2929 lines
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- *609023 - PNKD METALLO-BETA-LACTAMASE DOMAIN-CONTAINING PROTEIN; PNKD
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- OMIM
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<p>
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<span class="h4">*609023</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/609023">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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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 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=ENSG00000127838;t=ENST00000273077" 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=25953" 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=609023" 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=ENSG00000127838;t=ENST00000273077" 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_001077399,NM_015488,NM_022572,XM_017003771,XM_017003772" 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_015488" 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=609023" 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=11369&isoform_id=11369_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/PNKD" 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/6330255,12804161,15808969,15808980,16551143,18088914,21654752,21666302,21703352,22209034,37182482,37182625,50949293,59006535,116642885,116642887,119591008,119591009,119591010,119591011,119591012,158260757,158563846,444738895,1034612966,1034612968,2462571714,2462571716" 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/Q8N490" 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=25953" 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=ENSG00000127838;t=ENST00000273077" 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=PNKD" 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=PNKD" 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+25953" 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/PNKD" 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:25953" 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/25953" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr2&hgg_gene=ENST00000273077.9&hgg_start=218270519&hgg_end=218346793&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://medlineplus.gov/genetics/gene/pnkd" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609023[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=609023[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/ENSG00000127838" 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=PNKD" 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=PNKD" 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=PNKD" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PNKD&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/PA33476" 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:9153" 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://www.mousephenotype.org/data/genes/MGI:1930773" 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/PNKD#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:1930773" 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/25953/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=25953" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050208-278" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=PNKD&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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609023
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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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PNKD METALLO-BETA-LACTAMASE DOMAIN-CONTAINING PROTEIN; PNKD
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
MYOFIBRILLOGENESIS REGULATOR 1; MR1<br />
|
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TRANSACTIVATED BY HEPATITIS C VIRUS CORE PROTEIN 2; TAHCCP2<br />
|
|
BRAIN PROTEIN 17, MOUSE, HOMOLOG OF; BRP17<br />
|
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KIAA1184
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PNKD" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PNKD</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/2/1003?start=-3&limit=10&highlight=1003">2q35</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:218270519-218346793&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">2:218,270,519-218,346,793</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/2/1003?start=-3&limit=10&highlight=1003">
|
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2q35
|
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</a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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Paroxysmal nonkinesigenic dyskinesia 1
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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|
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<a href="/entry/118800"> 118800 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal 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">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/609023" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/609023" 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>
|
|
</span>
|
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</h4>
|
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated adult brain cDNA library, <a href="#5" class="mim-tip-reference" title="Hirosawa, M., Nagase, T., Ishikawa, K., Kikuno, R., Nomura, N., Ohara, O. <strong>Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.</strong> DNA Res. 6: 329-336, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10574461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10574461</a>] [<a href="https://doi.org/10.1093/dnares/6.5.329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10574461">Hirosawa et al. (1999)</a> cloned KIAA1184. The transcript contains a repetitive sequence in the 3-prime UTR, and the deduced 380-amino acid protein shares 43% identity over 260 amino acids with human hydroxyacylglutathione hydrolase (HAGH; <a href="/entry/138760">138760</a>). RT-PCR ELISA detected KIAA1184 expression in all tissues and specific brain regions examined. Highest expression was in adult brain, followed by fetal brain, skeletal muscle, and ovary, with lower expression in spleen, heart, testis, lung, liver, kidney, fetal liver, and pancreas. Specific brain regions showed intermediate to high expression, with the highest level in cerebellum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10574461" 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 PCR of human fetal brain cDNA, <a href="#6" class="mim-tip-reference" title="Lee, H.-Y., Xu, Y., Huang, Y., Ahn, A. H., Auburger, G. W. J., Pandolfo, M., Kwiecinski, H., Grimes, D. A., Lang, A. E., Nielsen, J. E., Averyanov, Y., Servidei, S., Friedman, A., Van Bogaert, P., Abramowicz, M. J., Bruno, M. K., Sorensen, B. F., Tang, L., Fu, Y.-H., Ptacek, L. J. <strong>The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.