4216 lines
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Entry
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- *608736 - SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 14; SLC39A14
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- OMIM
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<p>
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<span class="h4">*608736</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608736">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel 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=ENSG00000104635;t=ENST00000381237" 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=23516" 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=608736" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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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<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=ENSG00000104635;t=ENST00000381237" 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_001128431,NM_001135153,NM_001135154,NM_001351655,NM_001351656,NM_001351657,NM_001351658,NM_001351659,NM_001351660,NM_015359,XM_006716324,XM_047421653,XM_047421654,XM_047421655" 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_001128431" 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=608736" 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=12288&isoform_id=12288_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/SLC39A14" 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/16041779,47077818,119584084,119584085,119584086,119584087,190358541,190360568,194381342,205830424,205830426,313104191,578815274,929653756,957950911,957950914,957950917,957950920,1194651328,1194651330,1194651332,1194651334,1194651336,1194651338,2217371579,2217371582,2217371584,2462618848,2462618850,2462618852,2462618854" 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/Q15043" 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=23516" 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=ENSG00000104635;t=ENST00000381237" 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=SLC39A14" 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=SLC39A14" 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+23516" 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/SLC39A14" 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:23516" 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/23516" 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=chr8&hgg_gene=ENST00000381237.6&hgg_start=22367278&hgg_end=22434129&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/slc39a14" 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=608736[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=608736[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/ENSG00000104635" 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=SLC39A14" 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=SLC39A14" 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=SLC39A14" 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=SLC39A14&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/PA134863701" 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:20858" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0036461.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2384851" 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/SLC39A14#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:2384851" 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/23516/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=23516" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00021936;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060315-2" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23516" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=SLC39A14&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1217210001, 768554008<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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608736
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 14; SLC39A14
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</span>
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
ZIP14<br />
|
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KIAA0062
|
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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=SLC39A14" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC39A14</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>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/8/113?start=-3&limit=10&highlight=113">8p21.3</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr8:22367278-22434129&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'})">8:22,367,278-22,434,129</a> </span>
|
|
</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=144755,617013" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/8/113?start=-3&limit=10&highlight=113">
|
|
8p21.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Hyperostosis cranalis interna
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/144755"> 144755 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
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|
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|
|
|
</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hypermanganesemia with dystonia 2
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/617013"> 617013 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
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</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
|
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<p>The SLC39A14 gene encodes a divalent metal transporter that transports zinc, manganese, iron, and cadmium (summary by <a href="#19" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al., 2016</a>). Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation (summary by <a href="#17" class="mim-tip-reference" title="Taylor, K. M., Nicholson, R. I. <strong>The LZT proteins; the LIV-1 subfamily of zinc transporters.</strong> Biochim. Biophys. Acta 1611: 16-30, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12659941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12659941</a>] [<a href="https://doi.org/10.1016/s0005-2736(03)00048-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12659941">Taylor and Nicholson, 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12659941+27231142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from a size-fractionated immature myeloid cell line cDNA library, <a href="#12" class="mim-tip-reference" title="Nomura, N., Nagase, T., Miyajima, N., Sazuka, T., Tanaka, A., Sato, S., Seki, N., Kawarabayasi, Y., Ishikawa, K., Tabata, S. <strong>Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1.</strong> DNA Res. 1: 223-229, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7584044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7584044</a>] [<a href="https://doi.org/10.1093/dnares/1.5.223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7584044">Nomura et al. (1994)</a> cloned SLC39A14, which they designated KIAA0062. The deduced 531-amino acid protein contains possible transmembrane domains. Northern blot analysis detected SLC39A14 expression in all tissues and cell lines examined. Highest expression was in liver, and lowest expression was in spleen, thymus, and peripheral blood leukocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7584044" 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 searching databases for sequences similar to a unique motif within LIV-1 (SLC39A6; <a href="/entry/608731">608731</a>), <a href="#17" class="mim-tip-reference" title="Taylor, K. M., Nicholson, R. I. <strong>The LZT proteins; the LIV-1 subfamily of zinc transporters.</strong> Biochim. Biophys. Acta 1611: 16-30, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12659941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12659941</a>] [<a href="https://doi.org/10.1016/s0005-2736(03)00048-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12659941">Taylor and Nicholson (2003)</a> identified SLC39A14, which they designated LZT-Hs4. SLC39A14 contains a long N terminus, followed by 8 putative transmembrane domains and a short C terminus. It also has a motif similar to the catalytic zinc-binding site of matrix metalloproteases. Expression of SLC39A14 in Chinese hamster ovary cells showed an apparent molecular mass of 53 kD and suggested SLC39A14 has up to 3 N-linked carbohydrate side chains. Under nonreducing conditions, SLC39A14 migrated as a trimer, consistent with the formation of an ion channel. SLC39A14 was expressed on the plasma membrane, colocalized with F-actin, and concentrated on lamellipodiae in a manner similar to membrane-type matrix metalloproteases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12659941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using Western blot analysis, <a href="#16" class="mim-tip-reference" title="Taylor, K. M., Morgan, H. E., Johnson, A., Nicholson, R. I. <strong>Structure-function analysis of a novel member of the LIV-1 subfamily of zinc transporters, ZIP14.</strong> FEBS Lett. 579: 427-432, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15642354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15642354</a>] [<a href="https://doi.org/10.1016/j.febslet.2004.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15642354">Taylor et al. (2005)</a> detected epitope-tagged human ZIP14 as a doublet with an apparent molecular mass of 60 kD, similar to the predicted size of 54 kD. ZIP14 also formed apparent trimers and higher molecular mass species that increased in nonreducing conditions. Immunofluorescence microscopy detected ZIP14 at CHO cell membranes, with particularly dense staining in regions of cell-cell contact. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15642354" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using transfected HepG2 cells, <a href="#22" class="mim-tip-reference" title="Zhao, N., Gao, J., Enns, C. A., Knutson, M. D. <strong>ZRT/IRT-like protein 14 (ZIP14) promotes the cellular assimilation of iron from transferrin.</strong> J. Biol. Chem. 285: 32141-32150, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20682781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20682781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20682781[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/10.1074/jbc.M110.143248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20682781">Zhao et al. (2010)</a> found that epitope-tagged human ZIP14 localized to the plasma membrane and partially colocalized with internalized transferrin (TF; <a href="/entry/190000">190000</a>) in endosomes, as well as with other endosomal and lysosomal markers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20682781" 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>The SLC39A1 gene encodes 3 isoforms: isoforms 1 and 2 differ by 20 amino acids encoded by an alternatively spliced exon 4 (4B and 4A, respectively). Isoform 3 has an alternative exon 9, but shares the remaining protein sequence with isoform 1. <a href="#19" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al. (2016)</a> found expression of the SLC39A1 gene in cell membranes and cytoplasm of human hepatocytes in a punctate pattern. In human brain, SLC39A1 was found in large neurons, especially in the globus pallidus, insular cortex, and dentate nucleus as well at lower levels in some other brain regions. Isoform 1 was ubiquitously expressed, whereas isoform 2 was not expressed in the brain, heart, skeletal muscle, or skin. Both isoforms 1 and 2 facilitated Mn uptake in HEK293 cells, but isoform 2 showed a greater ability to do so. Mn resulted in an increase only in transcription of zebrafish slc39a14 isoform 2. (In the article by <a href="#19" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al. (2016)</a>, there is a discrepancy in the isoforms encoded by exons 4A and 4B; <a href="#20" class="mim-tip-reference" title="Tuschl, K. <strong>Personal Communication.</strong> London, U.K. July 22, 2016."None>Tuschl (2016)</a> confirmed that isoform 1 is encoded by exon 4B and isoform 2 is encoded by exon 4A.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27231142" 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="Hendrickx, G., Borra, V. M., Steenackers, E., Yorgan, T. A., Hermans, C., Boudin, E., Waterval, J. J., Jansen, I. D. C., Aydemir, T. B., Kamerling, N., Behets, G. J., Plumeyer, C., and 10 others. <strong>Conditional mouse models support the role of SLC39A14 (ZIP14) in hyperostosis cranialis interna and in bone homeostasis.</strong> PLoS Genet. 14: e1007321, 2018. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29621230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29621230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29621230[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/10.1371/journal.pgen.1007321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29621230">Hendrickx et al. (2018)</a> performed immunohistochemistry on sections of giant cell tumor and osteoblastoma tissue, and detected expression of ZIP14 in the osteoclast-like giant cells and osteoblasts of osteoblastoma tissue. However, ZIP14 was not expressed in osteocytes from those tissues. Quantitative RT-PCR in mouse mesenchymal stem cells showed that expression of Zip14 was stable during proliferation and maturation of osteoblast differentiation, and rose during the mineralization phase. In addition, there was 2-fold greater expression of Zip14 in osteoclasts of mouse calvaria compared to long bones. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29621230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By PCR of a human/rodent hybrid panel, <a href="#12" class="mim-tip-reference" title="Nomura, N., Nagase, T., Miyajima, N., Sazuka, T., Tanaka, A., Sato, S., Seki, N., Kawarabayasi, Y., Ishikawa, K., Tabata, S. <strong>Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1.</strong> DNA Res. 1: 223-229, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7584044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7584044</a>] [<a href="https://doi.org/10.1093/dnares/1.5.223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7584044">Nomura et al. (1994)</a> mapped the SLC39A14 gene to chromosome 8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7584044" 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="#3" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 6/9/2016."None>Hartz (2016)</a> mapped the SLC39A14 gene to chromosome 8p21.3 based on an alignment of the SLC39A14 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=D31887" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">D31887</a>) with the genomic sequence (GRCh38).</p>
