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- *139312 - GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE, OLFACTORY TYPE; GNAL
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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">*139312</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/139312">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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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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<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=ENSG00000141404;t=ENST00000334049" 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=2774" 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=139312" 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=ENSG00000141404;t=ENST00000334049" 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_001142339,NM_001261443,NM_001261444,NM_001369387,NM_182978,XM_006722324" 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_182978" 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=139312" 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=00758&isoform_id=00758_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/GNAL" 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/182968,585178,4097329,20147679,21749110,29477177,33695153,44903641,119621978,119621979,158261131,189054105,194379156,215272301,221045670,387598060,387598062,578832131,1609046129,2104758967,2462560277" 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/P38405" 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=2774" 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=ENSG00000141404;t=ENST00000334049" 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=GNAL" 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=GNAL" 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+2774" 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/GNAL" 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:2774" 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/2774" 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=chr18&hgg_gene=ENST00000334049.11&hgg_start=11689264&hgg_end=11885685&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=139312[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=139312[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/ENSG00000141404" 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=GNAL" 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=GNAL" 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=GNAL" 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="http://www.LOVD.nl/GNAL" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GNAL&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/PA28770" 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:4388" 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/FBgn0001123.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:95774" 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/GNAL#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:95774" 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/2774/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=2774" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00001745;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-041114-26" 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:2774" 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=GNAL&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 719516000<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
139312
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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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GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE, OLFACTORY TYPE; GNAL
|
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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">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
G-ALPHA-OLF
|
|
</span>
|
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</h4>
|
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</div>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GNAL" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GNAL</a></em></strong>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/18/57?start=-3&limit=10&highlight=57">18p11.21</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr18:11689264-11885685&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'})">18:11,689,264-11,885,685</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
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|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/18/57?start=-3&limit=10&highlight=57">
|
|
18p11.21
|
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</a>
|
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</span>
|
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</td>
|
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|
|
<td>
|
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<span class="mim-font">
|
|
Dystonia 25
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/615073"> 615073 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/139312" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/139312" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
|
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<h4>
|
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|
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</span>
|
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</h4>
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<p>The GNAL gene encodes a stimulatory G-alpha subunit of the G protein receptor. It was first identified as a G protein subunit that mediates odorant signaling in the olfactory epithelium and is thus expressed in the brain (summary by <a href="#6" class="mim-tip-reference" title="Fuchs, T., Saunders-Pullman, R., Masuho, I., Luciano, M. S., Raymond, D., Factor, S., Lang, A. E., Liang, T.-W., Trosch, R. M., White, S., Ainehsazan, E., Herve, D., Sharma, N., Ehrlich, M. E., Martemyanov, K. A., Bressman, S. B., Ozelius, L. J. <strong>Mutations in GNAL cause primary torsion dystonia.</strong> Nature Genet. 45: 88-92, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222958">Fuchs et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222958" 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>The G protein alpha subunit involved in olfaction was cloned in the rat by <a href="#8" class="mim-tip-reference" title="Jones, D. T., Reed, R. R. <strong>Golf: an olfactory neuron specific G protein involved in odorant signal transduction.</strong> Science 244: 790-795, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2499043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2499043</a>] [<a href="https://doi.org/10.1126/science.2499043" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2499043">Jones and Reed (1989)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2499043" 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>Although GNAL was first identified in the olfactory epithelium, it is also highly expressed in certain areas of the brain and appears to be coupled to the dopamine D1 receptor (DRD1; <a href="/entry/126449">126449</a>) (<a href="#7" class="mim-tip-reference" title="Herve, D., Levi-Strauss, M., Marey-Semper, I., Verney, C., Tassin, J.-P., Glowinski, J., Girault, J.-A. <strong>G(olf) and Gs in rat basal ganglia: possible involvement of G(olf) in the coupling of dopamine D1 receptor with adenylyl cyclase.</strong> J. Neurosci. 