3204 lines
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Entry
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- *300774 - RAB39B, MEMBER RAS ONCOGENE FAMILY; RAB39B
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*300774</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300774">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000155961;t=ENST00000369454" 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=116442" 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=300774" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000155961;t=ENST00000369454" 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_171998" 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_171998" 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=300774" 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=06703&isoform_id=06703_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/RAB39B" 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/16307251,21740216,22651417,25188193,27734447,57209093,119593032" 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/Q96DA2" 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=116442" 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=ENSG00000155961;t=ENST00000369454" 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=RAB39B" 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=RAB39B" 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+116442" 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/RAB39B" 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:116442" 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/116442" 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=chrX&hgg_gene=ENST00000369454.4&hgg_start=155258235&hgg_end=155264491&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:16499" 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:16499" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300774[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=300774[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://www.deciphergenomics.org/gene/RAB39B/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000155961" 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=RAB39B" 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=RAB39B" 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=RAB39B" 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="http://www.LOVD.nl/RAB39B" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=RAB39B&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/PA34131" 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:16499" 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/FBgn0029959.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:1915040" 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/RAB39B#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:1915040" 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/116442/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=116442" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00004286;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-061215-104" 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:116442" 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=RAB39B&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> 716107009<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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300774
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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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RAB39B, MEMBER RAS ONCOGENE FAMILY; RAB39B
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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>
|
|
<span class="mim-font">
|
|
RAS-ASSOCIATED PROTEIN RAB39B
|
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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=RAB39B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RAB39B</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>
|
|
Cytogenetic location: <a href="/geneMap/X/886?start=-3&limit=10&highlight=886">Xq28</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:155258235-155264491&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'})">X:155,258,235-155,264,491</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>
|
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<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">
|
|
<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=300271,311510" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
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</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/886?start=-3&limit=10&highlight=886">
|
|
Xq28
|
|
</a>
|
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</span>
|
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</td>
|
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|
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<td>
|
|
<span class="mim-font">
|
|
Intellectual developmental disorder, X-linked 72
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/300271"> 300271 </a>
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Waisman syndrome
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
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|
<a href="/entry/311510"> 311510 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
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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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<p>RAB proteins, such as RAB39B, are small GTPases involved in the regulation of vesicular trafficking between membrane compartments (<a href="#1" class="mim-tip-reference" title="Cheng, H., Ma, Y., Ni, X., Jiang, M., Guo, L., Ying, K., Xie, Y., Mao, Y. <strong>Isolation and characterization of a human novel RAB (RAB39B) gene.</strong> Cytogenet. Genome Res. 97: 72-75, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12438742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12438742</a>] [<a href="https://doi.org/10.1159/000064047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12438742">Cheng et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12438742" 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>During large-scale sequencing of a human fetal brain cDNA library, <a href="#1" class="mim-tip-reference" title="Cheng, H., Ma, Y., Ni, X., Jiang, M., Guo, L., Ying, K., Xie, Y., Mao, Y. <strong>Isolation and characterization of a human novel RAB (RAB39B) gene.</strong> Cytogenet. Genome Res. 97: 72-75, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12438742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12438742</a>] [<a href="https://doi.org/10.1159/000064047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12438742">Cheng et al. (2002)</a> cloned RAB39B. The deduced 213-amino acid protein has a calculated molecular mass of 24 kD. RAB39B contains 4 domains involved in GTP/GDP binding, 5 RabF domains predicted to interact with regulatory proteins, and a C-terminal prenylation motif (xxCxC). Expression of RAB39B in 16 human tissues was below the level of detection by Northern blot analysis, but PCR analysis detected RAB39B in all tissues examined except heart and liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12438742" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Wilson, G. R., Sim, J. C. H., McLean, C., Giannandrea, M., Galea, C. A., Riseley, J. R., Stephenson, S. E. M., Fitzpatrick, E., Haas, S. A., Pope, K., Hogan, K. J., Gregg, R. G., and 21 others. <strong>Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with alpha-synuclein pathology.</strong> Am. J. Hum. Genet. 95: 729-735, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25434005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25434005</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25434005[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.10.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25434005">Wilson et al. (2014)</a> found colocalization of endogenous RAB39B with markers of the vesicular transport pathway, particularly the early endosome, in mouse and human neuroblastoma cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25434005" 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="#1" class="mim-tip-reference" title="Cheng, H., Ma, Y., Ni, X., Jiang, M., Guo, L., Ying, K., Xie, Y., Mao, Y. <strong>Isolation and characterization of a human novel RAB (RAB39B) gene.