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<p><a href="#9" class="mim-tip-reference" title="Liuzzi, J. P., Lichten, L. A., Rivera, S., Blanchard, R. K., Aydemir, T. B., Knutson, M. D., Ganz, T., Cousins, R. J. <strong>Interleukin-6 regulates the zinc transporter Zip14 in liver and contributes to the hypozincemia of the acute-phase response.</strong> Proc. Nat. Acad. Sci. 102: 6843-6848, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15863613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15863613</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15863613[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0502257102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15863613">Liuzzi et al. (2005)</a> found that Zip14 was the most upregulated zinc transporter in response to turpentine-induced inflammation or lipopolysaccharide (LPS) in mouse liver. Il6 (<a href="/entry/147620">147620</a>) -/- mice exhibited neither hypozincemia nor Zip14 induction with turpentine-induced inflammation, and the hypozincemic response was milder in Il6 -/- mice exposed to LPS than in wildtype mice. Northern blot analysis revealed liver-specific upregulation of a single Zip14 transcript. Immunohistochemical analysis showed increased expression of Zip14 on the plasma membrane of hepatocytes in response to both LPS and turpentine. Il6 also produced increased expression of Zip14 in primary hepatocyte cultures and localization of the Zip14 protein to the plasma membrane. Transfection of mouse Zip14 cDNA into human embryonic kidney cells increased zinc uptake. <a href="#9" class="mim-tip-reference" title="Liuzzi, J. P., Lichten, L. A., Rivera, S., Blanchard, R. K., Aydemir, T. B., Knutson, M. D., Ganz, T., Cousins, R. J. <strong>Interleukin-6 regulates the zinc transporter Zip14 in liver and contributes to the hypozincemia of the acute-phase response.</strong> Proc. Nat. Acad. Sci. 102: 6843-6848, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15863613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15863613</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15863613[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0502257102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15863613">Liuzzi et al. (2005)</a> concluded that ZIP14 is a zinc importer upregulated by IL6 that plays a major role in the hypozincemia accompanying the acute-phase response to inflammation and infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15863613" 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="#16" class="mim-tip-reference" title="Taylor, K. M., Morgan, H. E., Johnson, A., Nicholson, R. I. <strong>Structure-function analysis of a novel member of the LIV-1 subfamily of zinc transporters, ZIP14.</strong> FEBS Lett. 579: 427-432, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15642354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15642354</a>] [<a href="https://doi.org/10.1016/j.febslet.2004.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15642354">Taylor et al. (2005)</a> found that transfected CHO cells expressing human ZIP14 exhibited elevated intracellular zinc concentration in response to increased extracellular zinc concentration. Zinc transport required all transmembrane domains of ZIP14, and no transport was evident when experiments were repeated at 4 degrees C. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15642354" 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="#8" class="mim-tip-reference" title="Liuzzi, J. P., Aydemir, F., Nam, H., Knutson, M. D., Cousins, R. J. <strong>Zip14 (Slc39a14) mediates non-transferrin-bound iron uptake into cells.</strong> Proc. Nat. Acad. Sci. 103: 13612-13617, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16950869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16950869</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16950869[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0606424103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16950869">Liuzzi et al. (2006)</a> analyzed the capability of mouse Zip14 to mediate uptake of non-TF-bound iron following expression in human and insect cells. Zip14 localized to the plasma membrane, and its overexpression increased uptake of both radiolabeled zinc and iron. Iron was taken up as Fe(2+), and uptake was inhibited by zinc. Suppression of endogenous Zip14 in mouse hepatocytes by small interfering RNA (siRNA) reduced uptake of both iron and zinc. Zip14 siRNA also decreased metallothionein (see <a href="/entry/156350">156350</a>) mRNA levels, suggesting that compensatory mechanisms were not sufficient to restore intracellular zinc. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16950869" 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="Gao, J., Zhao, N., Knutson, M. D., Enns, C. A. <strong>The hereditary hemochromatosis protein, HFE, inhibits iron uptake via down-regulation of Zip14 in HepG2 cells.</strong> J. Biol. Chem. 283: 21462-21468, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18524764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18524764</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18524764[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/10.1074/jbc.M803150200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18524764">Gao et al. (2008)</a> found that knockdown of ZIP14 in human HepG2 hepatoma cells abolished the inhibitory effect of HFE (<a href="/entry/613609">613609</a>) on uptake of non-TF-bound iron. Expression of ZIP14 in HeLa cells significantly increased uptake of non-TF-bound iron. HFE appeared to reduce the stability of ZIP14 protein and had no effect on ZIP14 mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18524764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Zhao, N., Gao, J., Enns, C. A., Knutson, M. D. <strong>ZRT/IRT-like protein 14 (ZIP14) promotes the cellular assimilation of iron from transferrin.</strong> J. Biol. Chem. 285: 32141-32150, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20682781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20682781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20682781[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/10.1074/jbc.M110.143248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20682781">Zhao et al. (2010)</a> found that expression of mouse Zip14 in HEK293T cells increased uptake of radiolabeled Fe at pH 7.5 and 6.5, but not at pH 5.5. Knockdown of ZIP14 in HepG2 cells reduced assimilation of Fe from Fe-TF. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20682781" 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="#15" class="mim-tip-reference" title="Steimle, B. L., Smith, F. M., Kosman, D. J. <strong>The solute carriers ZIP8 and ZIP14 regulate manganese accumulation in brain microvascular endothelial cells and control brain manganese levels.</strong> J. Biol. Chem. 294: 19197-19208, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31699897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31699897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31699897[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/10.1074/jbc.RA119.009371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31699897">Steimle et al. (2019)</a> demonstrated that ZIP8 (<a href="/entry/608732">608732</a>) and ZIP14 were both localized to the apical and basolateral membranes in brain microvascular capillary endothelial cells (BMVECs), with ZIP14 as the predominant transporter at the basal surface. The cells accumulated manganese from both the abluminal and luminal faces in polarized BMVEC cultures, and siRNA studies indicated that both transporters had a role in the basal and apical transport of manganese. However, as ZIP14 was the predominant transporter at the basal surface, knockdown of ZIP14 had a more robust effect on basal rather than apical manganese uptake. <a href="#15" class="mim-tip-reference" title="Steimle, B. L., Smith, F. M., Kosman, D. J. <strong>The solute carriers ZIP8 and ZIP14 regulate manganese accumulation in brain microvascular endothelial cells and control brain manganese levels.</strong> J. Biol. Chem. 294: 19197-19208, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31699897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31699897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31699897[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/10.1074/jbc.RA119.009371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31699897">Steimle et al. (2019)</a> concluded that ZIP14 has a role in manganese secretory flow out of the brain, whereas ZIP8 has a role in both manganese uptake and brain accumulation as well as secretory flow of manganese out of the brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31699897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Scheiber, I. F., Wu, Y., Morgan, S. E., Zhao, N. <strong>The intestinal metal transporter ZIP14 maintains systemic manganese homeostasis.</strong> J. Biol. Chem. 294: 9147-9160, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31028174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31028174</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31028174[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/10.1074/jbc.RA119.008762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31028174">Scheiber et al. (2019)</a> established polarized cultures of wildtype and ZIP14 knockout CaCo-2 cells. In wildtype CaCo-2 cells, immunoblotting for ZIP14 demonstrated enrichment of ZIP14 at the basolateral membrane. Manganese transport studies in the polarized cells showed that ZIP14 knockout cells had severe impairment of basolateral to apical (or secretory) manganese transport and enhanced manganese transport in the apical to basolateral (absorptive) direction. <a href="#14" class="mim-tip-reference" title="Scheiber, I. F., Wu, Y., Morgan, S. E., Zhao, N. <strong>The intestinal metal transporter ZIP14 maintains systemic manganese homeostasis.</strong> J. Biol. Chem. 294: 9147-9160, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31028174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31028174</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31028174[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/10.1074/jbc.RA119.008762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31028174">Scheiber et al. (2019)</a> concluded that these studies supported ZIP14 as the major transporter mediating basolateral manganese uptake in enterocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31028174" 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><strong><em>Hypermanganesemia with Dystonia 2</em></strong></p><p>
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In 8 patients from 5 unrelated consanguineous families with hypermanganesemia with dystonia-2 (HMNDYT2; <a href="/entry/617013">617013</a>), <a href="#19" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al. (2016)</a> identified 5 different homozygous mutations in the SLC39A14 gene (<a href="#0001">608736.0001</a>-<a href="#0005">608736.0005</a>), including 2 truncating and 3 missense mutations. Transfection of the missense mutations into HEK293 cells showed that the mutant protein was expressed and localized normally, but resulted in decreased Mn uptake compared to wildtype, consistent with a loss of function. One of the patients had a mutation that affected only isoform 2, which is not expressed in the brain. However, the phenotype of this patient was similar to that of the other patients, suggesting that cerebral deposition of Mn in this disorder arises secondarily from an increased systemic load of Mn rather than a primary defect of Mn clearance in the brain. <a href="#19" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al. (2016)</a> postulated that loss-of-function mutations in SLC39A14 lead to impaired hepatic Mn uptake with resultant hypermanganesemia and downstream neurotoxic effects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27231142" 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 whole-exome sequencing in 2 unrelated children from the United Arab Emirates with HMDNY2, <a href="#13" class="mim-tip-reference" title="Rodan, L. H., Hauptman, M., D'Gama, A. M., Qualls, A. E., Cao, S., Tuschl, K., Al-Jasmi, F., Hertecant, J., Hayflick, S. J., Wessling-Resnick, M., Yang, E. T., Berry, G. T., Gropman, A., Woolf, A. D., Agrawal, P. B. <strong>Novel founder intronic variant in SLC39A14 in two families causing manganism and potential treatment strategies.</strong> Molec. Genet. Metab. 124: 161-167, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29685658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29685658</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29685658[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.04.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29685658">Rodan et al. (2018)</a> identified homozygosity for the same intronic mutation in the SLC3A14 gene (<a href="#0007">608736.0007</a>). The parents of 1 patient, who were consanguineous, were confirmed to be heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29685658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with HMNDYT2, <a href="#7" class="mim-tip-reference" title="Juneja, M., Shamim, U., Joshi, A., Mathur, A., Uppili, B., Sairam, S., Ambawat, S., Dixit, R., Faruq, M. <strong>A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia.</strong> J. Gene Med. 20: e3012, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29498153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29498153</a>] [<a href="https://doi.org/10.1002/jgm.3012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29498153">Juneja et al. (2018)</a> identified a homozygous mutation in the SLC39A14 gene (R128W; <a href="#0008">608736.0008</a>). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29498153" 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 an Arab Libyan patient, born to consanguineous parents, with HMNDYT2, <a href="#21" class="mim-tip-reference" title="Zeglam, A., Abugrara, A., Kabuka, M. <strong>Autosomal-recessive iron deficiency anemia, dystonia and hypermanganesemia caused by new variant anemia, dystonia and hypermanganesemia caused by new variant mutation of the manganese transporter gene SLC39A14.</strong> Acta Neurol. Belg. 119: 379-384, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30232769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30232769</a>] [<a href="https://doi.org/10.1007/s13760-018-1024-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30232769">Zeglam et al. (2019)</a> identified a homozygous missense mutation in the SLC39A14 gene (P379L; <a href="#0009">608736.0009</a>). The mutation was found by whole-exome sequencing. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30232769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 65-year-old Ashkenazi Jewish woman, born to consanguineous parents, with HMNDYT2, <a href="#11" class="mim-tip-reference" title="Namnah, M., Bauer, M., Mor-Shaked, H., Bressman, S. B., Raymond, D., Ozelius, L. J., Arkadir, D. <strong>Benign SLC39A14 course of dystonia-parkinsonism secondary to inherited manganese accumulation. (Letter)</strong> Mov. Disord. Clin. Pract. 7: 569-570, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32626807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32626807</a>] [<a href="https://doi.org/10.1002/mdc3.12947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32626807">Namnah et al. (2020)</a> identified a homozygous missense mutation in the SLC39A14 gene (G356S; <a href="#0010">608736.0010</a>). The mutation was identified by whole-exome sequencing. Functional studies were not performed. The patient had a clinical history of long-term dysarthria and dystonia and an elevated blood manganese level. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32626807" 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><strong><em>Hyperostosis Cranialis Interna</em></strong></p><p>
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In affected members of a Dutch pedigree with hyperostosis cranialis interna (HCIN; <a href="/entry/144755">144755</a>), <a href="#4" class="mim-tip-reference" title="Hendrickx, G., Borra, V. M., Steenackers, E., Yorgan, T. A., Hermans, C., Boudin, E., Waterval, J. J., Jansen, I. D. C., Aydemir, T. B., Kamerling, N., Behets, G. J., Plumeyer, C., and 10 others. <strong>Conditional mouse models support the role of SLC39A14 (ZIP14) in hyperostosis cranialis interna and in bone homeostasis.</strong> PLoS Genet. 14: e1007321, 2018. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29621230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29621230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29621230[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/10.1371/journal.pgen.1007321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29621230">Hendrickx et al. (2018)</a> identified heterozygosity for a missense mutation (L441R; <a href="#0006">608736.0006</a>) in the SLC39A14 gene that segregated fully with disease in the family and was not found in 100 controls or in public variant databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29621230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By injecting ferric citrate to saturate Tf and increase plasma non-Tf-bound iron, <a href="#6" class="mim-tip-reference" title="Jenkitkasemwong, S., Wang, C.-Y., Coffey, R., Zhang, W., Chan, A., Biel, T., Kim, J.-S., Hojyo, S., Fukada, T., Knutson, M. D. <strong>SLC39A14 is required for the development of hepatocellular iron overload in murine models of hereditary hemochromatosis.</strong> Cell Metab. 22: 138-150, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26028554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26028554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26028554[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cmet.2015.05.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26028554">Jenkitkasemwong et al. (2015)</a> found that liver and pancreas of Slc39a14 -/- mice were resistant to iron overload compared with wildtype. In contrast, iron uptake in other Slc39a14 -/- tissues was higher than wildtype. Loss of Slc39a14 also countered iron accumulation in liver following dietary iron overload. Loss of Slc39a14 prevented hepatic iron overload in the Hfe -/- and Hfe2 (HJV; <a href="/entry/608374">608374</a>) -/- mouse models of hemochromatosis (see <a href="/entry/235200">235200</a>). However, loss of Slc39a14 did not prevent iron accumulation in other tissues and cells of Hfe -/- or Hfe2 -/- mice, but instead resulted in altered patterns of iron accumulation compared with single-knockout or wildtype mice. <a href="#6" class="mim-tip-reference" title="Jenkitkasemwong, S., Wang, C.-Y., Coffey, R., Zhang, W., Chan, A., Biel, T., Kim, J.-S., Hojyo, S., Fukada, T., Knutson, M. D. <strong>SLC39A14 is required for the development of hepatocellular iron overload in murine models of hereditary hemochromatosis.</strong> Cell Metab. 22: 138-150, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26028554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26028554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26028554[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cmet.2015.05.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26028554">Jenkitkasemwong et al. (2015)</a> concluded that SLC39A14 is required for development of hepatic iron overload in hereditary hemochromatosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26028554" 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="#18" class="mim-tip-reference" title="Troche, C., Aydemir, T. B., Cousins, R. J. <strong>Zinc transporter Slc39a14 regulates inflammatory signaling associated with hypertrophic adiposity.</strong> Am. J. Physiol. Endocr. Metab. 310: E258-E268, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26646099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26646099</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26646099[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/10.1152/ajpendo.00421.2015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26646099">Troche et al. (2016)</a> found that acute inflammation following injection of lipopolysaccharide (LPS) in mice induced expression of Zip14, which correlated with upregulated expression of cytokines. Knockout of Zip14 in mice caused changes in white adipose tissue, including increased cytokine production, increased plasma leptin (LEP; <a href="/entry/164160">164160</a>), hypertrophied adipocytes, altered lipid homeostasis, elevated total cellular zinc content, and dampened insulin signaling. Adipose tissue from Zip14 -/- mice had increased levels of preadipocyte markers, lower expression of a differentiation marker, and activation of the NF-kappa-B (see <a href="/entry/164011">164011</a>) and Stat3 (<a href="/entry/102582">102582</a>) pathways. These changes were accompanied by systemic endotoxemia. Metabolic changes in adipose were reversed following administration of oral antibiotics. Knockdown of Zip14 via siRNA in 3T3-L1 mouse adipocytes resulted in impaired ability to mobilize zinc, which caused dysregulation of inflammatory pathways following LPS stimulation. <a href="#18" class="mim-tip-reference" title="Troche, C., Aydemir, T. B., Cousins, R. J. <strong>Zinc transporter Slc39a14 regulates inflammatory signaling associated with hypertrophic adiposity.</strong> Am. J. Physiol. Endocr. Metab. 310: E258-E268, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26646099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26646099</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26646099[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/10.1152/ajpendo.00421.2015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26646099">Troche et al. (2016)</a> hypothesized that deletion of Zip14 may limit the availability of intracellular zinc, yielding the phenotype of inflammation with hypertrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26646099" 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="#19" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al. (2016)</a> found that knockdown of the slc39a14 gene in zebrafish resulted in increased Mn levels, but unchanged Fe, Zn, and Cd levels. The mutant animals survived into adulthood without any obvious morphologic or developmental defects. However, exposure to Mn resulted in decreased locomotor activity and increased sensitivity to Mn-induced toxicity compared to wildtype. Mn accumulated predominantly in the brain of mutant animals, but not in the viscera. Treatment of mutant larvae with a chelator resulted in decreased levels of Mn uptake. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27231142" 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="Hendrickx, G., Borra, V. M., Steenackers, E., Yorgan, T. A., Hermans, C., Boudin, E., Waterval, J. J., Jansen, I. D. C., Aydemir, T. B., Kamerling, N., Behets, G. J., Plumeyer, C., and 10 others. <strong>Conditional mouse models support the role of SLC39A14 (ZIP14) in hyperostosis cranialis interna and in bone homeostasis.</strong> PLoS Genet. 14: e1007321, 2018. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29621230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29621230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29621230[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/10.1371/journal.pgen.1007321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29621230">Hendrickx et al. (2018)</a> analyzed calvaria of Zip14 +/+ and Zip14 -/- mice and found no significant differences in calvarial thickness or porosity. The authors generated mice with ubiquitous expression of the L441R mutation (see <a href="#0001">608736.0001</a>) and observed perinatal lethality. Conditional expression of L441R in osteoblasts showed no significant differences in calvarial parameters; however, analysis of the femora showed a marked increase in cortical thickness due to enhanced endosteal bone formation. In addition, there was an osteoporotic trabecular bone phenotype. The authors concluded that ZIP14 is a regulator of bone homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29621230" 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="#5" class="mim-tip-reference" title="Jenkitkasemwong, S., Akinyode, A., Paulus, E., Weiskirchen, R., Hojyo, S., Fukada, T., Giraldo, G., Schrier, J., Garcia, A., Janus, C., Giasson, B., Knutson, M. D. <strong>SLC39A14 deficiency alters manganese homeostasis and excretion resulting in brain manganese accumulation and motor deficits in mice.</strong> Proc. Nat. Acad. Sci. 115: E1769-E1778, 2018. Note: Erratum: Proc. Nat. Acad. Sci. 115: E4730, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29437953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29437953</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29437953[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1720739115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29437953">Jenkitkasemwong et al. (2018)</a> showed that Slc39a14 knockout mice (Slc39a14 -/-) had an abnormal tissue distribution of manganese, including low levels of manganese in the liver and elevated manganese levels in the bone and brain, particularly in the pons, globus pallidus, and cerebellum. The livers of the Slc39a14 -/- mice at 4 weeks of age also had low iron, zinc, and cobalt compared to wildtype mice. Manganese tracer studies in the Slc39a14 -/- mice demonstrated impaired uptake by the liver and pancreas, and reduced excretion from the intestine. The Slc39a14 -/- mice had locomotor abnormalities. A low manganese diet in the Slc39a14 -/- mice resulted in normal brain manganese levels but not in correction of motor defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29437953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Scheiber, I. F., Wu, Y., Morgan, S. E., Zhao, N. <strong>The intestinal metal transporter ZIP14 maintains systemic manganese homeostasis.</strong> J. Biol. Chem. 294: 9147-9160, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31028174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31028174</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31028174[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/10.1074/jbc.RA119.008762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31028174">Scheiber et al. (2019)</a> generated liver-specific and intestinal-specific Zip14 knockout mice. The liver-specific knockout mice had reduced manganese in the liver and did not have accumulation of manganese in other tissues. The intestinal-specific Zip14 knockout mice had increased hepatic and brain manganese levels. <a href="#14" class="mim-tip-reference" title="Scheiber, I. F., Wu, Y., Morgan, S. E., Zhao, N. <strong>The intestinal metal transporter ZIP14 maintains systemic manganese homeostasis.</strong> J. Biol. Chem. 294: 9147-9160, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31028174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31028174</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31028174[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/10.1074/jbc.RA119.008762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31028174">Scheiber et al. (2019)</a> concluded that intestinal ZIP14 is important for the control of systemic manganese homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31028174" 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 2 sisters (family A), born of consanguineous parents from Yemen, with hypermanganesemia with dystonia-2 (HMNDYT2; <a href="/entry/617013">617013</a>), <a href="#19" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al. (2016)</a> identified a homozygous c.292T-G transversion (c.292T-G, NM_015359.4) in exon 3 of the SLC39A14 gene, resulting in a phe98-to-val (F98V) substitution at a conserved residue. The variant, which was found by a combination of linkage analysis and candidate gene sequencing, was not found in the dbSNP (build 132), 1000 Genomes Project, or ExAC databases; the unaffected parents were heterozygous for the mutation. Transfection of the mutation into HEK293 cells showed that the mutant protein was expressed and localized normally, but resulted in decreased Mn uptake compared to wildtype, consistent with a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27231142" 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">rs879253764 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879253764;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=rs879253764" 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=rs879253764" 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=RCV000234923" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000234923" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000234923</a>