</strong> Hum. Molec. Genet. 13: 3161-3170, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15496428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15496428</a>] [<a href="https://doi.org/10.1093/hmg/ddh330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15496428">Lee et al. (2004)</a> cloned 3 alternatively spliced MR1 transcripts, which they called MR1L, MR1M, and MR1S and which consist of 10 exons, 9 exons, and 3 exons, respectively. Exons 1 and 2 are shared by MR1L and MR1S, and MR1S has a unique 3-prime exon encoding 63 amino acids. Exons 3 to 10 are common to MR1L and MR1M, and MR1M has a unique 5-prime exon encoding 56 amino acids. MR1L and MR1M contain an N-terminal transmembrane domain and a beta-lactamase domain. Northern blot analysis detected ubiquitous expression of MR1S in peripheral tissues and all brain regions examined, and MR1L was expressed exclusively in brain regions. In HEK293 cells, MR1L localized to the cell membrane. MR1M localized specifically to the perinuclear region, and MR1S was found throughout the cytoplasm and in the nucleus. <a href="#7" class="mim-tip-reference" title="Rainier, S., Thomas, D., Tokarz, D., Ming, L., Bui, M., Plein, E., Zhao, X., Lemons, R., Albin, R., Delaney, C., Alvarado, D., Fink, J. K. <strong>Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.</strong> Arch. Neurol. 61: 1025-1029, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15262732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15262732</a>] [<a href="https://doi.org/10.1001/archneur.61.7.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15262732">Rainier et al. (2004)</a> noted that MR1L results in a 385-amino acid protein with a molecular mass of 42.9 kD and that MR1M results in a 361-amino acid protein with a molecular mass of 40.7 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15496428+15262732" 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="Shen, Y., Lee, H.-Y., Rawson, J., Ojha, S., Babbitt, P., Fu, Y.-H., Ptacek, L. J. <strong>Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.</strong> Hum. Molec. Genet. 20: 2322-2332, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21487022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21487022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21487022[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/10.1093/hmg/ddr125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21487022">Shen et al. (2011)</a> found that MR1 localized to the cell membrane and to late endosomes in human neuroblastoma SH-SY5Y cells. MR1 did not localize to the mitochondria in COS-7 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21487022" 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="#6" class="mim-tip-reference" title="Lee, H.-Y., Xu, Y., Huang, Y., Ahn, A. H., Auburger, G. W. J., Pandolfo, M., Kwiecinski, H., Grimes, D. A., Lang, A. E., Nielsen, J. E., Averyanov, Y., Servidei, S., Friedman, A., Van Bogaert, P., Abramowicz, M. J., Bruno, M. K., Sorensen, B. F., Tang, L., Fu, Y.-H., Ptacek, L. J. <strong>The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.</strong> Hum. Molec. Genet. 13: 3161-3170, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15496428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15496428</a>] [<a href="https://doi.org/10.1093/hmg/ddh330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15496428">Lee et al. (2004)</a> determined that the MR1 gene contains 12 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15496428" 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="mim-changed mim-change"><p><a href="#10" class="mim-tip-reference" title="Stumpf, A. M. <strong>Personal Communication.</strong> Baltimore, Md. 2/28/2025."None>Stumpf (2025)</a> mapped the PNKD gene to chromosome 2q35 based on an alignment of the PNKD sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC036457" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC036457</a>) with the genomic sequence (GRCh38).</p></div>
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<p>The beta-lactamase domain of MR1 shows similarities to HAGH (<a href="/entry/138760">138760</a>). However, in cells and Drosophila, <a href="#9" class="mim-tip-reference" title="Shen, Y., Lee, H.-Y., Rawson, J., Ojha, S., Babbitt, P., Fu, Y.-H., Ptacek, L. J. <strong>Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.</strong> Hum. Molec. Genet. 20: 2322-2332, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21487022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21487022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21487022[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/10.1093/hmg/ddr125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21487022">Shen et al. (2011)</a> found that the long isoform of MR1 could not effectively restore absent HAGH activity, suggesting that MR1 does not hydrolyze S-D-lactoyl-glutathione (SLG) at appreciable levels in vivo. Mr1-null mice had decreased levels of glutathione in the frontal cortex compared to wildtype mice, suggesting that some glutathione-related metabolic changes are present. <a href="#9" class="mim-tip-reference" title="Shen, Y., Lee, H.-Y., Rawson, J., Ojha, S., Babbitt, P., Fu, Y.-H., Ptacek, L. J. <strong>Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.</strong> Hum. Molec. Genet. 20: 2322-2332, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21487022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21487022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21487022[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/10.1093/hmg/ddr125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21487022">Shen et al. (2011)</a> hypothesized that the long isoform of MR1 may function in a pathway to detoxify an alpha-ketonaldehyde product using glutathione as a cofactor in neuronal cells. Since glutathione is essential for maintaining proper cellular redox status, reduced glutathione levels in cells with mutant MR1 may render them more susceptible to oxidative stress. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21487022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 2 unrelated families with autosomal dominant paroxysmal dystonic choreoathetosis (PDC), also known as paroxysmal nonkinesigenic dyskinesia-1 (PNKD1; <a href="/entry/118800">118800</a>), <a href="#7" class="mim-tip-reference" title="Rainier, S., Thomas, D., Tokarz, D., Ming, L., Bui, M., Plein, E., Zhao, X., Lemons, R., Albin, R., Delaney, C., Alvarado, D., Fink, J. K. <strong>Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.</strong> Arch. Neurol. 61: 1025-1029, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15262732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15262732</a>] [<a href="https://doi.org/10.1001/archneur.61.7.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15262732">Rainier et al. (2004)</a> identified 2 different heterozygous mutations in exon 1 of the MR1 gene (A9V, <a href="#0001">609023.0001</a>; A7V, <a href="#0002">609023.