2865 lines
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- *607245 - ADAPTOR-RELATED PROTEIN COMPLEX 4, BETA-1 SUBUNIT; AP4B1
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- OMIM
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<p>
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<span class="h4">*607245</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607245">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div 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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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=10717" 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=607245" 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 id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000134262;t=ENST00000369569" 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_001253852,NM_001253853,NM_001308312,NM_006594,XM_011540523,XM_011540525,XM_017000090,XM_017000091,XM_017000093,XM_024452423,XM_024452435,XM_024452441,XM_047438847,XM_047439008,XM_047439052,XM_047439078,XR_007066904" 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_001253852" 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=607245" 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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<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=06259&isoform_id=06259_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/AP4B1" 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/4426607,15559571,62089220,119576982,119576983,119576984,119576985,126302520,166197671,189054430,193787550,194390426,221042064,359806940,359806950,767901966,767901970,815930064,1034554817,1034554819,1034554825,1370451623,1370451626,1370451629,2217263295,2217263303,2217263306,2217263308,2462502321,2462502323,2462502325,2462502327,2462502329,2462502331,2462502333,2462502335,2462502337,2462502339,2462502341,2462502343" 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/Q9Y6B7" 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 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=10717" 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=ENSG00000134262;t=ENST00000369569" 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=AP4B1" 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=AP4B1" 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+10717" 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/AP4B1" 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:10717" 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/10717" 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=chr1&hgg_gene=ENST00000369569.6&hgg_start=113894194&hgg_end=113905028&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:572" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:572" 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=607245[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607245[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/AP4B1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000134262" 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=AP4B1" 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=AP4B1" 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=AP4B1" 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=AP4B1&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/PA24864" 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:572" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1337130" 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/AP4B1#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:1337130" 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/10717/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=10717" 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://zfin.org/ZDB-GENE-040426-1284" 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:10717" 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=AP4B1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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607245
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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 4, BETA-1 SUBUNIT; AP4B1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=AP4B1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">AP4B1</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/1/935?start=-3&limit=10&highlight=935">1p13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:113894194-113905028&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'})">1:113,894,194-113,905,028</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/1/935?start=-3&limit=10&highlight=935">
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1p13.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Spastic paraplegia 47, autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/614066"> 614066 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/607245" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/607245" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The AP4B1 gene encodes a subunit of the heterotetrameric adaptor protein (AP) complex, a component of intracellular transport of proteins that is thought to have a unique role in neurons. AP4 is composed of 2 large chains, beta-4 (AP4B1) and epsilon-4 (AP4E1; <a href="/entry/607244">607244</a>), a medium chain, mu-4 (AP4M1; <a href="/entry/602296">602296</a>), and a small chain, sigma-4 (AP4S1; <a href="/entry/607243">607243</a>) (summary by <a href="#8" class="mim-tip-reference" title="Tuysuz, B., Bilguvar, K., Kocer, N., Yalcinkaya, C., Caglayan, O., Gul, E., Sahin, S., Comu, S., Gunel, M. <strong>Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.