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<p>In a girl (family B), born of consanguineous Egyptian parents, with hypermanganesemia with dystonia-2 (HMNDYT2; <a href="/entry/617013">617013</a>), <a href="#19" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al. (2016)</a> identified a homozygous c.313G-T transversion (c.313G-T, NM_015359.4) in exon 3 of the SLC39A14 gene, resulting in a glu105-to-ter (E105X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP (build 132), 1000 Genomes Project, or ExAC databases; the unaffected parents were heterozygous for the mutation. The patient had a similarly affected sister who died at age 13 months, but genetic material was not available from the sister. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27231142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 24-month-old girl (14DG0924), born to consanguineous parents, with HMNDYT2, <a href="#1" class="mim-tip-reference" title="Anazi, S., Maddirevula, S., Faqeih, E., Alsedairy, H., Alzahrani, F., Shamseldin, H. E., Patel, N., Hashem, M., Ibrahim, N., Abdulwahab, F., Ewida, N., Alsaif, H. S., and 36 others. <strong>Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.</strong> Molec. Psychiat. 22: 615-624, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27431290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27431290</a>] [<a href="https://doi.org/10.1038/mp.2016.113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27431290">Anazi et al. (2017)</a> identified homozygosity for the E105X mutation in the SLC39A14 gene. The mutation was identified by whole-exome sequencing. The patient, who had developmental regression, abnormal globus pallidus signal on brain MRI, and elevated blood manganese, had a similarly affected, deceased sister. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27431290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 HYPERMANGANESEMIA WITH DYSTONIA 2</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">rs879253765 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879253765;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=rs879253765" 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=rs879253765" 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=RCV000234924" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000234924" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000234924</a>
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<p>In a girl (family C), born of consanguineous Indian parents, with hypermanganesemia with dystonia-2 (HMNDYT2; <a href="/entry/617013">617013</a>), <a href="#19" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al. (2016)</a> identified a homozygous 2-bp deletion (c.477_478del, NM_015359.4) in exon 4A of the SLC39A14 gene, resulting in a frameshift and premature termination (Ser160CysfsTer5). The mutation, which was found by Sanger sequencing, was not found in the dbSNP (build 132), 1000 Genomes Project, or ExAC databases; the unaffected parents were heterozygous for the mutation. The mutation affected only isoform 2 of the gene, but the patient's phenotype was similar to patients with other mutations. However, this patient responded well to chelation therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27231142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0004 HYPERMANGANESEMIA WITH DYSTONIA 2</strong>
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SLC39A14, GLY383ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879253766 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879253766;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=rs879253766" 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=rs879253766" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000234927" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000234927" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000234927</a>
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<p>In a boy (family D), born of consanguineous Spanish parents, with hypermanganesemia with dystonia-2 (HMNDYT2; <a href="/entry/617013">617013</a>), <a href="#19" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al. (2016)</a> identified a homozygous c.1147G-A transition (c.1147G-A, NM_015359.4) in the last nucleotide of exon 7 of the SLC39A14 gene, resulting in a gly383-to-arg (G383R) substitution at a conserved residue in a motif required for metal binding. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP (build 132), 1000 Genomes Project, or ExAC databases; segregation analysis within the family was not possible. The patient died at age 4 years. Transfection of the mutation into HEK293 cells showed that the mutant protein was expressed and localized normally, but resulted in decreased Mn uptake compared to wildtype, consistent with a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27231142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 HYPERMANGANESEMIA WITH DYSTONIA 2</strong>
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SLC39A14, ASN469LYS
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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> rs750281602 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs750281602;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/rs750281602?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=rs750281602" 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=rs750281602" 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=RCV000234922" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000234922" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000234922</a>
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<p>In 3 sibs (family E), born of consanguineous Lebanese parents, with hypermanganesemia with dystonia-2 (HMNDYT2; <a href="/entry/617013">617013</a>), <a href="#19" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al. (2016)</a> identified a homozygous c.1407C-G transversion (c.1407C-G, NM_015359.4) in exon 9 of the SLC39A14 gene, resulting in an asn469-to-lys (N469K) substitution at a highly conserved residue. The mutation, which was found by a combination of linkage analysis and whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP (build 132), 1000 Genomes Project, or ExAC databases. Each unaffected parent was heterozygous for the mutation. Transfection of the mutation into HEK293 cells showed that the mutant protein was expressed and localized normally, but resulted in decreased Mn uptake compared to wildtype, consistent with a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27231142" 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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SLC39A14, LEU441ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554520924 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554520924;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=rs1554520924" 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=rs1554520924" 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=RCV000626416" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000626416" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000626416</a>
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<p>In affected members of a Dutch pedigree with hyperostosis cranialis interna (HCIN; <a href="/entry/144755">144755</a>), originally reported by <a href="#10" class="mim-tip-reference" title="Manni, J. J., Scaf, J. J., Huygen, P. L. M., Cruysberg, J. R. M., Verhagen, W. I. M. <strong>Hyperostosis cranialis interna.: a new hereditary syndrome with cranial-nerve entrapment.</strong> New Eng. J. Med. 322: 450-454, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300107</a>] [<a href="https://doi.org/10.1056/NEJM199002153220707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2300107">Manni et al. (1990)</a>, <a href="#4" class="mim-tip-reference" title="Hendrickx, G., Borra, V. M., Steenackers, E., Yorgan, T. A., Hermans, C., Boudin, E., Waterval, J. J., Jansen, I. D. C., Aydemir, T. B., Kamerling, N., Behets, G. J., Plumeyer, C., and 10 others. <strong>Conditional mouse models support the role of SLC39A14 (ZIP14) in hyperostosis cranialis interna and in bone homeostasis.</strong> PLoS Genet. 14: e1007321, 2018. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29621230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29621230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29621230[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/10.1371/journal.pgen.1007321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29621230">Hendrickx et al. (2018)</a> identified heterozygosity for a c.1322T-G transversion (c.1322T-G, NM_001128431.2) in exon 8 of the SLC39A14 gene, resulting in a leu441-to-arg (L441R) substitution at a highly conserved residue. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated fully with disease in the family and was not found in 100 ethnically matched controls or in the dbSNP, 1000 Genomes Project, or ExAC databases. Functional analysis in HEK293 cells demonstrated that unlike wildtype ZIP14, the L441R mutant did not localize to the plasma membrane, and there were no signs of zinc uptake in cells transfected with L441R. Overexpression of the L441R mutant resulted in a significant increase in intracellular zinc accumulation, greater than that for wildtype ZIP14, indicating that labile zinc was trapped in the mutant cells. Analysis of patient skull and first cervical vertebra biopsy specimens compared to control skull biopsy showed severe involvement of the patient internal cortex, which was wider than that of the control and characterized by a great and dense amount of well-organized bone, suggesting increased bone formation or decreased bone resorption. The number of Haversian channels and number of osteocytes were significantly lower in the patient internal cortex compared to patient external cortex and cervical vertebra cortex or control internal cortex. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2300107+29621230" 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">rs1039778197 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1039778197;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=rs1039778197" 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=rs1039778197" 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=RCV000515834 OR RCV004798841" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000515834, RCV004798841" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000515834...</a>
