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Entry
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- *600157 - ADAPTOR-RELATED PROTEIN COMPLEX 1, BETA-1 SUBUNIT; AP1B1
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- OMIM
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</form>
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*600157</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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<li role="presentation">
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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="#geneFamily">Gene Family</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600157">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000100280;t=ENST00000357586" 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=162" 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=600157" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000100280;t=ENST00000357586" 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_001127,NM_001166019,NM_001378562,NM_001378563,NM_001378564,NM_001378565,NM_001378566,NM_145730" 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_001127" 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=600157" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
|
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
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</a>
|
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</span>
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</span>
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</div>
|
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=02541&isoform_id=02541_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/AP1B1" 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/520828,14043007,28279434,31874538,90403024,119580202,119580203,119580204,194377420,194383658,194389048,259421762,260436860,260436862,260436864,300545917,1811715175,1811715217,1811715268,1811715278,1811715287,2203400779" 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/Q10567" 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=162" 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=ENSG00000100280;t=ENST00000357586" 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=AP1B1" 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=AP1B1" 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+162" 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/AP1B1" 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:162" 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/162" 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=chr22&hgg_gene=ENST00000357586.7&hgg_start=29327680&hgg_end=29388570&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:554" 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=600157[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=600157[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/ENSG00000100280" 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=AP1B1" 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=AP1B1" 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=AP1B1" 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=AP1B1&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/PA24844" 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:554" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0010380.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1096368" 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/AP1B1#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:1096368" 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/162/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=162" 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=WBGene00000160;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-061025-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:162" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=AP1B1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 403780007<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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600157
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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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ADAPTOR-RELATED PROTEIN COMPLEX 1, BETA-1 SUBUNIT; AP1B1
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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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ADAPTIN, BETA-1; ADTB1<br />
|
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ADAPTIN, BETA-PRIME<br />
|
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BETA-ADAPTIN-MENINGIOMA GENE ON CHROMOSOME 22; BAM22
|
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=AP1B1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">AP1B1</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/22/149?start=-3&limit=10&highlight=149">22q12.2</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr22:29327680-29388570&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'})">22:29,327,680-29,388,570</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">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/22/149?start=-3&limit=10&highlight=149">
|
|
22q12.2
|
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</a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Keratitis-ichthyosis-deafness syndrome, autosomal recessive
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/242150"> 242150 </a>
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600157" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600157" 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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<p>Adaptins are essential for the formation of adaptor complexes of clathrin-coated vesicles (CCVs). Adaptins interact with the cytoplasmic domains of membrane-spanning receptors in the course of their endocytic/exocytic transport. They represent 1 of at least 4 components of intracellular transport and receptor downregulation pathways, the others being alpha/gamma-adaptins, receptors, and ligand molecules. Beta-adaptins have a bipartite structure with invariant N-terminal and variable C-terminal domains. The former interact with the uniform component of coated vesicles, the clathrin lattice. In contrast, the C-terminal domain provides a set of recognition sequences for other proteins and therefore functions as part of a selector domain responsible for the specific entrapment of membrane-bound proteins in vesicles (summary by <a href="#9" class="mim-tip-reference" title="Peyrard, M., Fransson, I., Xie, Y.-G., Han, F.-Y., Ruttledge, M. H., Swahn, S., Collins, J. E., Dunham, I., Collins, V. P., Dumanski, J. P. <strong>Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene.</strong> Hum. Molec. Genet. 3: 1393-1399, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987321</a>] [<a href="https://doi.org/10.1093/hmg/3.8.1393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987321">Peyrard et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987321" 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 140-kb homozygous deletion in 22q12 in a sporadic meningioma directed <a href="#9" class="mim-tip-reference" title="Peyrard, M., Fransson, I., Xie, Y.-G., Han, F.-Y., Ruttledge, M. H., Swahn, S., Collins, J. E., Dunham, I., Collins, V. P., Dumanski, J. P. <strong>Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene.</strong> Hum. Molec. Genet. 3: 1393-1399, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987321</a>] [<a href="https://doi.org/10.1093/hmg/3.8.1393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987321">Peyrard et al. (1994)</a> to the cloning and characterization of a new member of the human beta-adaptin gene family, which was named BAM22 for 'beta-adaptin-meningioma-chromosome 22.' The BAM22 gene was totally inactivated in the tumor with homozygous deletion. Northern blot analysis of 70 sporadic meningiomas showed specific loss of expression in 8 tumors, suggesting inactivation of BAM22. Based on this, <a href="#9" class="mim-tip-reference" title="Peyrard, M., Fransson, I., Xie, Y.-G., Han, F.-Y., Ruttledge, M. H., Swahn, S., Collins, J. E., Dunham, I., Collins, V. P., Dumanski, J. P. <strong>Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene.</strong> Hum. Molec. Genet. 3: 1393-1399, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987321</a>] [<a href="https://doi.org/10.1093/hmg/3.8.1393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987321">Peyrard et al. (1994)</a> suggested that BAM22 is a second chromosome 22 locus important in meningioma development and second in importance to the NF2 gene (<a href="/entry/607379">607379</a>), which is mutant in neurofibromatosis type II (<a href="/entry/101000">101000</a>). The likelihood that multiple loci on chromosome 22 are involved in the oncogenesis of meningioma is suggested by the facts that monosomy 22 is observed in as many as 65% of tumors (<a href="#12" class="mim-tip-reference" title="Zankl, H., Zang, K. D. <strong>Correlations between clinical and cytogenetical data in 180 human meningiomas.</strong> Cancer Genet. Cytogenet. 