong>Assignment of SLC6A9 to human chromosome band 1p33 by in situ hybridization.</strong>
|
|
Cytogenet. Cell Genet. 71: 211, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7587377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7587377</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7587377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000134110" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Kim1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kim, K.-M., Kingsmore, S. F., Han, H., Yang-Feng, T. L., Godinot, N., Seldin, M. F., Caron, M. G., Giros, B.
|
|
<strong>Cloning of the human glycine transporter type 1: molecular and pharmacological characterization of novel isoform variants and chromosomal localization of the gene in the human and mouse genomes.</strong>
|
|
Molec. Pharm. 45: 608-617, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8183239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8183239</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8183239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Kurolap2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kurolap, A., Armbruster, A., Hershkovitz, T., Hauf, K., Mory, A., Paperna, T., Hannappel, E., Tal, G., Nijem Y., Sella, E., Mahajnah, M., Ilivitzki, A., Hershkovitz, D., Ekhilevitch, N., Mandel, H., Eulenburg, V., Baris, H. N.
|
|
<strong>Loss of glycine transporter 1 causes a subtype of glycine encephalopathy with arthrogryposis and mildly elevated cerebrospinal fluid glycine.</strong>
|
|
Am. J. Hum. Genet. 99: 1172-1180, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27773429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27773429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27773429[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=27773429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2016.09.004" target="_blank">Full Text</a>]
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Tsai2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tsai, G., Ralph-Williams, R. J., Martina, M., Bergeron, R., Berger-Sweeney, J., Dunham, K. S., Jiang, Z., Caine, S. B., Coyle, J. T.
|
|
<strong>Gene knockout of glycine transporter 1: characterization of the behavioral phenotype.</strong>
|
|
Proc. Nat. Acad. Sci. 101: 8485-8490, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15159536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15159536</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15159536[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=15159536" 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/10.1073/pnas.0402662101" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="West2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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West, K. L., Castellini, M. A., Duncan, M. K., Bustin, M.
|
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<strong>Chromosomal proteins HMGN3a and HMGN3b regulate the expression of glycine transporter 1.</strong>
|
|
Molec. Cell. Biol. 24: 3747-3756, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15082770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15082770</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15082770[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=15082770" 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/10.1128/MCB.24.9.3747-3756.2004" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 5/26/2005
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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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Patricia A. Hartz - updated : 7/2/2004<br>Patricia A. Hartz - updated : 6/25/2004<br>Victor A. McKusick - updated : 3/23/1998
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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 : 1/28/1996
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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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alopez : 06/01/2018
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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 : 01/19/2017<br>ckniffin : 01/17/2017<br>wwang : 06/15/2005<br>wwang : 6/8/2005<br>terry : 5/26/2005<br>mgross : 7/14/2004<br>terry : 7/2/2004<br>mgross : 6/29/2004<br>mgross : 6/29/2004<br>terry : 6/25/2004<br>carol : 3/8/2002<br>terry : 3/8/2002<br>alopez : 9/5/1999<br>alopez : 3/23/1998<br>terry : 2/27/1998<br>mark : 1/28/1996
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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 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> 601019
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER 9; SLC6A9
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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GLYCINE TRANSPORTER, TYPE 1; GLYT1
|
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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-font">
|
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Other entities represented in this entry:
|
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</span>
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</p>
|
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</div>
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<div>
|
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<span class="h3 mim-font">
|
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GLYCINE TRANSPORTER 1A, INCLUDED; GLYT1A, INCLUDED
|
