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Entry
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- *611716 - ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2; ATP6V0A2
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- OMIM
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<p>
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<span class="h4">*611716</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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<a href="#description">Description</a>
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneFunction">Gene Function</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="#pathogenesis">Pathogenesis</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/611716">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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<h4 class="panel-title">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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=ENSG00000185344;t=ENST00000330342" 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=23545" 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=611716" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span 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=ENSG00000185344;t=ENST00000330342" 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_012463,XM_024448910,XM_024448911,XM_024448912" 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_012463" 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=611716" 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=16521&isoform_id=16521_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/ATP6V0A2" 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/4151944,18490157,42741679,46250259,119618840,119618842,158259805,172046607,194385026,1370461552,1370461554,1370461556,2462531049,2462531051,2462531053,2462531055" 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/Q9Y487" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=23545" 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=ENSG00000185344;t=ENST00000330342" 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=ATP6V0A2" 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=ATP6V0A2" 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+23545" 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/ATP6V0A2" 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:23545" 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/23545" 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=chr12&hgg_gene=ENST00000330342.8&hgg_start=123712353&hgg_end=123761755&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18481" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:18481" 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/atp6v0a2" 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=611716[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=611716[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/ENSG00000185344" 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=ATP6V0A2" 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=ATP6V0A2" 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=ATP6V0A2" 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=ATP6V0A2&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/PA38549" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:18481" 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/FBgn0028669.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:104855" 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/ATP6V0A2#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:104855" 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/23545/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=23545" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00006768;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00006768 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00006914;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00006914 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00006915;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00006915 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00006916;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00006916 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-060526-4" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23545" 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=ATP6V0A2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 238875009, 784381008<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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611716
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2; ATP6V0A2
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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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A2V-ATPase
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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=ATP6V0A2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ATP6V0A2</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/12/934?start=-3&limit=10&highlight=934">12q24.31</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:123712353-123761755&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'})">12:123,712,353-123,761,755</a> </span>
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
|
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</div>
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<div>
|
|
<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=219200,278250" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
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|
</th>
|
|
<th>
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|
Phenotype <br /> MIM number
|
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</th>
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<th>
|
|
Inheritance
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</th>
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
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</thead>
|
|
<tbody>
|
|
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<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/934?start=-3&limit=10&highlight=934">
|
|
12q24.31
|
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</a>
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
Cutis laxa, autosomal recessive, type IIA
|