13: 2237-2248, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8478697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8478697</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.13-05-02237.1993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8478697">Herve et al., 1993</a>; <a href="#12" class="mim-tip-reference" title="Sakagami, H., Sawamura, Y., Kondo, H. <strong>Synchronous patchy pattern of gene expression for adenylyl cyclase and phosphodiesterase but discrete expression for G-protein in developing rat striatum.</strong> Brain Res. Molec. Brain Res. 33: 185-191, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8750876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8750876</a>] [<a href="https://doi.org/10.1016/0169-328x(95)00123-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8750876">Sakagami et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8750876+8478697" 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 Northern blot analysis, <a href="#15" class="mim-tip-reference" title="Vuoristo, J. T., Berrettini, W. H., Overhauser, J., Prockop, D. J., Ferraro, T. N., Ala-Kokko, L. <strong>Sequence and genomic organization of the human G-protein Golf-alpha gene (GNAL) on chromosome 18p11, a susceptibility region for bipolar disorder and schizophrenia.</strong> Molec. Psychiat. 5: 495-501, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11032382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11032382</a>] [<a href="https://doi.org/10.1038/sj.mp.4000758" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11032382">Vuoristo et al. (2000)</a> found an approximately 6-kb GNAL transcript in human brain. Highest expression was detected in caudate nucleus and amygdala. Sequencing the 3-prime UTR revealed that this transcript utilizes the most 3-prime polyadenylation signal at about 4.5 kb beyond the termination codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11032382" 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="Corradi, J. P., Ravyn, V., Robbins, A. K., Hagan, K. W., Peters, M. F., Bostwick, R., Buono, R. J., Berrettini, W. H., Furlong, S. T. <strong>Alternative transcripts and evidence of imprinting of GNAL on 18p11.2.</strong> Molec. Psychiat. 10: 1017-1025, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16044173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16044173</a>] [<a href="https://doi.org/10.1038/sj.mp.4001713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16044173">Corradi et al. (2005)</a> identified a transcriptional variant of GNAL, designated XLG(olf). XLG(olf) uses an alternate first exon, designated exon 1a, that is 5-prime to the originally identified start site and encodes a longer functional protein. G(olf) and XLG(olf) displayed different expression patterns in the central nervous system when heterologously expressed in Sf9 cells, and both functionally coupled to the dopamine D1 receptor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16044173" 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 GNAL was first identified in the olfactory epithelium, it is also highly expressed in certain areas of the brain and appears to be coupled to the dopamine D1 receptor (DRD1; <a href="/entry/126449">126449</a>) (<a href="#7" class="mim-tip-reference" title="Herve, D., Levi-Strauss, M., Marey-Semper, I., Verney, C., Tassin, J.-P., Glowinski, J., Girault, J.-A. <strong>G(olf) and Gs in rat basal ganglia: possible involvement of G(olf) in the coupling of dopamine D1 receptor with adenylyl cyclase.</strong> J. Neurosci. 13: 2237-2248, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8478697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8478697</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.13-05-02237.1993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8478697">Herve et al., 1993</a>; <a href="#12" class="mim-tip-reference" title="Sakagami, H., Sawamura, Y., Kondo, H. <strong>Synchronous patchy pattern of gene expression for adenylyl cyclase and phosphodiesterase but discrete expression for G-protein in developing rat striatum.</strong> Brain Res. Molec. Brain Res. 33: 185-191, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8750876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8750876</a>] [<a href="https://doi.org/10.1016/0169-328x(95)00123-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8750876">Sakagami et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8750876+8478697" 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="#11" class="mim-tip-reference" title="Ronnett, G. V., Snyder, S. H. <strong>Molecular messengers of olfaction.</strong> Trends Neurosci. 15: 508-513, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1282752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1282752</a>] [<a href="https://doi.org/10.1016/0166-2236(92)90104-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1282752">Ronnett and Snyder (1992)</a> reviewed the molecular messengers of olfaction. Molecular cloning has revealed a large family of putative odorant receptors localized to olfactory epithelium that display a 7-transmembrane-domain motif suggesting an association with G proteins. Very potent and rapid enhancement of both adenylyl cyclase and phosphoinositide turnover has been demonstrated in response to odorants both in isolated olfactory cilia and in primary olfactory receptor neuronal cultures. A Ca(2+)-calmodulin-dependent phosphodiesterase has been localized to olfactory cilia. Also, odorants have been shown to affect the levels of cGMP in olfactory receptor neurons. The involvement of multiple second messengers may provide mechanisms for both fine-tuning and desensitization of olfaction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1282752" 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="#9" class="mim-tip-reference" title="Mombaerts, P., Wang, F., Dulac, C., Vassar, R., Chao, S. K., Nemes, A., Mendelsohn, M., Edmondson, J., Axel, R. <strong>The molecular biology of olfactory perception.</strong> Cold Spring Harbor Symp. Quant. Biol. 61: 135-145, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9246442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9246442</a>]" pmid="9246442">Mombaerts et al. (1996)</a>, <a href="#3" class="mim-tip-reference" title="Buck, L. B. <strong>Information coding in the mammalian olfactory system.</strong> Cold Spring Harbor Symp. Quant. Biol. 61: 147-155, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9246443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9246443</a>]" pmid="9246443">Buck (1996)</a>, and <a href="#10" class="mim-tip-reference" title="Reed, R. R. <strong>Genetic approaches to mammalian olfaction.</strong> Cold Spring Harbor Symp. Quant. Biol. 61: 165-172, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9246445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9246445</a>]" pmid="9246445">Reed (1996)</a> reviewed the molecular biology and molecular genetics of mammalian olfaction. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9246445+9246443+9246442" 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="Corradi, J. P., Ravyn, V., Robbins, A. K., Hagan, K. W., Peters, M. F., Bostwick, R., Buono, R. J., Berrettini, W. H., Furlong, S. T. <strong>Alternative transcripts and evidence of imprinting of GNAL on 18p11.2.</strong> Molec. Psychiat. 