3156 lines
222 KiB
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3156 lines
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Entry
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- *619109 - YIP1-INTERACTING FACTOR HOMOLOG B, MEMBRANE-TRAFFICKING PROTEIN; YIF1B
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<p>
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<span class="h4">*619109</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/619109">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</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 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=ENSG00000167645;t=ENST00000339413" 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=90522" 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=619109" 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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</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=ENSG00000167645;t=ENST00000339413" 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_001039671,NM_001039672,NM_001039673,NM_001145461,NM_001145462,NM_001145463,XM_047439647,XM_047439648" 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_001039672" 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=619109" 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://www.proteinatlas.org/search/YIF1B" 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/10440181,10834702,14043299,15929032,19263656,37183048,57997186,73909160,89191845,89191848,89191850,119577175,119577176,119577177,119577178,121944384,221045040,224451034,224451038,224451040,2217323753,2217323755,2462568546" 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/Q5BJH7" 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=90522" 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=ENSG00000167645;t=ENST00000339413" 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=YIF1B" 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=YIF1B" 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+90522" 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/YIF1B" 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:90522" 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/90522" 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=chr19&hgg_gene=ENST00000339413.11&hgg_start=38303558&hgg_end=38321887&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/genes/HGNC:30511" 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=619109[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=619109[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000167645" 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=YIF1B" 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=YIF1B" 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=YIF1B" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=YIF1B&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/PA142670561" 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:30511" 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://www.mousephenotype.org/data/genes/MGI:1924504" 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/YIF1B#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:1924504" 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/90522/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=90522" 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=WBGene00010178;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>
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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://reactome.org/content/query?q=YIF1B&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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619109
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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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YIP1-INTERACTING FACTOR HOMOLOG B, MEMBRANE-TRAFFICKING PROTEIN; YIF1B
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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YIP1-INTERACTING FACTOR, S. CEREVISIAE, HOMOLOG OF, B
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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=YIF1B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">YIF1B</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/19/641?start=-3&limit=10&highlight=641">19q13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:38303558-38321887&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'})">19:38,303,558-38,321,887</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/19/641?start=-3&limit=10&highlight=641">
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19q13.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Kaya-Barakat-Masson 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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<a href="/entry/619125"> 619125 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/619109" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/619109" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>YIF1B belongs to the FinGER protein family and is involved in endoplasmic reticulum (ER)-to-Golgi trafficking (<a href="#5" class="mim-tip-reference" title="Graab, P., Bock, C., Weiss, K., Hirth, A., Koller, N., Braner, M., Jung, J., Loehr, F., Tampe, R., Behrends, C., Abele, R. <strong>Lysosomal targeting of the ABC transporter TAPL is determined by membrane-localized charged residues.</strong> J. Biol. Chem. 294: 7308-7323, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30877195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30877195</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30877195[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.RA118.007071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30877195">Graab et al., 2019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30877195" 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="#3" class="mim-tip-reference" title="Carrel, D., Masson, J., Al Awabdh, S., Borg Capra, C., Lenkei, Z., Hamon, M., Emerit, M. B., Darmon, M. <strong>Targeting of the 5-HT-1A serotonin receptor to neuronal dendrites is mediated by Yif1B.</strong> J. Neurosci. 28: 8063-8073, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18685031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18685031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18685031[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/10.1523/JNEUROSCI.4487-07.2008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18685031">Carrel et al. (2008)</a> cloned Yif1b from a rat hippocampus cDNA library. Bioinformatic analysis predicted that the 311-amino acid rat protein localizes to the Golgi membrane, with 5 transmembrane segments clustered in its C-terminal moiety, a long hydrophilic N-terminal domain within the cytoplasm, and a short C terminus turned to the ER lumen. Yif1b is well conserved across species, sharing 28%, 76%, 76%, and 89% amino acid identity with its orthologs from yeast, Xenopus, mouse, and human, respectively. Northern blot analysis detected Yif1b expression in a wide range of rat tissues, with high abundance in brain. Western blot analysis confirmed that the expression pattern of Yif1b protein correlated with that of its transcripts in all tissues. In rat brain, Yif1b was expressed in serotoninergic neurons in the dorsal raphe nucleus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18685031" 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 immunofluorescence analysis of transfected HeLa cells and rat hippocampal neurons, <a href="#2" class="mim-tip-reference" title="Alterio, J., Masson, J., Diaz, J., Chachlaki, K., Salman, H., Areias, J., Al Awabdh, S., Emerit, M. B., Darmon, M. <strong>Yif1B is involved in the anterograde traffic pathway and the Golgi architecture.</strong> Traffic 16: 978-993, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26077767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26077767</a>] [<a href="https://doi.org/10.1111/tra.12306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26077767">Alterio et al. (2015)</a> showed that rat Yif1b localized to a vesicular compartment that shuttled between the ER, the intermediate compartment, and the Golgi apparatus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26077767" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 11/24/2020."None>Gross (2020)</a> mapped the YIF1B gene to chromosome 19q13.2 based on an alignment of the YIF1B sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC014974" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC014974</a>) with the genomic sequence (GRCh38).</p>