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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/219200"> 219200 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<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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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>The multisubunit vacuolar-type proton pump (H(+)-ATPase or V-ATPase) is essential for acidification of diverse cellular components, including endosomes, lysosomes, clathrin-coated vesicles, secretory vesicles, and chromaffin granules, and it is found at high density in the plasma membrane of certain specialized cells. H(+)-ATPases are composed of a peripheral V(1) domain and an integral membrane V(0) domain; ATP6V0A2 is a component of the V(0) domain (<a href="#7" class="mim-tip-reference" title="Smith, A. N., Lovering, R. C., Futai, M., Takeda, J., Brown, D., Karet, F. E. <strong>Revised nomenclature for mammalian vacuolar-type H(+)-ATPase subunit genes.</strong> Molec. Cell 12: 801-803, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14580332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14580332</a>] [<a href="https://doi.org/10.1016/s1097-2765(03)00397-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14580332">Smith et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14580332" 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 screening for secreted immune regulatory proteins, <a href="#4" class="mim-tip-reference" title="Lee, C., Ghoshal, K., Beaman, K. D. <strong>Cloning of a cDNA for a T cell produced molecule with a putative immune regulatory role.</strong> Molec. Immun. 27: 1137-1144, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2247090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2247090</a>] [<a href="https://doi.org/10.1016/0161-5890(90)90102-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2247090">Lee et al. (1990)</a> cloned Atp6v0a2, which they called J6B7, from a mouse helper T cell hybridoma cDNA library. The deduced protein has a hydrophobic N terminus and 3 potential N-glycosylation sites, and it has a calculated molecular mass of 98.0 kD. Northern blot analysis detected abundant expression in the T cell hybridoma cells and in mouse thymus, but not in thymoma, spleen, or liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2247090" 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 flow cytometry and immunofluorescence microscopy, <a href="#6" class="mim-tip-reference" title="Ntrivalas, E., Gilman-Sachs, A., Kwak-Kim, J., Beaman, K. <strong>The N-terminus domain of the a2 isoform of vacuolar ATPase can regulate interleukin-1-beta production from mononuclear cells in co-culture with JEG-3 choriocarcinoma cells.</strong> Am. J. Reprod. Immunol. 57: 201-309, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17295899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17295899</a>] [<a href="https://doi.org/10.1111/j.1600-0897.2006.00463.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17295899">Ntrivalas et al. (2007)</a> showed that A2V-ATPase was expressed at the cell membrane and intracellularly in the JEG-3 human choriocarcinoma cell line. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17295899" 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="#4" class="mim-tip-reference" title="Lee, C., Ghoshal, K., Beaman, K. D. <strong>Cloning of a cDNA for a T cell produced molecule with a putative immune regulatory role.</strong> Molec. Immun. 27: 1137-1144, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2247090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2247090</a>] [<a href="https://doi.org/10.1016/0161-5890(90)90102-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2247090">Lee et al. (1990)</a> found that mouse Atp6v0a2 showed significant suppression of a mixed lymphocyte reaction in a dose-dependent manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2247090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Ntrivalas, E., Gilman-Sachs, A., Kwak-Kim, J., Beaman, K. <strong>The N-terminus domain of the a2 isoform of vacuolar ATPase can regulate interleukin-1-beta production from mononuclear cells in co-culture with JEG-3 choriocarcinoma cells.</strong> Am. J. Reprod. Immunol. 57: 201-309, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17295899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17295899</a>] [<a href="https://doi.org/10.1111/j.1600-0897.2006.00463.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17295899">Ntrivalas et al. (2007)</a> stated that upon cell stimulation, A2V- ATPase migrates to the cell membrane as a 50-kD molecule and the remaining 20-kD N-terminal domain is secreted into the extracellular environment. The authors showed that secretion of IL1B (<a href="/entry/147720">147720</a>) was increased and expression of type I and II interleukin receptors IL1R1 (<a href="/entry/147810">147810</a>) and IL1R2 (<a href="/entry/147811">147811</a>) were significantly decreased by the A2V-ATPase N-terminal domain in human peripheral blood mononuclear cells cocultured with JEG-3 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17295899" 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 homozygosity mapping in 15 consanguineous families, <a href="#3" class="mim-tip-reference" title="Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nurnberg, P., Foulquier, F., ARCL Debre-type Study Group, Lefeber, D., Urban, Z., and 9 others. <strong>Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2.</strong> Nature Genet. 40: 32-34, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18157129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18157129</a>] [<a href="https://doi.org/10.1038/ng.2007.45" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18157129">Kornak et al. (2008)</a> identified a critical region for autosomal recessive cutis laxa (<a href="/entry/219200">219200</a>) on chromosome 12q24 containing the ATP6V0A2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18157129" 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>Manifestations in cases of autosomal recessive cutis laxa (ARCL) type II (Debre type) (ARCL2A; <a href="/entry/219200">219200</a>) and wrinkly skin syndrome (WSS; <a href="/entry/278250">278250</a>) include, in addition to excessive congenital skin wrinkling, large fontanel with delayed closure, typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurologic abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. Because an association of a cutis laxa phenotype with a congenital disorder of glycosylation had been described and wrinkly skin observed in an individual with a defect in the conserved oligomeric Golgi (COG) complex involved in Golgi membrane trafficking, <a href="#3" class="mim-tip-reference" title="Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nurnberg, P., Foulquier, F., ARCL Debre-type Study Group, Lefeber, D., Urban, Z., and 9 others. <strong>Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2.</strong> Nature Genet. 40: 32-34, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18157129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18157129</a>] [<a href="https://doi.org/10.1038/ng.2007.45" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18157129">Kornak et al. (2008)</a> investigated glycosylation of serum proteins isolated from individuals with ARCL type II. All affected individuals showed a CDG type II (CDG II) pattern, which corresponds to a defect of N-glycosylation at the level of processing in the Golgi apparatus. By homozygosity mapping in 15 consanguineous families, <a href="#3" class="mim-tip-reference" title="Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nurnberg, P., Foulquier, F., ARCL Debre-type Study Group, Lefeber, D., Urban, Z., and 9 others. <strong>Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2.</strong> Nature Genet. 