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Entry
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- *192132 - ATPase, H+ TRANSPORTING, LYSOSOMAL, 56/58-KD, V1 SUBUNIT B, ISOFORM 1; ATP6V1B1
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- OMIM
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<p>
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<span class="h4">*192132</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/192132">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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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 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="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=ENSG00000116039;t=ENST00000234396" 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=525" 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=192132" 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 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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<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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<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=ENSG00000116039;t=ENST00000234396" 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_001692,XM_011532907" 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_001692" 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=192132" 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=01887&isoform_id=01887_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/ATP6V1B1" 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/190460,4093211,19913426,39645819,62897863,119620196,119620197,158255678,189053759,194376956,215274116,558761531,698975407,767914686,2462574330" 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/P15313" 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 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=525" 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=ENSG00000116039;t=ENST00000234396" 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=ATP6V1B1" 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=ATP6V1B1" 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+525" 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/ATP6V1B1" 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:525" 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/525" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr2&hgg_gene=ENST00000234396.10&hgg_start=70935900&hgg_end=70965431&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 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/genes/HGNC:853" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/atp6v1b1" 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=192132[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=192132[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/ENSG00000116039" 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=ATP6V1B1" 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=ATP6V1B1" 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=ATP6V1B1" 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=ATP6V1B1&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/PA25154" 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 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:853" 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/FBgn0005671.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:103285" 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/ATP6V1B1#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:103285" 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/525/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=525" 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=WBGene00004959;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00004959 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00006921;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00006921 </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:525" 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=ATP6V1B1&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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192132
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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, 56/58-KD, V1 SUBUNIT B, ISOFORM 1; ATP6V1B1
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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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ATP6B1<br />
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VACUOLAR PROTON PUMP, SUBUNIT 3; VPP3
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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=ATP6V1B1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ATP6V1B1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/2/343?start=-3&limit=10&highlight=343">2p13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:70935900-70965431&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">2:70,935,900-70,965,431</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/2/343?start=-3&limit=10&highlight=343">
|
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2p13.3
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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 2 with progressive 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/267300"> 267300 </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">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/192132" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/192132" 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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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<p>ATP6B1 encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. The encoded protein is one of 2 B-subunit isoforms contained within the catalytic domain. H(+)-transporting ATPases are ubiquitous in nature; V-ATPases pump protons against an electrochemical gradient, whereas F-ATPases reverse the process, synthesizing ATP. The 8 or 9 polypeptides that represent subunits of ATP-driven proton pumps associated with the clathrin-coated vesicles and synaptic vesicles are numbered in order of descending apparent molecular mass (<a href="#9" class="mim-tip-reference" title="Xie, X. S., Stone, D. K. <strong>Isolation and reconstitution of the clathrin-coated vesicle proton translocating complex.