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<p>Using yeast 2-hybrid and pull-down assays, <a href="#3" class="mim-tip-reference" title="Carrel, D., Masson, J., Al Awabdh, S., Borg Capra, C., Lenkei, Z., Hamon, M., Emerit, M. B., Darmon, M. <strong>Targeting of the 5-HT-1A serotonin receptor to neuronal dendrites is mediated by Yif1B.</strong> J. Neurosci. 28: 8063-8073, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18685031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18685031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18685031[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/10.1523/JNEUROSCI.4487-07.2008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18685031">Carrel et al. (2008)</a> demonstrated that rat Yif1b interacted directly with the C terminus of rat 5-Ht1ar (HTR1A; <a href="/entry/109760">109760</a>). Immunofluorescence analysis revealed that Yif1b colocalized with 5-Ht1ar in vesicles of the intermediate compartment in transfected COS-7 and LLC-PK1 cells. Knockdown experiment showed that Yif1b mediated targeting of 5-Ht1ar to neuronal dendrites and that this targeting required direct interaction between the C terminus of 5-Ht1ar and Yif1b. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18685031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Alterio, J., Masson, J., Diaz, J., Chachlaki, K., Salman, H., Areias, J., Al Awabdh, S., Emerit, M. B., Darmon, M. <strong>Yif1B is involved in the anterograde traffic pathway and the Golgi architecture.</strong> Traffic 16: 978-993, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26077767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26077767</a>] [<a href="https://doi.org/10.1111/tra.12306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26077767">Alterio et al. (2015)</a> found that knockdown of YIF1B in HeLa cells accelerated vesicular stomatitis virus G protein (VSVG) anterograde traffic without causing ER stress and without preventing its glycosylation process through the Golgi. Likewise, VSVG anterograde traffic was accelerated in hippocampal neurons from Yif1b -/- mice. However, YIF1B inhibition in HeLa cells did not influence retrograde traffic of the B fragment of Shiga toxin. Electron microscopy revealed that long-term depletion of Yif1b resulted in disorganized Golgi architecture in CA1 pyramidal hippocampal neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26077767" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By immunoprecipitation analysis in human cells, <a href="#5" class="mim-tip-reference" title="Graab, P., Bock, C., Weiss, K., Hirth, A., Koller, N., Braner, M., Jung, J., Loehr, F., Tampe, R., Behrends, C., Abele, R. <strong>Lysosomal targeting of the ABC transporter TAPL is determined by membrane-localized charged residues.</strong> J. Biol. Chem. 294: 7308-7323, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30877195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30877195</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30877195[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.RA118.007071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30877195">Graab et al. (2019)</a> showed that the transmembrane domain of YIF1B interacted with the 4 N-terminal transmembrane helices of ABCB9 (<a href="/entry/605453">605453</a>), which are essential ABCB9 lysosomal targeting. Functional characterization revealed that YIF1B was involved in lysosomal targeting of ABCB9, but that it was not an essential factor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30877195" 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 6 patients from 5 unrelated families with Kaya-Barakat-Masson syndrome (KABAMAS; <a href="/entry/619125">619125</a>), <a href="#1" class="mim-tip-reference" title="AlMuhaizea, M., AlMass, R., AlHargan, A., AlBader, A., Salsench, E. M., Howaidi, J., Ihinger, J., Karachunski, P., Begtrup, A., Castell, M. S., Bauer, P., Bertoli-Avella, A., Kaya, I. H., AlSufayan, J., AlQuait, L., Chedrawi, A., Arold, S. T., Colak, D., Barakat, T. S., Kaya, N. <strong>Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.</strong> Acta Neuropath 139: 791-794, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32006098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32006098</a>] [<a href="https://doi.org/10.1007/s00401-020-02128-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32006098">AlMuhaizea et al. (2020)</a> identified homozygous loss-of-function mutations in the YIF1B gene (<a href="#0001">619109.0001</a>-<a href="/entry/609109#0003">609109.0003</a>). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families that could be studied. None were present in the gnomAD database. Functional studies of the variants were not performed, but all were predicted to result in a complete loss of protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32006098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 10 patients from 6 unrelated families with KABAMAS, <a href="#4" class="mim-tip-reference" title="Diaz, J., Gerard, X., Emerit, M.-B., Areias, J., Geny, D., Degardin, J., Simonutti, M., Guerquin, M.-J., Collin, T., Viollet, C., Billard, J.-M., Metin, C., and 23 others. <strong>YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.</strong> Brain 143: 2911-2928, 2020. Note: Erratum: Brain 144: e40, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33103737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33103737</a>] [<a href="https://doi.org/10.1093/brain/awaa235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33103737">Diaz et al. (2020)</a> identified homozygous or compound heterozygous mutations in the YIF1B gene (see, e.g., <a href="#0001">619109.0001</a>, <a href="#0003">619109.0003</a>-<a href="#0006">619109.0006</a>). The patients, who originated from various countries, including France, Saudi Arabia, Iran, Canada, and Italy, were ascertained through the GeneMatcher database after whole-exome sequencing identified biallelic YIF1B mutations. All mutations were splice site, nonsense, or frameshift, except for 1 missense mutation (<a href="#0005">619109.0005</a>) in 2 sibs in family 4, which was associated with a slightly less severe phenotype. Most mutations were predicted to lack all or most of the transmembrane domains, and Western blot analysis of some of the mutations showed absent or decreased YIF1B protein levels, consistent with a loss of function. Patient-derived fibroblasts showed reduced and shortened cilia compared to controls, suggesting ciliary anchoring defects (see ANIMAL MODEL). These findings, together with mouse studies, implicated several cellular processes that were disrupted by the YIF1B mutation, collectively resulting in a neurodevelopmental disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33103737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Medico Salsench, E., Maroofian, R., Deng, R., Lanko, K., Nikoncuk, A., Perez, B., Sanchez-Lijarcio, O., Ibanez-Mico, S., Wojcik, A., Vargas, M., Abbas Al-Sannaa, N., Girgis, M. Y., and 24 others. <strong>Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.