10: 1017-1025, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16044173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16044173</a>] [<a href="https://doi.org/10.1038/sj.mp.4001713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16044173">Corradi et al. (2005)</a> stated that there are CpG islands in the vicinity of the alternative first exons of the GNAL variants that are differentially methylated. They noted that genetic studies implicating the 18p11.2 region in susceptibility to bipolar disorder and schizophrenia (see <a href="/entry/603206">603206</a>) have observed parent-of-origin effects that may be explained by genomic imprinting. <a href="#4" class="mim-tip-reference" title="Corradi, J. P., Ravyn, V., Robbins, A. K., Hagan, K. W., Peters, M. F., Bostwick, R., Buono, R. J., Berrettini, W. H., Furlong, S. T. <strong>Alternative transcripts and evidence of imprinting of GNAL on 18p11.2.</strong> Molec. Psychiat. 10: 1017-1025, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16044173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16044173</a>] [<a href="https://doi.org/10.1038/sj.mp.4001713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16044173">Corradi et al. (2005)</a> suggested that GNAL and possibly other genes in the region are subject to epigenetic regulation of potential significance in the etiology of schizophrenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16044173" 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>G-alpha(olf) is highly expressed in striatal neurons in the basal ganglia. Using mutant mouse studies, <a href="#5" class="mim-tip-reference" title="Corvol, J. C., Studler, J. M., Schonn, J. S., Girault, J. A., Herve, D. <strong>Galpha(olf) is necessary for coupling D1 and A2a receptors to adenylyl cyclase in the striatum.</strong> J. Neurochem. 76: 1585-1588, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11238742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11238742</a>] [<a href="https://doi.org/10.1046/j.1471-4159.2001.00201.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11238742">Corvol et al. (2001)</a> found that G-alpha(olf) has an obligatory role in the coupling of adenylyl cyclase responses to dopamine and adenosine in the basal ganglia via the Drd1 and Adora2a (<a href="/entry/102776">102776</a>) receptors. ADCY5 (<a href="/entry/600293">600293</a>) is the adenylyl cyclase expressed in the brain (summary by <a href="#6" class="mim-tip-reference" title="Fuchs, T., Saunders-Pullman, R., Masuho, I., Luciano, M. S., Raymond, D., Factor, S., Lang, A. E., Liang, T.-W., Trosch, R. M., White, S., Ainehsazan, E., Herve, D., Sharma, N., Ehrlich, M. E., Martemyanov, K. A., Bressman, S. B., Ozelius, L. J. <strong>Mutations in GNAL cause primary torsion dystonia.</strong> Nature Genet. 45: 88-92, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222958">Fuchs et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23222958+11238742" 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="#15" class="mim-tip-reference" title="Vuoristo, J. T., Berrettini, W. H., Overhauser, J., Prockop, D. J., Ferraro, T. N., Ala-Kokko, L. <strong>Sequence and genomic organization of the human G-protein Golf-alpha gene (GNAL) on chromosome 18p11, a susceptibility region for bipolar disorder and schizophrenia.</strong> Molec. Psychiat. 5: 495-501, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11032382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11032382</a>] [<a href="https://doi.org/10.1038/sj.mp.4000758" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11032382">Vuoristo et al. (2000)</a> determined that the GNAL gene contains 12 coding exons and spans over 80 kb. The promoter region has no consensus CCAAT or TATA boxes, and the 5-prime UTR contains multiple transcription start sites. The 3-prime UTR contains 2 Alu elements and 3 polyadenylation sequences, the most 5-prime of which is between the 2 Alu repeats. Intron 5 contains a CA repeat that may be useful for linkage analysis since there are at least 11 alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11032382" 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="#14" class="mim-tip-reference" title="Vuoristo, J. T., Berrettini, W. H., Ala-Kokko, L. <strong>C18orf2, a novel, highly conserved intronless gene within intron 5 of the GNAL gene on chromosome 18p11.</strong> Cytogenet. Cell Genet. 93: 19-22, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11474171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11474171</a>] [<a href="https://doi.org/10.1159/000056940" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11474171">Vuoristo et al. (2001)</a> identified the C18ORF2 gene (<a href="/entry/606486">606486</a>) within intron 5 of the GNAL gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11474171" 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="#16" class="mim-tip-reference" title="Wilkie, T. M., Gilbert, D. J., Olsen, A. S., Chen, X.-N., Amatruda, T. T., Korenberg, J. R., Trask, B. J., de Jong, P., Reed, R. R., Simon, M. I., Jenkins, N. A., Copeland, N. G. <strong>Evolution of the mammalian G protein alpha subunit multigene family.</strong> Nature Genet. 1: 85-91, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1302014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1302014</a>] [<a href="https://doi.org/10.1038/ng0592-85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1302014">Wilkie et al. (1992)</a> used a rat probe to identify restriction fragment length variants in the mouse for mapping the Gnal gene to mouse chromosome 18 in an interspecific backcross of C57BL/6J and Mus spretus. <a href="#13" class="mim-tip-reference" title="Schwab, S. G., Hallmayer, J., Lerer, B., Albus, M., Borrmann, M., Honig, S., Strauss, M., Segman, R., Lichtermann, D., Knapp, M., Trixler, M., Maier, W., Wildenauer, D. B. <strong>Support for a chromosome 18p locus conferring susceptibility to functional psychoses in families with schizophrenia, by association and linkage analysis.</strong> Am. J. Hum. Genet. 63: 1139-1152, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758604</a>] [<a href="https://doi.org/10.1086/302046" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9758604">Schwab et al. (1998)</a> stated that the human GNAL gene is located on chromosome 18p, between D18S53 distally and D18S71 proximally. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1302014+9758604" 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 genomic sequence analysis, <a href="#15" class="mim-tip-reference" title="Vuoristo, J. T., Berrettini, W. H., Overhauser, J., Prockop, D. J., Ferraro, T. N., Ala-Kokko, L. <strong>Sequence and genomic organization of the human G-protein Golf-alpha gene (GNAL) on chromosome 18p11, a susceptibility region for bipolar disorder and schizophrenia.</strong> Molec. Psychiat. 5: 495-501, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11032382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11032382</a>] [<a href="https://doi.org/10.1038/sj.mp.4000758" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11032382">Vuoristo et al. (2000)</a> mapped the GNAL gene to chromosome 18p11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11032382" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By exome sequencing of 2 large families with autosomal dominant dystonia-25 (DYT25; <a href="/entry/615073">615073</a>), <a href="#6" class="mim-tip-reference" title="Fuchs, T., Saunders-Pullman, R., Masuho, I., Luciano, M. S., Raymond, D., Factor, S., Lang, A. E., Liang, T.-W., Trosch, R. M., White, S., Ainehsazan, E., Herve, D., Sharma, N., Ehrlich, M. E., Martemyanov, K. A., Bressman, S. B., Ozelius, L. J. <strong>Mutations in GNAL cause primary torsion dystonia.</strong> Nature Genet. 