</strong> J. Biol. Chem. 261: 2492-2495, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2869030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2869030</a>]" pmid="2869030">Xie and Stone, 1986</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2869030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Sudhof, T. C., Fried, V. A., Stone, D. K., Johnston, P. A., Xie, X.-S. <strong>Human endomembrane H+ pump strongly resembles the ATP-synthetase of Archaebacteria.</strong> Proc. Nat. Acad. Sci. 86: 6067-6071, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2527371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2527371</a>] [<a href="https://doi.org/10.1073/pnas.86.16.6067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2527371">Sudhof et al. (1989)</a> cloned the B1 isoform by screening a human kidney cDNA library with probes designed from the amino acid sequence of the bovine homolog. The deduced 513-amino acid protein has a calculated molecular mass of 56.7 kD. <a href="#4" class="mim-tip-reference" title="Nelson, R. D., Guo, X.-L., Masood, K., Brown, D., Kalkbrenner, M., Gluck, S. <strong>Selectively amplified expression of an isoform of the vacuolar H(+)-ATPase 56-kilodalton subunit in renal intercalated cells.</strong> Proc. Nat. Acad. Sci. 89: 3541-3545, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1373501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1373501</a>] [<a href="https://doi.org/10.1073/pnas.89.8.3541" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1373501">Nelson et al. (1992)</a> noted that the B1 and B2 (<a href="/entry/606939">606939</a>) isoforms show a high degree of conservation in the internal region of the protein, but diverge at the N- and C-termini. By Northern blot analysis, <a href="#8" class="mim-tip-reference" title="van Hille, B., Richener, H., Schmid, P., Puettner, I., Green, J. R., Bilbe, G. <strong>Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms.</strong> Biochem. J. 303: 191-198, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7945239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7945239</a>] [<a href="https://doi.org/10.1042/bj3030191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7945239">van Hille et al. (1994)</a> found abundant expression of a 2-kb ATP6B1 transcript in kidney, intermediate expression in placenta, and no expression in pancreas, muscle, liver, lung, brain, or heart. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7945239+2527371+1373501" 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 study of appropriate interspecific somatic cell hybrids, <a href="#6" class="mim-tip-reference" title="Ozcelik, T., Suedhof, T. C., Francke, U. <strong>Chromosomal assignments of genes for vacuolar (endomembrane) proton pump subunits VPP1/Vpp-1 (116 kDa) and VPP3/Vpp-3 (58 kDa) in human and mouse. (Abstract)</strong> Cytogenet. Cell Genet. 58: 2008-2009, 1991."None>Ozcelik et al. (1991)</a> mapped the gene for the 58-kD subunit (VPP3) to human chromosome 2 and mouse chromosome 8. By study of hybrid cells with various fragments of chromosome 2, they demonstrated that the VPP3 gene is located in 2cen-q13. By analysis of recombinant inbred strains, they showed that in mice Vpp3 is closely linked to Lpl (<a href="/entry/238600">238600</a>), which is on mouse chromosome 8 and human chromosome 8.</p><p><a href="#2" class="mim-tip-reference" title="Karet, F. E., Finberg, K. E., Nelson, R. D., Nayir, A., Mocan, H., Sanjad, S. A, Rodriguez-Soriano, J., Santos, F., Cremers, C. W. R. J., DiPietro, A., Hoffbrand, B. I., Winiarski, J., Bakkaloglu, A., Ozen, S., Dusunsel, R., Goodyer, P., Hulton, S. A., Wu, D. K., Skvorak, A. B., Morton, C. C., Cunningham, M. J., Jha, V., Lifton, R. P. <strong>Mutations in the gene encoding B1 subunit of H(+)-ATPase cause renal tubular acidosis with sensorineural deafness.</strong> Nature Genet. 21: 84-90, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9916796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9916796</a>] [<a href="https://doi.org/10.1038/5022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9916796">Karet et al. (1999)</a> mapped the human ATP6B1 gene to the centromeric region of chromosome 2 by radiation hybrid mapping and by linkage using intragenic variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9916796" 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="#2" class="mim-tip-reference" title="Karet, F. E., Finberg, K. E., Nelson, R. D., Nayir, A., Mocan, H., Sanjad, S. A, Rodriguez-Soriano, J., Santos, F., Cremers, C. W. R. J., DiPietro, A., Hoffbrand, B. I., Winiarski, J., Bakkaloglu, A., Ozen, S., Dusunsel, R., Goodyer, P., Hulton, S. A., Wu, D. K., Skvorak, A. B., Morton, C. C., Cunningham, M. J., Jha, V., Lifton, R. P. <strong>Mutations in the gene encoding B1 subunit of H(+)-ATPase cause renal tubular acidosis with sensorineural deafness.</strong> Nature Genet. 21: 84-90, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9916796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9916796</a>] [<a href="https://doi.org/10.1038/5022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9916796">Karet et al. (1999)</a> demonstrated that mutations in the ATP6B1 gene, encoding the B subunit of the apical proton pump mediating distal nephron acid secretion, cause distal renal tubular acidosis associated with progressive sensorineural hearing loss (DRTA2; <a href="/entry/267300">267300</a>). The sensorineural hearing loss is consistent with the demonstration by <a href="#2" class="mim-tip-reference" title="Karet, F. E., Finberg, K. E., Nelson, R. D., Nayir, A., Mocan, H., Sanjad, S. A, Rodriguez-Soriano, J., Santos, F., Cremers, C. W. R. J., DiPietro, A., Hoffbrand, B. I., Winiarski, J., Bakkaloglu, A., Ozen, S., Dusunsel, R., Goodyer, P., Hulton, S. A., Wu, D. K., Skvorak, A. B., Morton, C. C., Cunningham, M. J., Jha, V., Lifton, R. P. <strong>Mutations in the gene encoding B1 subunit of H(+)-ATPase cause renal tubular acidosis with sensorineural deafness.</strong> Nature Genet. 