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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GLYCINE TRANSPORTER 1B, INCLUDED; GLYT1B, INCLUDED
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</span>
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: SLC6A9</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>
|
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<em>
|
|
Cytogenetic location: 1p34.1
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 1:43,996,483-44,031,462 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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|
Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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|
Inheritance
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</th>
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<th>
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|
Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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1p34.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Glycine encephalopathy with normal serum glycine
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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617301
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The SLC6A9 gene encodes the GLYT1 glycine transporter, which is located predominantly on astrocytes and is essential for the clearance of glycine from the extracellular space and termination of glycinergic neurotransmission (summary by Kurolap et al., 2016). </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">
|
|
<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>Glycine transport is mediated by 2 sodium-dependent carriers, GLYT1 and GLYT2 (604159), that have distinct tissue distributions. Borowsky et al. (1993) isolated 2 glycine transporter variants with distinct localizations in the central nervous system (CNS) and peripheral tissues, encoded by a common gene. While the 3-prime sequences of these 2 cDNAs were identical, the 5-prime noncoding regions and the N termini were completely different. GLYT1b was found only in the white matter of the CNS, while GLYT1a was found in the gray matter of the CNS as well as in macrophages and mast cells in peripheral tissues. The findings of Borowsky et al. (1993) suggested that tissue-specific alternative splicing or alternative promoter usage from a single gene resulted in 2 mRNA products encoding similar but distinct glycine transporters. The anatomic distribution of GLYT1a mRNA supported the emerging status of glycine as a supraspinal neurotransmitter and suggested that glycine may function as a chemical messenger outside the CNS. </p><p>In mouse brain, Kurolap et al. (2016) found high expression of the Glyt1 gene in the caudal region of the central nervous system known to be rich in glycinergic neurons. Glyt1 was not observed in peripheral tissues, such as liver, muscle, and skin. </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>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
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</span>
|
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</h4>
|
|
</div>
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|
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<span class="mim-text-font">
|
|
<p>West et al. (2004) found that mouse Hmgn3 (604502) upregulated expression of Glyt1 following transfection into a mouse hepatoma cell line. Hmgn3 and Glyt1 were coexpressed in mouse retina, and chromatin immunoprecipitation assays showed that Hmgn3 bound to a region of the Glyt1 gene encompassing the Glyt1a transcriptional start site. </p><p>By yeast 2-hybrid analysis, Hanley et al. (2000) identified a C-terminal variant of bovine Glyt1 that interacted specifically with the rho-1 subunit of the GABA-C receptor (137161). They also found that variations in the C-terminal domain of Glyt1 dramatically affected its kinetic properties. </p>
|
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</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>Kim et al. (1994) mapped the gene encoding GLYT1, SLC6A9, to 1p32-p31.3 using isotopic in situ hybridization. They also mapped the mouse gene to chromosome 4 in a region near the 'clasper' locus. Using fluorescence in situ hybridization, Jones et al. (1995) mapped the gene more precisely to 1p33. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a 15-month-old girl, born of consanguineous Saudi parents, with glycine encephalopathy with normal serum glycine (617301), Alfadhel et al. (2016) identified a homozygous missense mutation in the SLC6A9 gene (S407G; 601019.0001). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed. </p><p>In affected children from 2 unrelated consanguineous Muslim-Arab families with glycine encephalopathy with normal serum glycine, Kurolap et al. (2016) identified 2 different homozygous truncating mutations in the SLC6A9 gene (601019.0002 and 601019.0003). The mutation in the first family was found by whole-exome sequencing and confirmed by Sanger sequencing; the mutation in the second family was found by direct sequencing of the SLC6A9 gene. Functional studies of the variant and studies of patient cells were not performed. However, mice treated with a Glyt1 inhibitor developed increased CSF glycine levels, hypoactivity, and hypertonic seizures, whereas total blood glycine was not elevated. These features were similar to those observed in the patients, suggesting that loss of SLC6A9 causing impaired glycine neurotransmission was responsible for the neurologic disorder. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>SLCC6A9 maintains subsaturating concentrations of glycine at synaptic N-methyl-D-aspartate receptors (NMDAR; see 138249), which require the binding of both glycine and glutamate for activation. Tsai et al. (2004) disrupted the Glyt1 gene in mice. Homozygous mice died within 12 hours of birth. Heterozygous mice expressed 50% of the wildtype levels of Glyt1, and heterozygote forebrain homogenates showed a 50% reduction in Na(+)-dependent glycine transport. Reduced Glyt1 expression enhanced hippocampal NMDAR function and memory retention and protected against an amphetamine disruption of sensory gating. </p><p>Gomeza et al. (2003) created Glyt1-deficient mice. Homozygous null mice were born at expected mendelian ratios; however, they showed severe motor and respiration deficits and died during the first postnatal day. Histologic examination of several tissues and systematic analysis of the CNS revealed no obvious defect. Since Glyt1-null mice did not breathe properly, Gomeza et al. (2003) analyzed transverse slices from the caudal medulla for neuronal activity. In contrast to the regular rhythmic bursting observed in medulla slices from wildtype animals, Glyt1-null medulla slices showed prolonged periods of inactivity and variable interburst intervals. Respiratory activity was partly normalized by the glycine receptor agonist, strychnine. Conversely, glycine or a GLYT1 inhibitor suppressed respiratory activity in wildtype medulla slices. Gomeza et al. (2003) concluded that GLYT1 is essential for regulating glycine concentrations at inhibitory glycine receptors. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Nomenclature</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Although Borowsky et al. (1993) referred to the 2 variants that they isolated as GLYT1 and GLYT2, in a subsequent paper (Borowsky and Hoffman, 1998) these variants were referred to as GLYT1b and GLYT1a, respectively. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>3 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC6A9, SER407GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1057519313,
|
|
|
|
|
|
|
|
ClinVar: RCV000415674
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 15-month-old girl, born of consanguineous Saudi parents, with glycine encephalopathy with normal serum glycine (617301), Alfadhel et al. (2016) identified a homozygous c.1219A-G transition (c.1219A-G, NM_201649.3) in exon 9 of the SLC6A9 gene, resulting in a ser407-to-gly (S407G) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. It was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 2,000 Saudi control exomes. Functional studies of the variant and studies of patients cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC6A9, 5-BP DEL, 928AAGTC
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1057519315,
|
|
|
|
|
|
|
|
ClinVar: RCV000415630
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 2-year-old girl, born of consanguineous Muslim-Arab parents, with glycine encephalopathy with normal serum glycine (617301), Kurolap et al. (2016) identified a homozygous 5-bp deletion (c.928_932delAAGTC, NM_201649.3) in exon 6 of the SLC6A9 gene, resulting in a frameshift and premature termination (Lys310PhefsTer31). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP, 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 300 in-house control chromosomes. The same homozygous mutation was found in the affected fetus of a subsequent pregnancy in this family. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC6A9, GLN573TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1057519314,
|
|
|
|
|
|
|
|
ClinVar: RCV000415706
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 sibs, born of consanguineous Muslim-Arab parents, with glycine encephalopathy with normal serum glycine (617301), Kurolap et al. (2016) identified a homozygous c.1717C-T transition (c.1717C-T, NM_201649.3) in the SLC6A9 gene, resulting in a gln573-to-ter (Q573X) substitution. The mutation, which was found by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP, 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 300 in-house control chromosomes. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
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|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Alfadhel, M., Nashabat, M., Al Qahtani, H., Alfares, A., Al Mutairi, F., Al Shaalan, H., Douglas, G. V., Wierenga, K., Juusola, J., Alrifai, M. T., Arold, S. T., Alkuraya, F., Ali, Q. A.
|
|
<strong>Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.</strong>
|
|
Hum. Genet. 135: 1263-1268, 2016.
|
|
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|
|
|
[PubMed: 27481395]
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|
|
[Full Text: https://doi.org/10.1007/s00439-016-1719-x]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Borowsky, B., Hoffman, B. J.
|
|
<strong>Analysis of a gene encoding two glycine transporter variants reveals alternative promoter usage and a novel gene structure.</strong>
|
|
J. Biol. Chem. 273: 29077-29085, 1998.
|
|
|
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|
|
[PubMed: 9786914]
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|
|
[Full Text: https://doi.org/10.1074/jbc.273.44.29077]
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Borowsky, B., Mezey, E., Hoffman, B. J.