</strong> Cytogenet. Genome Res. 97: 72-75, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12438742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12438742</a>] [<a href="https://doi.org/10.1159/000064047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12438742">Cheng et al. (2002)</a> determined that the RAB39B gene contains 2 exons and spans about 3.8 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12438742" 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 genomic sequence analysis, <a href="#1" class="mim-tip-reference" title="Cheng, H., Ma, Y., Ni, X., Jiang, M., Guo, L., Ying, K., Xie, Y., Mao, Y. <strong>Isolation and characterization of a human novel RAB (RAB39B) gene.</strong> Cytogenet. Genome Res. 97: 72-75, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12438742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12438742</a>] [<a href="https://doi.org/10.1159/000064047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12438742">Cheng et al. (2002)</a> mapped the RAB39B gene to chromosome Xq28. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12438742" 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="Giannandrea, M., Bianchi, V., Mignogna, M. L., Sirri, A., Carrabino, S., D'Elia, E., Vecellio, M., Russo, S., Cogliati, F., Larizza, L., Ropers, H.-H., Tzschach, A., and 11 others. <strong>Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.</strong> Am. J. Hum. Genet. 86: 185-195, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20159109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20159109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20159109[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.01.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20159109">Giannandrea et al. (2010)</a> demonstrated expression of the RAB39B gene in human and mouse brain, with significantly increased expression during postnatal development and in adults compared to fetuses. The highest expression was in neuronal precursors and neurons in the hippocampus. Studies in mouse cells showed Rab39b localization to the Golgi apparatus and colocalization with markers that cycle from the cell surface to the trans-Golgi network via sorting and recycling endosomes, suggesting a role in vesicular transport. Downregulation of Rab39b gene in mouse primary hippocampal neurons resulted in decreased numbers of growth cones at neurite terminals and decreased numbers of neuronal branches, indicating disorganized growth. Further studies suggested that decreased neurite extension may lead to defective synapse formation or instability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20159109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Vanmarsenille, L., Giannandrea, M., Fieremans, N., Verbeeck, J., Belet, S., Raynaud, M., Vogels, A., Mannik, K., Ounap, K., Jacqueline, V., Briault, S., Van Esch, H., D'Adamo, P., Froyen, G. <strong>Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.</strong> Hum. Mutat. 35: 377-383, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24357492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24357492</a>] [<a href="https://doi.org/10.1002/humu.22497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24357492">Vanmarsenille et al. (2014)</a> demonstrated that overexpression of the Rab39b gene in mouse primary hippocampal neurons resulted in a significant decrease in neuronal branching as well as a decrease in the number of synapses compared to controls. These findings suggested that increased dosage of the RAB39B gene may cause disturbed neuronal development leading to cognitive impairment in humans (see <a href="/entry/300815">300815</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24357492" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Wilson, G. R., Sim, J. C. H., McLean, C., Giannandrea, M., Galea, C. A., Riseley, J. R., Stephenson, S. E. M., Fitzpatrick, E., Haas, S. A., Pope, K., Hogan, K. J., Gregg, R. G., and 21 others. <strong>Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with alpha-synuclein pathology.</strong> Am. J. Hum. Genet. 95: 729-735, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25434005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25434005</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25434005[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.10.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25434005">Wilson et al. (2014)</a> found that mouse hippocampal neurons transduced with short hairpin RNA (shRNA) against Rab39b had 30% lower density of alpha-synuclein (SNCA; <a href="/entry/163890">163890</a>)-immunoreactive puncta in dendritic processes compared to controls. Immunoblot analysis of these cells confirmed a 40% reduction of Rab39b and a 50% reduction of SNCA. The findings suggested that downregulation of RAB39B results in dysregulation of SNCA homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25434005" 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 yeast 2-hybrid assays, <a href="#6" class="mim-tip-reference" title="Mori, Y., Matsui, T., Omote, D., Fukuda, M. <strong>Small GTPase Rab39A interacts with UACA and regulates the retinoic acid-induced neurite morphology of Neuro2A cells.</strong> Biochem. Biophys. Res. Commun. 435: 113-119, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23624502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23624502</a>] [<a href="https://doi.org/10.1016/j.bbrc.2013.04.051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23624502">Mori et al. (2013)</a> identified mouse Uaca (<a href="/entry/612516">612516</a>) as a Rab39a (<a href="/entry/619558">619558</a>)- and Rab39b-binding protein, with the C-terminal coiled-coil domain of Uaca functioning as the binding domain. Immunofluorescence analysis showed that Uaca colocalized with Rab39a or Rab39b in dot-like structures outside of the Golgi when coexpressed in COS-7 cells. In contrast with knockdown of Rab39a in Neuro2A mouse neuroblastoma cells, which altered retinoic acid (RA)-induced neurite morphology, knockdown of Rab39b had no effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23624502" 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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In 2 unrelated families with X-linked intellectual developmental disorder (XLID72; <a href="/entry/300271">300271</a>), <a href="#2" class="mim-tip-reference" title="Giannandrea, M., Bianchi, V., Mignogna, M. L., Sirri, A., Carrabino, S., D'Elia, E., Vecellio, M., Russo, S., Cogliati, F., Larizza, L., Ropers, H.-H., Tzschach, A., and 11 others. <strong>Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.</strong> Am. J. Hum. Genet. 86: 185-195, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20159109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20159109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20159109[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.01.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20159109">Giannandrea et al. (2010)</a> identified 2 different hemizygous mutations in the RAB39B gene (<a href="#0001">300774.0001</a>-<a href="#0002">300774.0002</a>) that segregated with the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20159109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Waisman Syndrome</em></strong></p><p>