21: 84-90, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9916796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9916796</a>] [<a href="https://doi.org/10.1038/5022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9916796">Karet et al. (1999)</a> that ATP6B1 is expressed in the cochlea and endolymphatic sac. Active proton secretion is required to maintain proper endolymph pH and normal auditory function. ATP6B1 was the first member of the H(+)-ATPase gene family in which mutations were shown to cause human disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9916796" 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 SSCP of all coding regions and intron-exon boundaries of the ATP6B1 gene, <a href="#2" class="mim-tip-reference" title="Karet, F. E., Finberg, K. E., Nelson, R. D., Nayir, A., Mocan, H., Sanjad, S. A, Rodriguez-Soriano, J., Santos, F., Cremers, C. W. R. J., DiPietro, A., Hoffbrand, B. I., Winiarski, J., Bakkaloglu, A., Ozen, S., Dusunsel, R., Goodyer, P., Hulton, S. A., Wu, D. K., Skvorak, A. B., Morton, C. C., Cunningham, M. J., Jha, V., Lifton, R. P. <strong>Mutations in the gene encoding B1 subunit of H(+)-ATPase cause renal tubular acidosis with sensorineural deafness.</strong> Nature Genet. 21: 84-90, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9916796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9916796</a>] [<a href="https://doi.org/10.1038/5022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9916796">Karet et al. (1999)</a> identified mutations in 19 of 62 kindreds with distal renal tubular acidosis associated with sensorineural deafness (10 recessive and 9 sporadic). There were 15 different mutations that introduced premature termination codons, frameshift mutations, splice site mutations, or nonconservative missense substitutions. Affected individuals were homozygous for the mutations in all except 1 sporadic case which was compound heterozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9916796" 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 consanguineous Turkish kindred, a brother manifested osteopetrosis and distal RTA (see CA2 deficiency, <a href="/entry/259730">259730</a>), whereas his sister manifested only distal RTA and developed sensorineural deafness. <a href="#1" class="mim-tip-reference" title="Borthwick, K. J., Kandemir, N., Topaloglu, R., Kornak, U., Bakkaloglu, A., Yordam, N., Ozen, S., Mocan, H., Shah, G. N., Sly, W. S., Karet, F. E. <strong>A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.</strong> J. Med. Genet. 40: 115-121, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12566520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12566520</a>] [<a href="https://doi.org/10.1136/jmg.40.2.115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12566520">Borthwick et al. (2003)</a> excluded defects in the CA2 gene and found instead penetrance of 2 separate recessive disorders, each affecting a different, tissue-specific subunit of the vacuolar proton pump H(+)-ATPase. The osteopetrosis was the result of a homozygous deletion in the TCIRG1 gene (<a href="/entry/604592#0007">604592.0007</a>), which encodes an osteoclast-specific isoform of subunit A of H(+)-ATPase, whereas the distal RTA was associated with a homozygous mutation in the ATP6V1B1 gene (<a href="#0005">192132.0005</a>). <a href="#1" class="mim-tip-reference" title="Borthwick, K. J., Kandemir, N., Topaloglu, R., Kornak, U., Bakkaloglu, A., Yordam, N., Ozen, S., Mocan, H., Shah, G. N., Sly, W. S., Karet, F. E. <strong>A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.</strong> J. Med. Genet. 40: 115-121, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12566520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12566520</a>] [<a href="https://doi.org/10.1136/jmg.40.2.115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12566520">Borthwick et al. (2003)</a> concluded that coinheritance of 2 rare recessive disorders created a phenocopy of CA2 deficiency in this kindred. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12566520" 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> rs121964879 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964879;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/rs121964879?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=rs121964879" 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=rs121964879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 unrelated kindreds with distal renal tubular acidosis with progressive sensorineural hearing loss (DRTA2; <a href="/entry/267300">267300</a>) from Turkey and Spain, <a href="#2" class="mim-tip-reference" title="Karet, F. E., Finberg, K. E., Nelson, R. D., Nayir, A., Mocan, H., Sanjad, S. A, Rodriguez-Soriano, J., Santos, F., Cremers, C. W. R. J., DiPietro, A., Hoffbrand, B. I., Winiarski, J., Bakkaloglu, A., Ozen, S., Dusunsel, R., Goodyer, P., Hulton, S. A., Wu, D. K., Skvorak, A. B., Morton, C. C., Cunningham, M. J., Jha, V., Lifton, R. P. <strong>Mutations in the gene encoding B1 subunit of H(+)-ATPase cause renal tubular acidosis with sensorineural deafness.</strong> Nature Genet. 21: 84-90, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9916796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9916796</a>] [<a href="https://doi.org/10.1038/5022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9916796">Karet et al. (1999)</a> found a change in codon 31 of the ATP6B1 gene converting CGA (arg) to TGA (stop). The mutation (R31X) was homozygous in each instance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9916796" 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>.0002 RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE 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> rs782152033 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs782152033;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/rs782152033?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=rs782152033" 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=rs782152033" 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=RCV000681883 OR RCV001849427 OR RCV002221248" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000681883, RCV001849427, RCV002221248" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000681883...</a>