40: 32-34, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18157129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18157129</a>] [<a href="https://doi.org/10.1038/ng.2007.45" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18157129">Kornak et al. (2008)</a> identified a homozygous region on chromosome 12q24 with a maximum lod score of 3.2 in 12 families. The products of 9 of the genes in the critical linkage region were part of the Golgi proteome. In 12 families with diagnoses of either autosomal recessive cutis laxa type II or wrinkly skin syndrome, <a href="#3" class="mim-tip-reference" title="Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nurnberg, P., Foulquier, F., ARCL Debre-type Study Group, Lefeber, D., Urban, Z., and 9 others. <strong>Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2.</strong> Nature Genet. 40: 32-34, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18157129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18157129</a>] [<a href="https://doi.org/10.1038/ng.2007.45" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18157129">Kornak et al. (2008)</a> identified 10 different loss-of-function mutations in the ATP6V0A2 gene (see, e.g., <a href="#0001">611716.0001</a>-<a href="#0003">611716.0003</a>). Four were splice site mutations, 3 were nonsense, and 3 frameshift; 5 mutations led to a premature stop in the cytoplasmic N terminus, which is thought to mediate interaction with other ATPase subunits, and the other mutations led to truncations in transmembrane segments III, VI, and VIII. The mutations resulted in abnormal glycosylation of serum proteins (CDG II) and caused an impairment of Golgi trafficking in fibroblasts from affected individuals. The results indicated that the alpha-2 subunit of the proton pump has an important role in the Golgi function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18157129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Hucthagowder, V., Morava, E., Kornak, U., Lefeber, D. J., Fischer, B., Dimopoulou, A., Aldinger, A., Choi, J., Davis, E. C., Abuelo, D. N., Adamowicz, M., Al-Aama, J., and 14 others. <strong>Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.</strong> Hum. Molec. Genet. 18: 2149-2165, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19321599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19321599</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19321599[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19321599">Hucthagowder et al. (2009)</a> determined the molecular defects in ATP6V0A2 in a cohort of 17 patients with autosomal recessive cutis laxa. Considerable allelic and phenotypic heterogeneity was observed. Abnormal N- and/or mucin type O-glycosylation was observed in all patients tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19321599" 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 13 patients with ARCL2, <a href="#1" class="mim-tip-reference" title="Fischer, B., Dimopoulou, A., Egerer, J., Gardeitchik, T., Kidd, A., Jost, D., Kayserili, H., Alanay, Y., Tantcheva-Poor, I., Mangold, E., Daumer-Haas, C., Phadke, S., and 13 others. <strong>Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.</strong> Hum. Genet. 131: 1761-1773, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22773132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22773132</a>] [<a href="https://doi.org/10.1007/s00439-012-1197-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22773132">Fischer et al. (2012)</a> identified 17 ATP6V0A2 mutations: 1 mutation of the start codon, 3 missense mutations, 3 nonsense mutations, 3 splice site mutations, 3 in-frame deletions, and 4 frameshift mutations; 14 of the mutations were novel. All mutations but 1 were found in homozygous or compound heterozygous state. A heterozygous splice site mutation (117+1delG) was detected at the genomic as well as the cDNA level in a 40-year-old patient (patient 2), but a pronounced nonsense-mediated decay of the ATP6V0A2 mRNA in fibroblasts corroborated an ATP6V0A2-related ARCL2. <a href="#1" class="mim-tip-reference" title="Fischer, B., Dimopoulou, A., Egerer, J., Gardeitchik, T., Kidd, A., Jost, D., Kayserili, H., Alanay, Y., Tantcheva-Poor, I., Mangold, E., Daumer-Haas, C., Phadke, S., and 13 others. <strong>Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.</strong> Hum. Genet. 131: 1761-1773, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22773132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22773132</a>] [<a href="https://doi.org/10.1007/s00439-012-1197-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22773132">Fischer et al. (2012)</a> suggested that the second mutation most probably resided in noncoding regions not included in the mutation screening. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22773132" 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="Hucthagowder, V., Morava, E., Kornak, U., Lefeber, D. J., Fischer, B., Dimopoulou, A., Aldinger, A., Choi, J., Davis, E. C., Abuelo, D. N., Adamowicz, M., Al-Aama, J., and 14 others. <strong>Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.</strong> Hum. Molec. Genet. 18: 2149-2165, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19321599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19321599</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19321599[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19321599">Hucthagowder et al. (2009)</a> showed that premature stop codon mutations (see <a href="#0001">611716.0001</a>) led to decreased ATP6V0A2 mRNA levels by destabilizing the mutant mRNA via the nonsense-mediated decay pathway. Loss of ATP6V0A2 either by siRNA knockdown or in ARCL2 cells resulted in distended Golgi cisternae, accumulation of abnormal lysosomes and multivesicular bodies. Immunostaining of ARCL2 cells showed the accumulation of tropoelastin (ELN; <a href="/entry/130160">130160</a>) in the Golgi and in large, abnormal intracellular and extracellular aggregates. Pulse-chase studies confirmed impaired secretion and increased intracellular retention of ELN, and insoluble elastin assays showed significantly reduced extracellular deposition of mature elastin. Fibrillin-1 (FBN1; <a href="/entry/134797">134797</a>) microfibril assembly and secreted lysyl oxidase (LOX; <a href="/entry/153455">153455</a>) activity were normal in ARCL2 cells. TUNEL staining demonstrated increased rates of apoptosis in ARCL2 cell cultures. <a href="#2" class="mim-tip-reference" title="Hucthagowder, V., Morava, E., Kornak, U., Lefeber, D. J., Fischer, B., Dimopoulou, A., Aldinger, A., Choi, J., Davis, E. C., Abuelo, D. N., Adamowicz, M., Al-Aama, J., and 14 others. <strong>Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.</strong> Hum. Molec. Genet. 