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In affected members of the family from Wisconsin with Waisman syndrome (WSMN; <a href="/entry/311510">311510</a>) previously reported by <a href="#3" class="mim-tip-reference" title="Laxova, R., Brown, E. S., Hogan, K., Hecox, K., Opitz, J. M. <strong>An X-linked recessive basal ganglia disorder with mental retardation.</strong> Am. J. Med. Genet. 21: 681-689, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4025396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4025396</a>] [<a href="https://doi.org/10.1002/ajmg.1320210409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4025396">Laxova et al. (1985)</a>, <a href="#9" class="mim-tip-reference" title="Wilson, G. R., Sim, J. C. H., McLean, C., Giannandrea, M., Galea, C. A., Riseley, J. R., Stephenson, S. E. M., Fitzpatrick, E., Haas, S. A., Pope, K., Hogan, K. J., Gregg, R. G., and 21 others. <strong>Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with alpha-synuclein pathology.</strong> Am. J. Hum. Genet. 95: 729-735, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25434005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25434005</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25434005[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.10.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25434005">Wilson et al. (2014)</a> identified a hemizygous missense mutation in the RAB39B gene (T168K; <a href="#0003">300774.0003</a>), resulting in destabilization and increased turnover of the mutant protein, consistent with a loss of function. The disorder was characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease. In vitro cellular studies showed that loss of RAB39B was associated with reduced steady-state levels of alpha-synuclein. <a href="#9" class="mim-tip-reference" title="Wilson, G. R., Sim, J. C. H., McLean, C., Giannandrea, M., Galea, C. A., Riseley, J. R., Stephenson, S. E. M., Fitzpatrick, E., Haas, S. A., Pope, K., Hogan, K. J., Gregg, R. G., and 21 others. <strong>Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with alpha-synuclein pathology.</strong> Am. J. Hum. Genet. 95: 729-735, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25434005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25434005</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25434005[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.10.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25434005">Wilson et al. (2014)</a> concluded that dysregulation of SNCA homeostasis and defects in vesicular trafficking resulted in the manifestations of this neurologic disorder. Mutations in the RAB39B gene were not found in 187 individuals with early-onset Parkinson disease or in 48 males with neurodegeneration with brain iron accumulation (see, e.g., NBIA1, <a href="/entry/234200">234200</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25434005+4025396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Mata, I. F., Jang, Y., Kim, C.-H., Hanna, D. S., Dorschner, M. O., Samii, A., Agarwal, P., Roberts, J. W., Klepitskaya, O., Shprecher, D. R., Chung, K. A., Factor, S. A., and 14 others. <strong>The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.</strong> Molec. Neurodegener. 10: 50, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26399558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26399558</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26399558[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/10.1186/s13024-015-0045-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26399558">Mata et al. (2015)</a> identified a large pedigree segregating X-linked dominant Parkinson disease. The 7 affected individuals comprised 5 males and 2 females; 2 of the 5 males had intellectual disability. All affected individuals carried a missense mutation in the RAB39B gene (G192R; <a href="#0004">300774.0004</a>). Three unaffected females, aged 40, 55, and 86 years, as well as a 41-year-old unaffected male, also carried the mutation. <a href="#5" class="mim-tip-reference" title="Mata, I. F., Jang, Y., Kim, C.-H., Hanna, D. S., Dorschner, M. O., Samii, A., Agarwal, P., Roberts, J. W., Klepitskaya, O., Shprecher, D. R., Chung, K. A., Factor, S. A., and 14 others. <strong>The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.</strong> Molec. Neurodegener. 10: 50, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26399558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26399558</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26399558[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/10.1186/s13024-015-0045-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26399558">Mata et al. (2015)</a> subsequently screened 587 familial Parkinson disease cases and identified 1 missense and 1 in-frame single-nucleotide deletion. These mutations were predicted to be deleterious in silico but could not be assessed in the families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26399558" 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="#10" class="mim-tip-reference" title="Yuan, L., Deng, X., Song, Z., Yang, Z., Ni, B., Chen, Y., Deng, H. <strong>Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease.</strong> Neurobiol. Aging 36: 2907e11, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26163985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26163985</a>] [<a href="https://doi.org/10.1016/j.neurobiolaging.2015.06.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26163985">Yuan et al. (2015)</a> sequenced the RAB39B gene in 502 Han Chinese patients from mainland China and found no pathogenic mutation or variant in the coding regions or intron-exon boundaries of the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26163985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Lochte, T., Bruggemann, N., Vollstedt, A.-J., Krause, P., Domingo, A., Rosales, R., Lee, L. V., Hopfner, F., Westenberger, A., Kuhn, A., Klein, C., Lohmann, K. <strong>RAB39B mutations are a rare finding in Parkinson disease patients.</strong> Parkinsonism Relat. Disord. 23: 116-117, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26739247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26739247</a>] [<a href="https://doi.org/10.1016/j.parkreldis.2015.12.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26739247">Lochte et al. (2016)</a> sequenced the RAB39B gene, including all introns and intron-exon boundaries, in 552 Parkinson disease patients including 330 males. Patients were mostly of German origin but also included 8 Filipinos. Mean age of onset was 50.9 +/- 15.3 years, and family history was positive in 22.2%. None of the pedigrees suggested X-linked inheritance. <a href="#4" class="mim-tip-reference" title="Lochte, T., Bruggemann, N., Vollstedt, A.-J., Krause, P., Domingo, A., Rosales, R., Lee, L. V., Hopfner, F., Westenberger, A., Kuhn, A., Klein, C., Lohmann, K. <strong>RAB39B mutations are a rare finding in Parkinson disease patients.</strong> Parkinsonism Relat. Disord. 23: 116-117, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26739247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26739247</a>] [<a href="https://doi.org/10.1016/j.parkreldis.2015.12.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26739247">Lochte et al. (2016)</a> also sequenced 91 Filipinos with X-linked dystonia-parkinsonism (XDP; <a href="/entry/314250">314250</a>), 8 Filipinos with XDP phenotype who did not carry the XDP haplotype, and 186 German controls for variants in RAB39B. They identified 3 variants (1 synonymous, 2 intronic), for which evidence for pathogenicity was inconclusive. Noting that their findings combined with those of <a href="#10" class="mim-tip-reference" title="Yuan, L., Deng, X., Song, Z., Yang, Z., Ni, B., Chen, Y., Deng, H. <strong>Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease.</strong> Neurobiol. Aging 36: 2907e11, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26163985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26163985</a>] [<a href="https://doi.org/10.1016/j.neurobiolaging.2015.06.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26163985">Yuan et al. (2015)</a> showed no convincing mutation in RAB39B in more than 1,000 Parkinson disease patients, <a href="#4" class="mim-tip-reference" title="Lochte, T., Bruggemann, N., Vollstedt, A.-J., Krause, P., Domingo, A., Rosales, R., Lee, L. V., Hopfner, F., Westenberger, A., Kuhn, A., Klein, C., Lohmann, K. <strong>RAB39B mutations are a rare finding in Parkinson disease patients.</strong> Parkinsonism Relat. Disord. 23: 116-117, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26739247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26739247</a>] [<a href="https://doi.org/10.1016/j.parkreldis.2015.12.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26739247">Lochte et al. (2016)</a> concluded that RAB38B mutations in classic Parkinson disease patients without intellectual disability and without clear X-linked inheritance are rare and do not need to be included in genetic testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26739247+26163985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a family with X-linked intellectual developmental disorder-72 (XLID72; <a href="/entry/300271">300271</a>) reported by <a href="#7" class="mim-tip-reference" title="Russo, S., Cogliati, F., Cavalleri, F., Cassitto, M. G., Giglioli, R., Toniolo, D., Casari, G., Larizza, L. <strong>Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family.</strong> Am. J. Med. Genet. 