3735 lines
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Entry
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- *605239 - ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A, ISOFORM 4; ATP6V0A4
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- OMIM
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<p>
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<span class="h4">*605239</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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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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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/605239">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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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-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000105929;t=ENST00000310018" 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=50617" 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=605239" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000105929;t=ENST00000310018" 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_020632,NM_130840,NM_130841" 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_020632" 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=605239" 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=05576&isoform_id=05576_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/ATP6V0A4" 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/9992884,16550606,51094797,80475971,80478359,85386053,85386056,85386547,119604298,119604299,119604300,119604301,119604302,119604303,158259351,308153516,311643775,311643777,311643779" 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/Q9HBG4" 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=50617" 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=ENSG00000105929;t=ENST00000310018" 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=ATP6V0A4" 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=ATP6V0A4" 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+50617" 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/ATP6V0A4" 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:50617" 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/50617" 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=chr7&hgg_gene=ENST00000310018.7&hgg_start=138706294&hgg_end=138798196&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:866" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/atp6v0a4" 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=605239[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 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=605239[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/ENSG00000105929" 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=ATP6V0A4" 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=ATP6V0A4" 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=ATP6V0A4" 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=ATP6V0A4&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/PA25147" 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:866" 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/FBgn0028670.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:2153480" 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/ATP6V0A4#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:2153480" 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/50617/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=50617" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00006768;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00006768 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00006914;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00006914 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00006915;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00006915 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00006916;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00006916 </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 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:50617" 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=ATP6V0A4&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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605239
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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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ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A, ISOFORM 4; ATP6V0A4
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN 1B; ATP6N1B<br />
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ATP6N2<br />
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VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2
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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=ATP6V0A4" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ATP6V0A4</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/7/727?start=-3&limit=10&highlight=727">7q34</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:138706294-138798196&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'})">7:138,706,294-138,798,196</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/7/727?start=-3&limit=10&highlight=727">
|
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7q34
|
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</a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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Distal renal tubular acidosis 3, with or without sensorineural hearing loss
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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<a href="/entry/602722"> 602722 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/605239" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/605239" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>Vacuolar-type proton pumps help maintain acid-base homeostasis either within intracellular compartments or at specialized plasma membranes. The pumps are made up of 13 subunits, which form 2 functional domains: a V1 domain where ATP hydrolysis provides energy for proton movement, and a membrane-anchored V0 domain where proton translocation takes place. ATP6V0A4 is 1 of the subunits that form the V0 domain (<a href="#2" class="mim-tip-reference" title="Golder, Z. J., Karet Frankl, F. E. <strong>Extra-renal locations of the a4 subunit of H(+)ATPase.</strong> BMC Cell Biol. 17: 27, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27368196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27368196</a>] [<a href="https://doi.org/10.1186/s12860-016-0106-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27368196">Golder and Karet Frankl, 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27368196" 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 candidate gene sequencing with the critical interval on chromosome 7q33-q34 that had been established for a form of autosomal recessive distal renal tubular acidosis (DRTA3; <a href="/entry/602722">602722</a>) by <a href="#3" class="mim-tip-reference" title="Karet, F. E., Finberg, K. E., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Medina, J. F., Lifton, R. P. <strong>Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34.</strong> Am. J. Hum. Genet. 65: 1656-1665, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577919</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10577919[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/10.1086/302679" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10577919">Karet et al. (1999)</a>, <a href="#6" class="mim-tip-reference" title="Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E. <strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong> Nature Genet. 