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<p>In a male in whom the diagnosis of distal renal tubular acidosis with deafness (DRTA2; <a href="/entry/267300">267300</a>) had been made at the age of 1 month, <a href="#2" class="mim-tip-reference" title="Karet, F. E., Finberg, K. E., Nelson, R. D., Nayir, A., Mocan, H., Sanjad, S. A, Rodriguez-Soriano, J., Santos, F., Cremers, C. W. R. J., DiPietro, A., Hoffbrand, B. I., Winiarski, J., Bakkaloglu, A., Ozen, S., Dusunsel, R., Goodyer, P., Hulton, S. A., Wu, D. K., Skvorak, A. B., Morton, C. C., Cunningham, M. J., Jha, V., Lifton, R. P. <strong>Mutations in the gene encoding B1 subunit of H(+)-ATPase cause renal tubular acidosis with sensorineural deafness.</strong> Nature Genet. 21: 84-90, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9916796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9916796</a>] [<a href="https://doi.org/10.1038/5022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9916796">Karet et al. (1999)</a> found a deletion of 1 basepair (a C) from codon 166 (ACG) causing a frameshift and a premature termination at codon 174 of the ATP6B1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9916796" 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, 2, WITH PROGRESSIVE 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> rs782723581 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs782723581;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/rs782723581?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=rs782723581" 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=rs782723581" 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=RCV000013013 OR RCV001857338" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013013, RCV001857338" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013013...</a>
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<p>In a male in whom the diagnosis of distal renal tubular acidosis with deafness (DRTA2; <a href="/entry/267300">267300</a>) had been made at the age of 5 months, <a href="#2" class="mim-tip-reference" title="Karet, F. E., Finberg, K. E., Nelson, R. D., Nayir, A., Mocan, H., Sanjad, S. A, Rodriguez-Soriano, J., Santos, F., Cremers, C. W. R. J., DiPietro, A., Hoffbrand, B. I., Winiarski, J., Bakkaloglu, A., Ozen, S., Dusunsel, R., Goodyer, P., Hulton, S. A., Wu, D. K., Skvorak, A. B., Morton, C. C., Cunningham, M. J., Jha, V., Lifton, R. P. <strong>Mutations in the gene encoding B1 subunit of H(+)-ATPase cause renal tubular acidosis with sensorineural deafness.</strong> Nature Genet. 21: 84-90, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9916796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9916796</a>] [<a href="https://doi.org/10.1038/5022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9916796">Karet et al. (1999)</a> found homozygosity for a splice site mutation in the ATP6B1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9916796" 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>.0004 RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS</strong>
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ATP6V1B1, LEU81PRO
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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> rs121964880 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964880;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/rs121964880?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=rs121964880" 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=rs121964880" 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=RCV000013014 OR RCV000662318 OR RCV001386294 OR RCV001849262" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013014, RCV000662318, RCV001386294, RCV001849262" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013014...</a>
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<p>In a female in whom the diagnosis of renal tubular acidosis with deafness (DRTA2; <a href="/entry/267300">267300</a>) had been made at the age of 2 years, <a href="#2" class="mim-tip-reference" title="Karet, F. E., Finberg, K. E., Nelson, R. D., Nayir, A., Mocan, H., Sanjad, S. A, Rodriguez-Soriano, J., Santos, F., Cremers, C. W. R. J., DiPietro, A., Hoffbrand, B. I., Winiarski, J., Bakkaloglu, A., Ozen, S., Dusunsel, R., Goodyer, P., Hulton, S. A., Wu, D. K., Skvorak, A. B., Morton, C. C., Cunningham, M. J., Jha, V., Lifton, R. P. <strong>Mutations in the gene encoding B1 subunit of H(+)-ATPase cause renal tubular acidosis with sensorineural deafness.</strong> Nature Genet. 21: 84-90, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9916796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9916796</a>] [<a href="https://doi.org/10.1038/5022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9916796">Karet et al. (1999)</a> found a leu81-to-pro (L81P) missense mutation in the ATP6B1 gene in homozygous state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9916796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Mohebbi, N., Vargas-Poussou, R., Hegemann, S. C. A., Schuknecht, B., Kistler, A. D., Wuthrich, R. P., Wagner, C. A. <strong>Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.</strong> Clin. Genet. 83: 274-278, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22509993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22509993</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2012.01891.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22509993">Mohebbi et al. (2013)</a> identified the L81P mutation in 2 unrelated families from Kosovo with renal tubular acidosis with deafness, suggesting that this mutation may be more common in this region. One patient carried the mutation in homozygosity, whereas the other carried it in compound heterozygous state with another pathogenic ATP6V1B1 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22509993" 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, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS</strong>
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ATP6V1B1, GLY78ARG
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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> rs121964881 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964881;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/rs121964881?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=rs121964881" 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=rs121964881" 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=RCV000013015 OR RCV000623792 OR RCV001565148" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013015, RCV000623792, RCV001565148" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013015...</a>