45: 88-92, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222958">Fuchs et al. (2013)</a> identified 2 different heterozygous mutations in the GNAL gene (<a href="#0001">139312.0001</a> and <a href="#0002">139312.0002</a>) that segregated with the disorder in each family. Screening of the GNAL gene identified heterozygous pathogenic mutations (see, e.g., <a href="#0003">139312.0003</a>-<a href="#0006">139312.0006</a>) in 6 of 39 additional families with a similar disorder. In vitro functional expression studies in a cell-based bioluminescence reporter system indicated that a nonsense mutation (S293X; <a href="#0002">139312.0002</a>) did not support any DRD1-driven responses, whereas wildtype GNAL caused a rapid increase in the signal. A V137M missense mutation (<a href="#0001">139312.0001</a>) showed an intermediate phenotype, consistent with impaired association of G(s)-olf with the G-beta-gamma subunits. The findings suggested that the mutations resulted in a loss of function. The identification of GNAL mutations indicated that primary abnormalities in postsynaptic DRD1 and/or ADORA2A transmission in the basal ganglia may lead to dystonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222958" 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="#1" class="mim-tip-reference" title="Belluscio, L., Gold, G. H., Nemes, A., Axel, R. <strong>Mice deficient in G(olf) are anosmic.</strong> Neuron 20: 69-81, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9459443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9459443</a>] [<a href="https://doi.org/10.1016/s0896-6273(00)80435-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9459443">Belluscio et al. (1998)</a> found that mice homozygous for a null mutation in G(olf) show a striking reduction in the electrophysiologic response of primary olfactory sensory neurons to a wide variety of odors. Despite this profound diminution in response to odors, the topographic map of primary sensory projections to the olfactory bulb remained unaltered in G(olf) mutants. Greater than 75% of the G(olf) mutant mice were unable to nurse and died within 2 days after birth. Rare surviving homozygotes mated and were fertile, but mutant females exhibited inadequate maternal behaviors. Surviving homozygous mutant mice also exhibited hyperactive behaviors. These behavioral phenotypes, taken together with the pattern of G(olf) expression, suggested that G(olf) is required for olfactory signal transduction and may also function as an essential signaling molecule more centrally in the brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9459443" 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">rs398122923 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122923;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=rs398122923" 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=rs398122923" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000033101 OR RCV003236771" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033101, RCV003236771" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033101...</a>
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<p>In 7 affected members of a family with autosomal dominant dystonia-25 (DYT25; <a href="/entry/615073">615073</a>) originally reported by <a href="#2" class="mim-tip-reference" title="Bressman, S. B., Heiman, G. A., Nygaard, T. G., Ozelius, L. J., Hunt, A. L., Brin, M. F., Gordon, M. F., Moskowitz, C. B., de Leon, D., Burke, R. E., Fahn, S., Risch, N. J., Beakefield, X. O., Kramer, P. L. <strong>A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity.</strong> Neurology 44: 283-287, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8309575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8309575</a>] [<a href="https://doi.org/10.1212/wnl.44.2.283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8309575">Bressman et al. (1994)</a>, <a href="#6" class="mim-tip-reference" title="Fuchs, T., Saunders-Pullman, R., Masuho, I., Luciano, M. S., Raymond, D., Factor, S., Lang, A. E., Liang, T.-W., Trosch, R. M., White, S., Ainehsazan, E., Herve, D., Sharma, N., Ehrlich, M. E., Martemyanov, K. A., Bressman, S. B., Ozelius, L. J. <strong>Mutations in GNAL cause primary torsion dystonia.</strong> Nature Genet. 45: 88-92, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222958">Fuchs et al. (2013)</a> identified a heterozygous 409G-A transition in the GNAL gene, resulting in a val137-to-met (V137M) substitution at a highly conserved residue. The mutation, which was identified by exome sequencing, was not found in 572 control chromosomes or in 3,500 European exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8309575+23222958" 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">rs398122924 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122924;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=rs398122924" 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=rs398122924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000033102" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033102" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033102</a>
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<p>In 6 affected members of a family with dystonia-25 (DYT25; <a href="/entry/615073">615073</a>), <a href="#6" class="mim-tip-reference" title="Fuchs, T., Saunders-Pullman, R., Masuho, I., Luciano, M. S., Raymond, D., Factor, S., Lang, A. E., Liang, T.-W., Trosch, R. M., White, S., Ainehsazan, E., Herve, D., Sharma, N., Ehrlich, M. E., Martemyanov, K. A., Bressman, S. B., Ozelius, L. J. <strong>Mutations in GNAL cause primary torsion dystonia.</strong> Nature Genet. 45: 88-92, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222958">Fuchs et al. (2013)</a> identified a heterozygous 878C-A transversion in the GNAL gene, resulting in a ser293-to-ter (S293X) substitution. The mutation, which was found by exome sequencing, was not found in 572 control chromosomes or in 3,500 European exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222958" 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">rs398122925 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122925;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=rs398122925" 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=rs398122925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000033103" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033103" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033103</a>
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<p>In 2 sibs with dystonia-25 (DYT25; <a href="/entry/615073">615073</a>), <a href="#6" class="mim-tip-reference" title="Fuchs, T., Saunders-Pullman, R., Masuho, I., Luciano, M. S., Raymond, D., Factor, S., Lang, A. E., Liang, T.-W., Trosch, R. M., White, S., Ainehsazan, E., Herve, D., Sharma, N., Ehrlich, M. E., Martemyanov, K. A., Bressman, S. B., Ozelius, L. J. <strong>Mutations in GNAL cause primary torsion dystonia.</strong> Nature Genet. 45: 88-92, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222958">Fuchs et al. (2013)</a> identified a heterozygous 463G-A transition in the GNAL gene, resulting in a glu155-to-lys (E155K) substitution at a highly conserved residue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222958" 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">rs398122926 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122926;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=rs398122926" 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=rs398122926" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000033104" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033104" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033104</a>