26: 71-75, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973252</a>] [<a href="https://doi.org/10.1038/79208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973252">Smith et al. (2000)</a> identified the ATP6N1B gene. ATP6N1B encodes a deduced 840-amino acid, 116-kD kidney-specific isoform of the H(+)-ATPase vacuolar proton pump. The ATP6N1B protein shares 61% and 47% amino acid identity, respectively, with the other human 116-kD subunits ATP6N1A (ATP6V0A1; <a href="/entry/192130">192130</a>) and OC116 (TCIRG1; <a href="/entry/604592">604592</a>) and approximately 60% identity with the rat, bovine, and mouse 116-kD subunits. Like its homologs, ATP6N1B is predicted to have a 2-domain structure. The N-terminal half is hydrophilic and likely intracellular, whereas the C-terminal half is composed of 6 putative transmembrane domains with a short intracellular C terminus. Northern blot analysis demonstrated a 3.3-kb ATP6N1B transcript solely in adult and fetal kidney. Immunofluorescence studies in human kidney cortex showed that ATP6N1B localized almost exclusively to the apical surface of alpha-intercalated cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10577919+10973252" 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="#7" class="mim-tip-reference" title="Stover, E. H., Borthwick, K. J., Bavalia, C., Eady, N., Fritz, D. M., Rungroj, N., Giersch, A. B. S., Morton, C. C., Axon, P. R., Akil, I., Al-Sabban, E. A., Baguley, D. M., and 20 others. <strong>Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.</strong> J. Med. Genet. 39: 796-803, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414817</a>] [<a href="https://doi.org/10.1136/jmg.39.11.796" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414817">Stover et al. (2002)</a> found ATP6V0A4 expression within the cochlea of both fetal and adult tissue specimens. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414817" 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 LacZ reporter analysis, <a href="#2" class="mim-tip-reference" title="Golder, Z. J., Karet Frankl, F. E. <strong>Extra-renal locations of the a4 subunit of H(+)ATPase.</strong> BMC Cell Biol. 17: 27, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27368196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27368196</a>] [<a href="https://doi.org/10.1186/s12860-016-0106-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27368196">Golder and Karet Frankl (2016)</a> demonstrated that Atp6v0a4 was expressed with Atp6v1c2 (<a href="/entry/618070">618070</a>) and Atp6v0d2 (<a href="/entry/618072">618072</a>) in mouse olfactory epithelium and embryonic visceral yolk sac. 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<p>The ATP6N1B gene contains 23 exons and encodes 3 alternatively spliced isoforms (<a href="#6" class="mim-tip-reference" title="Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E. <strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong> Nature Genet. 26: 71-75, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973252</a>] [<a href="https://doi.org/10.1038/79208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973252">Smith et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E. <strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong> Nature Genet. 26: 71-75, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973252</a>] [<a href="https://doi.org/10.1038/79208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973252">Smith et al. (2000)</a> identified the ATP6N1B gene on chromosome 7q33-q34. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 8 of 9 kindreds with renal tubular acidosis with normal audiometry linked to chromosome 7q33-q34 (DRTA3; <a href="/entry/602722">602722</a>), <a href="#6" class="mim-tip-reference" title="Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E. <strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong> Nature Genet. 26: 71-75, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973252</a>] [<a href="https://doi.org/10.1038/79208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973252">Smith et al. (2000)</a> identified homozygous mutations in the ATP6N1B gene (<a href="#0001">605239.0001</a>-<a href="#0008">605239.0008</a>). These included nonsense, deletion, and splice site changes, all of which were predicted to truncate the protein. The findings illustrated the essential role of ATP6N1B in normal vectorial acid transport into the urine by the kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973252" 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 12 kindreds with autosomal recessive distal renal tubular acidosis and 11 sporadic cases of dRTA, <a href="#7" class="mim-tip-reference" title="Stover, E. H., Borthwick, K. J., Bavalia, C., Eady, N., Fritz, D. M., Rungroj, N., Giersch, A. B. S., Morton, C. C., Axon, P. R., Akil, I., Al-Sabban, E. A., Baguley, D. M., and 20 others. <strong>Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.</strong> J. Med. Genet. 39: 796-803, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414817</a>] [<a href="https://doi.org/10.1136/jmg.39.11.796" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414817">Stover et al. (2002)</a> identified 19 ATP6V0A4 mutations (see, e.g., <a href="#0009">605239.0009</a>-<a href="#0010">605239.0010</a>) in 23 patients. Several of these patients, including 1 with a previously identified splice site mutation (<a href="#0003">605239.0003</a>), were found to have developed later onset of hearing loss than occurs in dRTA families with progressive sensorineural hearing loss (<a href="/entry/267000">267000</a>) and mutations in the ATP6V1B1 gene (<a href="/entry/192132">192132</a>). Review of a previously studied ATP6V0A4 cohort revealed 1 patient who had developed mild sensorineural hearing loss at the age of 22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414817" 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="Vargas-Poussou, R., Houillier, P., Le Pottier, N., Stompf, L., Loirat, C., Baudouin, V., Macher, M.-A., Dechaux, M., Ulinski, T., Nobili, F., Eckart, P., Novo, R., and 15 others. <strong>Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.</strong> J. Am. Soc. Nephrol. 17: 1437-1443, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16611712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16611712</a>] [<a href="https://doi.org/10.1681/ASN.2005121305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16611712">Vargas-Poussou et al. (2006)</a> found that 9 of 23 patients with DRTA3 had sensorineural hearing loss; in 2 patients the age at onset was unknown, but in the other 7, hearing loss was detected between ages 2 months and 10 years (see, e.g., <a href="#0011">605239.0011</a>). Additionally, 12 other patients were younger than age 10 years and could yet develop hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16611712" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Norgett, E. E., Golder, Z. J., Lorente-Canovas, B., Ingham, N., Steel, K. P., Karet Frankl, F. E. <strong>Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype.</strong> Proc. Nat. Acad. Sci. 109: 13775-13780, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22872862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22872862</a>] [<a href="https://doi.org/10.1073/pnas.1204257109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22872862">Norgett et al. (2012)</a> found that Atp6v0a4 -/- mice were born at the expected mendelian ratio and were fertile. However, they were smaller at 2 to 3 weeks of age compared with wildtype, and most demonstrated a likely inner ear defect and did not survive weaning. Those Atp6v0a4 -/- mice that survived weaning typically died suddenly and did not live beyond 6 months. Histologic analysis showed kidney defects in the surviving mice. Unweaned Atp6v0a4 -/- mice were acidotic but retained normal excretory renal function, even though they were dehydrated. Atp6v0a4 -/- mice lacked auditory brainstem responses (ABR), indicating severe hearing impairment. Most Atp6v0a4 -/- mice survived if treated with alkalinized water. Histologic analysis revealed tubular vacuolation in Atp6v0a4 -/- mice, but not in wildtype or Atp6v0a4 +/- mice or in Atp6v0a4 -/- mice treated with alkalinized water. Olfactory behavioral testing suggested hyposmia in Atp6v0a4 -/- mice. <a href="#5" class="mim-tip-reference" title="Norgett, E. E., Golder, Z. J., Lorente-Canovas, B., Ingham, N., Steel, K. P., Karet Frankl, F. E. <strong>Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype.</strong> Proc. Nat. Acad. Sci. 109: 13775-13780, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22872862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22872862</a>] [<a href="https://doi.org/10.1073/pnas.1204257109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22872862">Norgett et al. (2012)</a> concluded that the phenotype of Atp6v0a4 -/- mice resembles human DRTA3 to a greater extent than that of Atp6v1b1 -/- mice, possibly due to the use of a pure C57BL6/J background for Atp6v0a4 -/- mice compared with a mixed background for Atp6v1b1 -/- mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22872862" 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="Lorente-Canovas, B., Ingham, N., Norgett, E. E., Golder, Z. J., Karet Frankl, F. E., Steel, K. P. <strong>Mice deficient in H(+)-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.</strong> Dis. Model Mech. 6: 434-442, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23065636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23065636</a>] [<a href="https://doi.org/10.1242/dmm.010645" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23065636">Lorente-Canovas et al. (2013)</a> showed that ABRs had significantly elevated thresholds in Atp6v0a4 -/- mice, whereas Atp6v0a4 +/- mice were normal. Inner ears in Atp6v0a4 -/- mice had a marked expansion of cochlear and endolymphatic ducts. Atp6v0a4 -/- mice also lacked endocochlear potential, suggesting a functional defect of the stria vascularis on the lateral wall of the cochlear duct. However, the main potassium channels involved in generation of the potential, Kcnj10 (<a href="/entry/602208">602208</a>) and Kcnq1 (<a href="/entry/607542">607542</a>), were strongly expressed in Atp6v0a4 -/- mice. <a href="#4" class="mim-tip-reference" title="Lorente-Canovas, B., Ingham, N., Norgett, E. E., Golder, Z. J., Karet Frankl, F. E., Steel, K. P. <strong>Mice deficient in H(+)-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.</strong> Dis. Model Mech. 6: 434-442, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23065636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23065636</a>] [<a href="https://doi.org/10.1242/dmm.010645" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23065636">Lorente-Canovas et al. (2013)</a> concluded that ATP6V0A4 has an important role in hearing function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23065636" 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 study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), <a href="#1" class="mim-tip-reference" title="Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. <strong>High-throughput discovery of novel developmental phenotypes.</strong> Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>] [<a href="https://doi.org/10.1038/nature19356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27626380">Dickinson et al. (2016)</a> found that knockout of the mouse homolog of human ATP6V0A4 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>11 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605239[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITHOUT SENSORINEURAL HEARING LOSS</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"><span class="text-primary">●</span> rs121908367 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908367;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/rs121908367?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=rs121908367" 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=rs121908367" 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 6.5-year-old Turkish child in whom the diagnosis of distal renal tubular acidosis (DRTA3; <a href="/entry/602722">602722</a>) had been made at the age of 3 weeks, <a href="#6" class="mim-tip-reference" title="Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E. <strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong> Nature Genet. 26: 71-75, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973252</a>] [<a href="https://doi.org/10.1038/79208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973252">Smith et al. (2000)</a> found a homozygous glu753-to-ter (Q753X) nonsense mutation in the ATP6N1B gene. Audiometry at the age of 4.5 years was normal. A C-to-T transition introduced the premature termination codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 10-year-old child with distal renal tubular acidosis with normal hearing (DRTA3; <a href="/entry/602722">602722</a>), <a href="#6" class="mim-tip-reference" title="Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E. <strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong> Nature Genet. 26: 71-75, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973252</a>] [<a href="https://doi.org/10.1038/79208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973252">Smith et al. (2000)</a> identified a gly820-to-arg (G820R) missense mutation in the ATP6N1B gene. Renal tubular acidosis had been diagnosed at the age of 1 year. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973252" 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 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS</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"><span class="text-primary">●</span> rs587776615 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776615;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/rs587776615?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=rs587776615" 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=rs587776615" 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 22-year-old Pakistani female with distal renal tubular acidosis with normal hearing (DRTA3; <a href="/entry/602722">602722</a>), <a href="#6" class="mim-tip-reference" title="Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E. <strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong> Nature Genet. 26: 71-75, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973252</a>] [<a href="https://doi.org/10.1038/79208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973252">Smith et al. (2000)</a> identified a mutation in the consensus donor splice site of intron 17 of the ATP6N1B gene. Renal tubular acidosis had been diagnosed at the age of 1 week. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973252" 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 18-year-old Pakistani woman (kindred 25) with dRTA and late-onset sensorineural hearing loss, <a href="#7" class="mim-tip-reference" title="Stover, E. H., Borthwick, K. J., Bavalia, C., Eady, N., Fritz, D. M., Rungroj, N., Giersch, A. B. S., Morton, C. C., Axon, P. R., Akil, I., Al-Sabban, E. A., Baguley, D. M., and 20 others. <strong>Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.</strong> J. Med. Genet. 39: 796-803, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414817</a>] [<a href="https://doi.org/10.1136/jmg.39.11.796" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414817">Stover et al. (2002)</a> identified the IVS17+1G-A mutation in the ATP6V0A4 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414817" 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> rs587776616 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776616;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/rs587776616?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=rs587776616" 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=rs587776616" 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=RCV001807627" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001807627" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001807627</a>
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<p>In a 14-year-old Turkish female with distal renal acidosis (DRTA3; <a href="/entry/602722">602722</a>), <a href="#6" class="mim-tip-reference" title="Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E. <strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong> Nature Genet. 26: 71-75, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973252</a>] [<a href="https://doi.org/10.1038/79208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973252">Smith et al. (2000)</a> found a 1-bp deletion in codon 35 (valine) of the ATP6N1B gene causing a frameshift, altering the following protein sequence and ending in premature termination at codon 40. Renal acidosis was diagnosed at the age of 3 months; audiometry was normal at 12 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973252" 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 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITHOUT SENSORINEURAL HEARING LOSS</strong>