18: 2149-2165, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19321599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19321599</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19321599[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19321599">Hucthagowder et al. (2009)</a> concluded that loss-of-function mutations in ATP6V0A2 lead to ELN aggregation in the Golgi, impaired clearance of ELN aggregates, and increased apoptosis of elastogenic cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19321599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By immunostaining with an antibody against ATP6V0A2, <a href="#1" class="mim-tip-reference" title="Fischer, B., Dimopoulou, A., Egerer, J., Gardeitchik, T., Kidd, A., Jost, D., Kayserili, H., Alanay, Y., Tantcheva-Poor, I., Mangold, E., Daumer-Haas, C., Phadke, S., and 13 others. <strong>Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.</strong> Hum. Genet. 131: 1761-1773, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22773132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22773132</a>] [<a href="https://doi.org/10.1007/s00439-012-1197-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22773132">Fischer et al. (2012)</a> demonstrated localization of ATP6V0A2 at the Golgi-apparatus and a loss of the mutated ATP6V0A2 protein in the dermal fibroblasts of patients with ARCL2A. Investigation of brefeldin A-induced Golgi collapse in dermal fibroblasts as well as in HeLa cells deficient for ATP6V0A2 revealed a delay, which was absent in cells deficient for the ARCL-associated proteins GORAB (<a href="/entry/607983">607983</a>) and PYCR1 (<a href="/entry/179035">179035</a>). Furthermore, by detection of P-Smad2, <a href="#1" class="mim-tip-reference" title="Fischer, B., Dimopoulou, A., Egerer, J., Gardeitchik, T., Kidd, A., Jost, D., Kayserili, H., Alanay, Y., Tantcheva-Poor, I., Mangold, E., Daumer-Haas, C., Phadke, S., and 13 others. <strong>Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.</strong> Hum. Genet. 131: 1761-1773, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22773132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22773132</a>] [<a href="https://doi.org/10.1007/s00439-012-1197-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22773132">Fischer et al. (2012)</a> demonstrated that fibroblasts from patients with ATP6V0A2 mutations displayed elevated TGF-beta signaling and increased TGFB1 (<a href="/entry/190180">190180</a>) levels in the supernatant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22773132" 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> rs80356758 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356758;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/rs80356758?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=rs80356758" 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=rs80356758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Hispanic individual with type IIA autosomal recessive cutis laxa with a congenital disorder of glycosylation type II (CDG II) pattern (ARCL2A; <a href="/entry/219200">219200</a>), <a href="#3" class="mim-tip-reference" title="Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nurnberg, P., Foulquier, F., ARCL Debre-type Study Group, Lefeber, D., Urban, Z., and 9 others. <strong>Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2.</strong> Nature Genet. 40: 32-34, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18157129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18157129</a>] [<a href="https://doi.org/10.1038/ng.2007.45" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18157129">Kornak et al. (2008)</a> identified a nonsense mutation in the ATP6V0A2 gene: 2293C-T, gln765 to stop (Q765X). The mutation occurred in the eighth transmembrane domain of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18157129" 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> rs80356750 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356750;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/rs80356750?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=rs80356750" 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=rs80356750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 Turkish individuals with autosomal recessive cutis laxa type IIA with a congenital disorder of glycosylation type II (CDG II) pattern (ARCL2A; <a href="/entry/219200">219200</a>), <a href="#3" class="mim-tip-reference" title="Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nurnberg, P., Foulquier, F., ARCL Debre-type Study Group, Lefeber, D., Urban, Z., and 9 others. <strong>Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2.</strong> Nature Genet. 40: 32-34, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18157129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18157129</a>] [<a href="https://doi.org/10.1038/ng.2007.45" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18157129">Kornak et al. (2008)</a> identified a nonsense mutation in the ATP6V0A2 gene: 187C-T, arg63 to stop (R63X). The mutation occurred in the cytoplasmic N-terminal domain. One of the patients had been reported by <a href="#5" class="mim-tip-reference" title="Morava, E., Wopereis, S., Coucke, P., Gillessen-Kaesbach, G., Voit, T., Smeitink, J., Wevers, R., Grunewald, S. <strong>Defective protein glycosylation in patients with cutis laxa syndrome.</strong> Europ. J. Hum. Genet. 13: 414-421, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15657616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15657616</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201361" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15657616">Morava et al. (2005)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15657616+18157129" 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> rs80356751 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356751;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/rs80356751?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=rs80356751" 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=rs80356751" 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=RCV000000889 OR RCV000020688" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000889, RCV000020688" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000889...</a>
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<p>In 3 families from Oman, <a href="#3" class="mim-tip-reference" title="Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nurnberg, P., Foulquier, F., ARCL Debre-type Study Group, Lefeber, D., Urban, Z., and 9 others. <strong>Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2.</strong> Nature Genet. 40: 32-34, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18157129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18157129</a>] [<a href="https://doi.org/10.1038/ng.2007.45" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18157129">Kornak et al. (2008)</a> identified a nonsense mutation in the ATP6V0A2 gene in association with wrinkly skin syndrome (WSS; <a href="/entry/278250">278250</a>): 294+1G-A, resulting in frameshift at val66 and premature protein termination (Val66fsTer107). Typical facial dysmorphism and depression in the frontal calvaria due to a large open fontanel as well as skin wrinkling in neck and abdomen were illustrated in one of the patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18157129" 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 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA</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">rs1566294545 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1566294545;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=rs1566294545" 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=rs1566294545" 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=RCV000032647" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032647" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032647</a>