</strong> Am. J. Med. Genet. 164A: 1677-1685, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24700674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24700674</a>] [<a href="https://doi.org/10.1002/ajmg.a.36514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24700674">Tuysuz et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24700674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By searching an EST database for homologs of the beta subunits of AP complexes, followed by 5-prime RACE of a skeletal muscle cDNA library, <a href="#5" class="mim-tip-reference" title="Dell'Angelica, E. C., Mullins, C., Bonifacino, J. S. <strong>AP-4, a novel protein complex related to clathrin adaptors.</strong> J. Biol. Chem. 274: 7278-7285, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10066790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10066790</a>] [<a href="https://doi.org/10.1074/jbc.274.11.7278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10066790">Dell'Angelica et al. (1999)</a> obtained a full-length cDNA encoding AP4B1. The deduced 739-amino acid protein has a calculated molecular mass of about 83 kD and contains an N-terminal 'trunk' region, a solvent-accessible random coil 'hinge' region, and a C-terminal 'ear' domain with a high alpha helix content. Homology with other beta subunits is restricted to the N-terminal trunk region, where AP4B1 shares 28% identity with mammalian Ap1b1 (<a href="/entry/600157">600157</a>) and Ap2b1 (<a href="/entry/601025">601025</a>) and 21% identity with human AP3B1 (<a href="/entry/603401">603401</a>) and AP3B2 (<a href="/entry/602166">602166</a>). Northern blot analysis revealed ubiquitous expression of a 2.5-kb transcript; a minor 6-kb species was detected in some tissues. Western blot analysis of HeLa cell lysates confirmed an apparent molecular mass of 83 kD, and fractionation studies revealed that it can partition as both a cytosolic and a membrane protein. The membrane portion could be partially extracted with high salt, indicating that AP4B1 is a peripheral membrane protein. Gel filtration of human fibroblast cytosol revealed that AP4B1 is part of a 280-kD complex containing other proteins of 140, 50, and 17 kD. Western blot analysis identified these proteins as AP4E1, AP4M1, and AP4S1, respectively. Immunolocalization of AP4B1 in HeLa cells indicated that the AP4 complex associates with the trans-Golgi network or an adjacent structure. This association was sensitive to brefeldin-A treatment, indicating that the membrane localization of AP4 is dependent upon the small GTP-binding protein ARF1 (<a href="/entry/103180">103180</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10066790" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By searching an EST database and screening a brain cDNA library, <a href="#7" class="mim-tip-reference" title="Hirst, J., Bright, N. A., Rous, B., Robinson, M. S. <strong>Characterization of a fourth adaptor-related protein complex.</strong> Molec. Biol. Cell 10: 2787-2802, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10436028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10436028</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10436028[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/10.1091/mbc.10.8.2787" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10436028">Hirst et al. (1999)</a> isolated a cDNA encoding AP4B1. The predicted AP4B1 protein contains several motifs shared with other AP beta subunits, including a WIIGEY motif at amino acid 500 and a KKLVYLY motif near the N terminus. They noted that AP4B1 is smaller that AP1B1, AP2B1, and AP3B1 and appears to be missing most of the C-terminal hinge and/or ear domain. By coimmunoprecipitation and yeast 2-hybrid analysis, the authors confirmed that AP4B1 interacts with AP4E1 and AP4M1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10436028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Abou Jamra, R., Philippe, O., Raas-Rothschild, A., Eck, S. H., Graf, E., Buchert, R., Borck, G., Ekici, A., Brockschmidt, F. F., Nothen, M. M., Munnich, A., Strom, T. M., Reis, A., Colleaux, L. <strong>Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.</strong> Am. J. Hum. Genet. 88: 788-795, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21620353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21620353</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21620353[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.2011.04.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21620353">Abou Jamra et al. (2011)</a> found ubiquitous AP4B1 expression in all fetal and adult brain structures examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21620353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 5/23/2016."None>Gross (2016)</a> mapped the AP4B1 gene to chromosome 1p13.2 based on an alignment of the AP4B1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC014146" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC014146</a>) with the genomic sequence (GRCh38).</p>