</strong> Brain 144: e85, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34373908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34373908</a>] [<a href="https://doi.org/10.1093/brain/awab297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34373908">Medico Salsench et al. (2021)</a> described 8 new patients with KABAMAS due to biallelic mutations in the YIF1B gene and reviewed the literature on previously reported cases. Among the total of 24 patients from 19 families, 18 mutations (75%) were truncating or whole gene deletion mutations and 6 (25%) were missense mutations that changed highly conserved residues. All of the missense mutations were located in or close to the transmembrane domains and were not present in gnomAD, except for 1 which was found once in heterozygous state. Introduction of the missense mutations into a YIF1B expression plasmid did not result in significantly reduced YIF1B protein levels. The ability to meet limited developmental milestones (e.g., head control, independent sitting, limited speech) was seen only in patients with missense mutations, suggesting that residual YIF1B activity is present in these patients, consistent with in vitro data. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34373908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Diaz, J., Gerard, X., Emerit, M.-B., Areias, J., Geny, D., Degardin, J., Simonutti, M., Guerquin, M.-J., Collin, T., Viollet, C., Billard, J.-M., Metin, C., and 23 others. <strong>YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.</strong> Brain 143: 2911-2928, 2020. Note: Erratum: Brain 144: e40, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33103737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33103737</a>] [<a href="https://doi.org/10.1093/brain/awaa235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33103737">Diaz et al. (2020)</a> found that knockdown of the Yif1b gene in mice did not cause ventilatory defects or increased susceptibility to seizures, although mutant mice showed impaired visual perception associated with retinal dysfunction and optic atrophy. Basal locomotion was normal, but there were some deficits in fine motor skills and coordination. Mutant mice had delayed cerebral myelination, enlarged ventricles, and cerebellar atrophy associated with a reduction in the number of Purkinje cells due to neurodegeneration and necrosis rather than apoptosis. There were disorganized dendritic trees and the presence of microglia cells. Electron microscopic studies of Purkinje cells showed abnormal fragmentation of the Golgi apparatus, large autophagosome-like vacuoles, and aberrant configuration of the ER with dilated cisterns compared to controls. Male Yif1b-null mice were infertile due to abnormal spermatozoa flagella which showed microtubule disorganization. Ciliary abnormalities were also observed in cerebellar Purkinje cells, hippocampal pyramidal cells, and fibroblasts. These findings, together with the human results, suggested that YIF1B is essential not only for Golgi and ER morphology and function, but also for primary ciliary integrity. Loss of YIF1B function leads to altered myelination, neuronal death, Golgi, ER, and ciliary defects with pathology related to disrupted trafficking of proteins, ultimately resulting in neurodevelopmental abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33103737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=619109[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1969221767 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1969221767;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=rs1969221767" 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=rs1969221767" 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=RCV001266143 OR RCV001270687" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001266143, RCV001270687" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001266143...</a>
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<p>In 4 female patients from 3 unrelated families of Arab descent (families 1, 2, and 3), with Kaya-Barakat-Masson syndrome (KABAMAS; <a href="/entry/619125">619125</a>), <a href="#1" class="mim-tip-reference" title="AlMuhaizea, M., AlMass, R., AlHargan, A., AlBader, A., Salsench, E. M., Howaidi, J., Ihinger, J., Karachunski, P., Begtrup, A., Castell, M. S., Bauer, P., Bertoli-Avella, A., Kaya, I. H., AlSufayan, J., AlQuait, L., Chedrawi, A., Arold, S. T., Colak, D., Barakat, T. S., Kaya, N. <strong>Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.</strong> Acta Neuropath 139: 791-794, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32006098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32006098</a>] [<a href="https://doi.org/10.1007/s00401-020-02128-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32006098">AlMuhaizea et al. (2020)</a> identified a homozygous 1-bp duplication (c.186dupT, NM_001039872.2) in the YIF1B gene, resulting in a frameshift and premature termination (Ala64fs). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. The variant was not present in the gnomAD database. Haplotype analysis suggested a founder effect. Functional studies of the variant were not performed, but the variant was predicted to result in a complete loss of protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32006098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sisters, born of consanguineous Saudi Arabian parents (family 3), with KABAMAS, <a href="#4" class="mim-tip-reference" title="Diaz, J., Gerard, X., Emerit, M.-B., Areias, J., Geny, D., Degardin, J., Simonutti, M., Guerquin, M.-J., Collin, T., Viollet, C., Billard, J.-M., Metin, C., and 23 others. <strong>YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.</strong> Brain 143: 2911-2928, 2020. Note: Erratum: Brain 144: e40, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33103737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33103737</a>] [<a href="https://doi.org/10.1093/brain/awaa235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33103737">Diaz et al. (2020)</a> identified a homozygous c.186dup mutation (c.186dup, NM_001039872.2) in the YIF1B gene, resulting in a frameshift and premature termination (Ala63CysfsTer18). The mutation, which was found by exome sequencing, was predicted to result in a loss of function. (In the article by <a href="#4" class="mim-tip-reference" title="Diaz, J., Gerard, X., Emerit, M.-B., Areias, J., Geny, D., Degardin, J., Simonutti, M., Guerquin, M.-J., Collin, T., Viollet, C., Billard, J.-M., Metin, C., and 23 others. <strong>YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.</strong> Brain 143: 2911-2928, 2020. Note: Erratum: Brain 144: e40, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33103737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33103737</a>] [<a href="https://doi.org/10.1093/brain/awaa235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33103737">Diaz et al. (2020)</a>, the protein change is cited as Ala63CysfsTer18 in table S1, but as Ala60CysfsTer18 in the text.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33103737" 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">rs1969205933 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1969205933;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=rs1969205933" 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=rs1969205933" 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=RCV001270684" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001270684" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001270684</a>