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<p>In 2 unrelated children from the United Arab Emirates with hypermanganesemia with dystonia-2 (HMNDYT2; <a href="/entry/617013">617013</a>), <a href="#13" class="mim-tip-reference" title="Rodan, L. H., Hauptman, M., D'Gama, A. M., Qualls, A. E., Cao, S., Tuschl, K., Al-Jasmi, F., Hertecant, J., Hayflick, S. J., Wessling-Resnick, M., Yang, E. T., Berry, G. T., Gropman, A., Woolf, A. D., Agrawal, P. B. <strong>Novel founder intronic variant in SLC39A14 in two families causing manganism and potential treatment strategies.</strong> Molec. Genet. Metab. 124: 161-167, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29685658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29685658</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29685658[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.04.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29685658">Rodan et al. (2018)</a> identified a homozygous splice site mutation (c.751C-G, NM_001128431) in intron 5 (IVS5-9C-G) of the SLC39A14 gene, leading to aberrant splicing between exons 5 and 6 and an early stop codon in intron 5. The parents of 1 of the patients were confirmed to be heterozygous for the mutation. Quantitative RT-PCR analysis of SLC39A14 in fibroblasts from 1 patient confirmed aberrant splicing and showed decreased transcript levels around the region of the variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29685658" 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> rs1291490743 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1291490743;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/rs1291490743?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=rs1291490743" 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=rs1291490743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 1-year-old patient with hypermanganesemia with dystonia-2 (HMNDYT2; <a href="/entry/617013">617013</a>), <a href="#7" class="mim-tip-reference" title="Juneja, M., Shamim, U., Joshi, A., Mathur, A., Uppili, B., Sairam, S., Ambawat, S., Dixit, R., Faruq, M. <strong>A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia.</strong> J. Gene Med. 20: e3012, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29498153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29498153</a>] [<a href="https://doi.org/10.1002/jgm.3012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29498153">Juneja et al. (2018)</a> identified a homozygous c.382C-T transition (c.382C-T, NM_015359) in the SLC39A14 gene, resulting in an arg128-to-trp (R128W) substitution. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The mutation was not present in the ExAC database. Functional studies were not performed. The patient had a history of neurodegeneration with dystonia, elevated blood manganese levels, and abnormal MRI signal in the globus pallidus and dentate nucleus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29498153" 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">rs1015949817 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1015949817;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=rs1015949817" 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=rs1015949817" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 3-year-old Arab Libyan patient, born to consanguineous parents, with hypermanganesemia with dystonia-2 (HMNDYT2; 617013), <a href="#21" class="mim-tip-reference" title="Zeglam, A., Abugrara, A., Kabuka, M. <strong>Autosomal-recessive iron deficiency anemia, dystonia and hypermanganesemia caused by new variant anemia, dystonia and hypermanganesemia caused by new variant mutation of the manganese transporter gene SLC39A14.</strong> Acta Neurol. Belg. 119: 379-384, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30232769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30232769</a>] [<a href="https://doi.org/10.1007/s13760-018-1024-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30232769">Zeglam et al. (2019)</a> identified homozygosity for a c.1136C-T transition (c.1336C-T, NM_001128431.2) in the SLC39A14 gene, resulting in a pro379-to-leu (P379L) substitution. The mutation was identified by whole-exome sequencing. Functional studies were not performed. The patient had hypermanganesemia, dystonia, and iron deficiency anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30232769" 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> rs774860376 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs774860376;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/rs774860376?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=rs774860376" 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=rs774860376" 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=RCV000523828 OR RCV001814184" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000523828, RCV001814184" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000523828...</a>
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<p>In a 65-year-old Ashkenazi Jewish woman, born to consanguineous parents, with hypermanganesemia with dystonia-2 (HMNDYT2; <a href="/entry/617013">617013</a>), <a href="#11" class="mim-tip-reference" title="Namnah, M., Bauer, M., Mor-Shaked, H., Bressman, S. B., Raymond, D., Ozelius, L. J., Arkadir, D. <strong>Benign SLC39A14 course of dystonia-parkinsonism secondary to inherited manganese accumulation. (Letter)</strong> Mov. Disord. Clin. Pract. 7: 569-570, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32626807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32626807</a>] [<a href="https://doi.org/10.1002/mdc3.12947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32626807">Namnah et al. (2020)</a> identified homozygosity for a c.1066G-A transition (chr8.22273712G-A, GRCh37) at a conserved site in the SLC39A14 gene, resulting in a gly356-to-ser (G356S) substitution. The mutation was found by whole-exome sequencing. The mutation was present in the gnomAD database at a frequency of 1 in 3,316 in Ashkenazi Jews and a frequency of 1 in 42,004 in Africans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32626807" 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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Anazi, S., Maddirevula, S., Faqeih, E., Alsedairy, H., Alzahrani, F., Shamseldin, H. E., Patel, N., Hashem, M., Ibrahim, N., Abdulwahab, F., Ewida, N., Alsaif, H. S., and 36 others.
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<strong>Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.</strong>
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Molec. Psychiat. 22: 615-624, 2017.
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[<a href="https://doi.org/10.1038/mp.2016.113" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1371/journal.pgen.1007321" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.1720739115" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.cmet.2015.05.002" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/jgm.3012" target="_blank">Full Text</a>]
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<a id="Taylor2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Taylor, K. M., Nicholson, R. I.
|
|
<strong>The LZT proteins; the LIV-1 subfamily of zinc transporters.</strong>
|
|
Biochim. Biophys. Acta 1611: 16-30, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12659941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12659941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12659941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
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|
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[<a href="https://doi.org/10.1016/s0005-2736(03)00048-8" target="_blank">Full Text</a>]
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|
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</p>
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</div>
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</li>
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<li>
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<a id="18" class="mim-anchor"></a>
|
|
<a id="Troche2016" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Troche, C., Aydemir, T. B., Cousins, R. J.
|
|
<strong>Zinc transporter Slc39a14 regulates inflammatory signaling associated with hypertrophic adiposity.</strong>
|
|
Am. J. Physiol. Endocr. Metab. 310: E258-E268, 2016.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26646099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26646099</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26646099[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=26646099" 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/10.1152/ajpendo.00421.2015" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Tuschl2016" class="mim-anchor"></a>
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<div class="">
|
|
<p class="mim-text-font">
|
|
Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others.
|
|
<strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong>
|
|
Nature Commun. 7: 11601, 2016. Note: Electronic Article.
|
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|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[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=27231142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1038/ncomms11601" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="20" class="mim-anchor"></a>
|
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<a id="Tuschl2016" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Tuschl, K.
|
|
<strong>Personal Communication.</strong>
|
|
London, U.K. July 22, 2016.
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</p>
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</div>
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</li>
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<li>
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<a id="21" class="mim-anchor"></a>
|
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<a id="Zeglam2019" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Zeglam, A., Abugrara, A., Kabuka, M.
|
|
<strong>Autosomal-recessive iron deficiency anemia, dystonia and hypermanganesemia caused by new variant anemia, dystonia and hypermanganesemia caused by new variant mutation of the manganese transporter gene SLC39A14.</strong>
|
|
Acta Neurol. Belg. 119: 379-384, 2019.
|
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|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30232769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30232769</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30232769" 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/s13760-018-1024-7" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
|
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<a id="Zhao2010" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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Zhao, N., Gao, J., Enns, C. A., Knutson, M. D.
|
|
<strong>ZRT/IRT-like protein 14 (ZIP14) promotes the cellular assimilation of iron from transferrin.</strong>
|
|
J. Biol. Chem. 285: 32141-32150, 2010.
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20682781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20682781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20682781[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=20682781" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M110.143248" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Hilary J. Vernon - updated : 01/18/2022
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</span>
|
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</div>
|
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</div>
|
|
<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">
|
|
Hilary J. Vernon - updated : 04/28/2020<br>Marla J. F. O'Neill - updated : 05/02/2018<br>Cassandra L. Kniffin - updated : 6/30/2016<br>Patricia A. Hartz - updated : 6/9/2016<br>Paul J. Converse - updated : 2/4/2009<br>Patricia A. Hartz - updated : 10/18/2006
|
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</span>
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</div>
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</div>
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</div>
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<div>
|
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<a id="creationDate" class="mim-anchor"></a>
|
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Patricia A. Hartz : 6/14/2004
|
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</span>
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</div>
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</div>
|
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
carol : 06/17/2022
|
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</span>
|
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</div>
|
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</div>
|
|
<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">
|
|
carol : 01/19/2022<br>carol : 01/18/2022<br>carol : 04/28/2020<br>alopez : 06/04/2018<br>carol : 05/02/2018<br>alopez : 10/04/2016<br>carol : 07/22/2016<br>carol : 07/08/2016<br>carol : 7/7/2016<br>ckniffin : 6/30/2016<br>mgross : 6/20/2016<br>mgross : 6/9/2016<br>mgross : 2/4/2009<br>terry : 2/4/2009<br>mgross : 10/19/2006<br>terry : 10/18/2006<br>mgross : 6/15/2004
|
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</span>
|
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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|
|
<div class="container visible-print-block">
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<div class="row">
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|
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<div class="col-md-8 col-md-offset-1">
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<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 608736
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 14; SLC39A14
|
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|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
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<br />
|
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</div>
|
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<div>
|
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<div >
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
ZIP14<br />
|
|
KIAA0062
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: SLC39A14</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 1217210001, 768554008;
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 8p21.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 8:22,367,278-22,434,129 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
8p21.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Hyperostosis cranalis interna
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
144755
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hypermanganesemia with dystonia 2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
617013
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The SLC39A14 gene encodes a divalent metal transporter that transports zinc, manganese, iron, and cadmium (summary by Tuschl et al., 2016). Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation (summary by Taylor and Nicholson, 2003). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