1: 351-356, 1980."None>Zankl and Zang, 1980</a>); some meningiomas have chromosome 22 deletions not encompassing the NF2 gene region and do not show mutations in the NF2 gene; and constitutional ring chromosome 22 has been observed in young patients with multiple tumors (<a href="#2" class="mim-tip-reference" title="Arinami, T., Kondo, I., Hamaguchi, H., Nakajima, S. <strong>Multifocal meningiomas in a patient with a constitutional ring chromosome 22.</strong> J. Med. Genet. 23: 178-180, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3712397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3712397</a>] [<a href="https://doi.org/10.1136/jmg.23.2.178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3712397">Arinami et al., 1986</a>; <a href="#8" class="mim-tip-reference" title="Petrella, R., Levine, S., Wilmot, P. L., Ashar, K. D., Casamassima, A. C., Shapiro, L. R. <strong>Multiple meningiomas in a patient with constitutional ring chromosome 22.</strong> Am. J. Med. Genet. 47: 184-186, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8213904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8213904</a>] [<a href="https://doi.org/10.1002/ajmg.1320470211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8213904">Petrella et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3712397+7987321+8213904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Boyden, L. M., Atzmony, L., Hamilton, C., Zhou, J., Lim, Y. H., Hu, R., Pappas, J., Rabin, R., Ekstien, J., Hirsch, Y., Prendiville, J., Lifton, R. P., Ferguson, S., Choate, K. A. <strong>Recessive mutations in AP1B1 cause ichthyosis, deafness, and photophobia.</strong> Am. J. Hum. Genet. 1023-1029, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31630788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31630788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31630788[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.09.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31630788">Boyden et al. (2019)</a> stained a donor control skin biopsy with anti-AP1B1 and observed cytoplasmic localization in all layers of the epidermis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31630788" 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="#9" class="mim-tip-reference" title="Peyrard, M., Fransson, I., Xie, Y.-G., Han, F.-Y., Ruttledge, M. H., Swahn, S., Collins, J. E., Dunham, I., Collins, V. P., Dumanski, J. P. <strong>Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene.</strong> Hum. Molec. Genet. 3: 1393-1399, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987321</a>] [<a href="https://doi.org/10.1093/hmg/3.8.1393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987321">Peyrard et al. (1994)</a> identified the BAM22 gene within chromosome 22q12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987321" 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="mim-changed mim-change"><p><a href="#10" class="mim-tip-reference" title="Peyrard, M., Pan, H.-Q., Kedra, D., Fransson, I., Swahn, S., Hartman, K., Clifton, S. W., Roe, B. A., Dumanski, J. P. <strong>Structure of the promoter and genomic organization of the human beta-prime-adaptin gene (BAM22) from chromosome 22q12.</strong> Genomics 36: 112-117, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8812422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8812422</a>] [<a href="https://doi.org/10.1006/geno.1996.0431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8812422">Peyrard et al. (1996)</a> described the genomic structure of the human beta-adaptin gene BAM22. The gene contains 22 exons spanning over 100 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8812422" 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></div>
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<p><a href="#4" class="mim-tip-reference" title="Doray, B., Ghosh, P., Griffith, J., Geuze, H. J., Kornfeld, S. <strong>Cooperation of GGAs and AP-1 in packaging MPRs at the trans-Golgi network.</strong> Science 297: 1700-1703, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12215646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12215646</a>] [<a href="https://doi.org/10.1126/science.1075327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12215646">Doray et al. (2002)</a> demonstrated that the Golgi-localized, gamma-ear-containing adenosine diphosphate ribosylation factor-binding proteins (GGA1, <a href="/entry/606004">606004</a> and GGA3, <a href="/entry/606006">606006</a>) and the coat protein adaptor protein-1 (AP-1) complex (see AP1G2, <a href="/entry/603534">603534</a>) colocalize in clathrin-coated buds of the trans-Golgi networks of mouse L cells and human HeLa cells. Binding studies revealed a direct interaction between the hinge domains of the GGAs and the gamma-ear domain of AP-1. Further, AP-1 contained bound casein kinase-2 (see CSNK2A1, <a href="/entry/115440">115440</a>) that phosphorylated GGA1 and GGA3, thereby causing autoinhibition. <a href="#4" class="mim-tip-reference" title="Doray, B., Ghosh, P., Griffith, J., Geuze, H. J., Kornfeld, S. <strong>Cooperation of GGAs and AP-1 in packaging MPRs at the trans-Golgi network.</strong> Science 297: 1700-1703, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12215646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12215646</a>] [<a href="https://doi.org/10.1126/science.1075327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12215646">Doray et al. (2002)</a> demonstrated that this autoinhibition could induce the directed transfer of mannose 6-phosphate receptors (see <a href="/entry/154540">154540</a>) from the GGAs to AP-1. Mannose 6-phosphate receptors that were defective in binding to GGAs were poorly incorporated into adaptor protein complex containing clathrin coated vesicles. Thus, <a href="#4" class="mim-tip-reference" title="Doray, B., Ghosh, P., Griffith, J., Geuze, H. J., Kornfeld, S. <strong>Cooperation of GGAs and AP-1 in packaging MPRs at the trans-Golgi network.</strong> Science 297: 1700-1703, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12215646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12215646</a>] [<a href="https://doi.org/10.1126/science.1075327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12215646">Doray et al. (2002)</a> concluded that GGAs and the AP-1 complex interact to package mannose 6-phosphate receptors into AP-1-containing coated vesicles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12215646" 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 2 sibs and an unrelated boy with autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR; <a href="/entry/242150">242150</a>), <a href="#1" class="mim-tip-reference" title="Alsaif, H. S., Al-Owain, M., Barrios-Llerena, M. E., Gosadi, G., Binamer, Y., Devadason, D., Ravenscroft, J., Suri, M., Alkuraya, F. S. <strong>Homozygous loss-of-function mutations in AP1B1, encoding beta-1 subunit of adaptor-related protein complex 1, cause MEDNIK-like syndrome.</strong> Am. J. Hum. Genet. 105: 1016-1022, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31630791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31630791</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31630791[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.09.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31630791">Alsaif et al. (2019)</a> identified homozygosity for a microdeletion (<a href="#0001">600157.0001</a>) and a splicing mutation (<a href="#0002">600157.0002</a>), respectively, in the AP1B1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31630791" 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>From a large cohort of individuals with keratinization disorders with and without associated syndromic features, <a href="#3" class="mim-tip-reference" title="Boyden, L. M., Atzmony, L., Hamilton, C., Zhou, J., Lim, Y. H., Hu, R., Pappas, J., Rabin, R., Ekstien, J., Hirsch, Y., Prendiville, J., Lifton, R. P., Ferguson, S., Choate, K. A. <strong>Recessive mutations in AP1B1 cause ichthyosis, deafness, and photophobia.</strong> Am. J. Hum. Genet. 1023-1029, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31630788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31630788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31630788[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.09.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31630788">Boyden et al. (2019)</a> identified 2 unrelated patients with KIDAR syndrome and biallelic mutations in the AP1B1 gene: a 33-year-old man who was compound heterozygous for a missense mutation (C144R; <a href="#0003">600157.0003</a>) and a 1-bp deletion (<a href="#0004">600157.0004</a>), and an 11-month-old Ashkenazi Jewish girl who was homozygous for a nonsense mutation (E792X; <a href="#0005">600157.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31630788" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 7-year-old Turkish girl with ichthyosis, erythroderma, deafness, and developmental delay, <a href="#7" class="mim-tip-reference" title="Meric, R., Ercan-Sencicek, A. G., Uludag Alkaya, D., Sahin, Y., Sar, M., Bilguvar, K., Tuysuz, B. <strong>A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.</strong> Clin. Dysmorph. 