94: 376-382, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11050621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11050621</a>] [<a href="https://doi.org/10.1002/1096-8628(20001023)94:5<376::aid-ajmg6>3.0.co;2-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11050621">Russo et al. (2000)</a>, <a href="#2" class="mim-tip-reference" title="Giannandrea, M., Bianchi, V., Mignogna, M. L., Sirri, A., Carrabino, S., D'Elia, E., Vecellio, M., Russo, S., Cogliati, F., Larizza, L., Ropers, H.-H., Tzschach, A., and 11 others. <strong>Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.</strong> Am. J. Hum. Genet. 86: 185-195, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20159109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20159109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20159109[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.01.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20159109">Giannandrea et al. (2010)</a> identified a G-to-A transition in the 5-prime splice junction of intron 1 of the RAB39B gene. Immunoblotting of HeLa cells transfected with the mutant cDNA did not detect any mutant protein, consistent with a loss of function. The mutation was not found in 150 control chromosomes. In addition to mental retardation, 3 affected individuals had seizures and 1 had autism spectrum disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11050621+20159109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a family with X-linked intellectual developmental disorder-72 (XLID72; <a href="/entry/300271">300271</a>), <a href="#2" class="mim-tip-reference" title="Giannandrea, M., Bianchi, V., Mignogna, M. L., Sirri, A., Carrabino, S., D'Elia, E., Vecellio, M., Russo, S., Cogliati, F., Larizza, L., Ropers, H.-H., Tzschach, A., and 11 others. <strong>Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.</strong> Am. J. Hum. Genet. 86: 185-195, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20159109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20159109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20159109[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.01.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20159109">Giannandrea et al. (2010)</a> identified a 21C-A transversion in the RAB39B gene, resulting in a tyr7-to-ter (Y7X) substitution. Immunoblotting of HeLa cells transfected with the mutant cDNA did not detect any mutant protein, consistent with a loss of function. The mutation was not found in 150 control chromosomes. In addition to mental retardation, all 6 affected males had macrocephaly, 1 had obesity, and 2 had autism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20159109" 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">rs587777874 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777874;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=rs587777874" 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=rs587777874" 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=RCV000144685 OR RCV000150034" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144685, RCV000150034" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144685...</a>
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<p>In affected members of a family from Wisconsin with Waisman syndrome (WSMN; <a href="/entry/311510">311510</a>), previously reported by <a href="#3" class="mim-tip-reference" title="Laxova, R., Brown, E. S., Hogan, K., Hecox, K., Opitz, J. M. <strong>An X-linked recessive basal ganglia disorder with mental retardation.</strong> Am. J. Med. Genet. 21: 681-689, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4025396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4025396</a>] [<a href="https://doi.org/10.1002/ajmg.1320210409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4025396">Laxova et al. (1985)</a>, <a href="#9" class="mim-tip-reference" title="Wilson, G. R., Sim, J. C. H., McLean, C., Giannandrea, M., Galea, C. A., Riseley, J. R., Stephenson, S. E. M., Fitzpatrick, E., Haas, S. A., Pope, K., Hogan, K. J., Gregg, R. G., and 21 others. <strong>Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with alpha-synuclein pathology.</strong> Am. J. Hum. Genet. 95: 729-735, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25434005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25434005</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25434005[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.10.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25434005">Wilson et al. (2014)</a> identified a hemizygous c.503C-A transversion in the RAB39B gene, resulting in a thr168-to-lys (T168K) substitution at a conserved residue. The mutation, which was found by direct sequencing of the RAB39B gene, segregated with the disorder in the family. It was not present in the dbSNP (build 137) or Exome Sequencing Project (ESP6500) databases or in 200 control individuals. Expression of the mutation in neuroblastoma cells resulted in low levels of the mutant protein due to rapid turnover, suggesting that the altered protein is destabilized and that the mutation causes a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25434005+4025396" 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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RAB39B, GLY192ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs864309527 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864309527;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=rs864309527" 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=rs864309527" 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=RCV000202604 OR RCV000207511" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000202604, RCV000207511" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000202604...</a>
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<p><a href="#5" class="mim-tip-reference" title="Mata, I. F., Jang, Y., Kim, C.-H., Hanna, D. S., Dorschner, M. O., Samii, A., Agarwal, P., Roberts, J. W., Klepitskaya, O., Shprecher, D. R., Chung, K. A., Factor, S. A., and 14 others. <strong>The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.</strong> Molec. Neurodegener. 10: 50, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26399558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26399558</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26399558[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/10.1186/s13024-015-0045-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26399558">Mata et al. (2015)</a> reported a large US family of European origin in which 7 individuals, 5 males and 2 females, were affected with Parkinson disease; 2 of the males also had mild intellectual disability (WSMN; <a href="/entry/311510">311510</a>). Affected individuals had a G-to-A substitution at nucleotide c.574 of the RAB39B gene (c.574G-A, NM_171998.2) resulting in a glycine-to-arginine substitution at codon 192 (G192R). This variant was also found in 3 unaffected females, aged 40, 55, and 86 years, and in an unaffected male, aged 41 years. Among affected individuals, Parkinson disease with classic features had onset at ages 55 and 57 years in the females and between ages 29 and 53 years in the males. Functional studies showed that the mutation resulted in mislocalization of the RAB39B protein, with significantly reduced localization of mutant protein to the plasma membrane compared to wildtype. As the G192R mutation occurs in the hypervariable C-terminal domain (HVD), which mediates intracellular targeting, <a href="#5" class="mim-tip-reference" title="Mata, I. F., Jang, Y., Kim, C.-H., Hanna, D. S., Dorschner, M. O., Samii, A., Agarwal, P., Roberts, J. W., Klepitskaya, O., Shprecher, D. R., Chung, K. A., Factor, S. A., and 14 others. <strong>The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.</strong> Molec. Neurodegener. 10: 50, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26399558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26399558</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26399558[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/10.1186/s13024-015-0045-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26399558">Mata et al. (2015)</a> suggested that the mutation may disrupt targeting by inhibiting binding to effector molecules. This variant was not identified among 87,725 X chromosomes in the ExAC database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26399558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Cheng2002" class="mim-anchor"></a>
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Cheng, H., Ma, Y., Ni, X., Jiang, M., Guo, L., Ying, K., Xie, Y., Mao, Y.