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<p>By sequencing clones obtained from a size-fractionated immature myeloid cell line cDNA library, Nomura et al. (1994) cloned SLC39A14, which they designated KIAA0062. The deduced 531-amino acid protein contains possible transmembrane domains. Northern blot analysis detected SLC39A14 expression in all tissues and cell lines examined. Highest expression was in liver, and lowest expression was in spleen, thymus, and peripheral blood leukocytes. </p><p>By searching databases for sequences similar to a unique motif within LIV-1 (SLC39A6; 608731), Taylor and Nicholson (2003) identified SLC39A14, which they designated LZT-Hs4. SLC39A14 contains a long N terminus, followed by 8 putative transmembrane domains and a short C terminus. It also has a motif similar to the catalytic zinc-binding site of matrix metalloproteases. Expression of SLC39A14 in Chinese hamster ovary cells showed an apparent molecular mass of 53 kD and suggested SLC39A14 has up to 3 N-linked carbohydrate side chains. Under nonreducing conditions, SLC39A14 migrated as a trimer, consistent with the formation of an ion channel. SLC39A14 was expressed on the plasma membrane, colocalized with F-actin, and concentrated on lamellipodiae in a manner similar to membrane-type matrix metalloproteases. </p><p>Using Western blot analysis, Taylor et al. (2005) detected epitope-tagged human ZIP14 as a doublet with an apparent molecular mass of 60 kD, similar to the predicted size of 54 kD. ZIP14 also formed apparent trimers and higher molecular mass species that increased in nonreducing conditions. Immunofluorescence microscopy detected ZIP14 at CHO cell membranes, with particularly dense staining in regions of cell-cell contact. </p><p>Using transfected HepG2 cells, Zhao et al. (2010) found that epitope-tagged human ZIP14 localized to the plasma membrane and partially colocalized with internalized transferrin (TF; 190000) in endosomes, as well as with other endosomal and lysosomal markers. </p><p>The SLC39A1 gene encodes 3 isoforms: isoforms 1 and 2 differ by 20 amino acids encoded by an alternatively spliced exon 4 (4B and 4A, respectively). Isoform 3 has an alternative exon 9, but shares the remaining protein sequence with isoform 1. Tuschl et al. (2016) found expression of the SLC39A1 gene in cell membranes and cytoplasm of human hepatocytes in a punctate pattern. In human brain, SLC39A1 was found in large neurons, especially in the globus pallidus, insular cortex, and dentate nucleus as well at lower levels in some other brain regions. Isoform 1 was ubiquitously expressed, whereas isoform 2 was not expressed in the brain, heart, skeletal muscle, or skin. Both isoforms 1 and 2 facilitated Mn uptake in HEK293 cells, but isoform 2 showed a greater ability to do so. Mn resulted in an increase only in transcription of zebrafish slc39a14 isoform 2. (In the article by Tuschl et al. (2016), there is a discrepancy in the isoforms encoded by exons 4A and 4B; Tuschl (2016) confirmed that isoform 1 is encoded by exon 4B and isoform 2 is encoded by exon 4A.) </p><p>Hendrickx et al. (2018) performed immunohistochemistry on sections of giant cell tumor and osteoblastoma tissue, and detected expression of ZIP14 in the osteoclast-like giant cells and osteoblasts of osteoblastoma tissue. However, ZIP14 was not expressed in osteocytes from those tissues. Quantitative RT-PCR in mouse mesenchymal stem cells showed that expression of Zip14 was stable during proliferation and maturation of osteoblast differentiation, and rose during the mineralization phase. In addition, there was 2-fold greater expression of Zip14 in osteoclasts of mouse calvaria compared to long bones. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By PCR of a human/rodent hybrid panel, Nomura et al. (1994) mapped the SLC39A14 gene to chromosome 8. </p><p>Hartz (2016) mapped the SLC39A14 gene to chromosome 8p21.3 based on an alignment of the SLC39A14 sequence (GenBank D31887) with the genomic sequence (GRCh38).</p>
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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>Liuzzi et al. (2005) found that Zip14 was the most upregulated zinc transporter in response to turpentine-induced inflammation or lipopolysaccharide (LPS) in mouse liver. Il6 (147620) -/- mice exhibited neither hypozincemia nor Zip14 induction with turpentine-induced inflammation, and the hypozincemic response was milder in Il6 -/- mice exposed to LPS than in wildtype mice. Northern blot analysis revealed liver-specific upregulation of a single Zip14 transcript. Immunohistochemical analysis showed increased expression of Zip14 on the plasma membrane of hepatocytes in response to both LPS and turpentine. Il6 also produced increased expression of Zip14 in primary hepatocyte cultures and localization of the Zip14 protein to the plasma membrane. Transfection of mouse Zip14 cDNA into human embryonic kidney cells increased zinc uptake. Liuzzi et al. (2005) concluded that ZIP14 is a zinc importer upregulated by IL6 that plays a major role in the hypozincemia accompanying the acute-phase response to inflammation and infection. </p><p>Taylor et al. (2005) found that transfected CHO cells expressing human ZIP14 exhibited elevated intracellular zinc concentration in response to increased extracellular zinc concentration. Zinc transport required all transmembrane domains of ZIP14, and no transport was evident when experiments were repeated at 4 degrees C. </p><p>Liuzzi et al. (2006) analyzed the capability of mouse Zip14 to mediate uptake of non-TF-bound iron following expression in human and insect cells. Zip14 localized to the plasma membrane, and its overexpression increased uptake of both radiolabeled zinc and iron. Iron was taken up as Fe(2+), and uptake was inhibited by zinc. Suppression of endogenous Zip14 in mouse hepatocytes by small interfering RNA (siRNA) reduced uptake of both iron and zinc. Zip14 siRNA also decreased metallothionein (see 156350) mRNA levels, suggesting that compensatory mechanisms were not sufficient to restore intracellular zinc. </p><p>Gao et al. (2008) found that knockdown of ZIP14 in human HepG2 hepatoma cells abolished the inhibitory effect of HFE (613609) on uptake of non-TF-bound iron. Expression of ZIP14 in HeLa cells significantly increased uptake of non-TF-bound iron. HFE appeared to reduce the stability of ZIP14 protein and had no effect on ZIP14 mRNA. </p><p>Zhao et al. (2010) found that expression of mouse Zip14 in HEK293T cells increased uptake of radiolabeled Fe at pH 7.5 and 6.5, but not at pH 5.5. Knockdown of ZIP14 in HepG2 cells reduced assimilation of Fe from Fe-TF. </p><p>Steimle et al. (2019) demonstrated that ZIP8 (608732) and ZIP14 were both localized to the apical and basolateral membranes in brain microvascular capillary endothelial cells (BMVECs), with ZIP14 as the predominant transporter at the basal surface. The cells accumulated manganese from both the abluminal and luminal faces in polarized BMVEC cultures, and siRNA studies indicated that both transporters had a role in the basal and apical transport of manganese. However, as ZIP14 was the predominant transporter at the basal surface, knockdown of ZIP14 had a more robust effect on basal rather than apical manganese uptake. Steimle et al. (2019) concluded that ZIP14 has a role in manganese secretory flow out of the brain, whereas ZIP8 has a role in both manganese uptake and brain accumulation as well as secretory flow of manganese out of the brain. </p><p>Scheiber et al. (2019) established polarized cultures of wildtype and ZIP14 knockout CaCo-2 cells. In wildtype CaCo-2 cells, immunoblotting for ZIP14 demonstrated enrichment of ZIP14 at the basolateral membrane. Manganese transport studies in the polarized cells showed that ZIP14 knockout cells had severe impairment of basolateral to apical (or secretory) manganese transport and enhanced manganese transport in the apical to basolateral (absorptive) direction. Scheiber et al. (2019) concluded that these studies supported ZIP14 as the major transporter mediating basolateral manganese uptake in enterocytes. </p>
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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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</h4>
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<span class="mim-text-font">
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<p><strong><em>Hypermanganesemia with Dystonia 2</em></strong></p><p>
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In 8 patients from 5 unrelated consanguineous families with hypermanganesemia with dystonia-2 (HMNDYT2; 617013), Tuschl et al. (2016) identified 5 different homozygous mutations in the SLC39A14 gene (608736.0001-608736.0005), including 2 truncating and 3 missense mutations. Transfection of the missense mutations into HEK293 cells showed that the mutant protein was expressed and localized normally, but resulted in decreased Mn uptake compared to wildtype, consistent with a loss of function. One of the patients had a mutation that affected only isoform 2, which is not expressed in the brain. However, the phenotype of this patient was similar to that of the other patients, suggesting that cerebral deposition of Mn in this disorder arises secondarily from an increased systemic load of Mn rather than a primary defect of Mn clearance in the brain. Tuschl et al. (2016) postulated that loss-of-function mutations in SLC39A14 lead to impaired hepatic Mn uptake with resultant hypermanganesemia and downstream neurotoxic effects. </p><p>By whole-exome sequencing in 2 unrelated children from the United Arab Emirates with HMDNY2, Rodan et al. (2018) identified homozygosity for the same intronic mutation in the SLC3A14 gene (608736.0007). The parents of 1 patient, who were consanguineous, were confirmed to be heterozygous for the mutation. </p><p>In a patient with HMNDYT2, Juneja et al. (2018) identified a homozygous mutation in the SLC39A14 gene (R128W; 608736.0008). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. Functional studies were not performed. </p><p>In an Arab Libyan patient, born to consanguineous parents, with HMNDYT2, Zeglam et al. (2019) identified a homozygous missense mutation in the SLC39A14 gene (P379L; 608736.0009). The mutation was found by whole-exome sequencing. Functional studies were not performed. </p><p>In a 65-year-old Ashkenazi Jewish woman, born to consanguineous parents, with HMNDYT2, Namnah et al. (2020) identified a homozygous missense mutation in the SLC39A14 gene (G356S; 608736.0010). The mutation was identified by whole-exome sequencing. Functional studies were not performed. The patient had a clinical history of long-term dysarthria and dystonia and an elevated blood manganese level. </p><p><strong><em>Hyperostosis Cranialis Interna</em></strong></p><p>
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In affected members of a Dutch pedigree with hyperostosis cranialis interna (HCIN; 144755), Hendrickx et al. (2018) identified heterozygosity for a missense mutation (L441R; 608736.0006) in the SLC39A14 gene that segregated fully with disease in the family and was not found in 100 controls or in public variant databases. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By injecting ferric citrate to saturate Tf and increase plasma non-Tf-bound iron, Jenkitkasemwong et al. (2015) found that liver and pancreas of Slc39a14 -/- mice were resistant to iron overload compared with wildtype. In contrast, iron uptake in other Slc39a14 -/- tissues was higher than wildtype. Loss of Slc39a14 also countered iron accumulation in liver following dietary iron overload. Loss of Slc39a14 prevented hepatic iron overload in the Hfe -/- and Hfe2 (HJV; 608374) -/- mouse models of hemochromatosis (see 235200). However, loss of Slc39a14 did not prevent iron accumulation in other tissues and cells of Hfe -/- or Hfe2 -/- mice, but instead resulted in altered patterns of iron accumulation compared with single-knockout or wildtype mice. Jenkitkasemwong et al. (2015) concluded that SLC39A14 is required for development of hepatic iron overload in hereditary hemochromatosis. </p><p>Troche et al. (2016) found that acute inflammation following injection of lipopolysaccharide (LPS) in mice induced expression of Zip14, which correlated with upregulated expression of cytokines. Knockout of Zip14 in mice caused changes in white adipose tissue, including increased cytokine production, increased plasma leptin (LEP; 164160), hypertrophied adipocytes, altered lipid homeostasis, elevated total cellular zinc content, and dampened insulin signaling. Adipose tissue from Zip14 -/- mice had increased levels of preadipocyte markers, lower expression of a differentiation marker, and activation of the NF-kappa-B (see 164011) and Stat3 (102582) pathways. These changes were accompanied by systemic endotoxemia. Metabolic changes in adipose were reversed following administration of oral antibiotics. Knockdown of Zip14 via siRNA in 3T3-L1 mouse adipocytes resulted in impaired ability to mobilize zinc, which caused dysregulation of inflammatory pathways following LPS stimulation. Troche et al. (2016) hypothesized that deletion of Zip14 may limit the availability of intracellular zinc, yielding the phenotype of inflammation with hypertrophy. </p><p>Tuschl et al. (2016) found that knockdown of the slc39a14 gene in zebrafish resulted in increased Mn levels, but unchanged Fe, Zn, and Cd levels. The mutant animals survived into adulthood without any obvious morphologic or developmental defects. However, exposure to Mn resulted in decreased locomotor activity and increased sensitivity to Mn-induced toxicity compared to wildtype. Mn accumulated predominantly in the brain of mutant animals, but not in the viscera. Treatment of mutant larvae with a chelator resulted in decreased levels of Mn uptake. </p><p>Hendrickx et al. (2018) analyzed calvaria of Zip14 +/+ and Zip14 -/- mice and found no significant differences in calvarial thickness or porosity. The authors generated mice with ubiquitous expression of the L441R mutation (see 608736.0001) and observed perinatal lethality. Conditional expression of L441R in osteoblasts showed no significant differences in calvarial parameters; however, analysis of the femora showed a marked increase in cortical thickness due to enhanced endosteal bone formation. In addition, there was an osteoporotic trabecular bone phenotype. The authors concluded that ZIP14 is a regulator of bone homeostasis. </p><p>Jenkitkasemwong et al. (2018) showed that Slc39a14 knockout mice (Slc39a14 -/-) had an abnormal tissue distribution of manganese, including low levels of manganese in the liver and elevated manganese levels in the bone and brain, particularly in the pons, globus pallidus, and cerebellum. The livers of the Slc39a14 -/- mice at 4 weeks of age also had low iron, zinc, and cobalt compared to wildtype mice. Manganese tracer studies in the Slc39a14 -/- mice demonstrated impaired uptake by the liver and pancreas, and reduced excretion from the intestine. The Slc39a14 -/- mice had locomotor abnormalities. A low manganese diet in the Slc39a14 -/- mice resulted in normal brain manganese levels but not in correction of motor defects. </p><p>Scheiber et al. (2019) generated liver-specific and intestinal-specific Zip14 knockout mice. The liver-specific knockout mice had reduced manganese in the liver and did not have accumulation of manganese in other tissues. The intestinal-specific Zip14 knockout mice had increased hepatic and brain manganese levels. Scheiber et al. (2019) concluded that intestinal ZIP14 is important for the control of systemic manganese homeostasis. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>10 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 HYPERMANGANESEMIA WITH DYSTONIA 2</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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SLC39A14, PHE98VAL