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<p>In an Indian patient with autosomal recessive cutis laxa type IIA (ARCL2A; <a href="/entry/219200">219200</a>), <a href="#1" class="mim-tip-reference" title="Fischer, B., Dimopoulou, A., Egerer, J., Gardeitchik, T., Kidd, A., Jost, D., Kayserili, H., Alanay, Y., Tantcheva-Poor, I., Mangold, E., Daumer-Haas, C., Phadke, S., and 13 others. <strong>Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.</strong> Hum. Genet. 131: 1761-1773, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22773132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22773132</a>] [<a href="https://doi.org/10.1007/s00439-012-1197-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22773132">Fischer et al. (2012)</a> identified homozygosity for a 7-bp deletion in the ATP6V0A2 gene (2355-2361delTGGCGTC) resulting in a frameshift (Tyr785fsTer800). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22773132" 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 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA</strong>
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ATP6V0A2, 1-BP INS, 100A
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032648" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032648" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032648</a>
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<p>In a Turkish patient from a consanguineous family segregating type IIA autosomal recessive cutis laxa type IIA (ARCL2A; <a href="/entry/219200">219200</a>), <a href="#1" class="mim-tip-reference" title="Fischer, B., Dimopoulou, A., Egerer, J., Gardeitchik, T., Kidd, A., Jost, D., Kayserili, H., Alanay, Y., Tantcheva-Poor, I., Mangold, E., Daumer-Haas, C., Phadke, S., and 13 others. <strong>Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.</strong> Hum. Genet. 131: 1761-1773, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22773132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22773132</a>] [<a href="https://doi.org/10.1007/s00439-012-1197-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22773132">Fischer et al. (2012)</a> identified homozygosity for a 1-bp insertion (100_101insA) in the ATP6V0A2 gene resulting in a frameshift (Val476SfsTer499). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22773132" 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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Fischer, B., Dimopoulou, A., Egerer, J., Gardeitchik, T., Kidd, A., Jost, D., Kayserili, H., Alanay, Y., Tantcheva-Poor, I., Mangold, E., Daumer-Haas, C., Phadke, S., and 13 others.
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<strong>Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.</strong>
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Hum. Genet. 131: 1761-1773, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22773132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22773132</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22773132" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-012-1197-8" target="_blank">Full Text</a>]
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Hucthagowder, V., Morava, E., Kornak, U., Lefeber, D. J., Fischer, B., Dimopoulou, A., Aldinger, A., Choi, J., Davis, E. C., Abuelo, D. N., Adamowicz, M., Al-Aama, J., and 14 others.
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<strong>Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.</strong>
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Hum. Molec. Genet. 18: 2149-2165, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19321599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19321599</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19321599[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19321599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddp148" target="_blank">Full Text</a>]
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Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nurnberg, P., Foulquier, F., ARCL Debre-type Study Group, Lefeber, D., Urban, Z., and 9 others.
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<strong>Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2.</strong>
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Nature Genet. 40: 32-34, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18157129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18157129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18157129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.2007.45" target="_blank">Full Text</a>]
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Lee, C., Ghoshal, K., Beaman, K. D.
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<strong>Cloning of a cDNA for a T cell produced molecule with a putative immune regulatory role.</strong>
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Molec. Immun. 27: 1137-1144, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2247090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2247090</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2247090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0161-5890(90)90102-6" target="_blank">Full Text</a>]
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Morava, E., Wopereis, S., Coucke, P., Gillessen-Kaesbach, G., Voit, T., Smeitink, J., Wevers, R., Grunewald, S.
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<strong>Defective protein glycosylation in patients with cutis laxa syndrome.</strong>
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Europ. J. Hum. Genet. 13: 414-421, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15657616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15657616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15657616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201361" target="_blank">Full Text</a>]
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Ntrivalas, E., Gilman-Sachs, A., Kwak-Kim, J., Beaman, K.
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<strong>The N-terminus domain of the a2 isoform of vacuolar ATPase can regulate interleukin-1-beta production from mononuclear cells in co-culture with JEG-3 choriocarcinoma cells.</strong>
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Am. J. Reprod. Immunol. 57: 201-309, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17295899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17295899</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17295899" 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.1600-0897.2006.00463.x" target="_blank">Full Text</a>]
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Smith, A. N., Lovering, R. C., Futai, M., Takeda, J., Brown, D., Karet, F. E.