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<p>In a brother and sister from a consanguineous Turkish kindred who manifested distal renal tubular acidosis and deafness (DRTA2; <a href="/entry/267300">267300</a>), <a href="#1" class="mim-tip-reference" title="Borthwick, K. J., Kandemir, N., Topaloglu, R., Kornak, U., Bakkaloglu, A., Yordam, N., Ozen, S., Mocan, H., Shah, G. N., Sly, W. S., Karet, F. E. <strong>A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.</strong> J. Med. Genet. 40: 115-121, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12566520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12566520</a>] [<a href="https://doi.org/10.1136/jmg.40.2.115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12566520">Borthwick et al. (2003)</a> identified a homozygous G-to-A transition in the ATP6V1B1 gene, resulting in a gly78-to-arg (G78R) substitution. Both unaffected parents were heterozygous for the mutation. The brother also had osteopetrosis (<a href="/entry/259700">259700</a>) due to a concurrent homozygous deletion in the TCIRG1 gene (<a href="/entry/604592#0007">604592.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12566520" 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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<h4>
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<span class="mim-font">
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<strong>.0006 RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE 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">rs1553420702 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553420702;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=rs1553420702" 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=rs1553420702" 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=RCV000671126 OR RCV001868251" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000671126, RCV001868251" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000671126...</a>
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<p>In 12 patients with distal renal tubular acidosis and deafness (DRTA2; <a href="/entry/267300">267300</a>) from Antioquia, Colombia, <a href="#5" class="mim-tip-reference" title="Nikali, K., Vanegas, J. J., Burley, M.-W., Martinez, J., Lopez, L. M., Bedoya, G., Wrong, O. M., Povey, S., Unwin, R. J., Ruiz-Linares, A. <strong>Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population. (Letter)</strong> Am. J. Med. Genet. 146A: 2709-2712, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18798332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18798332</a>] [<a href="https://doi.org/10.1002/ajmg.a.32495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18798332">Nikali et al. (2008)</a> identified a homozygous G-to-C transversion in intron 12 of the ATP6V1B1 gene, predicted to result in exon skipping and disruption of the C-terminal ATP synthase domain. The mutation was not found in 92 control chromosomes, and haplotype analysis was consistent with a founder effect. Antioquia is a historically isolated population in northwestern Colombia that was established in the 16th to 17th century by an admixture mainly of Native Americans and Spanish immigrants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18798332" 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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Borthwick, K. J., Kandemir, N., Topaloglu, R., Kornak, U., Bakkaloglu, A., Yordam, N., Ozen, S., Mocan, H., Shah, G. N., Sly, W. S., Karet, F. E.
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<strong>A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.</strong>
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[<a href="https://doi.org/10.1136/jmg.40.2.115" target="_blank">Full Text</a>]
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<a id="Karet1999" class="mim-anchor"></a>
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Karet, F. E., Finberg, K. E., Nelson, R. D., Nayir, A., Mocan, H., Sanjad, S. A, Rodriguez-Soriano, J., Santos, F., Cremers, C. W. R. J., DiPietro, A., Hoffbrand, B. I., Winiarski, J., Bakkaloglu, A., Ozen, S., Dusunsel, R., Goodyer, P., Hulton, S. A., Wu, D. K., Skvorak, A. B., Morton, C. C., Cunningham, M. J., Jha, V., Lifton, R. P.
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<strong>Mutations in the gene encoding B1 subunit of H(+)-ATPase cause renal tubular acidosis with sensorineural deafness.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9916796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9916796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9916796" 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/10.1038/5022" target="_blank">Full Text</a>]
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Mohebbi, N., Vargas-Poussou, R., Hegemann, S. C. A., Schuknecht, B., Kistler, A. D., Wuthrich, R. P., Wagner, C. A.
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<strong>Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.</strong>
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Clin. Genet. 83: 274-278, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22509993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22509993</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22509993" 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/10.1111/j.1399-0004.2012.01891.x" target="_blank">Full Text</a>]
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Nelson, R. D., Guo, X.-L., Masood, K., Brown, D., Kalkbrenner, M., Gluck, S.
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<strong>Selectively amplified expression of an isoform of the vacuolar H(+)-ATPase 56-kilodalton subunit in renal intercalated cells.</strong>
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Proc. Nat. Acad. Sci. 89: 3541-3545, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1373501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1373501</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1373501" 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.89.8.3541" target="_blank">Full Text</a>]
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Nikali, K., Vanegas, J. J., Burley, M.-W., Martinez, J., Lopez, L. M., Bedoya, G., Wrong, O. M., Povey, S., Unwin, R. J., Ruiz-Linares, A.
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<strong>Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population. (Letter)</strong>
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Am. J. Med. Genet. 146A: 2709-2712, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18798332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18798332</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18798332" 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/10.1002/ajmg.a.32495" target="_blank">Full Text</a>]
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Ozcelik, T., Suedhof, T. C., Francke, U.