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<p>In 4 members of a family with dystonia-25 (DYT25; <a href="/entry/615073">615073</a>), <a href="#6" class="mim-tip-reference" title="Fuchs, T., Saunders-Pullman, R., Masuho, I., Luciano, M. S., Raymond, D., Factor, S., Lang, A. E., Liang, T.-W., Trosch, R. M., White, S., Ainehsazan, E., Herve, D., Sharma, N., Ehrlich, M. E., Martemyanov, K. A., Bressman, S. B., Ozelius, L. J. <strong>Mutations in GNAL cause primary torsion dystonia.</strong> Nature Genet. 45: 88-92, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222958">Fuchs et al. (2013)</a> identified a heterozygous 1-bp insertion (283insT) in the GNAL gene, resulting in a frameshift and premature termination (Ser95fsTer110). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222958" 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">rs398122927 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122927;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=rs398122927" 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=rs398122927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000033105" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033105" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033105</a>
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<p>In 3 members of a family with dystonia-25 (DYT25; <a href="/entry/615073">615073</a>), <a href="#6" class="mim-tip-reference" title="Fuchs, T., Saunders-Pullman, R., Masuho, I., Luciano, M. S., Raymond, D., Factor, S., Lang, A. E., Liang, T.-W., Trosch, R. M., White, S., Ainehsazan, E., Herve, D., Sharma, N., Ehrlich, M. E., Martemyanov, K. A., Bressman, S. B., Ozelius, L. J. <strong>Mutations in GNAL cause primary torsion dystonia.</strong> Nature Genet. 45: 88-92, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222958">Fuchs et al. (2013)</a> identified a heterozygous 1-bp insertion (591insA) in the GNAL gene, resulting in a frameshift and premature termination (Arg198fsTer210). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 DYSTONIA 25</strong>
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GNAL, ARG21TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398122928 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122928;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=rs398122928" 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=rs398122928" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000033106" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033106" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033106</a>
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<span class="mim-text-font">
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<p>In 3 sibs with dystonia-25 (DYT25; <a href="/entry/615073">615073</a>), <a href="#6" class="mim-tip-reference" title="Fuchs, T., Saunders-Pullman, R., Masuho, I., Luciano, M. S., Raymond, D., Factor, S., Lang, A. E., Liang, T.-W., Trosch, R. M., White, S., Ainehsazan, E., Herve, D., Sharma, N., Ehrlich, M. E., Martemyanov, K. A., Bressman, S. B., Ozelius, L. J. <strong>Mutations in GNAL cause primary torsion dystonia.</strong> Nature Genet. 45: 88-92, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222958">Fuchs et al. (2013)</a> identified a heterozygous 61C-T transition in the GNAL gene, resulting in an arg21-to-ter (R21X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Belluscio1998" class="mim-anchor"></a>
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Belluscio, L., Gold, G. H., Nemes, A., Axel, R.
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<strong>Mice deficient in G(olf) are anosmic.</strong>
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Neuron 20: 69-81, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9459443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9459443</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9459443" 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(00)80435-3" target="_blank">Full Text</a>]
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<a id="Bressman1994" class="mim-anchor"></a>
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Bressman, S. B., Heiman, G. A., Nygaard, T. G., Ozelius, L. J., Hunt, A. L., Brin, M. F., Gordon, M. F., Moskowitz, C. B., de Leon, D., Burke, R. E., Fahn, S., Risch, N. J., Beakefield, X. O., Kramer, P. L.
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<strong>A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity.</strong>
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Neurology 44: 283-287, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8309575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8309575</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8309575" 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/10.1212/wnl.44.2.283" target="_blank">Full Text</a>]
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Buck, L. B.
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<strong>Information coding in the mammalian olfactory system.</strong>
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Cold Spring Harbor Symp. Quant. Biol. 61: 147-155, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9246443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9246443</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9246443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Corradi2005" class="mim-anchor"></a>
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Corradi, J. P., Ravyn, V., Robbins, A. K., Hagan, K. W., Peters, M. F., Bostwick, R., Buono, R. J., Berrettini, W. H., Furlong, S. T.
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<strong>Alternative transcripts and evidence of imprinting of GNAL on 18p11.2.</strong>
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Molec. Psychiat. 10: 1017-1025, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16044173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16044173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16044173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.mp.4001713" target="_blank">Full Text</a>]
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Corvol, J. C., Studler, J. M., Schonn, J. S., Girault, J. A., Herve, D.
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<strong>Galpha(olf) is necessary for coupling D1 and A2a receptors to adenylyl cyclase in the striatum.</strong>
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J. Neurochem. 76: 1585-1588, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11238742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11238742</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11238742" 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/10.1046/j.1471-4159.2001.00201.x" target="_blank">Full Text</a>]
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<a id="Fuchs2013" class="mim-anchor"></a>
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Fuchs, T., Saunders-Pullman, R., Masuho, I., Luciano, M. S., Raymond, D., Factor, S., Lang, A. E., Liang, T.-W., Trosch, R. M., White, S., Ainehsazan, E., Herve, D., Sharma, N., Ehrlich, M. E., Martemyanov, K. A., Bressman, S. B., Ozelius, L. J.
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<strong>Mutations in GNAL cause primary torsion dystonia.</strong>
|
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Nature Genet. 45: 88-92, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222958[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=23222958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.2496" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Herve1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Herve, D., Levi-Strauss, M., Marey-Semper, I., Verney, C., Tassin, J.-P., Glowinski, J., Girault, J.-A.