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<strong>Revised nomenclature for mammalian vacuolar-type H(+)-ATPase subunit genes.</strong>
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Molec. Cell 12: 801-803, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14580332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14580332</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14580332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s1097-2765(03)00397-6" target="_blank">Full Text</a>]
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Nara Sobreira - updated : 01/29/2013
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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George E. Tiller - updated : 3/3/2010<br>Victor A. McKusick - updated : 1/29/2008
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 1/7/2008
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/15/2020
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 04/09/2018<br>carol : 04/29/2017<br>carol : 04/28/2017<br>carol : 01/29/2013<br>alopez : 1/26/2012<br>alopez : 1/24/2012<br>wwang : 3/18/2010<br>terry : 3/3/2010<br>alopez : 6/16/2009<br>alopez : 6/16/2009<br>carol : 5/2/2008<br>carol : 3/20/2008<br>alopez : 2/8/2008<br>terry : 1/29/2008<br>wwang : 1/8/2008<br>wwang : 1/7/2008
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</span>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611716
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2; ATP6V0A2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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A2V-ATPase
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ATP6V0A2</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 238875009, 784381008;
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</span>
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</p>
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<div>
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<br />
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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: 12q24.31
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:123,712,353-123,761,755 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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12q24.31
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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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Cutis laxa, autosomal recessive, type IIA
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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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219200
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Wrinkly skin syndrome
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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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278250
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>The multisubunit vacuolar-type proton pump (H(+)-ATPase or V-ATPase) is essential for acidification of diverse cellular components, including endosomes, lysosomes, clathrin-coated vesicles, secretory vesicles, and chromaffin granules, and it is found at high density in the plasma membrane of certain specialized cells. H(+)-ATPases are composed of a peripheral V(1) domain and an integral membrane V(0) domain; ATP6V0A2 is a component of the V(0) domain (Smith et al., 2003). </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>By screening for secreted immune regulatory proteins, Lee et al. (1990) cloned Atp6v0a2, which they called J6B7, from a mouse helper T cell hybridoma cDNA library. The deduced protein has a hydrophobic N terminus and 3 potential N-glycosylation sites, and it has a calculated molecular mass of 98.0 kD. Northern blot analysis detected abundant expression in the T cell hybridoma cells and in mouse thymus, but not in thymoma, spleen, or liver. </p><p>Using flow cytometry and immunofluorescence microscopy, Ntrivalas et al. (2007) showed that A2V-ATPase was expressed at the cell membrane and intracellularly in the JEG-3 human choriocarcinoma cell line. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lee et al. (1990) found that mouse Atp6v0a2 showed significant suppression of a mixed lymphocyte reaction in a dose-dependent manner. </p><p>Ntrivalas et al. (2007) stated that upon cell stimulation, A2V- ATPase migrates to the cell membrane as a 50-kD molecule and the remaining 20-kD N-terminal domain is secreted into the extracellular environment. The authors showed that secretion of IL1B (147720) was increased and expression of type I and II interleukin receptors IL1R1 (147810) and IL1R2 (147811) were significantly decreased by the A2V-ATPase N-terminal domain in human peripheral blood mononuclear cells cocultured with JEG-3 cells. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<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 homozygosity mapping in 15 consanguineous families, Kornak et al. (2008) identified a critical region for autosomal recessive cutis laxa (219200) on chromosome 12q24 containing the ATP6V0A2 gene. </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>
|
|
</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>Manifestations in cases of autosomal recessive cutis laxa (ARCL) type II (Debre type) (ARCL2A; 219200) and wrinkly skin syndrome (WSS; 278250) include, in addition to excessive congenital skin wrinkling, large fontanel with delayed closure, typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurologic abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. Because an association of a cutis laxa phenotype with a congenital disorder of glycosylation had been described and wrinkly skin observed in an individual with a defect in the conserved oligomeric Golgi (COG) complex involved in Golgi membrane trafficking, Kornak et al. (2008) investigated glycosylation of serum proteins isolated from individuals with ARCL type II. All affected individuals showed a CDG type II (CDG II) pattern, which corresponds to a defect of N-glycosylation at the level of processing in the Golgi apparatus. By homozygosity mapping in 15 consanguineous families, Kornak et al. (2008) identified a homozygous region on chromosome 12q24 with a maximum lod score of 3.2 in 12 families. The products of 9 of the genes in the critical linkage region were part of the Golgi proteome. In 12 families with diagnoses of either autosomal recessive cutis laxa type II or wrinkly skin syndrome, Kornak et al. (2008) identified 10 different loss-of-function mutations in the ATP6V0A2 gene (see, e.g., 611716.0001-611716.0003). Four were splice site mutations, 3 were nonsense, and 3 frameshift; 5 mutations led to a premature stop in the cytoplasmic N terminus, which is thought to mediate interaction with other ATPase subunits, and the other mutations led to truncations in transmembrane segments III, VI, and VIII. The mutations resulted in abnormal glycosylation of serum proteins (CDG II) and caused an impairment of Golgi trafficking in fibroblasts from affected individuals. The results indicated that the alpha-2 subunit of the proton pump has an important role in the Golgi function. </p><p>Hucthagowder et al. (2009) determined the molecular defects in ATP6V0A2 in a cohort of 17 patients with autosomal recessive cutis laxa. Considerable allelic and phenotypic heterogeneity was observed. Abnormal N- and/or mucin type O-glycosylation was observed in all patients tested. </p><p>In 13 patients with ARCL2, Fischer et al. (2012) identified 17 ATP6V0A2 mutations: 1 mutation of the start codon, 3 missense mutations, 3 nonsense mutations, 3 splice site mutations, 3 in-frame deletions, and 4 frameshift mutations; 14 of the mutations were novel. All mutations but 1 were found in homozygous or compound heterozygous state. A heterozygous splice site mutation (117+1delG) was detected at the genomic as well as the cDNA level in a 40-year-old patient (patient 2), but a pronounced nonsense-mediated decay of the ATP6V0A2 mRNA in fibroblasts corroborated an ATP6V0A2-related ARCL2. Fischer et al. (2012) suggested that the second mutation most probably resided in noncoding regions not included in the mutation screening. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Pathogenesis</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Hucthagowder et al. (2009) showed that premature stop codon mutations (see 611716.0001) led to decreased ATP6V0A2 mRNA levels by destabilizing the mutant mRNA via the nonsense-mediated decay pathway. Loss of ATP6V0A2 either by siRNA knockdown or in ARCL2 cells resulted in distended Golgi cisternae, accumulation of abnormal lysosomes and multivesicular bodies. Immunostaining of ARCL2 cells showed the accumulation of tropoelastin (ELN; 130160) in the Golgi and in large, abnormal intracellular and extracellular aggregates. Pulse-chase studies confirmed impaired secretion and increased intracellular retention of ELN, and insoluble elastin assays showed significantly reduced extracellular deposition of mature elastin. Fibrillin-1 (FBN1; 134797) microfibril assembly and secreted lysyl oxidase (LOX; 153455) activity were normal in ARCL2 cells. TUNEL staining demonstrated increased rates of apoptosis in ARCL2 cell cultures. Hucthagowder et al. (2009) concluded that loss-of-function mutations in ATP6V0A2 lead to ELN aggregation in the Golgi, impaired clearance of ELN aggregates, and increased apoptosis of elastogenic cells. </p><p>By immunostaining with an antibody against ATP6V0A2, Fischer et al. (2012) demonstrated localization of ATP6V0A2 at the Golgi-apparatus and a loss of the mutated ATP6V0A2 protein in the dermal fibroblasts of patients with ARCL2A. Investigation of brefeldin A-induced Golgi collapse in dermal fibroblasts as well as in HeLa cells deficient for ATP6V0A2 revealed a delay, which was absent in cells deficient for the ARCL-associated proteins GORAB (607983) and PYCR1 (179035). Furthermore, by detection of P-Smad2, Fischer et al. (2012) demonstrated that fibroblasts from patients with ATP6V0A2 mutations displayed elevated TGF-beta signaling and increased TGFB1 (190180) levels in the supernatant. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>5 Selected Examples):</strong>
|
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</span>
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</h4>
|
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
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<strong>.0001 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ATP6V0A2, GLN765TER
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<br />
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SNP: rs80356758,
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gnomAD: rs80356758,
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ClinVar: RCV000000887, RCV005055499
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Hispanic individual with type IIA autosomal recessive cutis laxa with a congenital disorder of glycosylation type II (CDG II) pattern (ARCL2A; 219200), Kornak et al. (2008) identified a nonsense mutation in the ATP6V0A2 gene: 2293C-T, gln765 to stop (Q765X). The mutation occurred in the eighth transmembrane domain of the protein. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ATP6V0A2, ARG63TER
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<br />
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SNP: rs80356750,
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gnomAD: rs80356750,
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ClinVar: RCV000000888, RCV000790836, RCV003502506, RCV004579513, RCV005007801
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 Turkish individuals with autosomal recessive cutis laxa type IIA with a congenital disorder of glycosylation type II (CDG II) pattern (ARCL2A; 219200), Kornak et al. (2008) identified a nonsense mutation in the ATP6V0A2 gene: 187C-T, arg63 to stop (R63X). The mutation occurred in the cytoplasmic N-terminal domain. One of the patients had been reported by Morava et al. (2005). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 WRINKLY SKIN SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ATP6V0A2, 10132G-A
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<br />
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SNP: rs80356751,
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gnomAD: rs80356751,
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ClinVar: RCV000000889, RCV000020688
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 families from Oman, Kornak et al. (2008) identified a nonsense mutation in the ATP6V0A2 gene in association with wrinkly skin syndrome (WSS; 278250): 294+1G-A, resulting in frameshift at val66 and premature protein termination (Val66fsTer107). Typical facial dysmorphism and depression in the frontal calvaria due to a large open fontanel as well as skin wrinkling in neck and abdomen were illustrated in one of the patients. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ATP6V0A2, 7-BP DEL, NT2355
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<br />
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SNP: rs1566294545,
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ClinVar: RCV000032647
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an Indian patient with autosomal recessive cutis laxa type IIA (ARCL2A; 219200), Fischer et al. (2012) identified homozygosity for a 7-bp deletion in the ATP6V0A2 gene (2355-2361delTGGCGTC) resulting in a frameshift (Tyr785fsTer800). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ATP6V0A2, 1-BP INS, 100A
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<br />
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ClinVar: RCV000032648
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Turkish patient from a consanguineous family segregating type IIA autosomal recessive cutis laxa type IIA (ARCL2A; 219200), Fischer et al. (2012) identified homozygosity for a 1-bp insertion (100_101insA) in the ATP6V0A2 gene resulting in a frameshift (Val476SfsTer499). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>REFERENCES</strong>
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|
</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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|
Fischer, B., Dimopoulou, A., Egerer, J., Gardeitchik, T., Kidd, A., Jost, D., Kayserili, H., Alanay, Y., Tantcheva-Poor, I., Mangold, E., Daumer-Haas, C., Phadke, S., and 13 others.