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<p>In a boy, born of consanguineous parents (family 4), with Kaya-Barakat-Masson syndrome (KABAMAS; <a href="/entry/619125">619125</a>), <a href="#1" class="mim-tip-reference" title="AlMuhaizea, M., AlMass, R., AlHargan, A., AlBader, A., Salsench, E. M., Howaidi, J., Ihinger, J., Karachunski, P., Begtrup, A., Castell, M. S., Bauer, P., Bertoli-Avella, A., Kaya, I. H., AlSufayan, J., AlQuait, L., Chedrawi, A., Arold, S. T., Colak, D., Barakat, T. S., Kaya, N. <strong>Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.</strong> Acta Neuropath 139: 791-794, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32006098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32006098</a>] [<a href="https://doi.org/10.1007/s00401-020-02128-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32006098">AlMuhaizea et al. (2020)</a> identified a homozygous 4-bp insertion (c.360_361insACAT, NM_001039672.3) in the YIF1B gene, resulting in a frameshift and premature termination (Gly121fs). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. Segregation studies of the family were not possible. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32006098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs750308729 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs750308729;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs750308729?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs750308729" 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=rs750308729" 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=RCV001270685 OR RCV001557245" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001270685, RCV001557245" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001270685...</a>
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<p>In a 7-year-old girl, born of consanguineous Somali parents (family 5), with Kaya-Barakat-Masson syndrome (KABAMAS; <a href="/entry/619125">619125</a>), <a href="#1" class="mim-tip-reference" title="AlMuhaizea, M., AlMass, R., AlHargan, A., AlBader, A., Salsench, E. M., Howaidi, J., Ihinger, J., Karachunski, P., Begtrup, A., Castell, M. S., Bauer, P., Bertoli-Avella, A., Kaya, I. H., AlSufayan, J., AlQuait, L., Chedrawi, A., Arold, S. T., Colak, D., Barakat, T. S., Kaya, N. <strong>Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.</strong> Acta Neuropath 139: 791-794, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32006098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32006098</a>] [<a href="https://doi.org/10.1007/s00401-020-02128-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32006098">AlMuhaizea et al. (2020)</a> identified a homozygous c.598G-T transversion (c.598G-T, NM_001039672.2) in the YIF1B gene, resulting in a glu200-to-ter (E200X) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the gnomAD database. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32006098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 brothers with KABAMAS from a Somali family, <a href="#4" class="mim-tip-reference" title="Diaz, J., Gerard, X., Emerit, M.-B., Areias, J., Geny, D., Degardin, J., Simonutti, M., Guerquin, M.-J., Collin, T., Viollet, C., Billard, J.-M., Metin, C., and 23 others. <strong>YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.</strong> Brain 143: 2911-2928, 2020. Note: Erratum: Brain 144: e40, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33103737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33103737</a>] [<a href="https://doi.org/10.1093/brain/awaa235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33103737">Diaz et al. (2020)</a> identified homozygosity for the E200X mutation in the YIF1B gene. The mutation, which was identified by whole-exome sequencing, segregated with the disorder in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33103737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs564705275 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs564705275;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs564705275?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs564705275" 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=rs564705275" 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=RCV001270686 OR RCV002269356" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001270686, RCV002269356" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001270686...</a>
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<p>In 2 brothers, born of French parents from the same village (family 2), with Kaya-Barakat-Masson syndrome (KABAMAS; <a href="/entry/619125">619125</a>), <a href="#4" class="mim-tip-reference" title="Diaz, J., Gerard, X., Emerit, M.-B., Areias, J., Geny, D., Degardin, J., Simonutti, M., Guerquin, M.-J., Collin, T., Viollet, C., Billard, J.-M., Metin, C., and 23 others. <strong>YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.</strong> Brain 143: 2911-2928, 2020. Note: Erratum: Brain 144: e40, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33103737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33103737</a>] [<a href="https://doi.org/10.1093/brain/awaa235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33103737">Diaz et al. (2020)</a> identified a homozygous G-to-A transition (c.539+1G-A, NM_001039672.2) in intron 5 of the YIF1B gene, resulting in a splice site defect. The mutation was found by exome sequencing. Analysis of patient cells showed that the mutation resulted in the skipping of exon 5, causing a frameshift and premature termination (Ala161GlyfsTer18), which was predicted to result in a loss of function. Another patient with the disorder (family 5) carried the Ala161GlyfsTer18 mutation and a c.696-2A-C transversion (<a href="#0006">619109.0006</a>) in the YIF1B gene on the other allele, resulting in a frameshift and premature termination (Met233PhefsTer40). These mutations segregated with the disorder in the family. Western blot analysis of patient cells showed absence of the full-length YIF1B protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33103737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 KAYA-BARAKAT-MASSON SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1969205627 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1969205627;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=rs1969205627" 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=rs1969205627" 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=RCV001266143 OR RCV001270687 OR RCV001270688" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001266143, RCV001270687, RCV001270688" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001266143...</a>