|
|
<strong>Two glycine transporter variants with distinct localization in the CNS and peripheral tissues are encoded by a common gene.</strong>
|
|
Neuron 10: 851-863, 1993.
|
|
|
|
|
|
[PubMed: 8494645]
|
|
|
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|
|
[Full Text: https://doi.org/10.1016/0896-6273(93)90201-2]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gomeza, J., Hulsmann, S., Ohno, K., Eulenberg, V., Szoke, K., Richter, D., Betz, H.
|
|
<strong>Inactivation of the glycine transporter 1 gene discloses vital role of glial glycine uptake in glycinergic inhibition.</strong>
|
|
Neuron 40: 785-796, 2003. Note: Erratum: Neuron 41: 675 only, 2004.
|
|
|
|
|
|
[PubMed: 14622582]
|
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|
|
[Full Text: https://doi.org/10.1016/s0896-6273(03)00672-x]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hanley, J. G., Jones, E. M. C., Moss, S. J.
|
|
<strong>GABA receptor rho-1 subunit interacts with a novel splice variant of the glycine transporter, GLYT-1.</strong>
|
|
J. Biol. Chem. 275: 840-846, 2000.
|
|
|
|
|
|
[PubMed: 10625616]
|
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|
|
[Full Text: https://doi.org/10.1074/jbc.275.2.840]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jones, E. M. C., Fernald, A., Bell, G. I., Le Beau, M. M.
|
|
<strong>Assignment of SLC6A9 to human chromosome band 1p33 by in situ hybridization.</strong>
|
|
Cytogenet. Cell Genet. 71: 211, 1995.
|
|
|
|
|
|
[PubMed: 7587377]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000134110]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kim, K.-M., Kingsmore, S. F., Han, H., Yang-Feng, T. L., Godinot, N., Seldin, M. F., Caron, M. G., Giros, B.
|
|
<strong>Cloning of the human glycine transporter type 1: molecular and pharmacological characterization of novel isoform variants and chromosomal localization of the gene in the human and mouse genomes.</strong>
|
|
Molec. Pharm. 45: 608-617, 1994.
|
|
|
|
|
|
[PubMed: 8183239]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kurolap, A., Armbruster, A., Hershkovitz, T., Hauf, K., Mory, A., Paperna, T., Hannappel, E., Tal, G., Nijem Y., Sella, E., Mahajnah, M., Ilivitzki, A., Hershkovitz, D., Ekhilevitch, N., Mandel, H., Eulenburg, V., Baris, H. N.
|
|
<strong>Loss of glycine transporter 1 causes a subtype of glycine encephalopathy with arthrogryposis and mildly elevated cerebrospinal fluid glycine.</strong>
|
|
Am. J. Hum. Genet. 99: 1172-1180, 2016.
|
|
|
|
|
|
[PubMed: 27773429]
|
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|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2016.09.004]
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|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tsai, G., Ralph-Williams, R. J., Martina, M., Bergeron, R., Berger-Sweeney, J., Dunham, K. S., Jiang, Z., Caine, S. B., Coyle, J. T.
|
|
<strong>Gene knockout of glycine transporter 1: characterization of the behavioral phenotype.</strong>
|
|
Proc. Nat. Acad. Sci. 101: 8485-8490, 2004.
|
|
|
|
|
|
[PubMed: 15159536]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0402662101]
|
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West, K. L., Castellini, M. A., Duncan, M. K., Bustin, M.
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<strong>Chromosomal proteins HMGN3a and HMGN3b regulate the expression of glycine transporter 1.</strong>
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Molec. Cell. Biol. 24: 3747-3756, 2004.
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[PubMed: 15082770]
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[Full Text: https://doi.org/10.1128/MCB.24.9.3747-3756.2004]
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Patricia A. Hartz - updated : 5/26/2005<br>Patricia A. Hartz - updated : 7/2/2004<br>Patricia A. Hartz - updated : 6/25/2004<br>Victor A. McKusick - updated : 3/23/1998
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Victor A. McKusick : 1/28/1996
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