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<strong>Isolation and characterization of a human novel RAB (RAB39B) gene.</strong>
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Cytogenet. Genome Res. 97: 72-75, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12438742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12438742</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12438742" 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/10.1159/000064047" target="_blank">Full Text</a>]
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Giannandrea, M., Bianchi, V., Mignogna, M. L., Sirri, A., Carrabino, S., D'Elia, E., Vecellio, M., Russo, S., Cogliati, F., Larizza, L., Ropers, H.-H., Tzschach, A., and 11 others.
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<strong>Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.</strong>
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Am. J. Hum. Genet. 86: 185-195, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20159109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20159109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20159109[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=20159109" 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/j.ajhg.2010.01.011" target="_blank">Full Text</a>]
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<a id="Laxova1985" class="mim-anchor"></a>
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Laxova, R., Brown, E. S., Hogan, K., Hecox, K., Opitz, J. M.
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<strong>An X-linked recessive basal ganglia disorder with mental retardation.</strong>
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Am. J. Med. Genet. 21: 681-689, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4025396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4025396</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4025396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320210409" target="_blank">Full Text</a>]
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Lochte, T., Bruggemann, N., Vollstedt, A.-J., Krause, P., Domingo, A., Rosales, R., Lee, L. V., Hopfner, F., Westenberger, A., Kuhn, A., Klein, C., Lohmann, K.
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<strong>RAB39B mutations are a rare finding in Parkinson disease patients.</strong>
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Parkinsonism Relat. Disord. 23: 116-117, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26739247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26739247</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26739247" 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/j.parkreldis.2015.12.014" target="_blank">Full Text</a>]
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<a id="Mata2015" class="mim-anchor"></a>
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Mata, I. F., Jang, Y., Kim, C.-H., Hanna, D. S., Dorschner, M. O., Samii, A., Agarwal, P., Roberts, J. W., Klepitskaya, O., Shprecher, D. R., Chung, K. A., Factor, S. A., and 14 others.
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<strong>The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.</strong>
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Molec. Neurodegener. 10: 50, 2015. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26399558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26399558</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26399558[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=26399558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1186/s13024-015-0045-4" target="_blank">Full Text</a>]
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Mori, Y., Matsui, T., Omote, D., Fukuda, M.
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<strong>Small GTPase Rab39A interacts with UACA and regulates the retinoic acid-induced neurite morphology of Neuro2A cells.</strong>
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Biochem. Biophys. Res. Commun. 435: 113-119, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23624502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23624502</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23624502" 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/j.bbrc.2013.04.051" target="_blank">Full Text</a>]
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<a id="Russo2000" class="mim-anchor"></a>
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Russo, S., Cogliati, F., Cavalleri, F., Cassitto, M. G., Giglioli, R., Toniolo, D., Casari, G., Larizza, L.
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<strong>Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family.</strong>
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Am. J. Med. Genet. 94: 376-382, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11050621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11050621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11050621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1096-8628(20001023)94:5<376::aid-ajmg6>3.0.co;2-a" target="_blank">Full Text</a>]
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<a id="Vanmarsenille2014" class="mim-anchor"></a>
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Vanmarsenille, L., Giannandrea, M., Fieremans, N., Verbeeck, J., Belet, S., Raynaud, M., Vogels, A., Mannik, K., Ounap, K., Jacqueline, V., Briault, S., Van Esch, H., D'Adamo, P., Froyen, G.
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<strong>Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.</strong>
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Hum. Mutat. 35: 377-383, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24357492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24357492</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24357492" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.22497" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Wilson2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilson, G. R., Sim, J. C. H., McLean, C., Giannandrea, M., Galea, C. A., Riseley, J. R., Stephenson, S. E. M., Fitzpatrick, E., Haas, S. A., Pope, K., Hogan, K. J., Gregg, R. G., and 21 others.
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<strong>Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with alpha-synuclein pathology.</strong>
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Am. J. Hum. Genet. 95: 729-735, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25434005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25434005</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25434005[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=25434005" 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/j.ajhg.2014.10.015" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Yuan2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yuan, L., Deng, X., Song, Z., Yang, Z., Ni, B., Chen, Y., Deng, H.