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<p>In 2 adult sibs, born of consanguineous Iranian parents (family 4), with Kaya-Barakat-Masson syndrome (KABAMAS; <a href="/entry/619125">619125</a>), <a href="#4" class="mim-tip-reference" title="Diaz, J., Gerard, X., Emerit, M.-B., Areias, J., Geny, D., Degardin, J., Simonutti, M., Guerquin, M.-J., Collin, T., Viollet, C., Billard, J.-M., Metin, C., and 23 others. <strong>YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.</strong> Brain 143: 2911-2928, 2020. Note: Erratum: Brain 144: e40, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33103737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33103737</a>] [<a href="https://doi.org/10.1093/brain/awaa235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33103737">Diaz et al. (2020)</a> identified a homozygous c.367A-C transversion (c.367A-C, NM_001039672.2) in the YIF1B gene, resulting in a lys123-to-gln (K123Q) substitution at a highly conserved residue. The mutation was found by exome sequencing. Analysis of patient cells showed decreased YIF1B levels compared to controls, suggesting a loss of function, although functional studies were not performed. The patients had a slightly less severe phenotype with ability to walk in the first decade and some language achieved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33103737" 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>.0006 KAYA-BARAKAT-MASSON SYNDROME</strong>
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YIF1B, c.696-2A-C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1969106432 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1969106432;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=rs1969106432" 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=rs1969106432" 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=RCV001270689" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001270689" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001270689</a>
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<p>For discussion of the c.696-2A-C transversion (c.696-2A-C, NM_001039672.2) in the YIF1B gene, resulting in a frameshift and premature termination (Met233PhefsTer40), that was found in compound heterozygous state in a patient with Kaya-Barakat-Masson syndrome (KABAMAS; <a href="/entry/619125">619125</a>) by <a href="#4" class="mim-tip-reference" title="Diaz, J., Gerard, X., Emerit, M.-B., Areias, J., Geny, D., Degardin, J., Simonutti, M., Guerquin, M.-J., Collin, T., Viollet, C., Billard, J.-M., Metin, C., and 23 others. <strong>YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.</strong> Brain 143: 2911-2928, 2020. Note: Erratum: Brain 144: e40, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33103737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33103737</a>] [<a href="https://doi.org/10.1093/brain/awaa235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33103737">Diaz et al. (2020)</a>, see <a href="#0004">619109.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33103737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</h4>
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<a id="1" class="mim-anchor"></a>
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<a id="AlMuhaizea2020" class="mim-anchor"></a>
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<div class="">
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AlMuhaizea, M., AlMass, R., AlHargan, A., AlBader, A., Salsench, E. M., Howaidi, J., Ihinger, J., Karachunski, P., Begtrup, A., Castell, M. S., Bauer, P., Bertoli-Avella, A., Kaya, I. H., AlSufayan, J., AlQuait, L., Chedrawi, A., Arold, S. T., Colak, D., Barakat, T. S., Kaya, N.
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<strong>Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.</strong>
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Acta Neuropath 139: 791-794, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32006098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32006098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32006098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00401-020-02128-8" target="_blank">Full Text</a>]
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<a id="Alterio2015" class="mim-anchor"></a>
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Alterio, J., Masson, J., Diaz, J., Chachlaki, K., Salman, H., Areias, J., Al Awabdh, S., Emerit, M. B., Darmon, M.
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<strong>Yif1B is involved in the anterograde traffic pathway and the Golgi architecture.</strong>
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Traffic 16: 978-993, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26077767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26077767</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26077767" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/tra.12306" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Carrel2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Carrel, D., Masson, J., Al Awabdh, S., Borg Capra, C., Lenkei, Z., Hamon, M., Emerit, M. B., Darmon, M.
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<strong>Targeting of the 5-HT-1A serotonin receptor to neuronal dendrites is mediated by Yif1B.</strong>
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J. Neurosci. 28: 8063-8073, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18685031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18685031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18685031[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=18685031" 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/10.1523/JNEUROSCI.4487-07.2008" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Diaz2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Diaz, J., Gerard, X., Emerit, M.-B., Areias, J., Geny, D., Degardin, J., Simonutti, M., Guerquin, M.-J., Collin, T., Viollet, C., Billard, J.-M., Metin, C., and 23 others.
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<strong>YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.</strong>
|
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Brain 143: 2911-2928, 2020. Note: Erratum: Brain 144: e40, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33103737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33103737</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33103737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/awaa235" target="_blank">Full Text</a>]
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<a id="Graab2019" class="mim-anchor"></a>
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Graab, P., Bock, C., Weiss, K., Hirth, A., Koller, N., Braner, M., Jung, J., Loehr, F., Tampe, R., Behrends, C., Abele, R.
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<strong>Lysosomal targeting of the ABC transporter TAPL is determined by membrane-localized charged residues.</strong>
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J. Biol. Chem. 294: 7308-7323, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30877195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30877195</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30877195[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=30877195" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.RA118.007071" target="_blank">Full Text</a>]
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<a id="Gross2020" class="mim-anchor"></a>
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/24/2020.
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<a id="7" class="mim-anchor"></a>
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<a id="Medico Salsench2021" class="mim-anchor"></a>
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<div class="">
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Medico Salsench, E., Maroofian, R., Deng, R., Lanko, K., Nikoncuk, A., Perez, B., Sanchez-Lijarcio, O., Ibanez-Mico, S., Wojcik, A., Vargas, M., Abbas Al-Sannaa, N., Girgis, M. Y., and 24 others.