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<strong>Chromosomal assignments of genes for vacuolar (endomembrane) proton pump subunits VPP1/Vpp-1 (116 kDa) and VPP3/Vpp-3 (58 kDa) in human and mouse. (Abstract)</strong>
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Cytogenet. Cell Genet. 58: 2008-2009, 1991.
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Sudhof, T. C., Fried, V. A., Stone, D. K., Johnston, P. A., Xie, X.-S.
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<strong>Human endomembrane H+ pump strongly resembles the ATP-synthetase of Archaebacteria.</strong>
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Proc. Nat. Acad. Sci. 86: 6067-6071, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2527371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2527371</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2527371" 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.86.16.6067" target="_blank">Full Text</a>]
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van Hille, B., Richener, H., Schmid, P., Puettner, I., Green, J. R., Bilbe, G.
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<strong>Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms.</strong>
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Biochem. J. 303: 191-198, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7945239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7945239</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7945239" 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/10.1042/bj3030191" target="_blank">Full Text</a>]
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Xie, X. S., Stone, D. K.
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<strong>Isolation and reconstitution of the clathrin-coated vesicle proton translocating complex.</strong>
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J. Biol. Chem. 261: 2492-2495, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2869030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2869030</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2869030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 4/29/2013
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Cassandra L. Kniffin - updated : 6/16/2009<br>Marla J. F. O'Neill - updated : 12/29/2004<br>Patricia A. Hartz - updated : 5/14/2002<br>Victor A. McKusick - updated : 12/22/1998
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<span class="mim-text-font">
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Victor A. McKusick : 8/6/1991
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alopez : 02/12/2021
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carol : 08/28/2020<br>carol : 08/27/2020<br>carol : 05/03/2013<br>ckniffin : 4/29/2013<br>wwang : 6/23/2009<br>ckniffin : 6/16/2009<br>carol : 12/29/2004<br>carol : 2/2/2004<br>carol : 9/9/2002<br>carol : 5/14/2002<br>alopez : 1/6/1999<br>alopez : 12/23/1998<br>terry : 12/22/1998<br>psherman : 10/8/1998<br>carol : 8/18/1998<br>supermim : 3/16/1992<br>carol : 2/23/1992<br>carol : 8/6/1991
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<strong>*</strong> 192132
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ATPase, H+ TRANSPORTING, LYSOSOMAL, 56/58-KD, V1 SUBUNIT B, ISOFORM 1; ATP6V1B1
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ATP6B1<br />
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VACUOLAR PROTON PUMP, SUBUNIT 3; VPP3
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<strong><em>HGNC Approved Gene Symbol: ATP6V1B1</em></strong>
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Cytogenetic location: 2p13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:70,935,900-70,965,431 </span>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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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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2p13.3
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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 2 with progressive 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">
|
|
267300
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>ATP6B1 encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. The encoded protein is one of 2 B-subunit isoforms contained within the catalytic domain. H(+)-transporting ATPases are ubiquitous in nature; V-ATPases pump protons against an electrochemical gradient, whereas F-ATPases reverse the process, synthesizing ATP. The 8 or 9 polypeptides that represent subunits of ATP-driven proton pumps associated with the clathrin-coated vesicles and synaptic vesicles are numbered in order of descending apparent molecular mass (Xie and Stone, 1986). </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>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sudhof et al. (1989) cloned the B1 isoform by screening a human kidney cDNA library with probes designed from the amino acid sequence of the bovine homolog. The deduced 513-amino acid protein has a calculated molecular mass of 56.7 kD. Nelson et al. (1992) noted that the B1 and B2 (606939) isoforms show a high degree of conservation in the internal region of the protein, but diverge at the N- and C-termini. By Northern blot analysis, van Hille et al. (1994) found abundant expression of a 2-kb ATP6B1 transcript in kidney, intermediate expression in placenta, and no expression in pancreas, muscle, liver, lung, brain, or heart. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>By study of appropriate interspecific somatic cell hybrids, Ozcelik et al. (1991) mapped the gene for the 58-kD subunit (VPP3) to human chromosome 2 and mouse chromosome 8. By study of hybrid cells with various fragments of chromosome 2, they demonstrated that the VPP3 gene is located in 2cen-q13. By analysis of recombinant inbred strains, they showed that in mice Vpp3 is closely linked to Lpl (238600), which is on mouse chromosome 8 and human chromosome 8.</p><p>Karet et al. (1999) mapped the human ATP6B1 gene to the centromeric region of chromosome 2 by radiation hybrid mapping and by linkage using intragenic variants. </p>
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</span>
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<div>
|
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<br />