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<strong>Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease.</strong>
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Neurobiol. Aging 36: 2907e11, 2015. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26163985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26163985</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26163985" 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/j.neurobiolaging.2015.06.019" target="_blank">Full Text</a>]
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</p>
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</ol>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<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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Bao Lige - updated : 10/01/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 2/18/2016<br>Cassandra L. Kniffin - updated : 1/20/2015<br>Cassandra L. Kniffin - updated : 3/12/2014<br>Cassandra L. Kniffin - updated : 3/23/2010
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</span>
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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 : 6/3/2009
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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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<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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mgross : 10/01/2021
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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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carol : 08/21/2021<br>carol : 08/20/2021<br>carol : 10/11/2019<br>carol : 02/19/2016<br>alopez : 2/18/2016<br>carol : 1/21/2015<br>mcolton : 1/21/2015<br>ckniffin : 1/20/2015<br>alopez : 3/20/2014<br>ckniffin : 3/12/2014<br>carol : 3/24/2010<br>ckniffin : 3/23/2010<br>mgross : 6/3/2009
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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>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 300774
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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RAB39B, MEMBER RAS ONCOGENE FAMILY; RAB39B
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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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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RAS-ASSOCIATED PROTEIN RAB39B
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</h4>
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</div>
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<div>
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<br />
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: RAB39B</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> 716107009;
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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: Xq28
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Genomic coordinates <span class="small">(GRCh38)</span> : X:155,258,235-155,264,491 </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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<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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<td rowspan="2">
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<span class="mim-font">
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Xq28
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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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Intellectual developmental disorder, X-linked 72
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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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300271
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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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X-linked 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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<span class="mim-font">
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Waisman 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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311510
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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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X-linked 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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<br />
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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>RAB proteins, such as RAB39B, are small GTPases involved in the regulation of vesicular trafficking between membrane compartments (Cheng et al., 2002). </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>During large-scale sequencing of a human fetal brain cDNA library, Cheng et al. (2002) cloned RAB39B. The deduced 213-amino acid protein has a calculated molecular mass of 24 kD. RAB39B contains 4 domains involved in GTP/GDP binding, 5 RabF domains predicted to interact with regulatory proteins, and a C-terminal prenylation motif (xxCxC). Expression of RAB39B in 16 human tissues was below the level of detection by Northern blot analysis, but PCR analysis detected RAB39B in all tissues examined except heart and liver. </p><p>Wilson et al. (2014) found colocalization of endogenous RAB39B with markers of the vesicular transport pathway, particularly the early endosome, in mouse and human neuroblastoma cells. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cheng et al. (2002) determined that the RAB39B gene contains 2 exons and spans about 3.8 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>By genomic sequence analysis, Cheng et al. (2002) mapped the RAB39B gene to chromosome Xq28. </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>Giannandrea et al. (2010) demonstrated expression of the RAB39B gene in human and mouse brain, with significantly increased expression during postnatal development and in adults compared to fetuses. The highest expression was in neuronal precursors and neurons in the hippocampus. Studies in mouse cells showed Rab39b localization to the Golgi apparatus and colocalization with markers that cycle from the cell surface to the trans-Golgi network via sorting and recycling endosomes, suggesting a role in vesicular transport. Downregulation of Rab39b gene in mouse primary hippocampal neurons resulted in decreased numbers of growth cones at neurite terminals and decreased numbers of neuronal branches, indicating disorganized growth. Further studies suggested that decreased neurite extension may lead to defective synapse formation or instability. </p><p>Vanmarsenille et al. (2014) demonstrated that overexpression of the Rab39b gene in mouse primary hippocampal neurons resulted in a significant decrease in neuronal branching as well as a decrease in the number of synapses compared to controls. These findings suggested that increased dosage of the RAB39B gene may cause disturbed neuronal development leading to cognitive impairment in humans (see 300815). </p><p>Wilson et al. (2014) found that mouse hippocampal neurons transduced with short hairpin RNA (shRNA) against Rab39b had 30% lower density of alpha-synuclein (SNCA; 163890)-immunoreactive puncta in dendritic processes compared to controls. Immunoblot analysis of these cells confirmed a 40% reduction of Rab39b and a 50% reduction of SNCA. The findings suggested that downregulation of RAB39B results in dysregulation of SNCA homeostasis. </p><p>Using yeast 2-hybrid assays, Mori et al. (2013) identified mouse Uaca (612516) as a Rab39a (619558)- and Rab39b-binding protein, with the C-terminal coiled-coil domain of Uaca functioning as the binding domain. Immunofluorescence analysis showed that Uaca colocalized with Rab39a or Rab39b in dot-like structures outside of the Golgi when coexpressed in COS-7 cells. In contrast with knockdown of Rab39a in Neuro2A mouse neuroblastoma cells, which altered retinoic acid (RA)-induced neurite morphology, knockdown of Rab39b had no effect. </p>
|
|
</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p><strong><em>X-Linked Intellectual Developmental Disorder 72</em></strong></p><p>
|
|
In 2 unrelated families with X-linked intellectual developmental disorder (XLID72; 300271), Giannandrea et al. (2010) identified 2 different hemizygous mutations in the RAB39B gene (300774.0001-300774.0002) that segregated with the disorder. </p><p><strong><em>Waisman Syndrome</em></strong></p><p>