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15262732" 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="#6" class="mim-tip-reference" title="Lee, H.-Y., Xu, Y., Huang, Y., Ahn, A. H., Auburger, G. W. J., Pandolfo, M., Kwiecinski, H., Grimes, D. A., Lang, A. E., Nielsen, J. E., Averyanov, Y., Servidei, S., Friedman, A., Van Bogaert, P., Abramowicz, M. J., Bruno, M. K., Sorensen, B. F., Tang, L., Fu, Y.-H., Ptacek, L. J. <strong>The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.</strong> Hum. Molec. Genet. 13: 3161-3170, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15496428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15496428</a>] [<a href="https://doi.org/10.1093/hmg/ddh330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15496428">Lee et al. (2004)</a> identified the A9V mutation in affected members of 3 unrelated families with PNKD1 and the A7V mutation in affected members of 5 unrelated families with PNKD1. They noted that MR1L is likely to have similar enzymatic activity to HAGH, which functions in a pathway to detoxify methylglyoxal, a compound present in coffee and alcoholic beverages and produced as a byproduct of oxidative stress. <a href="#6" class="mim-tip-reference" title="Lee, H.-Y., Xu, Y., Huang, Y., Ahn, A. H., Auburger, G. W. J., Pandolfo, M., Kwiecinski, H., Grimes, D. A., Lang, A. E., Nielsen, J. E., Averyanov, Y., Servidei, S., Friedman, A., Van Bogaert, P., Abramowicz, M. J., Bruno, M. K., Sorensen, B. F., Tang, L., Fu, Y.-H., Ptacek, L. J. <strong>The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.</strong> Hum. Molec. Genet. 13: 3161-3170, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15496428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15496428</a>] [<a href="https://doi.org/10.1093/hmg/ddh330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15496428">Lee et al. (2004)</a> suggested a mechanism whereby alcohol, coffee and stress may act as precipitants of attacks in PNKD1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15496428" 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="Ghezzi, D., Viscomi, C., Ferlini, A., Gualandi, F., Mereghetti, P., DeGrandis, D., Zeviani, M. <strong>Paroxysmal non-kinesigenic dyskinesia is caused by mutation of the MR-1 mitochondrial targeting sequence.</strong> Hum. Molec. Genet. 18: 1058-1064, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19124534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19124534</a>] [<a href="https://doi.org/10.1093/hmg/ddn441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19124534">Ghezzi et al. (2009)</a> reported a 3-generation PNKD family in which the proband was heterozygous for a mutation (A33P; <a href="#0003">609023.0003</a>) in the MR1 gene. By immunofluorescence microscopy and Western blot analysis, they studied the subcellular localization of both wildtype and mutant MR1 isoforms. The mutation-free MR1M isoform was localized in the Golgi apparatus, ER, and plasma membrane, whereas both MR1L and MR1S isoforms were mitochondrial proteins, imported into the organelle via the 39-amino acid N-terminal mitochondrial targeting sequence (MTS). All 3 known MR1 mutations are contained within the MTS. The authors showed that the MTS was cleaved off the mature MR1L and MR1S isoforms before their insertion in the inner mitochondrial membrane. Therefore, mature MR1S and MR1L of PNKD patients are identical to those of normal subjects. There was no difference in import efficiency and protein maturation between wildtype and mutant MR1 variants. <a href="#4" class="mim-tip-reference" title="Ghezzi, D., Viscomi, C., Ferlini, A., Gualandi, F., Mereghetti, P., DeGrandis, D., Zeviani, M. <strong>Paroxysmal non-kinesigenic dyskinesia is caused by mutation of the MR-1 mitochondrial targeting sequence.</strong> Hum. Molec. Genet. 18: 1058-1064, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19124534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19124534</a>] [<a href="https://doi.org/10.1093/hmg/ddn441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19124534">Ghezzi et al. (2009)</a> concluded that PNKD is due to a novel disease mechanism based on a deleterious action of the MTS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19124534" 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="Shen, Y., Lee, H.-Y., Rawson, J., Ojha, S., Babbitt, P., Fu, Y.-H., Ptacek, L. J. <strong>Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.</strong> Hum. Molec. Genet. 20: 2322-2332, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21487022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21487022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21487022[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/10.1093/hmg/ddr125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21487022">Shen et al. (2011)</a> demonstrated that the N terminus of wildtype MR1 is cleaved, and that this normal cleavage is blocked by disease-causing mutations in the MR1 gene. Cellular studies showed that the mutant long isoform of MR1 was degraded faster than the wildtype protein. Transgenic mice with the mutant long isoform had decreased levels of mutant protein compared to wildtype, although transcript levels were normal. The findings suggested that impaired protein cleavage was associated with decreased protein stability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21487022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=609023[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434511 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434511;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=rs121434511" 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=rs121434511" 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=RCV000001969 OR RCV000414943 OR RCV001092425 OR RCV002512664" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001969, RCV000414943, RCV001092425, RCV002512664" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001969...</a>
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<p>In 8 affected members of a large Polish-American family with PNKD1 (<a href="/entry/118800">118800</a>) originally reported by <a href="#3" class="mim-tip-reference" title="Fink, J. K., Rainier, S., Wilkowski, J., Jones, S. M., Kume, A., Hedera, P., Albin, R., Mathay, J., Girbach, L., Varvil, T., Otterud, B., Leppert, M. <strong>Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.</strong> Am. J. Hum. Genet. 59: 140-145, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8659518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8659518</a>]" pmid="8659518">Fink et al. (1996)</a>, <a href="#7" class="mim-tip-reference" title="Rainier, S., Thomas, D., Tokarz, D., Ming, L., Bui, M., Plein, E., Zhao, X., Lemons, R., Albin, R., Delaney, C., Alvarado, D., Fink, J. K. <strong>Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.</strong> Arch. Neurol. 61: 1025-1029, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15262732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15262732</a>] [<a href="https://doi.org/10.1001/archneur.61.7.