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>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>Karet et al. (1999) demonstrated that mutations in the ATP6B1 gene, encoding the B subunit of the apical proton pump mediating distal nephron acid secretion, cause distal renal tubular acidosis associated with progressive sensorineural hearing loss (DRTA2; 267300). The sensorineural hearing loss is consistent with the demonstration by Karet et al. (1999) that ATP6B1 is expressed in the cochlea and endolymphatic sac. Active proton secretion is required to maintain proper endolymph pH and normal auditory function. ATP6B1 was the first member of the H(+)-ATPase gene family in which mutations were shown to cause human disease. </p><p>Using SSCP of all coding regions and intron-exon boundaries of the ATP6B1 gene, Karet et al. (1999) identified mutations in 19 of 62 kindreds with distal renal tubular acidosis associated with sensorineural deafness (10 recessive and 9 sporadic). There were 15 different mutations that introduced premature termination codons, frameshift mutations, splice site mutations, or nonconservative missense substitutions. Affected individuals were homozygous for the mutations in all except 1 sporadic case which was compound heterozygous. </p><p>In a consanguineous Turkish kindred, a brother manifested osteopetrosis and distal RTA (see CA2 deficiency, 259730), whereas his sister manifested only distal RTA and developed sensorineural deafness. Borthwick et al. (2003) excluded defects in the CA2 gene and found instead penetrance of 2 separate recessive disorders, each affecting a different, tissue-specific subunit of the vacuolar proton pump H(+)-ATPase. The osteopetrosis was the result of a homozygous deletion in the TCIRG1 gene (604592.0007), which encodes an osteoclast-specific isoform of subunit A of H(+)-ATPase, whereas the distal RTA was associated with a homozygous mutation in the ATP6V1B1 gene (192132.0005). Borthwick et al. (2003) concluded that coinheritance of 2 rare recessive disorders created a phenocopy of CA2 deficiency in this kindred. </p>
|
|
</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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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>6 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
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|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ATP6V1B1, ARG31TER
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs121964879,
|
|
|
|
|
|
gnomAD: rs121964879,
|
|
|
|
|
|
ClinVar: RCV000013011, RCV001851814
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 unrelated kindreds with distal renal tubular acidosis with progressive sensorineural hearing loss (DRTA2; 267300) from Turkey and Spain, Karet et al. (1999) found a change in codon 31 of the ATP6B1 gene converting CGA (arg) to TGA (stop). The mutation (R31X) was homozygous in each instance. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ATP6V1B1, 1-BP DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs782152033,
|
|
|
|
|
|
gnomAD: rs782152033,
|
|
|
|
|
|
ClinVar: RCV000681883, RCV001849427, RCV002221248
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male in whom the diagnosis of distal renal tubular acidosis with deafness (DRTA2; 267300) had been made at the age of 1 month, Karet et al. (1999) found a deletion of 1 basepair (a C) from codon 166 (ACG) causing a frameshift and a premature termination at codon 174 of the ATP6B1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ATP6V1B1, IVS6DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs782723581,
|
|
|
|
|
|
gnomAD: rs782723581,
|
|
|
|
|
|
ClinVar: RCV000013013, RCV001857338
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male in whom the diagnosis of distal renal tubular acidosis with deafness (DRTA2; 267300) had been made at the age of 5 months, Karet et al. (1999) found homozygosity for a splice site mutation in the ATP6B1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ATP6V1B1, LEU81PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121964880,
|
|
|
|
|
|
gnomAD: rs121964880,
|
|
|
|
|
|
ClinVar: RCV000013014, RCV000662318, RCV001386294, RCV001849262
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female in whom the diagnosis of renal tubular acidosis with deafness (DRTA2; 267300) had been made at the age of 2 years, Karet et al. (1999) found a leu81-to-pro (L81P) missense mutation in the ATP6B1 gene in homozygous state. </p><p>Mohebbi et al. (2013) identified the L81P mutation in 2 unrelated families from Kosovo with renal tubular acidosis with deafness, suggesting that this mutation may be more common in this region. One patient carried the mutation in homozygosity, whereas the other carried it in compound heterozygous state with another pathogenic ATP6V1B1 mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ATP6V1B1, GLY78ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121964881,
|
|
|
|
|
|
gnomAD: rs121964881,
|
|
|
|
|
|
ClinVar: RCV000013015, RCV000623792, RCV001565148
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a brother and sister from a consanguineous Turkish kindred who manifested distal renal tubular acidosis and deafness (DRTA2; 267300), Borthwick et al. (2003) identified a homozygous G-to-A transition in the ATP6V1B1 gene, resulting in a gly78-to-arg (G78R) substitution. Both unaffected parents were heterozygous for the mutation. The brother also had osteopetrosis (259700) due to a concurrent homozygous deletion in the TCIRG1 gene (604592.0007). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ATP6V1B1, IVS12DS, G-C, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1553420702,
|
|
|
|
|
|
|
|
ClinVar: RCV000671126, RCV001868251
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 12 patients with distal renal tubular acidosis and deafness (DRTA2; 267300) from Antioquia, Colombia, Nikali et al. (2008) identified a homozygous G-to-C transversion in intron 12 of the ATP6V1B1 gene, predicted to result in exon skipping and disruption of the C-terminal ATP synthase domain. The mutation was not found in 92 control chromosomes, and haplotype analysis was consistent with a founder effect. Antioquia is a historically isolated population in northwestern Colombia that was established in the 16th to 17th century by an admixture mainly of Native Americans and Spanish immigrants. </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">
|
|
Borthwick, K. J., Kandemir, N., Topaloglu, R., Kornak, U., Bakkaloglu, A., Yordam, N., Ozen, S., Mocan, H., Shah, G. N., Sly, W. S., Karet, F. E.