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ATP6V0A4, MET580THR
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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> rs3807153 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3807153;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/rs3807153?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=rs3807153" 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=rs3807153" 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=RCV000005461 OR RCV000244134 OR RCV001512758 OR RCV001807628" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005461, RCV000244134, RCV001512758, RCV001807628" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005461...</a>
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<p>In a 4-year-old Turkish boy with distal renal tubular acidosis and normal hearing (DRTA3; <a href="/entry/602722">602722</a>), <a href="#6" class="mim-tip-reference" title="Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E. <strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong> Nature Genet. 26: 71-75, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973252</a>] [<a href="https://doi.org/10.1038/79208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973252">Smith et al. (2000)</a> found an met580-to-thr missense mutation in the ATP6N1B gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973252" 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="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITHOUT SENSORINEURAL HEARING LOSS</strong>
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</span>
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</h4>
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ATP6V0A4, IVS6, G-A, -1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776617 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776617;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=rs587776617" 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=rs587776617" 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=RCV001807629" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001807629" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001807629</a>
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<span class="mim-text-font">
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<p>In an 11-year-old Turkish girl with distal renal tubular acidosis and normal hearing (DRTA3; <a href="/entry/602722">602722</a>), <a href="#6" class="mim-tip-reference" title="Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E. <strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong> Nature Genet. 26: 71-75, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973252</a>] [<a href="https://doi.org/10.1038/79208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973252">Smith et al. (2000)</a> identified a change in the canonical acceptor splice sequence in intron 6 of the ATP6N1B gene from AG to AA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973252" 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="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITHOUT SENSORINEURAL HEARING LOSS</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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<div style="float: left;">
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ATP6V0A4, 1-BP DEL, GLN276
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2117291505 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2117291505;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=rs2117291505" 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=rs2117291505" 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=RCV001807630" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001807630" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001807630</a>
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</span>
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<span class="mim-text-font">
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<p>In a 13-year-old Saudi Arabian male with distal renal tubular acidosis and presumably normal hearing (DRTA3; <a href="/entry/602722">602722</a>), <a href="#6" class="mim-tip-reference" title="Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E. <strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong> Nature Genet. 26: 71-75, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973252</a>] [<a href="https://doi.org/10.1038/79208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973252">Smith et al. (2000)</a> identified deletion of 1 bp in codon 276 of the ATP6N1B gene (glutamine) resulting in frameshift and premature termination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973252" 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="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITHOUT SENSORINEURAL HEARING LOSS</strong>
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</span>
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</h4>
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</div>
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ATP6V0A4, PRO524LEU
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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> rs121908368 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908368;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/rs121908368?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=rs121908368" 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=rs121908368" 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=RCV000005464 OR RCV001807631 OR RCV002512809" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005464, RCV001807631, RCV002512809" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005464...</a>
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</span>
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<span class="mim-text-font">
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<p>In a 3-year-old Turkish male with distal renal tubular acidosis and normal hearing (DRTA3; <a href="/entry/602722">602722</a>), <a href="#6" class="mim-tip-reference" title="Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E. <strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong> Nature Genet. 26: 71-75, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973252</a>] [<a href="https://doi.org/10.1038/79208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973252">Smith et al. (2000)</a> identified a pro524-to-leu missense mutation in the ATP6N1B gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0009 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH SENSORINEURAL HEARING LOSS</strong>
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</span>
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ATP6V0A4, TYR502TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908369 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908369;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=rs121908369" 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=rs121908369" 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=RCV001807632" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001807632" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001807632</a>