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15262732">Rainier et al. (2004)</a> identified a heterozygous 72C-T transition in exon 1 of the MR1 gene, resulting in an ala9-to-val (A9V) substitution. The mutation occurs in a conserved N-terminal alpha helix of the protein and was not identified in 105 controls. Two unaffected family members also carried the mutation, indicating reduced penetrance of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8659518+15262732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 3 unrelated families with PNKD1, <a href="#6" class="mim-tip-reference" title="Lee, H.-Y., Xu, Y., Huang, Y., Ahn, A. H., Auburger, G. W. J., Pandolfo, M., Kwiecinski, H., Grimes, D. A., Lang, A. E., Nielsen, J. E., Averyanov, Y., Servidei, S., Friedman, A., Van Bogaert, P., Abramowicz, M. J., Bruno, M. K., Sorensen, B. F., Tang, L., Fu, Y.-H., Ptacek, L. J. <strong>The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.</strong> Hum. Molec. Genet. 13: 3161-3170, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15496428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15496428</a>] [<a href="https://doi.org/10.1093/hmg/ddh330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15496428">Lee et al. (2004)</a> identified the A9V mutation. The mutation was not present in over 250 unrelated controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15496428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a family with PNKD1 originally reported by <a href="#8" class="mim-tip-reference" title="Raskind, W. H., Bolin, T., Wolff, J., Fink, J., Matsushita, M., Litt, M., Lipe, H., Bird, T. D. <strong>Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34.</strong> Hum. Genet. 102: 93-97, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9490305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9490305</a>] [<a href="https://doi.org/10.1007/s004390050659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9490305">Raskind et al. (1998)</a>, <a href="#1" class="mim-tip-reference" title="Chen, D.-H., Matsushita, M., Rainier, S., Meaney, B., Tisch, L., Feleke, A., Wolff, J., Lipe, H., Fink, J., Bird, T. D., Raskind, W. H. <strong>Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia.</strong> Arch. Neurol. 62: 597-600, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15824259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15824259</a>] [<a href="https://doi.org/10.1001/archneur.62.4.597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15824259">Chen et al. (2005)</a> identified the A9V substitution. Haplotype analysis suggested that the mutation arose independently from that found in the family reported by <a href="#7" class="mim-tip-reference" title="Rainier, S., Thomas, D., Tokarz, D., Ming, L., Bui, M., Plein, E., Zhao, X., Lemons, R., Albin, R., Delaney, C., Alvarado, D., Fink, J. K. <strong>Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.</strong> Arch. Neurol. 61: 1025-1029, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15262732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15262732</a>] [<a href="https://doi.org/10.1001/archneur.61.7.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15262732">Rainier et al. (2004)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9490305+15824259+15262732" 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="#2" class="mim-tip-reference" title="Djarmati, A., Svetel, M., Momcilovic, D., Kostic, V., Klein, C. <strong>Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene. (Letter)</strong> Arch. Neurol. 62: 1641 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16216955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16216955</a>] [<a href="https://doi.org/10.1001/archneur.62.10.1641-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16216955">Djarmati et al. (2005)</a> identified the A9V mutation in a 15-year-old Serbian boy with PNKD1. The patient belonged to a large family with 12 additional affected members in 5 successive generations. Three obligate mutation carriers were unaffected, suggesting incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16216955" 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">rs121434512 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434512;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=rs121434512" 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=rs121434512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 4 affected members of a family with PNKD1 (<a href="/entry/118800">118800</a>), <a href="#7" class="mim-tip-reference" title="Rainier, S., Thomas, D., Tokarz, D., Ming, L., Bui, M., Plein, E., Zhao, X., Lemons, R., Albin, R., Delaney, C., Alvarado, D., Fink, J. K. <strong>Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.</strong> Arch. Neurol. 61: 1025-1029, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15262732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15262732</a>] [<a href="https://doi.org/10.1001/archneur.61.7.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15262732">Rainier et al. (2004)</a> identified a heterozygous 66C-T transition in exon 1 of the MR1 gene, resulting in an ala7-to-val (A7V) substitution. The mutation occurs in a conserved N-terminal alpha helix of the protein and was not identified in 105 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15262732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 5 unrelated families with PNKD1, <a href="#6" class="mim-tip-reference" title="Lee, H.-Y., Xu, Y., Huang, Y., Ahn, A. H., Auburger, G. W. J., Pandolfo, M., Kwiecinski, H., Grimes, D. A., Lang, A. E., Nielsen, J. E., Averyanov, Y., Servidei, S., Friedman, A., Van Bogaert, P., Abramowicz, M. J., Bruno, M. K., Sorensen, B. F., Tang, L., Fu, Y.-H., Ptacek, L. J. <strong>The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.</strong> Hum. Molec. Genet. 13: 3161-3170, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15496428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15496428</a>] [<a href="https://doi.org/10.1093/hmg/ddh330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15496428">Lee et al. (2004)</a> identified the A7V mutation. The mutation was not present in over 250 unrelated controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15496428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a large PNKD1 family of French and Irish origin, <a href="#1" class="mim-tip-reference" title="Chen, D.-H., Matsushita, M., Rainier, S., Meaney, B., Tisch, L., Feleke, A., Wolff, J., Lipe, H., Fink, J., Bird, T. D., Raskind, W. H. <strong>Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia.</strong> Arch. Neurol. 62: 597-600, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15824259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15824259</a>] [<a href="https://doi.org/10.1001/archneur.62.4.597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15824259">Chen et al. (2005)</a> identified the A7V substitution. Haplotype analysis suggested that the mutation arose independently from that found in the family reported by <a href="#7" class="mim-tip-reference" title="Rainier, S., Thomas, D., Tokarz, D., Ming, L., Bui, M., Plein, E., Zhao, X., Lemons, R., Albin, R., Delaney, C., Alvarado, D., Fink, J. K. <strong>Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.