30: 54-57, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32969855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32969855</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32969855">Meric et al. (2021)</a> identified homozygosity for a missense mutation in the AP1B1 gene (L223P; <a href="#0006">600157.0006</a>) that segregated with disease in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32969855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 2.5-year-old German girl with ichthyosis, erythroderma, deafness, and developmental delay, <a href="#11" class="mim-tip-reference" title="Vornweg, J., Glaser, S., Ahmad-Anwar, M., Zimmer, A. D., Kuhn, M., Horer, S., Korenke, G. C., Grothaus, J., Ott, H., Fischer, J. <strong>Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome.</strong> Brit. J. Derm. 184: 1190-1192, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33452671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33452671</a>] [<a href="https://doi.org/10.1111/bjd.19815" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33452671">Vornweg et al. (2021)</a> identified compound heterozygosity for a previously reported 1-bp deletion (<a href="#0004">600157.0004</a>) and a missense mutation (R108W; <a href="#0007">600157.0007</a>) in the AP1B1 gene. Her healthy nonconsanguineous parents were each heterozygous for 1 of the variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33452671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 2-year-old Japanese boy with ichthyosis, developmental delay, and deafness, <a href="#6" class="mim-tip-reference" title="Ito, Y., Takeichi, T., Igari, S., Mori, T., Ono, A., Suyama, K., Takeuchi, S., Muro, Y., Ogi, T., Hosoya, M., Yamamoto, T., Akiyama, M. <strong>MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.</strong> J. Europ. Acad. Derm. Venereol. 35: e345-e347, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33349978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33349978</a>] [<a href="https://doi.org/10.1111/jdv.17098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33349978">Ito et al. (2021)</a> identified compound heterozygosity for nonsense mutations in the AP1B1 gene, Q618X (<a href="#0008">600157.0008</a>) and Q866X (<a href="#0009">600157.0009</a>). His unaffected parents were each heterozygous for 1 of the variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33349978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 6.5-year-old Iranian boy with KIDAR, <a href="#5" class="mim-tip-reference" title="Faghihi, F., Khamirani, H. J., Zoghi, S., Kamal, N., Yeganeh, B. S., Dianatpour, M., Bagher Tabei, S. M., Dastgheib, S. A. <strong>Phenotypic spectrum of autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) due to mutations in AP1B1.</strong> Europ. J. Med. Genet. 65: 104449, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35144013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35144013</a>] [<a href="https://doi.org/10.1016/j.ejmg.2022.104449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35144013">Faghihi et al. (2022)</a> identified homozygosity for a nonsense mutation in the AP1B1 gene (Y421X; <a href="#0010">600157.0010</a>). His first-cousin unaffected parents were heterozygous for the mutation, which was not found in public variant databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35144013" 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="mim-changed mim-change"><p><strong><em>Exclusion Studies</em></strong>
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<div class="mim-changed mim-change"><p><a href="#10" class="mim-tip-reference" title="Peyrard, M., Pan, H.-Q., Kedra, D., Fransson, I., Swahn, S., Hartman, K., Clifton, S. W., Roe, B. A., Dumanski, J. P. <strong>Structure of the promoter and genomic organization of the human beta-prime-adaptin gene (BAM22) from chromosome 22q12.</strong> Genomics 36: 112-117, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8812422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8812422</a>] [<a href="https://doi.org/10.1006/geno.1996.0431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8812422">Peyrard et al. (1996)</a> analyzed 7 exons of the BAM22 gene for sporadic mutations in 110 sporadic meningiomas (see <a href="/entry/607174">607174</a>) and failed to detect point mutations. The authors suggested that mutations in the promoter region of the gene may be important in generating meningiomas. They also considered the possibility that the 140-kb region on chromosome 22 involved in homozygous deletions in meningiomas may contain another candidate tumor suppressor gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8812422" 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></div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=600157[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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<p>In a 4.3-year-old girl of Pakistani origin and her 1.5-year-old brother (patients 1 and 2) with ichthyotic erythroderma, profound sensorineural deafness, and ectropion (KIDAR; <a href="/entry/242150">242150</a>), <a href="#1" class="mim-tip-reference" title="Alsaif, H. S., Al-Owain, M., Barrios-Llerena, M. E., Gosadi, G., Binamer, Y., Devadason, D., Ravenscroft, J., Suri, M., Alkuraya, F. S. <strong>Homozygous loss-of-function mutations in AP1B1, encoding beta-1 subunit of adaptor-related protein complex 1, cause MEDNIK-like syndrome.</strong> Am. J. Hum. Genet. 105: 1016-1022, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31630791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31630791</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31630791[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.09.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31630791">Alsaif et al. (2019)</a> identified homozygosity for a 75-kb deletion (chr22.29,758,984-29,815,476, GRCh37) that removes a putative promoter as well as the first 2 exons of AP1B1. Their unaffected second-cousin parents were heterozygous for the deletion. RT-PCR of patient fibroblasts showed complete absence of AP1B1 transcript. Both sibs had low plasma copper and ceruloplasmin levels, and analysis of patient dermal fibroblasts showed dramatic perturbation of trafficking of a key copper transporter, ATP7A (<a href="/entry/300011">300011</a>), which showed random colocalization with the trans-Golgi network compared to the nearly perfect colocalization seen in controls. In addition, proteomic analysis of clathrin (see <a href="/entry/118955">118955</a>)-coated vesicles showed that AP1B1 was the only component consistently reduced in patient fibroblasts compared to controls, suggesting that AP1B1 deficiency results in a specific defect in CCVs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31630791" 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">rs1602761438 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1602761438;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=rs1602761438" 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=rs1602761438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 4.5-year-old Saudi boy (patient 3) with ichthyotic erythroderma and associated palmoplantar hyperkeratosis as well as profound deafness (KIDAR; <a href="/entry/242150">242150</a>), <a href="#1" class="mim-tip-reference" title="Alsaif, H. S., Al-Owain, M., Barrios-Llerena, M. E., Gosadi, G., Binamer, Y., Devadason, D., Ravenscroft, J., Suri, M., Alkuraya, F. S. <strong>Homozygous loss-of-function mutations in AP1B1, encoding beta-1 subunit of adaptor-related protein complex 1, cause MEDNIK-like syndrome.</strong> Am. J. Hum. Genet. 105: 1016-1022, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31630791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31630791</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31630791[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.09.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31630791">Alsaif et al. (2019)</a> identified homozygosity for a splicing mutation (c.38-1G-A, NM_001127) in intron 2 of the AP1B1 gene that results in an aberrant transcript with a 1-bp deletion (r.40del), predicted to lead to a premature termination codon (Glu14ArgfsTer5). His unaffected parents and 3 unaffected sibs were heterozygous for the mutation. The proband had low plasma copper and ceruloplasmin levels, and analysis of his dermal fibroblasts showed dramatic perturbation of trafficking of a key copper transporter, ATP7A (<a href="/entry/300011">300011</a>), which showed random colocalization with the trans-Golgi network compared to the nearly perfect colocalization seen in controls. In addition, proteomic analysis of clathrin (see <a href="/entry/118955">118955</a>)-coated vesicles showed that AP1B1 was the only component consistently reduced in patient fibroblasts compared to controls, suggesting that AP1B1 deficiency results in a specific defect in CCVs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31630791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE</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">rs1602749299 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1602749299;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=rs1602749299" 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=rs1602749299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 33-year-old man (patient 424) with congenital ichthyosiform erythroderma, palmoplantar keratoderma, deafness, and corneal scarring causing nearly complete vision loss (KIDAR; <a href="/entry/242150">242150</a>), <a href="#3" class="mim-tip-reference" title="Boyden, L. M., Atzmony, L., Hamilton, C., Zhou, J., Lim, Y. H., Hu, R., Pappas, J., Rabin, R., Ekstien, J., Hirsch, Y., Prendiville, J., Lifton, R. P., Ferguson, S., Choate, K. A. <strong>Recessive mutations in AP1B1 cause ichthyosis, deafness, and photophobia.