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<p>By linkage analysis followed by candidate gene sequencing of a consanguineous Israeli Arab family with autosomal recessive mental retardation and spasticity (SPG47; <a href="/entry/614066">614066</a>), <a href="#2" class="mim-tip-reference" title="Abou Jamra, R., Philippe, O., Raas-Rothschild, A., Eck, S. H., Graf, E., Buchert, R., Borck, G., Ekici, A., Brockschmidt, F. F., Nothen, M. M., Munnich, A., Strom, T. M., Reis, A., Colleaux, L. <strong>Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.</strong> Am. J. Hum. Genet. 88: 788-795, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21620353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21620353</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21620353[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.2011.04.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21620353">Abou Jamra et al. (2011)</a> identified a homozygous truncating mutation in the AP4B1 gene (<a href="#0001">607245.0001</a>). The authors concluded that AP4-complex-mediated vesicular trafficking plays a crucial role in brain development and function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21620353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sibs, born of consanguineous Arab parents, with SPG47, <a href="#3" class="mim-tip-reference" title="Bauer, P., Leshinsky-Silver, E., Blumkin, L., Schlipf, N., Schroder, C., Schicks, J., Lev, D., Riess, O., Lerman-Sagie, T., Schols, L. <strong>Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47).</strong> Neurogenetics 13: 73-76, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22290197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22290197</a>] [<a href="https://doi.org/10.1007/s10048-012-0314-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22290197">Bauer et al. (2012)</a> identified a homozygous truncating mutation in the AP4B1 gene (<a href="#0002">607245.0002</a>). The mutation was found by exome sequencing of the candidate region on chromosome 1p13-p12 identified by linkage analysis (<a href="#4" class="mim-tip-reference" title="Blumkin, L., Lerman-Sagie, T., Lev, D., Yosovich, K., Leshinsky-Silver, E. <strong>A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.</strong> J. Neurol. Sci. 305: 67-70, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21440262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21440262</a>] [<a href="https://doi.org/10.1016/j.jns.2011.03.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21440262">Blumkin et al., 2011</a>). <a href="#3" class="mim-tip-reference" title="Bauer, P., Leshinsky-Silver, E., Blumkin, L., Schlipf, N., Schroder, C., Schicks, J., Lev, D., Riess, O., Lerman-Sagie, T., Schols, L. <strong>Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47).</strong> Neurogenetics 13: 73-76, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22290197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22290197</a>] [<a href="https://doi.org/10.1007/s10048-012-0314-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22290197">Bauer et al. (2012)</a> noted the phenotypic similarities to the patients reported by <a href="#2" class="mim-tip-reference" title="Abou Jamra, R., Philippe, O., Raas-Rothschild, A., Eck, S. H., Graf, E., Buchert, R., Borck, G., Ekici, A., Brockschmidt, F. F., Nothen, M. M., Munnich, A., Strom, T. M., Reis, A., Colleaux, L. <strong>Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.</strong> Am. J. Hum. Genet. 88: 788-795, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21620353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21620353</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21620353[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.2011.04.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21620353">Abou Jamra et al. (2011)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21440262+22290197+21620353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sibs, born of unrelated parents, with SPG47, <a href="#1" class="mim-tip-reference" title="Abdollahpour, H., Alawi, M., Kortum, F., Beckstette, M., Seemanova, E., Komarek, V., Rosenberger, G., Kutsche, K. <strong>An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.</strong> Europ. J. Hum. Genet. 23: 256-259, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24781758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24781758</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24781758[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/10.1038/ejhg.2014.73" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24781758">Abdollahpour et al. (2015)</a> identified a homozygous truncating mutation in the AP4B1 gene (<a href="#0004">607245.0004</a>). Functional studies of the variant and studies on patient cells were not reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24781758" 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">rs2101035173 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2101035173;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=rs2101035173" 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=rs2101035173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>By linkage analysis followed by candidate gene sequencing of a consanguineous Israeli Arab family with autosomal recessive mental retardation and spasticity (SPG47; <a href="/entry/614066">614066</a>), <a href="#2" class="mim-tip-reference" title="Abou Jamra, R., Philippe, O., Raas-Rothschild, A., Eck, S. H., Graf, E., Buchert, R., Borck, G., Ekici, A., Brockschmidt, F. F., Nothen, M. M., Munnich, A., Strom, T. M., Reis, A., Colleaux, L. <strong>Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.</strong> Am. J. Hum. Genet. 88: 788-795, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21620353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21620353</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21620353[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.2011.04.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21620353">Abou Jamra et al. (2011)</a> identified a homozygous 3-bp insertion (487insTAT) in exon 5 of the AP4B1 gene, resulting in premature protein termination. PCR analysis showed decreased AP4B1 transcripts in patient cells compared to controls, consistent with nonsense-mediated mRNA decay. The mutation was not found in 796 control chromosomes, including 160 Israeli Arab control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21620353" 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">rs1571563769 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1571563769;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=rs1571563769" 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=rs1571563769" 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=RCV001008109 OR RCV001775007 OR RCV001849469" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001008109, RCV001775007, RCV001849469" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001008109...</a>