|
|
<strong>A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.</strong>
|
|
J. Med. Genet. 40: 115-121, 2003.
|
|
|
|
|
|
[PubMed: 12566520]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.40.2.115]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Karet, F. E., Finberg, K. E., Nelson, R. D., Nayir, A., Mocan, H., Sanjad, S. A, Rodriguez-Soriano, J., Santos, F., Cremers, C. W. R. J., DiPietro, A., Hoffbrand, B. I., Winiarski, J., Bakkaloglu, A., Ozen, S., Dusunsel, R., Goodyer, P., Hulton, S. A., Wu, D. K., Skvorak, A. B., Morton, C. C., Cunningham, M. J., Jha, V., Lifton, R. P.
|
|
<strong>Mutations in the gene encoding B1 subunit of H(+)-ATPase cause renal tubular acidosis with sensorineural deafness.</strong>
|
|
Nature Genet. 21: 84-90, 1999.
|
|
|
|
|
|
[PubMed: 9916796]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/5022]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mohebbi, N., Vargas-Poussou, R., Hegemann, S. C. A., Schuknecht, B., Kistler, A. D., Wuthrich, R. P., Wagner, C. A.
|
|
<strong>Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.</strong>
|
|
Clin. Genet. 83: 274-278, 2013.
|
|
|
|
|
|
[PubMed: 22509993]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2012.01891.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nelson, R. D., Guo, X.-L., Masood, K., Brown, D., Kalkbrenner, M., Gluck, S.
|
|
<strong>Selectively amplified expression of an isoform of the vacuolar H(+)-ATPase 56-kilodalton subunit in renal intercalated cells.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 3541-3545, 1992.
|
|
|
|
|
|
[PubMed: 1373501]
|
|
|
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|
|
[Full Text: https://doi.org/10.1073/pnas.89.8.3541]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nikali, K., Vanegas, J. J., Burley, M.-W., Martinez, J., Lopez, L. M., Bedoya, G., Wrong, O. M., Povey, S., Unwin, R. J., Ruiz-Linares, A.
|
|
<strong>Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population. (Letter)</strong>
|
|
Am. J. Med. Genet. 146A: 2709-2712, 2008.
|
|
|
|
|
|
[PubMed: 18798332]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.32495]
|
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ozcelik, T., Suedhof, T. C., Francke, U.
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<strong>Chromosomal assignments of genes for vacuolar (endomembrane) proton pump subunits VPP1/Vpp-1 (116 kDa) and VPP3/Vpp-3 (58 kDa) in human and mouse. (Abstract)</strong>
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Cytogenet. Cell Genet. 58: 2008-2009, 1991.
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Sudhof, T. C., Fried, V. A., Stone, D. K., Johnston, P. A., Xie, X.-S.
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<strong>Human endomembrane H+ pump strongly resembles the ATP-synthetase of Archaebacteria.</strong>
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Proc. Nat. Acad. Sci. 86: 6067-6071, 1989.
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[PubMed: 2527371]
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[Full Text: https://doi.org/10.1073/pnas.86.16.6067]
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van Hille, B., Richener, H., Schmid, P., Puettner, I., Green, J. R., Bilbe, G.
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<strong>Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms.</strong>
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Biochem. J. 303: 191-198, 1994.
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[PubMed: 7945239]
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[Full Text: https://doi.org/10.1042/bj3030191]
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Xie, X. S., Stone, D. K.
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<strong>Isolation and reconstitution of the clathrin-coated vesicle proton translocating complex.</strong>
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J. Biol. Chem. 261: 2492-2495, 1986.
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[PubMed: 2869030]
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Cassandra L. Kniffin - updated : 4/29/2013<br>Cassandra L. Kniffin - updated : 6/16/2009<br>Marla J. F. O'Neill - updated : 12/29/2004<br>Patricia A. Hartz - updated : 5/14/2002<br>Victor A. McKusick - updated : 12/22/1998
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Victor A. McKusick : 8/6/1991
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