</strong> Am. J. Hum. Genet. 1023-1029, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31630788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31630788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31630788[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.09.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31630788">Boyden et al. (2019)</a> identified compound heterozygosity for a c.430T-C transition (c.430T-C, NM_001127.3) in the AP1B1 gene, resulting in a cys144-to-arg (C144R) substitution at a highly conserved residue, and a 1-bp deletion (c.2335delC; <a href="#0004">600157.0004</a>), causing a frameshift predicted to result in a premature termination codon (Leu779SerfsTer26). His unaffected parents were each heterozygous for 1 of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31630788" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE</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">rs1602683532 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1602683532;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=rs1602683532" 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=rs1602683532" 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=RCV000993592" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000993592" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000993592</a>
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<p>For discussion of the 1-bp deletion (c.2335delC, NM_001127.3) in the AP1B1 gene, causing a frameshift predicted to result in a premature termination codon (Leu779SerfsTer26), that was found in compound heterozygous state in a 33-year-old man (patient 424) with keratitis-ichthyosis-deafness syndrome (KIDAR; <a href="/entry/242150">242150</a>) by <a href="#3" class="mim-tip-reference" title="Boyden, L. M., Atzmony, L., Hamilton, C., Zhou, J., Lim, Y. H., Hu, R., Pappas, J., Rabin, R., Ekstien, J., Hirsch, Y., Prendiville, J., Lifton, R. P., Ferguson, S., Choate, K. A. <strong>Recessive mutations in AP1B1 cause ichthyosis, deafness, and photophobia.</strong> Am. J. Hum. Genet. 1023-1029, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31630788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31630788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31630788[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.09.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31630788">Boyden et al. (2019)</a>, see <a href="#0003">600157.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31630788" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 2.5-year-old German girl with ichthyosis, erythroderma, deafness, and developmental delay, <a href="#11" class="mim-tip-reference" title="Vornweg, J., Glaser, S., Ahmad-Anwar, M., Zimmer, A. D., Kuhn, M., Horer, S., Korenke, G. C., Grothaus, J., Ott, H., Fischer, J. <strong>Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome.</strong> Brit. J. Derm. 184: 1190-1192, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33452671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33452671</a>] [<a href="https://doi.org/10.1111/bjd.19815" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33452671">Vornweg et al. (2021)</a> identified compound heterozygosity for mutations in the AP1B1 gene: one was this previously reported 1-bp deletion, which they designated c.2254delC (c.2254delC, ENST00000317368.7), causing a frameshift predicted to result in a premature termination codon (Leu752SerfsTer26); and the other was a c.322C-T transition, resulting in an arg108-to-trp (R108W; <a href="#0007">600157.0007</a>) substitution at a highly conserved residue within a putative protein-binding region. Her healthy nonconsanguineous parents were each heterozygous for 1 of the variants. RT-PCR in patient keratinocytes detected the missense mutation but not the frameshift mutation; however, analysis of patient epidermis and isolated keratinocytes showed complete loss of AP1B1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33452671" 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 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs780548317 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs780548317;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/rs780548317?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=rs780548317" 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=rs780548317" 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=RCV000993593" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000993593" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000993593</a>
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<p>In an 11-month-old Ashkenazi Jewish girl (patient 1325) with congenital ichthyosiform erythroderma, palmoplantar keratoderma, deafness, and photophobia (KIDAR; <a href="/entry/242150">242150</a>), <a href="#3" class="mim-tip-reference" title="Boyden, L. M., Atzmony, L., Hamilton, C., Zhou, J., Lim, Y. H., Hu, R., Pappas, J., Rabin, R., Ekstien, J., Hirsch, Y., Prendiville, J., Lifton, R. P., Ferguson, S., Choate, K. A. <strong>Recessive mutations in AP1B1 cause ichthyosis, deafness, and photophobia.</strong> Am. J. Hum. Genet. 1023-1029, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31630788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31630788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31630788[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.09.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31630788">Boyden et al. (2019)</a> identified homozygosity for a c.2374G-T transversion (c.2374G-T, NM_001127.3) in the AP1B1 gene, resulting in a glu792-to-ter (E792X) substitution. Her unaffected second-cousin once-removed parents were both heterozygous for the mutation. Electron microscopy of patient keratinocytes revealed accumulation of electron-dense vesicles of varied size and density within the proliferative layers of the epidermis. Transduction of patient primary keratinocytes with wildtype AP1B1 rescued the vesicular defects, and the cells were indistinguishable from control keratinocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31630788" 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 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE</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">rs2147995205 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2147995205;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=rs2147995205" 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=rs2147995205" 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=RCV002274495" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002274495" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002274495</a>
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<p>In a 7-year-old Turkish girl with ichthyosis, deafness, and developmental delay, (KIDAR; <a href="/entry/242150">242150</a>), <a href="#7" class="mim-tip-reference" title="Meric, R., Ercan-Sencicek, A. G., Uludag Alkaya, D., Sahin, Y., Sar, M., Bilguvar, K., Tuysuz, B. <strong>A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.</strong> Clin. Dysmorph. 30: 54-57, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32969855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32969855</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32969855">Meric et al. (2021)</a> identified homozygosity for a c.668T-C transition (c.668T-C, NM_001127) in exon 6 of the AP1B1 gene, resulting in a leu223-to-pro (L223P) substitution at a highly conserved residue. Her unaffected first-cousin parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32969855" 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>.0007 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1160266009 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1160266009;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/rs1160266009?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=rs1160266009" 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=rs1160266009" 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=RCV002274494" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002274494" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002274494</a>
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<p>For discussion of the c.322C-T transition (c.322C-T, ENST00000317368.7) in the AP1B1 gene, resulting in an arg108-to-trp (R108W) substitution, that was found in compound heterozygous state in a 2.5-year-old German girl with KIDAR syndrome (<a href="/entry/242150">242150</a>) by <a href="#11" class="mim-tip-reference" title="Vornweg, J., Glaser, S., Ahmad-Anwar, M., Zimmer, A. D., Kuhn, M., Horer, S., Korenke, G. C., Grothaus, J., Ott, H., Fischer, J. <strong>Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome.</strong> Brit. J. Derm. 184: 1190-1192, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33452671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33452671</a>] [<a href="https://doi.org/10.1111/bjd.19815" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33452671">Vornweg et al. (2021)</a>, see <a href="#0004">600157.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33452671" 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>.0008 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1334834057 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1334834057;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/rs1334834057?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=rs1334834057" 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=rs1334834057" 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=RCV002274496" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002274496" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002274496</a>