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<p>In a 34-year-old Spanish man (kindred 72) with distal renal tubular acidosis (DRTA3; <a href="/entry/602722">602722</a>), <a href="#7" class="mim-tip-reference" title="Stover, E. H., Borthwick, K. J., Bavalia, C., Eady, N., Fritz, D. M., Rungroj, N., Giersch, A. B. S., Morton, C. C., Axon, P. R., Akil, I., Al-Sabban, E. A., Baguley, D. M., and 20 others. <strong>Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.</strong> J. Med. Genet. 39: 796-803, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414817</a>] [<a href="https://doi.org/10.1136/jmg.39.11.796" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414817">Stover et al. (2002)</a> identified a c.1506T-A transversion in the ATP6V0A4 gene, resulting in a tyr502-to-stop (Y502X) mutation. This mutation was found to be frequent in patients from northern Spain, suggesting founder effect. The patient was found to have sensorineural hearing loss for the first time at the age of 33 years. He had had previous audiograms within normal limits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414817" 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>.0010 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH SENSORINEURAL HEARING LOSS</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"><span class="text-primary">●</span> rs28939081 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28939081;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/rs28939081?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=rs28939081" 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=rs28939081" 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=RCV000005466 OR RCV001557688 OR RCV001807633" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005466, RCV001557688, RCV001807633" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005466...</a>
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<p>In a 26-year-old Spanish man (kindred 70) with distal renal tubular acidosis (DRTA3; <a href="/entry/602722">602722</a>), <a href="#7" class="mim-tip-reference" title="Stover, E. H., Borthwick, K. J., Bavalia, C., Eady, N., Fritz, D. M., Rungroj, N., Giersch, A. B. S., Morton, C. C., Axon, P. R., Akil, I., Al-Sabban, E. A., Baguley, D. M., and 20 others. <strong>Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.</strong> J. Med. Genet. 39: 796-803, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414817</a>] [<a href="https://doi.org/10.1136/jmg.39.11.796" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414817">Stover et al. (2002)</a> identified a c.2420G-A transition in the ATP6V0A4 gene, resulting in an arg807-to-gln (R807Q) mutation. The diagnosis of renal tubular acidosis was made at the age of 2 months. The patient had severe hearing loss requiring the use of hearing aids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414817" 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>.0011 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH SENSORINEURAL HEARING LOSS</strong>
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ATP6V0A4, 1-BP DEL, 2137G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1804439932 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1804439932;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=rs1804439932" 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=rs1804439932" 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=RCV001807652 OR RCV003558764" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001807652, RCV003558764" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001807652...</a>
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<p>In a 15-year-old Algerian girl with distal renal tubular acidosis and sensorineural hearing loss (DRTA2; <a href="/entry/602722">602722</a>), <a href="#8" class="mim-tip-reference" title="Vargas-Poussou, R., Houillier, P., Le Pottier, N., Stompf, L., Loirat, C., Baudouin, V., Macher, M.-A., Dechaux, M., Ulinski, T., Nobili, F., Eckart, P., Novo, R., and 15 others. <strong>Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.</strong> J. Am. Soc. Nephrol. 17: 1437-1443, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16611712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16611712</a>] [<a href="https://doi.org/10.1681/ASN.2005121305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16611712">Vargas-Poussou et al. (2006)</a> identified a homozygous 1-bp deletion (c.2137delG, NM_130841) in the ATP6V0A4 gene, resulting in a frameshift and a premature termination codon (Glu713fsTer765). She was diagnosed with renal tubular acidosis at age 1 week and with hearing loss at age 6 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16611712" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Dickinson2016" class="mim-anchor"></a>
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
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Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature19356" target="_blank">Full Text</a>]
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Golder, Z. J., Karet Frankl, F. E.
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<strong>Extra-renal locations of the a4 subunit of H(+)ATPase.</strong>
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BMC Cell Biol. 17: 27, 2016. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27368196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27368196</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27368196" 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/10.1186/s12860-016-0106-8" target="_blank">Full Text</a>]
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Karet, F. E., Finberg, K. E., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Medina, J. F., Lifton, R. P.
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<strong>Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34.</strong>
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Am. J. Hum. Genet. 65: 1656-1665, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577919</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10577919[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=10577919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302679" target="_blank">Full Text</a>]
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Lorente-Canovas, B., Ingham, N., Norgett, E. E., Golder, Z. J., Karet Frankl, F. E., Steel, K. P.
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<strong>Mice deficient in H(+)-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.</strong>
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Dis. Model Mech. 6: 434-442, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23065636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23065636</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23065636" 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/10.1242/dmm.010645" target="_blank">Full Text</a>]
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Norgett, E. E., Golder, Z. J., Lorente-Canovas, B., Ingham, N., Steel, K. P., Karet Frankl, F. E.
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<strong>Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype.</strong>
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Proc. Nat. Acad. Sci. 109: 13775-13780, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22872862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22872862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22872862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.1204257109" target="_blank">Full Text</a>]
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<a id="Smith2000" class="mim-anchor"></a>
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Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E.
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<strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong>
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Nature Genet. 26: 71-75, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973252</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/79208" target="_blank">Full Text</a>]
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Stover, E. H., Borthwick, K. J., Bavalia, C., Eady, N., Fritz, D. M., Rungroj, N., Giersch, A. B. S., Morton, C. C., Axon, P. R., Akil, I., Al-Sabban, E. A., Baguley, D. M., and 20 others.
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<strong>Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.</strong>
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J. Med. Genet. 39: 796-803, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414817</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414817" 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/10.1136/jmg.39.11.796" target="_blank">Full Text</a>]
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Vargas-Poussou, R., Houillier, P., Le Pottier, N., Stompf, L., Loirat, C., Baudouin, V., Macher, M.-A., Dechaux, M., Ulinski, T., Nobili, F., Eckart, P., Novo, R., and 15 others.