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<br />
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SNP: rs879253763,
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ClinVar: RCV000234926
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sisters (family A), born of consanguineous parents from Yemen, with hypermanganesemia with dystonia-2 (HMNDYT2; 617013), Tuschl et al. (2016) identified a homozygous c.292T-G transversion (c.292T-G, NM_015359.4) in exon 3 of the SLC39A14 gene, resulting in a phe98-to-val (F98V) substitution at a conserved residue. The variant, which was found by a combination of linkage analysis and candidate gene sequencing, was not found in the dbSNP (build 132), 1000 Genomes Project, or ExAC databases; the unaffected parents were heterozygous for the mutation. Transfection of the mutation into HEK293 cells showed that the mutant protein was expressed and localized normally, but resulted in decreased Mn uptake compared to wildtype, consistent with a loss of function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 HYPERMANGANESEMIA WITH DYSTONIA 2</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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SLC39A14, GLU105TER
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<br />
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SNP: rs879253764,
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ClinVar: RCV000234923
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a girl (family B), born of consanguineous Egyptian parents, with hypermanganesemia with dystonia-2 (HMNDYT2; 617013), Tuschl et al. (2016) identified a homozygous c.313G-T transversion (c.313G-T, NM_015359.4) in exon 3 of the SLC39A14 gene, resulting in a glu105-to-ter (E105X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP (build 132), 1000 Genomes Project, or ExAC databases; the unaffected parents were heterozygous for the mutation. The patient had a similarly affected sister who died at age 13 months, but genetic material was not available from the sister. </p><p>In a 24-month-old girl (14DG0924), born to consanguineous parents, with HMNDYT2, Anazi et al. (2017) identified homozygosity for the E105X mutation in the SLC39A14 gene. The mutation was identified by whole-exome sequencing. The patient, who had developmental regression, abnormal globus pallidus signal on brain MRI, and elevated blood manganese, had a similarly affected, deceased sister. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 HYPERMANGANESEMIA WITH DYSTONIA 2</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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SLC39A14, 2-BP DEL, NT477
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<br />
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SNP: rs879253765,
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ClinVar: RCV000234924
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a girl (family C), born of consanguineous Indian parents, with hypermanganesemia with dystonia-2 (HMNDYT2; 617013), Tuschl et al. (2016) identified a homozygous 2-bp deletion (c.477_478del, NM_015359.4) in exon 4A of the SLC39A14 gene, resulting in a frameshift and premature termination (Ser160CysfsTer5). The mutation, which was found by Sanger sequencing, was not found in the dbSNP (build 132), 1000 Genomes Project, or ExAC databases; the unaffected parents were heterozygous for the mutation. The mutation affected only isoform 2 of the gene, but the patient's phenotype was similar to patients with other mutations. However, this patient responded well to chelation therapy. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 HYPERMANGANESEMIA WITH DYSTONIA 2</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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SLC39A14, GLY383ARG
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<br />
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SNP: rs879253766,
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ClinVar: RCV000234927
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a boy (family D), born of consanguineous Spanish parents, with hypermanganesemia with dystonia-2 (HMNDYT2; 617013), Tuschl et al. (2016) identified a homozygous c.1147G-A transition (c.1147G-A, NM_015359.4) in the last nucleotide of exon 7 of the SLC39A14 gene, resulting in a gly383-to-arg (G383R) substitution at a conserved residue in a motif required for metal binding. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP (build 132), 1000 Genomes Project, or ExAC databases; segregation analysis within the family was not possible. The patient died at age 4 years. Transfection of the mutation into HEK293 cells showed that the mutant protein was expressed and localized normally, but resulted in decreased Mn uptake compared to wildtype, consistent with a loss of function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 HYPERMANGANESEMIA WITH DYSTONIA 2</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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SLC39A14, ASN469LYS
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<br />
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SNP: rs750281602,
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gnomAD: rs750281602,
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ClinVar: RCV000234922
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 sibs (family E), born of consanguineous Lebanese parents, with hypermanganesemia with dystonia-2 (HMNDYT2; 617013), Tuschl et al. (2016) identified a homozygous c.1407C-G transversion (c.1407C-G, NM_015359.4) in exon 9 of the SLC39A14 gene, resulting in an asn469-to-lys (N469K) substitution at a highly conserved residue. The mutation, which was found by a combination of linkage analysis and whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP (build 132), 1000 Genomes Project, or ExAC databases. Each unaffected parent was heterozygous for the mutation. Transfection of the mutation into HEK293 cells showed that the mutant protein was expressed and localized normally, but resulted in decreased Mn uptake compared to wildtype, consistent with a loss of function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 HYPEROSTOSIS CRANIALIS INTERNA (1 family)</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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SLC39A14, LEU441ARG
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<br />
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SNP: rs1554520924,
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ClinVar: RCV000626416
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a Dutch pedigree with hyperostosis cranialis interna (HCIN; 144755), originally reported by Manni et al. (1990), Hendrickx et al. (2018) identified heterozygosity for a c.1322T-G transversion (c.1322T-G, NM_001128431.2) in exon 8 of the SLC39A14 gene, resulting in a leu441-to-arg (L441R) substitution at a highly conserved residue. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated fully with disease in the family and was not found in 100 ethnically matched controls or in the dbSNP, 1000 Genomes Project, or ExAC databases. Functional analysis in HEK293 cells demonstrated that unlike wildtype ZIP14, the L441R mutant did not localize to the plasma membrane, and there were no signs of zinc uptake in cells transfected with L441R. Overexpression of the L441R mutant resulted in a significant increase in intracellular zinc accumulation, greater than that for wildtype ZIP14, indicating that labile zinc was trapped in the mutant cells. Analysis of patient skull and first cervical vertebra biopsy specimens compared to control skull biopsy showed severe involvement of the patient internal cortex, which was wider than that of the control and characterized by a great and dense amount of well-organized bone, suggesting increased bone formation or decreased bone resorption. The number of Haversian channels and number of osteocytes were significantly lower in the patient internal cortex compared to patient external cortex and cervical vertebra cortex or control internal cortex. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 HYPERMANGANESEMIA WITH DYSTONIA 2</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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SLC39A14, IVS5AS, C-G, -9
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<br />
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SNP: rs1039778197,
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ClinVar: RCV000515834, RCV004798841
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 unrelated children from the United Arab Emirates with hypermanganesemia with dystonia-2 (HMNDYT2; 617013), Rodan et al. (2018) identified a homozygous splice site mutation (c.751C-G, NM_001128431) in intron 5 (IVS5-9C-G) of the SLC39A14 gene, leading to aberrant splicing between exons 5 and 6 and an early stop codon in intron 5. The parents of 1 of the patients were confirmed to be heterozygous for the mutation. Quantitative RT-PCR analysis of SLC39A14 in fibroblasts from 1 patient confirmed aberrant splicing and showed decreased transcript levels around the region of the variant. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 HYPERMANGANESEMIA WITH DYSTONIA 2</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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SLC39A14, ARG128TRP
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<br />
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SNP: rs1291490743,
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gnomAD: rs1291490743,
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ClinVar: RCV001266397, RCV001814300
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 1-year-old patient with hypermanganesemia with dystonia-2 (HMNDYT2; 617013), Juneja et al. (2018) identified a homozygous c.382C-T transition (c.382C-T, NM_015359) in the SLC39A14 gene, resulting in an arg128-to-trp (R128W) substitution. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The mutation was not present in the ExAC database. Functional studies were not performed. The patient had a history of neurodegeneration with dystonia, elevated blood manganese levels, and abnormal MRI signal in the globus pallidus and dentate nucleus. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0009 HYPERMANGANESEMIA WITH DYSTONIA 2</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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SLC39A14, PRO379LEU
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<br />
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SNP: rs1015949817,
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ClinVar: RCV001814608
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 3-year-old Arab Libyan patient, born to consanguineous parents, with hypermanganesemia with dystonia-2 (HMNDYT2; 617013), Zeglam et al. (2019) identified homozygosity for a c.1136C-T transition (c.1336C-T, NM_001128431.2) in the SLC39A14 gene, resulting in a pro379-to-leu (P379L) substitution. The mutation was identified by whole-exome sequencing. Functional studies were not performed. The patient had hypermanganesemia, dystonia, and iron deficiency anemia. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0010 HYPERMANGANESEMIA WITH DYSTONIA 2</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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SLC39A14, GLY356SER
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<br />
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SNP: rs774860376,
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gnomAD: rs774860376,
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ClinVar: RCV000523828, RCV001814184
|
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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<p>In a 65-year-old Ashkenazi Jewish woman, born to consanguineous parents, with hypermanganesemia with dystonia-2 (HMNDYT2; 617013), Namnah et al. (2020) identified homozygosity for a c.1066G-A transition (chr8.22273712G-A, GRCh37) at a conserved site in the SLC39A14 gene, resulting in a gly356-to-ser (G356S) substitution. The mutation was found by whole-exome sequencing. The mutation was present in the gnomAD database at a frequency of 1 in 3,316 in Ashkenazi Jews and a frequency of 1 in 42,004 in Africans. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Anazi, S., Maddirevula, S., Faqeih, E., Alsedairy, H., Alzahrani, F., Shamseldin, H. E., Patel, N., Hashem, M., Ibrahim, N., Abdulwahab, F., Ewida, N., Alsaif, H. S., and 36 others.