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<p>In a 2-year-old Japanese boy with ichthyosis, deafness, and developmental delay (KIDAR; <a href="/entry/242150">242150</a>), <a href="#6" class="mim-tip-reference" title="Ito, Y., Takeichi, T., Igari, S., Mori, T., Ono, A., Suyama, K., Takeuchi, S., Muro, Y., Ogi, T., Hosoya, M., Yamamoto, T., Akiyama, M. <strong>MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.</strong> J. Europ. Acad. Derm. Venereol. 35: e345-e347, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33349978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33349978</a>] [<a href="https://doi.org/10.1111/jdv.17098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33349978">Ito et al. (2021)</a> identified compound heterozygosity for nonsense mutations in the AP1B1 gene: c.1852C-T and c.2596C-T transitions, resulting in gln618-to-ter (Q618X) and gln866-to-ter (Q866X; <a href="#0009">600157.0009</a>) substitutions, respectively. His unaffected parents were each heterozygous for 1 of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33349978" 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=RCV002274497" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002274497" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002274497</a>
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<p>For discussion of the c.2596C-T transition in the AP1B1 gene, resulting in a gln866-to-ter (Q866X) substitution, that was found in compound heterozygous state in a 2-year-old Japanese boy with KIDAR syndrome (<a href="/entry/242150">242150</a>) by <a href="#6" class="mim-tip-reference" title="Ito, Y., Takeichi, T., Igari, S., Mori, T., Ono, A., Suyama, K., Takeuchi, S., Muro, Y., Ogi, T., Hosoya, M., Yamamoto, T., Akiyama, M. <strong>MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.</strong> J. Europ. Acad. Derm. Venereol. 35: e345-e347, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33349978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33349978</a>] [<a href="https://doi.org/10.1111/jdv.17098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33349978">Ito et al. (2021)</a>, see <a href="#0008">600157.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33349978" 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">rs2147978539 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2147978539;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=rs2147978539" 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=rs2147978539" 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=RCV001728098" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001728098" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001728098</a>
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<p>In a 6.5-year-old Iranian boy with keratitis, ichthyosis, hearing loss, and developmental delay (KIDAR; <a href="/entry/242150">242150</a>), <a href="#5" class="mim-tip-reference" title="Faghihi, F., Khamirani, H. J., Zoghi, S., Kamal, N., Yeganeh, B. S., Dianatpour, M., Bagher Tabei, S. M., Dastgheib, S. A. <strong>Phenotypic spectrum of autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) due to mutations in AP1B1.</strong> Europ. J. Med. Genet. 65: 104449, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35144013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35144013</a>] [<a href="https://doi.org/10.1016/j.ejmg.2022.104449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35144013">Faghihi et al. (2022)</a> identified homozygosity for a c.1263C-A transversion (c.1263C-A, NM_001127.4) in the AP1B1 gene, resulting in a tyr421-to-ter (Y421X) substitution. His first-cousin parents were heterozygous for the mutation, which was not found in the Iranome, GME, TogoVar, or gnomAD databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35144013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Alsaif2019" class="mim-anchor"></a>
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Alsaif, H. S., Al-Owain, M., Barrios-Llerena, M. E., Gosadi, G., Binamer, Y., Devadason, D., Ravenscroft, J., Suri, M., Alkuraya, F. S.
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<strong>Homozygous loss-of-function mutations in AP1B1, encoding beta-1 subunit of adaptor-related protein complex 1, cause MEDNIK-like syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31630791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31630791</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31630791[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=31630791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2019.09.020" target="_blank">Full Text</a>]
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Arinami, T., Kondo, I., Hamaguchi, H., Nakajima, S.
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<strong>Multifocal meningiomas in a patient with a constitutional ring chromosome 22.</strong>
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J. Med. Genet. 23: 178-180, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3712397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3712397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3712397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.23.2.178" target="_blank">Full Text</a>]
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Boyden, L. M., Atzmony, L., Hamilton, C., Zhou, J., Lim, Y. H., Hu, R., Pappas, J., Rabin, R., Ekstien, J., Hirsch, Y., Prendiville, J., Lifton, R. P., Ferguson, S., Choate, K. A.
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<strong>Recessive mutations in AP1B1 cause ichthyosis, deafness, and photophobia.</strong>
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Am. J. Hum. Genet. 1023-1029, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31630788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31630788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31630788[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=31630788" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2019.09.021" target="_blank">Full Text</a>]
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Doray, B., Ghosh, P., Griffith, J., Geuze, H. J., Kornfeld, S.
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<strong>Cooperation of GGAs and AP-1 in packaging MPRs at the trans-Golgi network.</strong>
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Science 297: 1700-1703, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12215646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12215646</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12215646" 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/10.1126/science.1075327" target="_blank">Full Text</a>]
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Faghihi, F., Khamirani, H. J., Zoghi, S., Kamal, N., Yeganeh, B. S., Dianatpour, M., Bagher Tabei, S. M., Dastgheib, S. A.
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<strong>Phenotypic spectrum of autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) due to mutations in AP1B1.</strong>
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Europ. J. Med. Genet. 65: 104449, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35144013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35144013</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35144013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ito, Y., Takeichi, T., Igari, S., Mori, T., Ono, A., Suyama, K., Takeuchi, S., Muro, Y., Ogi, T., Hosoya, M., Yamamoto, T., Akiyama, M.
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<strong>MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.</strong>
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J. Europ. Acad. Derm. Venereol. 35: e345-e347, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33349978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33349978</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33349978" 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/jdv.17098" target="_blank">Full Text</a>]
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<a id="Meric2021" class="mim-anchor"></a>
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Meric, R., Ercan-Sencicek, A. G., Uludag Alkaya, D., Sahin, Y., Sar, M., Bilguvar, K., Tuysuz, B.
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<strong>A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.</strong>
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Clin. Dysmorph. 30: 54-57, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32969855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32969855</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32969855" 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/10.1097/MCD.0000000000000350" target="_blank">Full Text</a>]
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Petrella, R., Levine, S., Wilmot, P. L., Ashar, K. D., Casamassima, A. C., Shapiro, L. R.