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<strong>Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.</strong>
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Brain 144: e85, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34373908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34373908</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34373908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/awab297" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 07/20/2022
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Cassandra L. Kniffin - updated : 12/14/2020<br>Matthew B. Gross - updated : 11/24/2020
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Bao Lige : 11/24/2020
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carol : 07/26/2022
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alopez : 07/20/2022<br>carol : 06/01/2021<br>mgross : 12/21/2020<br>carol : 12/21/2020<br>carol : 12/18/2020<br>carol : 12/17/2020<br>ckniffin : 12/14/2020<br>mgross : 11/24/2020
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 619109
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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YIP1-INTERACTING FACTOR HOMOLOG B, MEMBRANE-TRAFFICKING PROTEIN; YIF1B
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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YIP1-INTERACTING FACTOR, S. CEREVISIAE, HOMOLOG OF, B
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</span>
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</h4>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: YIF1B</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 19q13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 19:38,303,558-38,321,887 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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19q13.2
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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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Kaya-Barakat-Masson 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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619125
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<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>YIF1B belongs to the FinGER protein family and is involved in endoplasmic reticulum (ER)-to-Golgi trafficking (Graab et al., 2019). </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>Carrel et al. (2008) cloned Yif1b from a rat hippocampus cDNA library. Bioinformatic analysis predicted that the 311-amino acid rat protein localizes to the Golgi membrane, with 5 transmembrane segments clustered in its C-terminal moiety, a long hydrophilic N-terminal domain within the cytoplasm, and a short C terminus turned to the ER lumen. Yif1b is well conserved across species, sharing 28%, 76%, 76%, and 89% amino acid identity with its orthologs from yeast, Xenopus, mouse, and human, respectively. Northern blot analysis detected Yif1b expression in a wide range of rat tissues, with high abundance in brain. Western blot analysis confirmed that the expression pattern of Yif1b protein correlated with that of its transcripts in all tissues. In rat brain, Yif1b was expressed in serotoninergic neurons in the dorsal raphe nucleus. </p><p>Using immunofluorescence analysis of transfected HeLa cells and rat hippocampal neurons, Alterio et al. (2015) showed that rat Yif1b localized to a vesicular compartment that shuttled between the ER, the intermediate compartment, and the Golgi apparatus. </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>Gross (2020) mapped the YIF1B gene to chromosome 19q13.2 based on an alignment of the YIF1B sequence (GenBank BC014974) with the genomic sequence (GRCh38).</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>Using yeast 2-hybrid and pull-down assays, Carrel et al. (2008) demonstrated that rat Yif1b interacted directly with the C terminus of rat 5-Ht1ar (HTR1A; 109760). Immunofluorescence analysis revealed that Yif1b colocalized with 5-Ht1ar in vesicles of the intermediate compartment in transfected COS-7 and LLC-PK1 cells. Knockdown experiment showed that Yif1b mediated targeting of 5-Ht1ar to neuronal dendrites and that this targeting required direct interaction between the C terminus of 5-Ht1ar and Yif1b. </p><p>Alterio et al. (2015) found that knockdown of YIF1B in HeLa cells accelerated vesicular stomatitis virus G protein (VSVG) anterograde traffic without causing ER stress and without preventing its glycosylation process through the Golgi. Likewise, VSVG anterograde traffic was accelerated in hippocampal neurons from Yif1b -/- mice. However, YIF1B inhibition in HeLa cells did not influence retrograde traffic of the B fragment of Shiga toxin. Electron microscopy revealed that long-term depletion of Yif1b resulted in disorganized Golgi architecture in CA1 pyramidal hippocampal neurons. </p><p>By immunoprecipitation analysis in human cells, Graab et al. (2019) showed that the transmembrane domain of YIF1B interacted with the 4 N-terminal transmembrane helices of ABCB9 (605453), which are essential ABCB9 lysosomal targeting. Functional characterization revealed that YIF1B was involved in lysosomal targeting of ABCB9, but that it was not an essential factor. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 6 patients from 5 unrelated families with Kaya-Barakat-Masson syndrome (KABAMAS; 619125), AlMuhaizea et al. (2020) identified homozygous loss-of-function mutations in the YIF1B gene (619109.0001-609109.0003). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families that could be studied. None were present in the gnomAD database. Functional studies of the variants were not performed, but all were predicted to result in a complete loss of protein function. </p><p>In 10 patients from 6 unrelated families with KABAMAS, Diaz et al. (2020) identified homozygous or compound heterozygous mutations in the YIF1B gene (see, e.g., 619109.0001, 619109.0003-619109.0006). The patients, who originated from various countries, including France, Saudi Arabia, Iran, Canada, and Italy, were ascertained through the GeneMatcher database after whole-exome sequencing identified biallelic YIF1B mutations. All mutations were splice site, nonsense, or frameshift, except for 1 missense mutation (619109.0005) in 2 sibs in family 4, which was associated with a slightly less severe phenotype. Most mutations were predicted to lack all or most of the transmembrane domains, and Western blot analysis of some of the mutations showed absent or decreased YIF1B protein levels, consistent with a loss of function. Patient-derived fibroblasts showed reduced and shortened cilia compared to controls, suggesting ciliary anchoring defects (see ANIMAL MODEL). These findings, together with mouse studies, implicated several cellular processes that were disrupted by the YIF1B mutation, collectively resulting in a neurodevelopmental disorder. </p><p>Medico Salsench et al. (2021) described 8 new patients with KABAMAS due to biallelic mutations in the YIF1B gene and reviewed the literature on previously reported cases. Among the total of 24 patients from 19 families, 18 mutations (75%) were truncating or whole gene deletion mutations and 6 (25%) were missense mutations that changed highly conserved residues. All of the missense mutations were located in or close to the transmembrane domains and were not present in gnomAD, except for 1 which was found once in heterozygous state. Introduction of the missense mutations into a YIF1B expression plasmid did not result in significantly reduced YIF1B protein levels. The ability to meet limited developmental milestones (e.g., head control, independent sitting, limited speech) was seen only in patients with missense mutations, suggesting that residual YIF1B activity is present in these patients, consistent with in vitro data. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Diaz et al. (2020) found that knockdown of the Yif1b gene in mice did not cause ventilatory defects or increased susceptibility to seizures, although mutant mice showed impaired visual perception associated with retinal dysfunction and optic atrophy. Basal locomotion was normal, but there were some deficits in fine motor skills and coordination. Mutant mice had delayed cerebral myelination, enlarged ventricles, and cerebellar atrophy associated with a reduction in the number of Purkinje cells due to neurodegeneration and necrosis rather than apoptosis. There were disorganized dendritic trees and the presence of microglia cells. Electron microscopic studies of Purkinje cells showed abnormal fragmentation of the Golgi apparatus, large autophagosome-like vacuoles, and aberrant configuration of the ER with dilated cisterns compared to controls. Male Yif1b-null mice were infertile due to abnormal spermatozoa flagella which showed microtubule disorganization. Ciliary abnormalities were also observed in cerebellar Purkinje cells, hippocampal pyramidal cells, and fibroblasts. These findings, together with the human results, suggested that YIF1B is essential not only for Golgi and ER morphology and function, but also for primary ciliary integrity. Loss of YIF1B function leads to altered myelination, neuronal death, Golgi, ER, and ciliary defects with pathology related to disrupted trafficking of proteins, ultimately resulting in neurodevelopmental abnormalities. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0001 KAYA-BARAKAT-MASSON SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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YIF1B, 1-BP DUP, 186T
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<br />
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SNP: rs1969221767,
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ClinVar: RCV001266143, RCV001270687
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 4 female patients from 3 unrelated families of Arab descent (families 1, 2, and 3), with Kaya-Barakat-Masson syndrome (KABAMAS; 619125), AlMuhaizea et al. (2020) identified a homozygous 1-bp duplication (c.186dupT, NM_001039872.2) in the YIF1B gene, resulting in a frameshift and premature termination (Ala64fs). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. The variant was not present in the gnomAD database. Haplotype analysis suggested a founder effect. Functional studies of the variant were not performed, but the variant was predicted to result in a complete loss of protein function. </p><p>In 2 sisters, born of consanguineous Saudi Arabian parents (family 3), with KABAMAS, Diaz et al. (2020) identified a homozygous c.186dup mutation (c.186dup, NM_001039872.2) in the YIF1B gene, resulting in a frameshift and premature termination (Ala63CysfsTer18). The mutation, which was found by exome sequencing, was predicted to result in a loss of function. (In the article by Diaz et al. (2020), the protein change is cited as Ala63CysfsTer18 in table S1, but as Ala60CysfsTer18 in the text.) </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 KAYA-BARAKAT-MASSON SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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YIF1B, 4-BP INS, 360ACAT
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<br />
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SNP: rs1969205933,
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ClinVar: RCV001270684
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a boy, born of consanguineous parents (family 4), with Kaya-Barakat-Masson syndrome (KABAMAS; 619125), AlMuhaizea et al. (2020) identified a homozygous 4-bp insertion (c.360_361insACAT, NM_001039672.3) in the YIF1B gene, resulting in a frameshift and premature termination (Gly121fs). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. Segregation studies of the family were not possible. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 KAYA-BARAKAT-MASSON SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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YIF1B, GLU200TER
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<br />
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SNP: rs750308729,
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gnomAD: rs750308729,
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ClinVar: RCV001270685, RCV001557245
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 7-year-old girl, born of consanguineous Somali parents (family 5), with Kaya-Barakat-Masson syndrome (KABAMAS; 619125), AlMuhaizea et al. (2020) identified a homozygous c.598G-T transversion (c.598G-T, NM_001039672.2) in the YIF1B gene, resulting in a glu200-to-ter (E200X) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the gnomAD database. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in a loss of function. </p><p>In 2 brothers with KABAMAS from a Somali family, Diaz et al. (2020) identified homozygosity for the E200X mutation in the YIF1B gene. The mutation, which was identified by whole-exome sequencing, segregated with the disorder in the family. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 KAYA-BARAKAT-MASSON SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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YIF1B, IVS5DS, G-A, +1
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<br />
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SNP: rs564705275,
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gnomAD: rs564705275,
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ClinVar: RCV001270686, RCV002269356
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 brothers, born of French parents from the same village (family 2), with Kaya-Barakat-Masson syndrome (KABAMAS; 619125), Diaz et al. (2020) identified a homozygous G-to-A transition (c.539+1G-A, NM_001039672.2) in intron 5 of the YIF1B gene, resulting in a splice site defect. The mutation was found by exome sequencing. Analysis of patient cells showed that the mutation resulted in the skipping of exon 5, causing a frameshift and premature termination (Ala161GlyfsTer18), which was predicted to result in a loss of function. Another patient with the disorder (family 5) carried the Ala161GlyfsTer18 mutation and a c.696-2A-C transversion (619109.0006) in the YIF1B gene on the other allele, resulting in a frameshift and premature termination (Met233PhefsTer40). These mutations segregated with the disorder in the family. Western blot analysis of patient cells showed absence of the full-length YIF1B protein. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 KAYA-BARAKAT-MASSON SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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YIF1B, LYS123GLN