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<strong>G(olf) and Gs in rat basal ganglia: possible involvement of G(olf) in the coupling of dopamine D1 receptor with adenylyl cyclase.</strong>
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J. Neurosci. 13: 2237-2248, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8478697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8478697</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8478697" 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/10.1523/JNEUROSCI.13-05-02237.1993" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Jones1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jones, D. T., Reed, R. R.
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|
<strong>Golf: an olfactory neuron specific G protein involved in odorant signal transduction.</strong>
|
|
Science 244: 790-795, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2499043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2499043</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2499043" 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/10.1126/science.2499043" 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="9" class="mim-anchor"></a>
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<a id="Mombaerts1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mombaerts, P., Wang, F., Dulac, C., Vassar, R., Chao, S. K., Nemes, A., Mendelsohn, M., Edmondson, J., Axel, R.
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<strong>The molecular biology of olfactory perception.</strong>
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Cold Spring Harbor Symp. Quant. Biol. 61: 135-145, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9246442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9246442</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9246442" 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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<a id="10" class="mim-anchor"></a>
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<a id="Reed1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Reed, R. R.
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<strong>Genetic approaches to mammalian olfaction.</strong>
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Cold Spring Harbor Symp. Quant. Biol. 61: 165-172, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9246445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9246445</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9246445" 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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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Ronnett1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ronnett, G. V., Snyder, S. H.
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<strong>Molecular messengers of olfaction.</strong>
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Trends Neurosci. 15: 508-513, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1282752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1282752</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1282752" 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/10.1016/0166-2236(92)90104-g" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Sakagami1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sakagami, H., Sawamura, Y., Kondo, H.
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<strong>Synchronous patchy pattern of gene expression for adenylyl cyclase and phosphodiesterase but discrete expression for G-protein in developing rat striatum.</strong>
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Brain Res. Molec. Brain Res. 33: 185-191, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8750876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8750876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8750876" 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/10.1016/0169-328x(95)00123-a" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Schwab1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schwab, S. G., Hallmayer, J., Lerer, B., Albus, M., Borrmann, M., Honig, S., Strauss, M., Segman, R., Lichtermann, D., Knapp, M., Trixler, M., Maier, W., Wildenauer, D. B.
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<strong>Support for a chromosome 18p locus conferring susceptibility to functional psychoses in families with schizophrenia, by association and linkage analysis.</strong>
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Am. J. Hum. Genet. 63: 1139-1152, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758604</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9758604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302046" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Vuoristo2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vuoristo, J. T., Berrettini, W. H., Ala-Kokko, L.
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<strong>C18orf2, a novel, highly conserved intronless gene within intron 5 of the GNAL gene on chromosome 18p11.</strong>
|
|
Cytogenet. Cell Genet. 93: 19-22, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11474171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11474171</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11474171" 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/10.1159/000056940" target="_blank">Full Text</a>]
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Vuoristo2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vuoristo, J. T., Berrettini, W. H., Overhauser, J., Prockop, D. J., Ferraro, T. N., Ala-Kokko, L.
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<strong>Sequence and genomic organization of the human G-protein Golf-alpha gene (GNAL) on chromosome 18p11, a susceptibility region for bipolar disorder and schizophrenia.</strong>
|
|
Molec. Psychiat. 5: 495-501, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11032382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11032382</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11032382" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.mp.4000758" target="_blank">Full Text</a>]
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Wilkie1992" class="mim-anchor"></a>
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<div class="">
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Wilkie, T. M., Gilbert, D. J., Olsen, A. S., Chen, X.-N., Amatruda, T. T., Korenberg, J. R., Trask, B. J., de Jong, P., Reed, R. R., Simon, M. I., Jenkins, N. A., Copeland, N. G.
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<strong>Evolution of the mammalian G protein alpha subunit multigene family.</strong>
|
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Nature Genet. 1: 85-91, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1302014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1302014</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1302014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0592-85" target="_blank">Full Text</a>]
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</p>
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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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Cassandra L. Kniffin - updated : 2/12/2013
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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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Matthew B. Gross - updated : 9/4/2009<br>Patricia A. Hartz - updated : 8/9/2006<br>John Logan Black, III - updated : 7/10/2006<br>Victor A. McKusick - updated : 10/26/1998<br>Victor A. McKusick - updated : 3/23/1998<br>Victor A. McKusick - updated : 9/4/1997