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In affected members of the family from Wisconsin with Waisman syndrome (WSMN; 311510) previously reported by Laxova et al. (1985), Wilson et al. (2014) identified a hemizygous missense mutation in the RAB39B gene (T168K; 300774.0003), resulting in destabilization and increased turnover of the mutant protein, consistent with a loss of function. The disorder was characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease. In vitro cellular studies showed that loss of RAB39B was associated with reduced steady-state levels of alpha-synuclein. Wilson et al. (2014) concluded that dysregulation of SNCA homeostasis and defects in vesicular trafficking resulted in the manifestations of this neurologic disorder. Mutations in the RAB39B gene were not found in 187 individuals with early-onset Parkinson disease or in 48 males with neurodegeneration with brain iron accumulation (see, e.g., NBIA1, 234200). </p><p>Mata et al. (2015) identified a large pedigree segregating X-linked dominant Parkinson disease. The 7 affected individuals comprised 5 males and 2 females; 2 of the 5 males had intellectual disability. All affected individuals carried a missense mutation in the RAB39B gene (G192R; 300774.0004). Three unaffected females, aged 40, 55, and 86 years, as well as a 41-year-old unaffected male, also carried the mutation. Mata et al. (2015) subsequently screened 587 familial Parkinson disease cases and identified 1 missense and 1 in-frame single-nucleotide deletion. These mutations were predicted to be deleterious in silico but could not be assessed in the families. </p><p>Yuan et al. (2015) sequenced the RAB39B gene in 502 Han Chinese patients from mainland China and found no pathogenic mutation or variant in the coding regions or intron-exon boundaries of the gene. </p><p>Lochte et al. (2016) sequenced the RAB39B gene, including all introns and intron-exon boundaries, in 552 Parkinson disease patients including 330 males. Patients were mostly of German origin but also included 8 Filipinos. Mean age of onset was 50.9 +/- 15.3 years, and family history was positive in 22.2%. None of the pedigrees suggested X-linked inheritance. Lochte et al. (2016) also sequenced 91 Filipinos with X-linked dystonia-parkinsonism (XDP; 314250), 8 Filipinos with XDP phenotype who did not carry the XDP haplotype, and 186 German controls for variants in RAB39B. They identified 3 variants (1 synonymous, 2 intronic), for which evidence for pathogenicity was inconclusive. Noting that their findings combined with those of Yuan et al. (2015) showed no convincing mutation in RAB39B in more than 1,000 Parkinson disease patients, Lochte et al. (2016) concluded that RAB38B mutations in classic Parkinson disease patients without intellectual disability and without clear X-linked inheritance are rare and do not need to be included in genetic testing. </p>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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<strong>4 Selected Examples):</strong>
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<strong>.0001 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 72</strong>
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RAB39B, IVS1DS, G-A, +1
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SNP: rs587776734,
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ClinVar: RCV000011288
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<p>In affected members of a family with X-linked intellectual developmental disorder-72 (XLID72; 300271) reported by Russo et al. (2000), Giannandrea et al. (2010) identified a G-to-A transition in the 5-prime splice junction of intron 1 of the RAB39B gene. Immunoblotting of HeLa cells transfected with the mutant cDNA did not detect any mutant protein, consistent with a loss of function. The mutation was not found in 150 control chromosomes. In addition to mental retardation, 3 affected individuals had seizures and 1 had autism spectrum disorder. </p>
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<span class="mim-font">
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<strong>.0002 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 72</strong>
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RAB39B, TYR7TER
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<br />
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SNP: rs267606995,
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ClinVar: RCV000011289
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<p>In affected members of a family with X-linked intellectual developmental disorder-72 (XLID72; 300271), Giannandrea et al. (2010) identified a 21C-A transversion in the RAB39B gene, resulting in a tyr7-to-ter (Y7X) substitution. Immunoblotting of HeLa cells transfected with the mutant cDNA did not detect any mutant protein, consistent with a loss of function. The mutation was not found in 150 control chromosomes. In addition to mental retardation, all 6 affected males had macrocephaly, 1 had obesity, and 2 had autism. </p>
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<span class="mim-font">
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<strong>.0003 WAISMAN SYNDROME</strong>
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RAB39B, THR168LYS
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SNP: rs587777874,
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ClinVar: RCV000144685, RCV000150034
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<p>In affected members of a family from Wisconsin with Waisman syndrome (WSMN; 311510), previously reported by Laxova et al. (1985), Wilson et al. (2014) identified a hemizygous c.503C-A transversion in the RAB39B gene, resulting in a thr168-to-lys (T168K) substitution at a conserved residue. The mutation, which was found by direct sequencing of the RAB39B gene, segregated with the disorder in the family. It was not present in the dbSNP (build 137) or Exome Sequencing Project (ESP6500) databases or in 200 control individuals. Expression of the mutation in neuroblastoma cells resulted in low levels of the mutant protein due to rapid turnover, suggesting that the altered protein is destabilized and that the mutation causes a loss of function. </p>
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<span class="mim-font">
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<strong>.0004 WAISMAN SYNDROME</strong>
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<span class="mim-text-font">
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RAB39B, GLY192ARG
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<br />
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SNP: rs864309527,
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ClinVar: RCV000202604, RCV000207511
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<span class="mim-text-font">
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<p>Mata et al. (2015) reported a large US family of European origin in which 7 individuals, 5 males and 2 females, were affected with Parkinson disease; 2 of the males also had mild intellectual disability (WSMN; 311510). Affected individuals had a G-to-A substitution at nucleotide c.574 of the RAB39B gene (c.574G-A, NM_171998.2) resulting in a glycine-to-arginine substitution at codon 192 (G192R). This variant was also found in 3 unaffected females, aged 40, 55, and 86 years, and in an unaffected male, aged 41 years. Among affected individuals, Parkinson disease with classic features had onset at ages 55 and 57 years in the females and between ages 29 and 53 years in the males. Functional studies showed that the mutation resulted in mislocalization of the RAB39B protein, with significantly reduced localization of mutant protein to the plasma membrane compared to wildtype. As the G192R mutation occurs in the hypervariable C-terminal domain (HVD), which mediates intracellular targeting, Mata et al. (2015) suggested that the mutation may disrupt targeting by inhibiting binding to effector molecules. This variant was not identified among 87,725 X chromosomes in the ExAC database. </p>
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</span>
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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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Cheng, H., Ma, Y., Ni, X., Jiang, M., Guo, L., Ying, K., Xie, Y., Mao, Y.