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<strong>Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.</strong>
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J. Am. Soc. Nephrol. 17: 1437-1443, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16611712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16611712</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16611712" 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/10.1681/ASN.2005121305" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 08/28/2020
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<span class="mim-text-font">
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Paul J. Converse - updated : 09/06/2017<br>Ada Hamosh - updated : 02/16/2017<br>Victor A. McKusick - updated : 5/4/2004<br>Marla J. F. O'Neill - updated : 2/5/2004
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 8/29/2000
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carol : 08/28/2020
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<span class="mim-text-font">
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carol : 08/27/2020<br>alopez : 07/27/2018<br>carol : 02/01/2018<br>carol : 09/08/2017<br>mgross : 09/07/2017<br>mgross : 09/06/2017<br>alopez : 02/16/2017<br>joanna : 07/24/2015<br>carol : 5/20/2014<br>alopez : 5/15/2014<br>carol : 5/13/2014<br>wwang : 1/7/2008<br>carol : 1/4/2005<br>tkritzer : 5/25/2004<br>terry : 5/4/2004<br>carol : 2/5/2004<br>carol : 2/5/2004<br>carol : 2/2/2004<br>alopez : 7/30/2002<br>alopez : 8/29/2000
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<span class="mim-font">
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<strong>*</strong> 605239
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<h3>
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<span class="mim-font">
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ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A, ISOFORM 4; ATP6V0A4
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN 1B; ATP6N1B<br />
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ATP6N2<br />
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VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2
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</span>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ATP6V0A4</em></strong>
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</span>
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<strong>
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<em>
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Cytogenetic location: 7q34
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:138,706,294-138,798,196 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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7q34
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<td>
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<span class="mim-font">
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Distal renal tubular acidosis 3, with or without sensorineural hearing loss
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</td>
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<td>
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<span class="mim-font">
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602722
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Vacuolar-type proton pumps help maintain acid-base homeostasis either within intracellular compartments or at specialized plasma membranes. The pumps are made up of 13 subunits, which form 2 functional domains: a V1 domain where ATP hydrolysis provides energy for proton movement, and a membrane-anchored V0 domain where proton translocation takes place. ATP6V0A4 is 1 of the subunits that form the V0 domain (Golder and Karet Frankl, 2016). </p>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<p>By candidate gene sequencing with the critical interval on chromosome 7q33-q34 that had been established for a form of autosomal recessive distal renal tubular acidosis (DRTA3; 602722) by Karet et al. (1999), Smith et al. (2000) identified the ATP6N1B gene. ATP6N1B encodes a deduced 840-amino acid, 116-kD kidney-specific isoform of the H(+)-ATPase vacuolar proton pump. The ATP6N1B protein shares 61% and 47% amino acid identity, respectively, with the other human 116-kD subunits ATP6N1A (ATP6V0A1; 192130) and OC116 (TCIRG1; 604592) and approximately 60% identity with the rat, bovine, and mouse 116-kD subunits. Like its homologs, ATP6N1B is predicted to have a 2-domain structure. The N-terminal half is hydrophilic and likely intracellular, whereas the C-terminal half is composed of 6 putative transmembrane domains with a short intracellular C terminus. Northern blot analysis demonstrated a 3.3-kb ATP6N1B transcript solely in adult and fetal kidney. Immunofluorescence studies in human kidney cortex showed that ATP6N1B localized almost exclusively to the apical surface of alpha-intercalated cells. </p><p>Stover et al. (2002) found ATP6V0A4 expression within the cochlea of both fetal and adult tissue specimens. </p><p>Using LacZ reporter analysis, Golder and Karet Frankl (2016) demonstrated that Atp6v0a4 was expressed with Atp6v1c2 (618070) and Atp6v0d2 (618072) in mouse olfactory epithelium and embryonic visceral yolk sac. Atp6v0a4 was also expressed in ampullary gland, prostatic alveoli, and uterus. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The ATP6N1B gene contains 23 exons and encodes 3 alternatively spliced isoforms (Smith et al., 2000). </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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<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>Smith et al. (2000) identified the ATP6N1B gene on chromosome 7q33-q34. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of 8 of 9 kindreds with renal tubular acidosis with normal audiometry linked to chromosome 7q33-q34 (DRTA3; 602722), Smith et al. (2000) identified homozygous mutations in the ATP6N1B gene (605239.0001-605239.0008). These included nonsense, deletion, and splice site changes, all of which were predicted to truncate the protein. The findings illustrated the essential role of ATP6N1B in normal vectorial acid transport into the urine by the kidney. </p><p>In 12 kindreds with autosomal recessive distal renal tubular acidosis and 11 sporadic cases of dRTA, Stover et al. (2002) identified 19 ATP6V0A4 mutations (see, e.g., 605239.0009-605239.0010) in 23 patients. Several of these patients, including 1 with a previously identified splice site mutation (605239.0003), were found to have developed later onset of hearing loss than occurs in dRTA families with progressive sensorineural hearing loss (267000) and mutations in the ATP6V1B1 gene (192132). Review of a previously studied ATP6V0A4 cohort revealed 1 patient who had developed mild sensorineural hearing loss at the age of 22. </p><p>Vargas-Poussou et al. (2006) found that 9 of 23 patients with DRTA3 had sensorineural hearing loss; in 2 patients the age at onset was unknown, but in the other 7, hearing loss was detected between ages 2 months and 10 years (see, e.g., 605239.0011). Additionally, 12 other patients were younger than age 10 years and could yet develop hearing loss. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Norgett et al. (2012) found that Atp6v0a4 -/- mice were born at the expected mendelian ratio and were fertile. However, they were smaller at 2 to 3 weeks of age compared with wildtype, and most demonstrated a likely inner ear defect and did not survive weaning. Those Atp6v0a4 -/- mice that survived weaning typically died suddenly and did not live beyond 6 months. Histologic analysis showed kidney defects in the surviving mice. Unweaned Atp6v0a4 -/- mice were acidotic but retained normal excretory renal function, even though they were dehydrated. Atp6v0a4 -/- mice lacked auditory brainstem responses (ABR), indicating severe hearing impairment. Most Atp6v0a4 -/- mice survived if treated with alkalinized water. Histologic analysis revealed tubular vacuolation in Atp6v0a4 -/- mice, but not in wildtype or Atp6v0a4 +/- mice or in Atp6v0a4 -/- mice treated with alkalinized water. Olfactory behavioral testing suggested hyposmia in Atp6v0a4 -/- mice. Norgett et al. (2012) concluded that the phenotype of Atp6v0a4 -/- mice resembles human DRTA3 to a greater extent than that of Atp6v1b1 -/- mice, possibly due to the use of a pure C57BL6/J background for Atp6v0a4 -/- mice compared with a mixed background for Atp6v1b1 -/- mice. </p><p>Lorente-Canovas et al. (2013) showed that ABRs had significantly elevated thresholds in Atp6v0a4 -/- mice, whereas Atp6v0a4 +/- mice were normal. Inner ears in Atp6v0a4 -/- mice had a marked expansion of cochlear and endolymphatic ducts. Atp6v0a4 -/- mice also lacked endocochlear potential, suggesting a functional defect of the stria vascularis on the lateral wall of the cochlear duct. However, the main potassium channels involved in generation of the potential, Kcnj10 (602208) and Kcnq1 (607542), were strongly expressed in Atp6v0a4 -/- mice. Lorente-Canovas et al. (2013) concluded that ATP6V0A4 has an important role in hearing function. </p><p>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human ATP6V0A4 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). </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>11 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 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITHOUT SENSORINEURAL HEARING LOSS</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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ATP6V0A4, GLU753TER
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<br />
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SNP: rs121908367,
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gnomAD: rs121908367,
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ClinVar: RCV000005457, RCV001807624, RCV003223607
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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 6.5-year-old Turkish child in whom the diagnosis of distal renal tubular acidosis (DRTA3; 602722) had been made at the age of 3 weeks, Smith et al. (2000) found a homozygous glu753-to-ter (Q753X) nonsense mutation in the ATP6N1B gene. Audiometry at the age of 4.5 years was normal. A C-to-T transition introduced the premature termination codon. </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 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITHOUT SENSORINEURAL HEARING LOSS</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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ATP6V0A4, GLY820ARG
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<br />
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SNP: rs267606671,
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gnomAD: rs267606671,
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ClinVar: RCV001807625, RCV001851665
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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 10-year-old child with distal renal tubular acidosis with normal hearing (DRTA3; 602722), Smith et al. (2000) identified a gly820-to-arg (G820R) missense mutation in the ATP6N1B gene. Renal tubular acidosis had been diagnosed at the age of 1 year. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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ATP6V0A4, IVS17, G-A, +1
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<br />
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|
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SNP: rs587776615,
|
|
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|
|
|
gnomAD: rs587776615,
|
|
|
|
|
|
ClinVar: RCV001807626
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 22-year-old Pakistani female with distal renal tubular acidosis with normal hearing (DRTA3; 602722), Smith et al. (2000) identified a mutation in the consensus donor splice site of intron 17 of the ATP6N1B gene. Renal tubular acidosis had been diagnosed at the age of 1 week. </p><p>In an 18-year-old Pakistani woman (kindred 25) with dRTA and late-onset sensorineural hearing loss, Stover et al. (2002) identified the IVS17+1G-A mutation in the ATP6V0A4 gene. </p>
|
|
</span>
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|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITHOUT SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
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<span class="mim-text-font">
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ATP6V0A4, 1-BP DEL, VAL35
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<br />
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SNP: rs587776616,
|
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|
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gnomAD: rs587776616,
|
|
|
|
|
|
ClinVar: RCV001807627
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 14-year-old Turkish female with distal renal acidosis (DRTA3; 602722), Smith et al. (2000) found a 1-bp deletion in codon 35 (valine) of the ATP6N1B gene causing a frameshift, altering the following protein sequence and ending in premature termination at codon 40. Renal acidosis was diagnosed at the age of 3 months; audiometry was normal at 12 years. </p>
|
|
</span>
|
|
</div>
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|
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|
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
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|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITHOUT SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ATP6V0A4, MET580THR
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs3807153,
|
|
|
|
|
|
gnomAD: rs3807153,
|
|
|
|
|
|
ClinVar: RCV000005461, RCV000244134, RCV001512758, RCV001807628