|
|
<strong>Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.</strong>
|
|
Hum. Genet. 131: 1761-1773, 2012.
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[PubMed: 22773132]
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[Full Text: https://doi.org/10.1007/s00439-012-1197-8]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hucthagowder, V., Morava, E., Kornak, U., Lefeber, D. J., Fischer, B., Dimopoulou, A., Aldinger, A., Choi, J., Davis, E. C., Abuelo, D. N., Adamowicz, M., Al-Aama, J., and 14 others.
|
|
<strong>Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.</strong>
|
|
Hum. Molec. Genet. 18: 2149-2165, 2009.
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[PubMed: 19321599]
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[Full Text: https://doi.org/10.1093/hmg/ddp148]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nurnberg, P., Foulquier, F., ARCL Debre-type Study Group, Lefeber, D., Urban, Z., and 9 others.
|
|
<strong>Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2.</strong>
|
|
Nature Genet. 40: 32-34, 2008.
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|
|
[PubMed: 18157129]
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[Full Text: https://doi.org/10.1038/ng.2007.45]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Lee, C., Ghoshal, K., Beaman, K. D.
|
|
<strong>Cloning of a cDNA for a T cell produced molecule with a putative immune regulatory role.</strong>
|
|
Molec. Immun. 27: 1137-1144, 1990.
|
|
|
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|
|
[PubMed: 2247090]
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[Full Text: https://doi.org/10.1016/0161-5890(90)90102-6]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Morava, E., Wopereis, S., Coucke, P., Gillessen-Kaesbach, G., Voit, T., Smeitink, J., Wevers, R., Grunewald, S.
|
|
<strong>Defective protein glycosylation in patients with cutis laxa syndrome.</strong>
|
|
Europ. J. Hum. Genet. 13: 414-421, 2005.
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|
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[PubMed: 15657616]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201361]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Ntrivalas, E., Gilman-Sachs, A., Kwak-Kim, J., Beaman, K.
|
|
<strong>The N-terminus domain of the a2 isoform of vacuolar ATPase can regulate interleukin-1-beta production from mononuclear cells in co-culture with JEG-3 choriocarcinoma cells.</strong>
|
|
Am. J. Reprod. Immunol. 57: 201-309, 2007.
|
|
|
|
|
|
[PubMed: 17295899]
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[Full Text: https://doi.org/10.1111/j.1600-0897.2006.00463.x]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Smith, A. N., Lovering, R. C., Futai, M., Takeda, J., Brown, D., Karet, F. E.
|
|
<strong>Revised nomenclature for mammalian vacuolar-type H(+)-ATPase subunit genes.</strong>
|
|
Molec. Cell 12: 801-803, 2003.
|
|
|
|
|
|
[PubMed: 14580332]
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[Full Text: https://doi.org/10.1016/s1097-2765(03)00397-6]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
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Nara Sobreira - updated : 01/29/2013<br>George E. Tiller - updated : 3/3/2010<br>Victor A. McKusick - updated : 1/29/2008
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<span class="mim-text-font">
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Patricia A. Hartz : 1/7/2008
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carol : 01/15/2020<br>mgross : 04/09/2018<br>carol : 04/29/2017<br>carol : 04/28/2017<br>carol : 01/29/2013<br>alopez : 1/26/2012<br>alopez : 1/24/2012<br>wwang : 3/18/2010<br>terry : 3/3/2010<br>alopez : 6/16/2009<br>alopez : 6/16/2009<br>carol : 5/2/2008<br>carol : 3/20/2008<br>alopez : 2/8/2008<br>terry : 1/29/2008<br>wwang : 1/8/2008<br>wwang : 1/7/2008
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