</strong> Arch. Neurol. 61: 1025-1029, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15262732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15262732</a>] [<a href="https://doi.org/10.1001/archneur.61.7.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15262732">Rainier et al. (2004)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15824259+15262732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121434513 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434513;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121434513?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121434513" 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=rs121434513" 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=RCV000001971 OR RCV000858413 OR RCV004808545" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001971, RCV000858413, RCV004808545" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001971...</a>
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<p>In the affected proband of a 3-generation family with PNKD1 (<a href="/entry/118800">118800</a>), <a href="#4" class="mim-tip-reference" title="Ghezzi, D., Viscomi, C., Ferlini, A., Gualandi, F., Mereghetti, P., DeGrandis, D., Zeviani, M. <strong>Paroxysmal non-kinesigenic dyskinesia is caused by mutation of the MR-1 mitochondrial targeting sequence.</strong> Hum. Molec. Genet. 18: 1058-1064, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19124534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19124534</a>] [<a href="https://doi.org/10.1093/hmg/ddn441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19124534">Ghezzi et al. (2009)</a> identified heterozygosity for a 97G-C transversion in exon 2 of the MR1 gene, resulting in an ala33-to-pro (A33P) substitution in a conserved residue of the N-terminal mitochondrial targeting sequence. The mutation was not identified in 500 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19124534" 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="Chen2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Chen, D.-H., Matsushita, M., Rainier, S., Meaney, B., Tisch, L., Feleke, A., Wolff, J., Lipe, H., Fink, J., Bird, T. D., Raskind, W. H.
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<strong>Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia.</strong>
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Arch. Neurol. 62: 597-600, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15824259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15824259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15824259" 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/10.1001/archneur.62.4.597" target="_blank">Full Text</a>]
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<a id="Djarmati2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Djarmati, A., Svetel, M., Momcilovic, D., Kostic, V., Klein, C.
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<strong>Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene. (Letter)</strong>
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Arch. Neurol. 62: 1641 only, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16216955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16216955</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16216955" 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/10.1001/archneur.62.10.1641-a" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Fink1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fink, J. K., Rainier, S., Wilkowski, J., Jones, S. M., Kume, A., Hedera, P., Albin, R., Mathay, J., Girbach, L., Varvil, T., Otterud, B., Leppert, M.
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<strong>Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.</strong>
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Am. J. Hum. Genet. 59: 140-145, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8659518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8659518</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8659518" 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="4" class="mim-anchor"></a>
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<a id="Ghezzi2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ghezzi, D., Viscomi, C., Ferlini, A., Gualandi, F., Mereghetti, P., DeGrandis, D., Zeviani, M.
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<strong>Paroxysmal non-kinesigenic dyskinesia is caused by mutation of the MR-1 mitochondrial targeting sequence.</strong>
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Hum. Molec. Genet. 18: 1058-1064, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19124534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19124534</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19124534" 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/10.1093/hmg/ddn441" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Hirosawa1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hirosawa, M., Nagase, T., Ishikawa, K., Kikuno, R., Nomura, N., Ohara, O.
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<strong>Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.</strong>
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DNA Res. 6: 329-336, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10574461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10574461</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10574461" 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/10.1093/dnares/6.5.329" target="_blank">Full Text</a>]
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Lee2004" class="mim-anchor"></a>
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<div class="">
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Lee, H.-Y., Xu, Y., Huang, Y., Ahn, A. H., Auburger, G. W. J., Pandolfo, M., Kwiecinski, H., Grimes, D. A., Lang, A. E., Nielsen, J. E., Averyanov, Y., Servidei, S., Friedman, A., Van Bogaert, P., Abramowicz, M. J., Bruno, M. K., Sorensen, B. F., Tang, L., Fu, Y.-H., Ptacek, L. J.
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<strong>The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.</strong>
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Hum. Molec. Genet. 13: 3161-3170, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15496428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15496428</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15496428" 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/10.1093/hmg/ddh330" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Rainier2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rainier, S., Thomas, D., Tokarz, D., Ming, L., Bui, M., Plein, E., Zhao, X., Lemons, R., Albin, R., Delaney, C., Alvarado, D., Fink, J. K.