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4-year-old Turkish boy with distal renal tubular acidosis and normal hearing (DRTA3; 602722), Smith et al. (2000) found an met580-to-thr missense mutation in the ATP6N1B gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITHOUT SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ATP6V0A4, IVS6, G-A, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776617,
|
|
|
|
|
|
|
|
ClinVar: RCV001807629
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 11-year-old Turkish girl with distal renal tubular acidosis and normal hearing (DRTA3; 602722), Smith et al. (2000) identified a change in the canonical acceptor splice sequence in intron 6 of the ATP6N1B gene from AG to AA. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITHOUT SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ATP6V0A4, 1-BP DEL, GLN276
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2117291505,
|
|
|
|
|
|
|
|
ClinVar: RCV001807630
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 13-year-old Saudi Arabian male with distal renal tubular acidosis and presumably normal hearing (DRTA3; 602722), Smith et al. (2000) identified deletion of 1 bp in codon 276 of the ATP6N1B gene (glutamine) resulting in frameshift and premature termination. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITHOUT SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ATP6V0A4, PRO524LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908368,
|
|
|
|
|
|
gnomAD: rs121908368,
|
|
|
|
|
|
ClinVar: RCV000005464, RCV001807631, RCV002512809
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3-year-old Turkish male with distal renal tubular acidosis and normal hearing (DRTA3; 602722), Smith et al. (2000) identified a pro524-to-leu missense mutation in the ATP6N1B gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ATP6V0A4, TYR502TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908369,
|
|
|
|
|
|
|
|
ClinVar: RCV001807632
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 34-year-old Spanish man (kindred 72) with distal renal tubular acidosis (DRTA3; 602722), Stover et al. (2002) identified a c.1506T-A transversion in the ATP6V0A4 gene, resulting in a tyr502-to-stop (Y502X) mutation. This mutation was found to be frequent in patients from northern Spain, suggesting founder effect. The patient was found to have sensorineural hearing loss for the first time at the age of 33 years. He had had previous audiograms within normal limits. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ATP6V0A4, ARG807GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28939081,
|
|
|
|
|
|
gnomAD: rs28939081,
|
|
|
|
|
|
ClinVar: RCV000005466, RCV001557688, RCV001807633
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 26-year-old Spanish man (kindred 70) with distal renal tubular acidosis (DRTA3; 602722), Stover et al. (2002) identified a c.2420G-A transition in the ATP6V0A4 gene, resulting in an arg807-to-gln (R807Q) mutation. The diagnosis of renal tubular acidosis was made at the age of 2 months. The patient had severe hearing loss requiring the use of hearing aids. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ATP6V0A4, 1-BP DEL, 2137G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1804439932,
|
|
|
|
|
|
|
|
ClinVar: RCV001807652, RCV003558764
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 15-year-old Algerian girl with distal renal tubular acidosis and sensorineural hearing loss (DRTA2; 602722), Vargas-Poussou et al. (2006) identified a homozygous 1-bp deletion (c.2137delG, NM_130841) in the ATP6V0A4 gene, resulting in a frameshift and a premature termination codon (Glu713fsTer765). She was diagnosed with renal tubular acidosis at age 1 week and with hearing loss at age 6 years. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
|
|
<strong>High-throughput discovery of novel developmental phenotypes.</strong>
|
|
Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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|
|
|
|
|
[PubMed: 27626380]
|
|
|
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|
|
[Full Text: https://doi.org/10.1038/nature19356]
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Golder, Z. J., Karet Frankl, F. E.
|
|
<strong>Extra-renal locations of the a4 subunit of H(+)ATPase.</strong>
|
|
BMC Cell Biol. 17: 27, 2016. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 27368196]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1186/s12860-016-0106-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Karet, F. E., Finberg, K. E., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Medina, J. F., Lifton, R. P.
|
|
<strong>Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34.</strong>
|
|
Am. J. Hum. Genet. 65: 1656-1665, 1999.
|
|
|
|
|
|
[PubMed: 10577919]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/302679]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lorente-Canovas, B., Ingham, N., Norgett, E. E., Golder, Z. J., Karet Frankl, F. E., Steel, K. P.
|
|
<strong>Mice deficient in H(+)-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.</strong>
|
|
Dis. Model Mech. 6: 434-442, 2013.
|
|
|
|
|
|
[PubMed: 23065636]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1242/dmm.010645]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Norgett, E. E., Golder, Z. J., Lorente-Canovas, B., Ingham, N., Steel, K. P., Karet Frankl, F. E.
|
|
<strong>Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype.</strong>
|
|
Proc. Nat. Acad. Sci. 109: 13775-13780, 2012.
|
|
|
|
|
|
[PubMed: 22872862]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.1204257109]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P., Scherer, S. W., Karet, F. E.
|
|
<strong>Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.</strong>
|
|
Nature Genet. 26: 71-75, 2000.
|
|
|
|
|
|
[PubMed: 10973252]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/79208]
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stover, E. H., Borthwick, K. J., Bavalia, C., Eady, N., Fritz, D. M., Rungroj, N., Giersch, A. B. S., Morton, C. C., Axon, P. R., Akil, I., Al-Sabban, E. A., Baguley, D. M., and 20 others.
|
|
<strong>Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.</strong>
|
|
J. Med. Genet. 39: 796-803, 2002.
|
|
|
|
|
|
[PubMed: 12414817]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.39.11.796]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vargas-Poussou, R., Houillier, P., Le Pottier, N., Stompf, L., Loirat, C., Baudouin, V., Macher, M.-A., Dechaux, M., Ulinski, T., Nobili, F., Eckart, P., Novo, R., and 15 others.
|
|
<strong>Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.</strong>
|
|
J. Am. Soc. Nephrol. 17: 1437-1443, 2006.
|
|
|
|
|
|
[PubMed: 16611712]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1681/ASN.2005121305]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Carol A. Bocchini - updated : 08/28/2020<br>Paul J. Converse - updated : 09/06/2017<br>Ada Hamosh - updated : 02/16/2017<br>Victor A. McKusick - updated : 5/4/2004<br>Marla J. F. O'Neill - updated : 2/5/2004
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