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<br />
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SNP: rs1969205627,
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ClinVar: RCV001266143, RCV001270687, RCV001270688
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 adult sibs, born of consanguineous Iranian parents (family 4), with Kaya-Barakat-Masson syndrome (KABAMAS; 619125), Diaz et al. (2020) identified a homozygous c.367A-C transversion (c.367A-C, NM_001039672.2) in the YIF1B gene, resulting in a lys123-to-gln (K123Q) substitution at a highly conserved residue. The mutation was found by exome sequencing. Analysis of patient cells showed decreased YIF1B levels compared to controls, suggesting a loss of function, although functional studies were not performed. The patients had a slightly less severe phenotype with ability to walk in the first decade and some language achieved. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 KAYA-BARAKAT-MASSON SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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YIF1B, c.696-2A-C
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<br />
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SNP: rs1969106432,
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ClinVar: RCV001270689
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the c.696-2A-C transversion (c.696-2A-C, NM_001039672.2) in the YIF1B gene, resulting in a frameshift and premature termination (Met233PhefsTer40), that was found in compound heterozygous state in a patient with Kaya-Barakat-Masson syndrome (KABAMAS; 619125) by Diaz et al. (2020), see 619109.0004. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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AlMuhaizea, M., AlMass, R., AlHargan, A., AlBader, A., Salsench, E. M., Howaidi, J., Ihinger, J., Karachunski, P., Begtrup, A., Castell, M. S., Bauer, P., Bertoli-Avella, A., Kaya, I. H., AlSufayan, J., AlQuait, L., Chedrawi, A., Arold, S. T., Colak, D., Barakat, T. S., Kaya, N.
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<strong>Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.</strong>
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Acta Neuropath 139: 791-794, 2020.
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[PubMed: 32006098]
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[Full Text: https://doi.org/10.1007/s00401-020-02128-8]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Alterio, J., Masson, J., Diaz, J., Chachlaki, K., Salman, H., Areias, J., Al Awabdh, S., Emerit, M. B., Darmon, M.
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<strong>Yif1B is involved in the anterograde traffic pathway and the Golgi architecture.</strong>
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Traffic 16: 978-993, 2015.
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[PubMed: 26077767]
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[Full Text: https://doi.org/10.1111/tra.12306]
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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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Carrel, D., Masson, J., Al Awabdh, S., Borg Capra, C., Lenkei, Z., Hamon, M., Emerit, M. B., Darmon, M.
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<strong>Targeting of the 5-HT-1A serotonin receptor to neuronal dendrites is mediated by Yif1B.</strong>
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J. Neurosci. 28: 8063-8073, 2008.
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[PubMed: 18685031]
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[Full Text: https://doi.org/10.1523/JNEUROSCI.4487-07.2008]
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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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Diaz, J., Gerard, X., Emerit, M.-B., Areias, J., Geny, D., Degardin, J., Simonutti, M., Guerquin, M.-J., Collin, T., Viollet, C., Billard, J.-M., Metin, C., and 23 others.
|
|
<strong>YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.</strong>
|
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Brain 143: 2911-2928, 2020. Note: Erratum: Brain 144: e40, 2021.
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[PubMed: 33103737]
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[Full Text: https://doi.org/10.1093/brain/awaa235]
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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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Graab, P., Bock, C., Weiss, K., Hirth, A., Koller, N., Braner, M., Jung, J., Loehr, F., Tampe, R., Behrends, C., Abele, R.
|
|
<strong>Lysosomal targeting of the ABC transporter TAPL is determined by membrane-localized charged residues.</strong>
|
|
J. Biol. Chem. 294: 7308-7323, 2019.
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[PubMed: 30877195]
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[Full Text: https://doi.org/10.1074/jbc.RA118.007071]
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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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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/24/2020.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Medico Salsench, E., Maroofian, R., Deng, R., Lanko, K., Nikoncuk, A., Perez, B., Sanchez-Lijarcio, O., Ibanez-Mico, S., Wojcik, A., Vargas, M., Abbas Al-Sannaa, N., Girgis, M. Y., and 24 others.
|
|
<strong>Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.</strong>
|
|
Brain 144: e85, 2021.
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|
[PubMed: 34373908]
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[Full Text: https://doi.org/10.1093/brain/awab297]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</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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Sonja A. Rasmussen - updated : 07/20/2022<br>Cassandra L. Kniffin - updated : 12/14/2020<br>Matthew B. Gross - updated : 11/24/2020
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige : 11/24/2020
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</span>
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</div>
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<span class="mim-text-font">
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carol : 07/26/2022<br>alopez : 07/20/2022<br>carol : 06/01/2021<br>mgross : 12/21/2020<br>carol : 12/21/2020<br>carol : 12/18/2020<br>carol : 12/17/2020<br>ckniffin : 12/14/2020<br>mgross : 11/24/2020
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