|
|
<strong>Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.</strong>
|
|
Molec. Psychiat. 22: 615-624, 2017.
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[PubMed: 27431290]
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[Full Text: https://doi.org/10.1038/mp.2016.113]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Gao, J., Zhao, N., Knutson, M. D., Enns, C. A.
|
|
<strong>The hereditary hemochromatosis protein, HFE, inhibits iron uptake via down-regulation of Zip14 in HepG2 cells.</strong>
|
|
J. Biol. Chem. 283: 21462-21468, 2008.
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[PubMed: 18524764]
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[Full Text: https://doi.org/10.1074/jbc.M803150200]
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</p>
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<li>
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<p class="mim-text-font">
|
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Hartz, P. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 6/9/2016.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hendrickx, G., Borra, V. M., Steenackers, E., Yorgan, T. A., Hermans, C., Boudin, E., Waterval, J. J., Jansen, I. D. C., Aydemir, T. B., Kamerling, N., Behets, G. J., Plumeyer, C., and 10 others.
|
|
<strong>Conditional mouse models support the role of SLC39A14 (ZIP14) in hyperostosis cranialis interna and in bone homeostasis.</strong>
|
|
PLoS Genet. 14: e1007321, 2018. Note: Electronic Article.
|
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[PubMed: 29621230]
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[Full Text: https://doi.org/10.1371/journal.pgen.1007321]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Jenkitkasemwong, S., Akinyode, A., Paulus, E., Weiskirchen, R., Hojyo, S., Fukada, T., Giraldo, G., Schrier, J., Garcia, A., Janus, C., Giasson, B., Knutson, M. D.
|
|
<strong>SLC39A14 deficiency alters manganese homeostasis and excretion resulting in brain manganese accumulation and motor deficits in mice.</strong>
|
|
Proc. Nat. Acad. Sci. 115: E1769-E1778, 2018. Note: Erratum: Proc. Nat. Acad. Sci. 115: E4730, 2018.
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[PubMed: 29437953]
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[Full Text: https://doi.org/10.1073/pnas.1720739115]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Jenkitkasemwong, S., Wang, C.-Y., Coffey, R., Zhang, W., Chan, A., Biel, T., Kim, J.-S., Hojyo, S., Fukada, T., Knutson, M. D.
|
|
<strong>SLC39A14 is required for the development of hepatocellular iron overload in murine models of hereditary hemochromatosis.</strong>
|
|
Cell Metab. 22: 138-150, 2015.
|
|
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|
|
[PubMed: 26028554]
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[Full Text: https://doi.org/10.1016/j.cmet.2015.05.002]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Juneja, M., Shamim, U., Joshi, A., Mathur, A., Uppili, B., Sairam, S., Ambawat, S., Dixit, R., Faruq, M.
|
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<strong>A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia.</strong>
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J. Gene Med. 20: e3012, 2018.
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[PubMed: 29498153]
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[Full Text: https://doi.org/10.1002/jgm.3012]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Liuzzi, J. P., Aydemir, F., Nam, H., Knutson, M. D., Cousins, R. J.
|
|
<strong>Zip14 (Slc39a14) mediates non-transferrin-bound iron uptake into cells.</strong>
|
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Proc. Nat. Acad. Sci. 103: 13612-13617, 2006.
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[PubMed: 16950869]
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[Full Text: https://doi.org/10.1073/pnas.0606424103]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Liuzzi, J. P., Lichten, L. A., Rivera, S., Blanchard, R. K., Aydemir, T. B., Knutson, M. D., Ganz, T., Cousins, R. J.
|
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<strong>Interleukin-6 regulates the zinc transporter Zip14 in liver and contributes to the hypozincemia of the acute-phase response.</strong>
|
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Proc. Nat. Acad. Sci. 102: 6843-6848, 2005.
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[PubMed: 15863613]
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[Full Text: https://doi.org/10.1073/pnas.0502257102]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Manni, J. J., Scaf, J. J., Huygen, P. L. M., Cruysberg, J. R. M., Verhagen, W. I. M.
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<strong>Hyperostosis cranialis interna.: a new hereditary syndrome with cranial-nerve entrapment.</strong>
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New Eng. J. Med. 322: 450-454, 1990.
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[PubMed: 2300107]
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[Full Text: https://doi.org/10.1056/NEJM199002153220707]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Namnah, M., Bauer, M., Mor-Shaked, H., Bressman, S. B., Raymond, D., Ozelius, L. J., Arkadir, D.
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<strong>Benign SLC39A14 course of dystonia-parkinsonism secondary to inherited manganese accumulation. (Letter)</strong>
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Mov. Disord. Clin. Pract. 7: 569-570, 2020.
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[PubMed: 32626807]
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[Full Text: https://doi.org/10.1002/mdc3.12947]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Nomura, N., Nagase, T., Miyajima, N., Sazuka, T., Tanaka, A., Sato, S., Seki, N., Kawarabayasi, Y., Ishikawa, K., Tabata, S.
|
|
<strong>Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1.</strong>
|
|
DNA Res. 1: 223-229, 1994.
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|
[PubMed: 7584044]
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[Full Text: https://doi.org/10.1093/dnares/1.5.223]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Rodan, L. H., Hauptman, M., D'Gama, A. M., Qualls, A. E., Cao, S., Tuschl, K., Al-Jasmi, F., Hertecant, J., Hayflick, S. J., Wessling-Resnick, M., Yang, E. T., Berry, G. T., Gropman, A., Woolf, A. D., Agrawal, P. B.
|
|
<strong>Novel founder intronic variant in SLC39A14 in two families causing manganism and potential treatment strategies.</strong>
|
|
Molec. Genet. Metab. 124: 161-167, 2018.
|
|
|
|
|
|
[PubMed: 29685658]
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|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2018.04.002]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Scheiber, I. F., Wu, Y., Morgan, S. E., Zhao, N.
|
|
<strong>The intestinal metal transporter ZIP14 maintains systemic manganese homeostasis.</strong>
|
|
J. Biol. Chem. 294: 9147-9160, 2019.
|
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|
|
[PubMed: 31028174]
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|
[Full Text: https://doi.org/10.1074/jbc.RA119.008762]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Steimle, B. L., Smith, F. M., Kosman, D. J.
|
|
<strong>The solute carriers ZIP8 and ZIP14 regulate manganese accumulation in brain microvascular endothelial cells and control brain manganese levels.</strong>
|
|
J. Biol. Chem. 294: 19197-19208, 2019.
|
|
|
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|
|
[PubMed: 31699897]
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|
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[Full Text: https://doi.org/10.1074/jbc.RA119.009371]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Taylor, K. M., Morgan, H. E., Johnson, A., Nicholson, R. I.
|
|
<strong>Structure-function analysis of a novel member of the LIV-1 subfamily of zinc transporters, ZIP14.</strong>
|
|
FEBS Lett. 579: 427-432, 2005.
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|
|
[PubMed: 15642354]
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[Full Text: https://doi.org/10.1016/j.febslet.2004.12.006]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Taylor, K. M., Nicholson, R. I.
|
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<strong>The LZT proteins; the LIV-1 subfamily of zinc transporters.</strong>
|
|
Biochim. Biophys. Acta 1611: 16-30, 2003.
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|
|
[PubMed: 12659941]
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[Full Text: https://doi.org/10.1016/s0005-2736(03)00048-8]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Troche, C., Aydemir, T. B., Cousins, R. J.
|
|
<strong>Zinc transporter Slc39a14 regulates inflammatory signaling associated with hypertrophic adiposity.</strong>
|
|
Am. J. Physiol. Endocr. Metab. 310: E258-E268, 2016.
|
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|
|
[PubMed: 26646099]
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[Full Text: https://doi.org/10.1152/ajpendo.00421.2015]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others.
|
|
<strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong>
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Tuschl, K.
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London, U.K. July 22, 2016.
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<strong>Autosomal-recessive iron deficiency anemia, dystonia and hypermanganesemia caused by new variant anemia, dystonia and hypermanganesemia caused by new variant mutation of the manganese transporter gene SLC39A14.</strong>
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Zhao, N., Gao, J., Enns, C. A., Knutson, M. D.
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<strong>ZRT/IRT-like protein 14 (ZIP14) promotes the cellular assimilation of iron from transferrin.</strong>
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