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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 : 5/19/1992
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/12/2018
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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 : 09/03/2013<br>carol : 2/14/2013<br>ckniffin : 2/12/2013<br>mgross : 9/4/2009<br>wwang : 8/10/2006<br>terry : 8/9/2006<br>carol : 7/11/2006<br>carol : 7/10/2006<br>carol : 10/26/1998<br>carol : 7/2/1998<br>alopez : 3/23/1998<br>terry : 3/19/1998<br>mark : 9/11/1997<br>terry : 9/4/1997<br>carol : 1/11/1993<br>carol : 6/11/1992<br>carol : 5/19/1992
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
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<strong>*</strong> 139312
|
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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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GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE, OLFACTORY TYPE; GNAL
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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">
|
|
G-ALPHA-OLF
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GNAL</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 719516000;
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
|
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Cytogenetic location: 18p11.21
|
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Genomic coordinates <span class="small">(GRCh38)</span> : 18:11,689,264-11,885,685 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
18p11.21
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Dystonia 25
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
615073
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The GNAL gene encodes a stimulatory G-alpha subunit of the G protein receptor. It was first identified as a G protein subunit that mediates odorant signaling in the olfactory epithelium and is thus expressed in the brain (summary by Fuchs et al., 2013). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The G protein alpha subunit involved in olfaction was cloned in the rat by Jones and Reed (1989). </p><p>Although GNAL was first identified in the olfactory epithelium, it is also highly expressed in certain areas of the brain and appears to be coupled to the dopamine D1 receptor (DRD1; 126449) (Herve et al., 1993; Sakagami et al., 1995). </p><p>By Northern blot analysis, Vuoristo et al. (2000) found an approximately 6-kb GNAL transcript in human brain. Highest expression was detected in caudate nucleus and amygdala. Sequencing the 3-prime UTR revealed that this transcript utilizes the most 3-prime polyadenylation signal at about 4.5 kb beyond the termination codon. </p><p>Corradi et al. (2005) identified a transcriptional variant of GNAL, designated XLG(olf). XLG(olf) uses an alternate first exon, designated exon 1a, that is 5-prime to the originally identified start site and encodes a longer functional protein. G(olf) and XLG(olf) displayed different expression patterns in the central nervous system when heterologously expressed in Sf9 cells, and both functionally coupled to the dopamine D1 receptor. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Although GNAL was first identified in the olfactory epithelium, it is also highly expressed in certain areas of the brain and appears to be coupled to the dopamine D1 receptor (DRD1; 126449) (Herve et al., 1993; Sakagami et al., 1995). </p><p>Ronnett and Snyder (1992) reviewed the molecular messengers of olfaction. Molecular cloning has revealed a large family of putative odorant receptors localized to olfactory epithelium that display a 7-transmembrane-domain motif suggesting an association with G proteins. Very potent and rapid enhancement of both adenylyl cyclase and phosphoinositide turnover has been demonstrated in response to odorants both in isolated olfactory cilia and in primary olfactory receptor neuronal cultures. A Ca(2+)-calmodulin-dependent phosphodiesterase has been localized to olfactory cilia. Also, odorants have been shown to affect the levels of cGMP in olfactory receptor neurons. The involvement of multiple second messengers may provide mechanisms for both fine-tuning and desensitization of olfaction. </p><p>Mombaerts et al. (1996), Buck (1996), and Reed (1996) reviewed the molecular biology and molecular genetics of mammalian olfaction. </p><p>Corradi et al. (2005) stated that there are CpG islands in the vicinity of the alternative first exons of the GNAL variants that are differentially methylated. They noted that genetic studies implicating the 18p11.2 region in susceptibility to bipolar disorder and schizophrenia (see 603206) have observed parent-of-origin effects that may be explained by genomic imprinting. Corradi et al. (2005) suggested that GNAL and possibly other genes in the region are subject to epigenetic regulation of potential significance in the etiology of schizophrenia. </p><p>G-alpha(olf) is highly expressed in striatal neurons in the basal ganglia. Using mutant mouse studies, Corvol et al. (2001) found that G-alpha(olf) has an obligatory role in the coupling of adenylyl cyclase responses to dopamine and adenosine in the basal ganglia via the Drd1 and Adora2a (102776) receptors. ADCY5 (600293) is the adenylyl cyclase expressed in the brain (summary by Fuchs et al., 2013). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Vuoristo et al. (2000) determined that the GNAL gene contains 12 coding exons and spans over 80 kb. The promoter region has no consensus CCAAT or TATA boxes, and the 5-prime UTR contains multiple transcription start sites. The 3-prime UTR contains 2 Alu elements and 3 polyadenylation sequences, the most 5-prime of which is between the 2 Alu repeats. Intron 5 contains a CA repeat that may be useful for linkage analysis since there are at least 11 alleles. </p><p>Vuoristo et al. (2001) identified the C18ORF2 gene (606486) within intron 5 of the GNAL gene. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Wilkie et al. (1992) used a rat probe to identify restriction fragment length variants in the mouse for mapping the Gnal gene to mouse chromosome 18 in an interspecific backcross of C57BL/6J and Mus spretus. Schwab et al. (1998) stated that the human GNAL gene is located on chromosome 18p, between D18S53 distally and D18S71 proximally. </p><p>By genomic sequence analysis, Vuoristo et al. (2000) mapped the GNAL gene to chromosome 18p11. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By exome sequencing of 2 large families with autosomal dominant dystonia-25 (DYT25; 615073), Fuchs et al. (2013) identified 2 different heterozygous mutations in the GNAL gene (139312.0001 and 139312.0002) that segregated with the disorder in each family. Screening of the GNAL gene identified heterozygous pathogenic mutations (see, e.g., 139312.0003-139312.0006) in 6 of 39 additional families with a similar disorder. In vitro functional expression studies in a cell-based bioluminescence reporter system indicated that a nonsense mutation (S293X; 139312.0002) did not support any DRD1-driven responses, whereas wildtype GNAL caused a rapid increase in the signal. A V137M missense mutation (139312.0001) showed an intermediate phenotype, consistent with impaired association of G(s)-olf with the G-beta-gamma subunits. The findings suggested that the mutations resulted in a loss of function. The identification of GNAL mutations indicated that primary abnormalities in postsynaptic DRD1 and/or ADORA2A transmission in the basal ganglia may lead to dystonia. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Belluscio et al. (1998) found that mice homozygous for a null mutation in G(olf) show a striking reduction in the electrophysiologic response of primary olfactory sensory neurons to a wide variety of odors. Despite this profound diminution in response to odors, the topographic map of primary sensory projections to the olfactory bulb remained unaltered in G(olf) mutants. Greater than 75% of the G(olf) mutant mice were unable to nurse and died within 2 days after birth. Rare surviving homozygotes mated and were fertile, but mutant females exhibited inadequate maternal behaviors. Surviving homozygous mutant mice also exhibited hyperactive behaviors. These behavioral phenotypes, taken together with the pattern of G(olf) expression, suggested that G(olf) is required for olfactory signal transduction and may also function as an essential signaling molecule more centrally in the brain. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>6 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 DYSTONIA 25</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GNAL, VAL137MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398122923,
|
|
|
|
|
|
|
|
ClinVar: RCV000033101, RCV003236771
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 7 affected members of a family with autosomal dominant dystonia-25 (DYT25; 615073) originally reported by Bressman et al. (1994), Fuchs et al. (2013) identified a heterozygous 409G-A transition in the GNAL gene, resulting in a val137-to-met (V137M) substitution at a highly conserved residue. The mutation, which was identified by exome sequencing, was not found in 572 control chromosomes or in 3,500 European exomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 DYSTONIA 25</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GNAL, SER293TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398122924,
|
|
|
|
|
|
|
|
ClinVar: RCV000033102
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 6 affected members of a family with dystonia-25 (DYT25; 615073), Fuchs et al. (2013) identified a heterozygous 878C-A transversion in the GNAL gene, resulting in a ser293-to-ter (S293X) substitution. The mutation, which was found by exome sequencing, was not found in 572 control chromosomes or in 3,500 European exomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 DYSTONIA 25</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GNAL, GLU155LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398122925,
|
|
|
|
|
|
|
|
ClinVar: RCV000033103
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs with dystonia-25 (DYT25; 615073), Fuchs et al. (2013) identified a heterozygous 463G-A transition in the GNAL gene, resulting in a glu155-to-lys (E155K) substitution at a highly conserved residue. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 DYSTONIA 25</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GNAL, 1-BP INS, 283T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398122926,
|
|
|
|
|
|
|
|
ClinVar: RCV000033104
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 members of a family with dystonia-25 (DYT25; 615073), Fuchs et al. (2013) identified a heterozygous 1-bp insertion (283insT) in the GNAL gene, resulting in a frameshift and premature termination (Ser95fsTer110). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 DYSTONIA 25</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GNAL, 1-BP INS, 591A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398122927,
|
|
|
|
|
|
|
|
ClinVar: RCV000033105
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 members of a family with dystonia-25 (DYT25; 615073), Fuchs et al. (2013) identified a heterozygous 1-bp insertion (591insA) in the GNAL gene, resulting in a frameshift and premature termination (Arg198fsTer210). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 DYSTONIA 25</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GNAL, ARG21TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398122928,
|
|
|
|
|
|
|
|
ClinVar: RCV000033106
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 sibs with dystonia-25 (DYT25; 615073), Fuchs et al. (2013) identified a heterozygous 61C-T transition in the GNAL gene, resulting in an arg21-to-ter (R21X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Belluscio, L., Gold, G. H., Nemes, A., Axel, R.
|
|
<strong>Mice deficient in G(olf) are anosmic.</strong>
|
|
Neuron 20: 69-81, 1998.
|
|
|
|
|
|
[PubMed: 9459443]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0896-6273(00)80435-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bressman, S. B., Heiman, G. A., Nygaard, T. G., Ozelius, L. J., Hunt, A. L., Brin, M. F., Gordon, M. F., Moskowitz, C. B., de Leon, D., Burke, R. E., Fahn, S., Risch, N. J., Beakefield, X. O., Kramer, P. L.
|
|
<strong>A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity.</strong>
|
|
Neurology 44: 283-287, 1994.
|
|
|
|
|
|
[PubMed: 8309575]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.44.2.283]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Buck, L. B.
|
|
<strong>Information coding in the mammalian olfactory system.</strong>
|
|
Cold Spring Harbor Symp. Quant. Biol. 61: 147-155, 1996.
|
|
|
|
|
|
[PubMed: 9246443]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Corradi, J. P., Ravyn, V., Robbins, A. K., Hagan, K. W., Peters, M. F., Bostwick, R., Buono, R. J., Berrettini, W. H., Furlong, S. T.
|
|
<strong>Alternative transcripts and evidence of imprinting of GNAL on 18p11.2.</strong>
|
|
Molec. Psychiat. 10: 1017-1025, 2005.
|
|
|
|
|
|
[PubMed: 16044173]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.mp.4001713]
|
|
|
|
|
|
</p>
|
|
</li>
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Fuchs, T., Saunders-Pullman, R., Masuho, I., Luciano, M. S., Raymond, D., Factor, S., Lang, A. E., Liang, T.-W., Trosch, R. M., White, S., Ainehsazan, E., Herve, D., Sharma, N., Ehrlich, M. E., Martemyanov, K. A., Bressman, S. B., Ozelius, L. J.
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<strong>Mutations in GNAL cause primary torsion dystonia.</strong>
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Nature Genet. 45: 88-92, 2013.
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Jones, D. T., Reed, R. R.
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<strong>Golf: an olfactory neuron specific G protein involved in odorant signal transduction.</strong>
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Science 244: 790-795, 1989.
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Reed, R. R.
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<strong>Genetic approaches to mammalian olfaction.</strong>
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Cold Spring Harbor Symp. Quant. Biol. 61: 165-172, 1996.
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Sakagami, H., Sawamura, Y., Kondo, H.
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<strong>Synchronous patchy pattern of gene expression for adenylyl cyclase and phosphodiesterase but discrete expression for G-protein in developing rat striatum.</strong>
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Wilkie, T. M., Gilbert, D. J., Olsen, A. S., Chen, X.-N., Amatruda, T. T., Korenberg, J. R., Trask, B. J., de Jong, P., Reed, R. R., Simon, M. I., Jenkins, N. A., Copeland, N. G.
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