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<strong>Multiple meningiomas in a patient with constitutional ring chromosome 22.</strong>
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Am. J. Med. Genet. 47: 184-186, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8213904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8213904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8213904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320470211" target="_blank">Full Text</a>]
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Peyrard, M., Fransson, I., Xie, Y.-G., Han, F.-Y., Ruttledge, M. H., Swahn, S., Collins, J. E., Dunham, I., Collins, V. P., Dumanski, J. P.
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<strong>Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene.</strong>
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Hum. Molec. Genet. 3: 1393-1399, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987321</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/3.8.1393" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Peyrard1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Peyrard, M., Pan, H.-Q., Kedra, D., Fransson, I., Swahn, S., Hartman, K., Clifton, S. W., Roe, B. A., Dumanski, J. P.
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<strong>Structure of the promoter and genomic organization of the human beta-prime-adaptin gene (BAM22) from chromosome 22q12.</strong>
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Genomics 36: 112-117, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8812422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8812422</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8812422" 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/10.1006/geno.1996.0431" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Vornweg2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vornweg, J., Glaser, S., Ahmad-Anwar, M., Zimmer, A. D., Kuhn, M., Horer, S., Korenke, G. C., Grothaus, J., Ott, H., Fischer, J.
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<strong>Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome.</strong>
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Brit. J. Derm. 184: 1190-1192, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33452671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33452671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33452671" 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/bjd.19815" target="_blank">Full Text</a>]
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Zankl1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zankl, H., Zang, K. D.
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<strong>Correlations between clinical and cytogenetical data in 180 human meningiomas.</strong>
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Cancer Genet. Cytogenet. 1: 351-356, 1980.
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 08/08/2022
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 01/16/2020<br>Ada Hamosh - updated : 10/22/2002<br>Moyra Smith - updated : 12/18/1996
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</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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Victor A. McKusick : 10/19/1994
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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/25/2025
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 08/08/2022<br>carol : 01/17/2020<br>carol : 01/16/2020<br>carol : 01/28/2003<br>alopez : 10/23/2002<br>alopez : 10/22/2002<br>alopez : 10/22/2002<br>carol : 9/19/2000<br>psherman : 1/5/1999<br>dkim : 6/26/1998<br>alopez : 7/30/1997<br>alopez : 7/8/1997<br>mark : 12/18/1996<br>jamie : 12/17/1996<br>mimadm : 9/23/1995<br>carol : 11/2/1994<br>terry : 10/19/1994
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<span class="mim-font">
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<strong>*</strong> 600157
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<div>
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<h3>
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<span class="mim-font">
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ADAPTOR-RELATED PROTEIN COMPLEX 1, BETA-1 SUBUNIT; AP1B1
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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ADAPTIN, BETA-1; ADTB1<br />
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ADAPTIN, BETA-PRIME<br />
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BETA-ADAPTIN-MENINGIOMA GENE ON CHROMOSOME 22; BAM22
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</span>
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</h4>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: AP1B1</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 403780007;
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</span>
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<strong>
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<em>
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Cytogenetic location: 22q12.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 22:29,327,680-29,388,570 </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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<span class="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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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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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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<td rowspan="1">
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<span class="mim-font">
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22q12.2
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<td>
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<span class="mim-font">
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Keratitis-ichthyosis-deafness syndrome, autosomal recessive
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</td>
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<td>
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<span class="mim-font">
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242150
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<td>
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<span class="mim-font">
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Autosomal recessive
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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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<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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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Family</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Adaptins are essential for the formation of adaptor complexes of clathrin-coated vesicles (CCVs). Adaptins interact with the cytoplasmic domains of membrane-spanning receptors in the course of their endocytic/exocytic transport. They represent 1 of at least 4 components of intracellular transport and receptor downregulation pathways, the others being alpha/gamma-adaptins, receptors, and ligand molecules. Beta-adaptins have a bipartite structure with invariant N-terminal and variable C-terminal domains. The former interact with the uniform component of coated vesicles, the clathrin lattice. In contrast, the C-terminal domain provides a set of recognition sequences for other proteins and therefore functions as part of a selector domain responsible for the specific entrapment of membrane-bound proteins in vesicles (summary by Peyrard et al., 1994). </p>
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<div>
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<br />
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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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<span class="mim-text-font">