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<strong>Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.</strong>
|
|
Arch. Neurol. 61: 1025-1029, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15262732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15262732</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15262732" 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/10.1001/archneur.61.7.1025" target="_blank">Full Text</a>]
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Raskind1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Raskind, W. H., Bolin, T., Wolff, J., Fink, J., Matsushita, M., Litt, M., Lipe, H., Bird, T. D.
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<strong>Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34.</strong>
|
|
Hum. Genet. 102: 93-97, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9490305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9490305</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9490305" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004390050659" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Shen2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shen, Y., Lee, H.-Y., Rawson, J., Ojha, S., Babbitt, P., Fu, Y.-H., Ptacek, L. J.
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<strong>Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.</strong>
|
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Hum. Molec. Genet. 20: 2322-2332, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21487022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21487022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21487022[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=21487022" 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/10.1093/hmg/ddr125" target="_blank">Full Text</a>]
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</p>
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<a id="10" class="mim-anchor"></a>
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<a id="Stumpf2025" class="mim-anchor"></a>
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<div class="mim-changed mim-change">
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<p class="mim-text-font">
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Stumpf, A. M.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 2/28/2025.
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</p>
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</ol>
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<br />
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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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<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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Anne M. Stumpf - updated : 02/28/2025
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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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Cassandra L. Kniffin - updated : 4/9/2013<br>George E. Tiller - updated : 10/23/2009<br>Cassandra L. Kniffin - updated : 7/10/2007<br>George E. Tiller - updated : 5/21/2007<br>Cassandra L. Kniffin - updated : 6/9/2006<br>Cassandra L. Kniffin - updated : 8/16/2005
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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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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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 11/10/2004
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 02/28/2025
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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 : 02/28/2020<br>carol : 04/09/2013<br>ckniffin : 4/9/2013<br>wwang : 11/9/2009<br>terry : 10/23/2009<br>wwang : 7/10/2007<br>wwang : 6/5/2007<br>terry : 5/21/2007<br>wwang : 6/23/2006<br>ckniffin : 6/9/2006<br>ckniffin : 8/16/2005<br>tkritzer : 12/7/2004<br>ckniffin : 11/29/2004<br>mgross : 11/10/2004
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 609023
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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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PNKD METALLO-BETA-LACTAMASE DOMAIN-CONTAINING PROTEIN; PNKD
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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MYOFIBRILLOGENESIS REGULATOR 1; MR1<br />
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TRANSACTIVATED BY HEPATITIS C VIRUS CORE PROTEIN 2; TAHCCP2<br />
|
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BRAIN PROTEIN 17, MOUSE, HOMOLOG OF; BRP17<br />
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KIAA1184
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PNKD</em></strong>
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</span>
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</p>
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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: 2q35
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:218,270,519-218,346,793 </span>
|
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</em>
|
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</strong>
|
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<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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2q35
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</span>
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</td>
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<td>
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<span class="mim-font">
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Paroxysmal nonkinesigenic dyskinesia 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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118800
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated adult brain cDNA library, Hirosawa et al. (1999) cloned KIAA1184. The transcript contains a repetitive sequence in the 3-prime UTR, and the deduced 380-amino acid protein shares 43% identity over 260 amino acids with human hydroxyacylglutathione hydrolase (HAGH; 138760). RT-PCR ELISA detected KIAA1184 expression in all tissues and specific brain regions examined. Highest expression was in adult brain, followed by fetal brain, skeletal muscle, and ovary, with lower expression in spleen, heart, testis, lung, liver, kidney, fetal liver, and pancreas. Specific brain regions showed intermediate to high expression, with the highest level in cerebellum. </p><p>By PCR of human fetal brain cDNA, Lee et al. (2004) cloned 3 alternatively spliced MR1 transcripts, which they called MR1L, MR1M, and MR1S and which consist of 10 exons, 9 exons, and 3 exons, respectively. Exons 1 and 2 are shared by MR1L and MR1S, and MR1S has a unique 3-prime exon encoding 63 amino acids. Exons 3 to 10 are common to MR1L and MR1M, and MR1M has a unique 5-prime exon encoding 56 amino acids. MR1L and MR1M contain an N-terminal transmembrane domain and a beta-lactamase domain. Northern blot analysis detected ubiquitous expression of MR1S in peripheral tissues and all brain regions examined, and MR1L was expressed exclusively in brain regions. In HEK293 cells, MR1L localized to the cell membrane. MR1M localized specifically to the perinuclear region, and MR1S was found throughout the cytoplasm and in the nucleus. Rainier et al. (2004) noted that MR1L results in a 385-amino acid protein with a molecular mass of 42.9 kD and that MR1M results in a 361-amino acid protein with a molecular mass of 40.7 kD. </p><p>Shen et al. (2011) found that MR1 localized to the cell membrane and to late endosomes in human neuroblastoma SH-SY5Y cells. MR1 did not localize to the mitochondria in COS-7 cells. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lee et al. (2004) determined that the MR1 gene contains 12 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Stumpf (2025) mapped the PNKD gene to chromosome 2q35 based on an alignment of the PNKD sequence (GenBank BC036457) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The beta-lactamase domain of MR1 shows similarities to HAGH (138760). However, in cells and Drosophila, Shen et al. (2011) found that the long isoform of MR1 could not effectively restore absent HAGH activity, suggesting that MR1 does not hydrolyze S-D-lactoyl-glutathione (SLG) at appreciable levels in vivo. Mr1-null mice had decreased levels of glutathione in the frontal cortex compared to wildtype mice, suggesting that some glutathione-related metabolic changes are present. Shen et al. (2011) hypothesized that the long isoform of MR1 may function in a pathway to detoxify an alpha-ketonaldehyde product using glutathione as a cofactor in neuronal cells. Since glutathione is essential for maintaining proper cellular redox status, reduced glutathione levels in cells with mutant MR1 may render them more susceptible to oxidative stress. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of 2 unrelated families with autosomal dominant paroxysmal dystonic choreoathetosis (PDC), also known as paroxysmal nonkinesigenic dyskinesia-1 (PNKD1; 118800), Rainier et al. (2004) identified 2 different heterozygous mutations in exon 1 of the MR1 gene (A9V, 609023.0001; A7V, 609023.0002). </p><p>Lee et al. (2004) identified the A9V mutation in affected members of 3 unrelated families with PNKD1 and the A7V mutation in affected members of 5 unrelated families with PNKD1. They noted that MR1L is likely to have similar enzymatic activity to HAGH, which functions in a pathway to detoxify methylglyoxal, a compound present in coffee and alcoholic beverages and produced as a byproduct of oxidative stress. Lee et al. (2004) suggested a mechanism whereby alcohol, coffee and stress may act as precipitants of attacks in PNKD1. </p><p>Ghezzi et al. (2009) reported a 3-generation PNKD family in which the proband was heterozygous for a mutation (A33P; 609023.0003) in the MR1 gene. By immunofluorescence microscopy and Western blot analysis, they studied the subcellular localization of both wildtype and mutant MR1 isoforms. The mutation-free MR1M isoform was localized in the Golgi apparatus, ER, and plasma membrane, whereas both MR1L and MR1S isoforms were mitochondrial proteins, imported into the organelle via the 39-amino acid N-terminal mitochondrial targeting sequence (MTS). All 3 known MR1 mutations are contained within the MTS. The authors showed that the MTS was cleaved off the mature MR1L and MR1S isoforms before their insertion in the inner mitochondrial membrane. Therefore, mature MR1S and MR1L of PNKD patients are identical to those of normal subjects. There was no difference in import efficiency and protein maturation between wildtype and mutant MR1 variants. Ghezzi et al. (2009) concluded that PNKD is due to a novel disease mechanism based on a deleterious action of the MTS. </p><p>Shen et al. (2011) demonstrated that the N terminus of wildtype MR1 is cleaved, and that this normal cleavage is blocked by disease-causing mutations in the MR1 gene. Cellular studies showed that the mutant long isoform of MR1 was degraded faster than the wildtype protein. Transgenic mice with the mutant long isoform had decreased levels of mutant protein compared to wildtype, although transcript levels were normal. The findings suggested that impaired protein cleavage was associated with decreased protein stability. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>3 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1</strong>
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</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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PNKD, ALA9VAL
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<br />
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SNP: rs121434511,
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ClinVar: RCV000001969, RCV000414943, RCV001092425, RCV002512664
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 8 affected members of a large Polish-American family with PNKD1 (118800) originally reported by Fink et al. (1996), Rainier et al. (2004) identified a heterozygous 72C-T transition in exon 1 of the MR1 gene, resulting in an ala9-to-val (A9V) substitution. The mutation occurs in a conserved N-terminal alpha helix of the protein and was not identified in 105 controls. Two unaffected family members also carried the mutation, indicating reduced penetrance of the disorder. </p><p>In affected members of 3 unrelated families with PNKD1, Lee et al. (2004) identified the A9V mutation. The mutation was not present in over 250 unrelated controls. </p><p>In affected members of a family with PNKD1 originally reported by Raskind et al. (1998), Chen et al. (2005) identified the A9V substitution. Haplotype analysis suggested that the mutation arose independently from that found in the family reported by Rainier et al. (2004). </p><p>Djarmati et al. (2005) identified the A9V mutation in a 15-year-old Serbian boy with PNKD1. The patient belonged to a large family with 12 additional affected members in 5 successive generations. Three obligate mutation carriers were unaffected, suggesting incomplete penetrance. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
PNKD, ALA7VAL
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<br />
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|
|
SNP: rs121434512,
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|
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ClinVar: RCV000001970, RCV001050396
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</span>
|
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</div>
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 affected members of a family with PNKD1 (118800), Rainier et al. (2004) identified a heterozygous 66C-T transition in exon 1 of the MR1 gene, resulting in an ala7-to-val (A7V) substitution. The mutation occurs in a conserved N-terminal alpha helix of the protein and was not identified in 105 controls. </p><p>In affected members of 5 unrelated families with PNKD1, Lee et al. (2004) identified the A7V mutation. The mutation was not present in over 250 unrelated controls. </p><p>In affected members of a large PNKD1 family of French and Irish origin, Chen et al. (2005) identified the A7V substitution. Haplotype analysis suggested that the mutation arose independently from that found in the family reported by Rainier et al. (2004). </p>
|
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</span>
|
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</div>
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PNKD, ALA33PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121434513,
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|
|
|
gnomAD: rs121434513,
|
|
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|
|
|
ClinVar: RCV000001971, RCV000858413, RCV004808545
|
|
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In the affected proband of a 3-generation family with PNKD1 (118800), Ghezzi et al. (2009) identified heterozygosity for a 97G-C transversion in exon 2 of the MR1 gene, resulting in an ala33-to-pro (A33P) substitution in a conserved residue of the N-terminal mitochondrial targeting sequence. The mutation was not identified in 500 control chromosomes. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
|
<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Chen, D.-H., Matsushita, M., Rainier, S., Meaney, B., Tisch, L., Feleke, A., Wolff, J., Lipe, H., Fink, J., Bird, T. D., Raskind, W. H.