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<strong>Isolation and characterization of a human novel RAB (RAB39B) gene.</strong>
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Cytogenet. Genome Res. 97: 72-75, 2002.
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[PubMed: 12438742]
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[Full Text: https://doi.org/10.1159/000064047]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Giannandrea, M., Bianchi, V., Mignogna, M. L., Sirri, A., Carrabino, S., D'Elia, E., Vecellio, M., Russo, S., Cogliati, F., Larizza, L., Ropers, H.-H., Tzschach, A., and 11 others.
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<strong>Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.</strong>
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Am. J. Hum. Genet. 86: 185-195, 2010.
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[PubMed: 20159109]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.01.011]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Laxova, R., Brown, E. S., Hogan, K., Hecox, K., Opitz, J. M.
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<strong>An X-linked recessive basal ganglia disorder with mental retardation.</strong>
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Am. J. Med. Genet. 21: 681-689, 1985.
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[PubMed: 4025396]
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[Full Text: https://doi.org/10.1002/ajmg.1320210409]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lochte, T., Bruggemann, N., Vollstedt, A.-J., Krause, P., Domingo, A., Rosales, R., Lee, L. V., Hopfner, F., Westenberger, A., Kuhn, A., Klein, C., Lohmann, K.
|
|
<strong>RAB39B mutations are a rare finding in Parkinson disease patients.</strong>
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Parkinsonism Relat. Disord. 23: 116-117, 2016.
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[PubMed: 26739247]
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[Full Text: https://doi.org/10.1016/j.parkreldis.2015.12.014]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mata, I. F., Jang, Y., Kim, C.-H., Hanna, D. S., Dorschner, M. O., Samii, A., Agarwal, P., Roberts, J. W., Klepitskaya, O., Shprecher, D. R., Chung, K. A., Factor, S. A., and 14 others.
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<strong>The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.</strong>
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Molec. Neurodegener. 10: 50, 2015. Note: Electronic Article.
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[PubMed: 26399558]
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[Full Text: https://doi.org/10.1186/s13024-015-0045-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mori, Y., Matsui, T., Omote, D., Fukuda, M.
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<strong>Small GTPase Rab39A interacts with UACA and regulates the retinoic acid-induced neurite morphology of Neuro2A cells.</strong>
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Biochem. Biophys. Res. Commun. 435: 113-119, 2013.
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[PubMed: 23624502]
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[Full Text: https://doi.org/10.1016/j.bbrc.2013.04.051]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Russo, S., Cogliati, F., Cavalleri, F., Cassitto, M. G., Giglioli, R., Toniolo, D., Casari, G., Larizza, L.
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<strong>Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family.</strong>
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Am. J. Med. Genet. 94: 376-382, 2000.
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[PubMed: 11050621]
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[Full Text: https://doi.org/10.1002/1096-8628(20001023)94:5<376::aid-ajmg6>3.0.co;2-a]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Vanmarsenille, L., Giannandrea, M., Fieremans, N., Verbeeck, J., Belet, S., Raynaud, M., Vogels, A., Mannik, K., Ounap, K., Jacqueline, V., Briault, S., Van Esch, H., D'Adamo, P., Froyen, G.
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<strong>Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.</strong>
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Hum. Mutat. 35: 377-383, 2014.
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[PubMed: 24357492]
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[Full Text: https://doi.org/10.1002/humu.22497]
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</li>
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<li>
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<p class="mim-text-font">
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Wilson, G. R., Sim, J. C. H., McLean, C., Giannandrea, M., Galea, C. A., Riseley, J. R., Stephenson, S. E. M., Fitzpatrick, E., Haas, S. A., Pope, K., Hogan, K. J., Gregg, R. G., and 21 others.
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<strong>Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with alpha-synuclein pathology.</strong>
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Am. J. Hum. Genet. 95: 729-735, 2014.
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[PubMed: 25434005]
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[Full Text: https://doi.org/10.1016/j.ajhg.2014.10.015]
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Yuan, L., Deng, X., Song, Z., Yang, Z., Ni, B., Chen, Y., Deng, H.
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<strong>Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease.</strong>
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Neurobiol. Aging 36: 2907e11, 2015. Note: Electronic Article.
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[PubMed: 26163985]
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[Full Text: https://doi.org/10.1016/j.neurobiolaging.2015.06.019]
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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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Bao Lige - updated : 10/01/2021<br>Ada Hamosh - updated : 2/18/2016<br>Cassandra L. Kniffin - updated : 1/20/2015<br>Cassandra L. Kniffin - updated : 3/12/2014<br>Cassandra L. Kniffin - updated : 3/23/2010
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<span class="mim-text-font">
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Patricia A. Hartz : 6/3/2009
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mgross : 10/01/2021<br>carol : 08/21/2021<br>carol : 08/20/2021<br>carol : 10/11/2019<br>carol : 02/19/2016<br>alopez : 2/18/2016<br>carol : 1/21/2015<br>mcolton : 1/21/2015<br>ckniffin : 1/20/2015<br>alopez : 3/20/2014<br>ckniffin : 3/12/2014<br>carol : 3/24/2010<br>ckniffin : 3/23/2010<br>mgross : 6/3/2009
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