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<p>A 140-kb homozygous deletion in 22q12 in a sporadic meningioma directed Peyrard et al. (1994) to the cloning and characterization of a new member of the human beta-adaptin gene family, which was named BAM22 for 'beta-adaptin-meningioma-chromosome 22.' The BAM22 gene was totally inactivated in the tumor with homozygous deletion. Northern blot analysis of 70 sporadic meningiomas showed specific loss of expression in 8 tumors, suggesting inactivation of BAM22. Based on this, Peyrard et al. (1994) suggested that BAM22 is a second chromosome 22 locus important in meningioma development and second in importance to the NF2 gene (607379), which is mutant in neurofibromatosis type II (101000). The likelihood that multiple loci on chromosome 22 are involved in the oncogenesis of meningioma is suggested by the facts that monosomy 22 is observed in as many as 65% of tumors (Zankl and Zang, 1980); some meningiomas have chromosome 22 deletions not encompassing the NF2 gene region and do not show mutations in the NF2 gene; and constitutional ring chromosome 22 has been observed in young patients with multiple tumors (Arinami et al., 1986; Petrella et al., 1993). </p><p>Boyden et al. (2019) stained a donor control skin biopsy with anti-AP1B1 and observed cytoplasmic localization in all layers of the epidermis. </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>Peyrard et al. (1994) identified the BAM22 gene within chromosome 22q12. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Peyrard et al. (1996) described the genomic structure of the human beta-adaptin gene BAM22. The gene contains 22 exons spanning over 100 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Doray et al. (2002) demonstrated that the Golgi-localized, gamma-ear-containing adenosine diphosphate ribosylation factor-binding proteins (GGA1, 606004 and GGA3, 606006) and the coat protein adaptor protein-1 (AP-1) complex (see AP1G2, 603534) colocalize in clathrin-coated buds of the trans-Golgi networks of mouse L cells and human HeLa cells. Binding studies revealed a direct interaction between the hinge domains of the GGAs and the gamma-ear domain of AP-1. Further, AP-1 contained bound casein kinase-2 (see CSNK2A1, 115440) that phosphorylated GGA1 and GGA3, thereby causing autoinhibition. Doray et al. (2002) demonstrated that this autoinhibition could induce the directed transfer of mannose 6-phosphate receptors (see 154540) from the GGAs to AP-1. Mannose 6-phosphate receptors that were defective in binding to GGAs were poorly incorporated into adaptor protein complex containing clathrin coated vesicles. Thus, Doray et al. (2002) concluded that GGAs and the AP-1 complex interact to package mannose 6-phosphate receptors into AP-1-containing coated vesicles. </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 2 sibs and an unrelated boy with autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR; 242150), Alsaif et al. (2019) identified homozygosity for a microdeletion (600157.0001) and a splicing mutation (600157.0002), respectively, in the AP1B1 gene. </p><p>From a large cohort of individuals with keratinization disorders with and without associated syndromic features, Boyden et al. (2019) identified 2 unrelated patients with KIDAR syndrome and biallelic mutations in the AP1B1 gene: a 33-year-old man who was compound heterozygous for a missense mutation (C144R; 600157.0003) and a 1-bp deletion (600157.0004), and an 11-month-old Ashkenazi Jewish girl who was homozygous for a nonsense mutation (E792X; 600157.0005). </p><p>In a 7-year-old Turkish girl with ichthyosis, erythroderma, deafness, and developmental delay, Meric et al. (2021) identified homozygosity for a missense mutation in the AP1B1 gene (L223P; 600157.0006) that segregated with disease in the family. </p><p>In a 2.5-year-old German girl with ichthyosis, erythroderma, deafness, and developmental delay, Vornweg et al. (2021) identified compound heterozygosity for a previously reported 1-bp deletion (600157.0004) and a missense mutation (R108W; 600157.0007) in the AP1B1 gene. Her healthy nonconsanguineous parents were each heterozygous for 1 of the variants. </p><p>In a 2-year-old Japanese boy with ichthyosis, developmental delay, and deafness, Ito et al. (2021) identified compound heterozygosity for nonsense mutations in the AP1B1 gene, Q618X (600157.0008) and Q866X (600157.0009). His unaffected parents were each heterozygous for 1 of the variants. </p><p>In a 6.5-year-old Iranian boy with KIDAR, Faghihi et al. (2022) identified homozygosity for a nonsense mutation in the AP1B1 gene (Y421X; 600157.0010). His first-cousin unaffected parents were heterozygous for the mutation, which was not found in public variant databases. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
|
|
Peyrard et al. (1996) analyzed 7 exons of the BAM22 gene for sporadic mutations in 110 sporadic meningiomas (see 607174) and failed to detect point mutations. The authors suggested that mutations in the promoter region of the gene may be important in generating meningiomas. They also considered the possibility that the 140-kb region on chromosome 22 involved in homozygous deletions in meningiomas may contain another candidate tumor suppressor gene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
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<strong>10 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 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE</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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AP1B1, 75-KB DEL, EX1-2DEL
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<br />
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ClinVar: RCV000993589
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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 4.3-year-old girl of Pakistani origin and her 1.5-year-old brother (patients 1 and 2) with ichthyotic erythroderma, profound sensorineural deafness, and ectropion (KIDAR; 242150), Alsaif et al. (2019) identified homozygosity for a 75-kb deletion (chr22.29,758,984-29,815,476, GRCh37) that removes a putative promoter as well as the first 2 exons of AP1B1. Their unaffected second-cousin parents were heterozygous for the deletion. RT-PCR of patient fibroblasts showed complete absence of AP1B1 transcript. Both sibs had low plasma copper and ceruloplasmin levels, and analysis of patient dermal fibroblasts showed dramatic perturbation of trafficking of a key copper transporter, ATP7A (300011), which showed random colocalization with the trans-Golgi network compared to the nearly perfect colocalization seen in controls. In addition, proteomic analysis of clathrin (see 118955)-coated vesicles showed that AP1B1 was the only component consistently reduced in patient fibroblasts compared to controls, suggesting that AP1B1 deficiency results in a specific defect in CCVs. </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 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE</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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AP1B1, IVS2AS, G-A, -1
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<br />
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SNP: rs1602761438,
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ClinVar: RCV000993590
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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 4.5-year-old Saudi boy (patient 3) with ichthyotic erythroderma and associated palmoplantar hyperkeratosis as well as profound deafness (KIDAR; 242150), Alsaif et al. (2019) identified homozygosity for a splicing mutation (c.38-1G-A, NM_001127) in intron 2 of the AP1B1 gene that results in an aberrant transcript with a 1-bp deletion (r.40del), predicted to lead to a premature termination codon (Glu14ArgfsTer5). His unaffected parents and 3 unaffected sibs were heterozygous for the mutation. The proband had low plasma copper and ceruloplasmin levels, and analysis of his dermal fibroblasts showed dramatic perturbation of trafficking of a key copper transporter, ATP7A (300011), which showed random colocalization with the trans-Golgi network compared to the nearly perfect colocalization seen in controls. In addition, proteomic analysis of clathrin (see 118955)-coated vesicles showed that AP1B1 was the only component consistently reduced in patient fibroblasts compared to controls, suggesting that AP1B1 deficiency results in a specific defect in CCVs. </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">
|
|
<strong>.0003 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE</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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AP1B1, CYS144ARG
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<br />
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SNP: rs1602749299,
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ClinVar: RCV000993591
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|
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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 33-year-old man (patient 424) with congenital ichthyosiform erythroderma, palmoplantar keratoderma, deafness, and corneal scarring causing nearly complete vision loss (KIDAR; 242150), Boyden et al. (2019) identified compound heterozygosity for a c.430T-C transition (c.430T-C, NM_001127.3) in the AP1B1 gene, resulting in a cys144-to-arg (C144R) substitution at a highly conserved residue, and a 1-bp deletion (c.2335delC; 600157.0004), causing a frameshift predicted to result in a premature termination codon (Leu779SerfsTer26). His unaffected parents were each heterozygous for 1 of the mutations. </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">
|
|
<strong>.0004 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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AP1B1, 1-BP DEL, 2335C
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<br />
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SNP: rs1602683532,
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ClinVar: RCV000993592