|
|
<strong>Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia.</strong>
|
|
Arch. Neurol. 62: 597-600, 2005.
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|
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[PubMed: 15824259]
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[Full Text: https://doi.org/10.1001/archneur.62.4.597]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Djarmati, A., Svetel, M., Momcilovic, D., Kostic, V., Klein, C.
|
|
<strong>Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene. (Letter)</strong>
|
|
Arch. Neurol. 62: 1641 only, 2005.
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[PubMed: 16216955]
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[Full Text: https://doi.org/10.1001/archneur.62.10.1641-a]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Fink, J. K., Rainier, S., Wilkowski, J., Jones, S. M., Kume, A., Hedera, P., Albin, R., Mathay, J., Girbach, L., Varvil, T., Otterud, B., Leppert, M.
|
|
<strong>Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.</strong>
|
|
Am. J. Hum. Genet. 59: 140-145, 1996.
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[PubMed: 8659518]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Ghezzi, D., Viscomi, C., Ferlini, A., Gualandi, F., Mereghetti, P., DeGrandis, D., Zeviani, M.
|
|
<strong>Paroxysmal non-kinesigenic dyskinesia is caused by mutation of the MR-1 mitochondrial targeting sequence.</strong>
|
|
Hum. Molec. Genet. 18: 1058-1064, 2009.
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[PubMed: 19124534]
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[Full Text: https://doi.org/10.1093/hmg/ddn441]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Hirosawa, M., Nagase, T., Ishikawa, K., Kikuno, R., Nomura, N., Ohara, O.
|
|
<strong>Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.</strong>
|
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DNA Res. 6: 329-336, 1999.
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[PubMed: 10574461]
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[Full Text: https://doi.org/10.1093/dnares/6.5.329]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lee, H.-Y., Xu, Y., Huang, Y., Ahn, A. H., Auburger, G. W. J., Pandolfo, M., Kwiecinski, H., Grimes, D. A., Lang, A. E., Nielsen, J. E., Averyanov, Y., Servidei, S., Friedman, A., Van Bogaert, P., Abramowicz, M. J., Bruno, M. K., Sorensen, B. F., Tang, L., Fu, Y.-H., Ptacek, L. J.
|
|
<strong>The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.</strong>
|
|
Hum. Molec. Genet. 13: 3161-3170, 2004.
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[PubMed: 15496428]
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[Full Text: https://doi.org/10.1093/hmg/ddh330]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Rainier, S., Thomas, D., Tokarz, D., Ming, L., Bui, M., Plein, E., Zhao, X., Lemons, R., Albin, R., Delaney, C., Alvarado, D., Fink, J. K.
|
|
<strong>Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.</strong>
|
|
Arch. Neurol. 61: 1025-1029, 2004.
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|
|
[PubMed: 15262732]
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[Full Text: https://doi.org/10.1001/archneur.61.7.1025]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Raskind, W. H., Bolin, T., Wolff, J., Fink, J., Matsushita, M., Litt, M., Lipe, H., Bird, T. D.
|
|
<strong>Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34.</strong>
|
|
Hum. Genet. 102: 93-97, 1998.
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[PubMed: 9490305]
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[Full Text: https://doi.org/10.1007/s004390050659]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Shen, Y., Lee, H.-Y., Rawson, J., Ojha, S., Babbitt, P., Fu, Y.-H., Ptacek, L. J.
|
|
<strong>Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.</strong>
|
|
Hum. Molec. Genet. 20: 2322-2332, 2011.
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|
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[PubMed: 21487022]
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[Full Text: https://doi.org/10.1093/hmg/ddr125]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Stumpf, A. M.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 2/28/2025.
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</p>
|
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
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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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Anne M. Stumpf - updated : 02/28/2025<br>Cassandra L. Kniffin - updated : 4/9/2013<br>George E. Tiller - updated : 10/23/2009<br>Cassandra L. Kniffin - updated : 7/10/2007<br>George E. Tiller - updated : 5/21/2007<br>Cassandra L. Kniffin - updated : 6/9/2006<br>Cassandra L. Kniffin - updated : 8/16/2005
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Patricia A. Hartz : 11/10/2004
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