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion (c.2335delC, NM_001127.3) in the AP1B1 gene, causing a frameshift predicted to result in a premature termination codon (Leu779SerfsTer26), that was found in compound heterozygous state in a 33-year-old man (patient 424) with keratitis-ichthyosis-deafness syndrome (KIDAR; 242150) by Boyden et al. (2019), see 600157.0003. </p><p>In a 2.5-year-old German girl with ichthyosis, erythroderma, deafness, and developmental delay, Vornweg et al. (2021) identified compound heterozygosity for mutations in the AP1B1 gene: one was this previously reported 1-bp deletion, which they designated c.2254delC (c.2254delC, ENST00000317368.7), causing a frameshift predicted to result in a premature termination codon (Leu752SerfsTer26); and the other was a c.322C-T transition, resulting in an arg108-to-trp (R108W; 600157.0007) substitution at a highly conserved residue within a putative protein-binding region. Her healthy nonconsanguineous parents were each heterozygous for 1 of the variants. RT-PCR in patient keratinocytes detected the missense mutation but not the frameshift mutation; however, analysis of patient epidermis and isolated keratinocytes showed complete loss of AP1B1. </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>
|
|
<span class="mim-font">
|
|
<strong>.0005 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
AP1B1, GLU792TER
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<br />
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SNP: rs780548317,
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gnomAD: rs780548317,
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|
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ClinVar: RCV000993593
|
|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 11-month-old Ashkenazi Jewish girl (patient 1325) with congenital ichthyosiform erythroderma, palmoplantar keratoderma, deafness, and photophobia (KIDAR; 242150), Boyden et al. (2019) identified homozygosity for a c.2374G-T transversion (c.2374G-T, NM_001127.3) in the AP1B1 gene, resulting in a glu792-to-ter (E792X) substitution. Her unaffected second-cousin once-removed parents were both heterozygous for the mutation. Electron microscopy of patient keratinocytes revealed accumulation of electron-dense vesicles of varied size and density within the proliferative layers of the epidermis. Transduction of patient primary keratinocytes with wildtype AP1B1 rescued the vesicular defects, and the cells were indistinguishable from control keratinocytes. </p>
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|
</span>
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</div>
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<div>
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<br />
|
|
</div>
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</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AP1B1, LEU223PRO
|
|
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|
|
|
<br />
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|
|
SNP: rs2147995205,
|
|
|
|
|
|
|
|
ClinVar: RCV002274495
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 7-year-old Turkish girl with ichthyosis, deafness, and developmental delay, (KIDAR; 242150), Meric et al. (2021) identified homozygosity for a c.668T-C transition (c.668T-C, NM_001127) in exon 6 of the AP1B1 gene, resulting in a leu223-to-pro (L223P) substitution at a highly conserved residue. Her unaffected first-cousin parents were heterozygous for the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AP1B1, ARG108TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1160266009,
|
|
|
|
|
|
gnomAD: rs1160266009,
|
|
|
|
|
|
ClinVar: RCV002274494
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.322C-T transition (c.322C-T, ENST00000317368.7) in the AP1B1 gene, resulting in an arg108-to-trp (R108W) substitution, that was found in compound heterozygous state in a 2.5-year-old German girl with KIDAR syndrome (242150) by Vornweg et al. (2021), see 600157.0004. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AP1B1, GLN618TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1334834057,
|
|
|
|
|
|
gnomAD: rs1334834057,
|
|
|
|
|
|
ClinVar: RCV002274496
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 2-year-old Japanese boy with ichthyosis, deafness, and developmental delay (KIDAR; 242150), Ito et al. (2021) identified compound heterozygosity for nonsense mutations in the AP1B1 gene: c.1852C-T and c.2596C-T transitions, resulting in gln618-to-ter (Q618X) and gln866-to-ter (Q866X; 600157.0009) substitutions, respectively. His unaffected parents were each heterozygous for 1 of the mutations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
|
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|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AP1B1, GLN866TER
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV002274497
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.2596C-T transition in the AP1B1 gene, resulting in a gln866-to-ter (Q866X) substitution, that was found in compound heterozygous state in a 2-year-old Japanese boy with KIDAR syndrome (242150) by Ito et al. (2021), see 600157.0008. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
AP1B1, TYR421TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2147978539,
|
|
|
|
|
|
|
|
ClinVar: RCV001728098
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 6.5-year-old Iranian boy with keratitis, ichthyosis, hearing loss, and developmental delay (KIDAR; 242150), Faghihi et al. (2022) identified homozygosity for a c.1263C-A transversion (c.1263C-A, NM_001127.4) in the AP1B1 gene, resulting in a tyr421-to-ter (Y421X) substitution. His first-cousin parents were heterozygous for the mutation, which was not found in the Iranome, GME, TogoVar, or gnomAD databases. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
<div>
|
|
<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Alsaif, H. S., Al-Owain, M., Barrios-Llerena, M. E., Gosadi, G., Binamer, Y., Devadason, D., Ravenscroft, J., Suri, M., Alkuraya, F. S.
|
|
<strong>Homozygous loss-of-function mutations in AP1B1, encoding beta-1 subunit of adaptor-related protein complex 1, cause MEDNIK-like syndrome.</strong>
|
|
Am. J. Hum. Genet. 105: 1016-1022, 2019.
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|
|
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|
|
[PubMed: 31630791]
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[Full Text: https://doi.org/10.1016/j.ajhg.2019.09.020]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Arinami, T., Kondo, I., Hamaguchi, H., Nakajima, S.
|
|
<strong>Multifocal meningiomas in a patient with a constitutional ring chromosome 22.</strong>
|
|
J. Med. Genet. 23: 178-180, 1986.
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|
[PubMed: 3712397]
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[Full Text: https://doi.org/10.1136/jmg.23.2.178]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Boyden, L. M., Atzmony, L., Hamilton, C., Zhou, J., Lim, Y. H., Hu, R., Pappas, J., Rabin, R., Ekstien, J., Hirsch, Y., Prendiville, J., Lifton, R. P., Ferguson, S., Choate, K. A.
|
|
<strong>Recessive mutations in AP1B1 cause ichthyosis, deafness, and photophobia.</strong>
|
|
Am. J. Hum. Genet. 1023-1029, 2019.
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|
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|
|
[PubMed: 31630788]
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[Full Text: https://doi.org/10.1016/j.ajhg.2019.09.021]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Doray, B., Ghosh, P., Griffith, J., Geuze, H. J., Kornfeld, S.
|
|
<strong>Cooperation of GGAs and AP-1 in packaging MPRs at the trans-Golgi network.</strong>
|
|
Science 297: 1700-1703, 2002.
|
|
|
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|
|
[PubMed: 12215646]
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|
|
[Full Text: https://doi.org/10.1126/science.1075327]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Faghihi, F., Khamirani, H. J., Zoghi, S., Kamal, N., Yeganeh, B. S., Dianatpour, M., Bagher Tabei, S. M., Dastgheib, S. A.
|
|
<strong>Phenotypic spectrum of autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) due to mutations in AP1B1.</strong>
|
|
Europ. J. Med. Genet. 65: 104449, 2022.
|
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|
[PubMed: 35144013]
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[Full Text: https://doi.org/10.1016/j.ejmg.2022.104449]
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
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Ito, Y., Takeichi, T., Igari, S., Mori, T., Ono, A., Suyama, K., Takeuchi, S., Muro, Y., Ogi, T., Hosoya, M., Yamamoto, T., Akiyama, M.
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Petrella, R., Levine, S., Wilmot, P. L., Ashar, K. D., Casamassima, A. C., Shapiro, L. R.
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<strong>Multiple meningiomas in a patient with constitutional ring chromosome 22.</strong>
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Vornweg, J., Glaser, S., Ahmad-Anwar, M., Zimmer, A. D., Kuhn, M., Horer, S., Korenke, G. C., Grothaus, J., Ott, H., Fischer, J.
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