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<p>In 2 sibs, born of consanguineous Arab parents, with autosomal recessive complicated spastic paraplegia-47 (SPG47; <a href="/entry/614066">614066</a>), <a href="#3" class="mim-tip-reference" title="Bauer, P., Leshinsky-Silver, E., Blumkin, L., Schlipf, N., Schroder, C., Schicks, J., Lev, D., Riess, O., Lerman-Sagie, T., Schols, L. <strong>Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47).</strong> Neurogenetics 13: 73-76, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22290197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22290197</a>] [<a href="https://doi.org/10.1007/s10048-012-0314-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22290197">Bauer et al. (2012)</a> identified a homozygous 1-bp deletion (664delC) in exon 5 of the AP4B1 gene, resulting in a frameshift and premature termination. Each unaffected parent was heterozygous for the mutation, which was not found in 316 Caucasian and 200 ethnically matched control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22290197" 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">rs2101027843 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2101027843;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=rs2101027843" 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=rs2101027843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 Turkish sisters (family 3) with autosomal recessive spastic paraplegia-47 (SPG47; <a href="/entry/614066">614066</a>), <a href="#8" class="mim-tip-reference" title="Tuysuz, B., Bilguvar, K., Kocer, N., Yalcinkaya, C., Caglayan, O., Gul, E., Sahin, S., Comu, S., Gunel, M. <strong>Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.</strong> Am. J. Med. Genet. 164A: 1677-1685, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24700674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24700674</a>] [<a href="https://doi.org/10.1002/ajmg.a.36514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24700674">Tuysuz et al. (2014)</a> identified a homozygous 1-bp deletion (869delC) (chr1.114,244,498delC, NCBI36) in the AP4B1 gene, resulting in a frameshift and premature termination (Leu221fs). The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing, segregated with the disorder in the family and was not found in the dbSNP (build 131) or 1000 Genomes Project databases, or in control chromosomes. Functional studies of the variant and studies on patient cells were not reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24700674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587779388 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587779388;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/rs587779388?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=rs587779388" 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=rs587779388" 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=RCV000144484 OR RCV000623767 OR RCV001008108 OR RCV001251672 OR RCV001814068 OR RCV001849316" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144484, RCV000623767, RCV001008108, RCV001251672, RCV001814068, RCV001849316" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144484...</a>
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<p>In 2 sibs, born of unrelated parents, with autosomal recessive spastic paraplegia-47 (SPG47; <a href="/entry/614066">614066</a>), <a href="#1" class="mim-tip-reference" title="Abdollahpour, H., Alawi, M., Kortum, F., Beckstette, M., Seemanova, E., Komarek, V., Rosenberger, G., Kutsche, K. <strong>An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.</strong> Europ. J. Hum. Genet. 23: 256-259, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24781758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24781758</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24781758[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/10.1038/ejhg.2014.73" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24781758">Abdollahpour et al. (2015)</a> identified a homozygous 2-bp deletion (c.1160_1161delCA, NM_006594.2) in exon 7 of the AP4B1 gene, resulting in a frameshift and premature termination (Thr387ArgfsTer30). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the dbSNP, 1000 Genomes Project, or Exome Variant Server databases. Although studies on patient cells and functional studies were not performed, the findings were consistent with a complete loss of protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24781758" 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>An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.</strong>
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Europ. J. Hum. Genet. 23: 256-259, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24781758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24781758</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24781758[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=24781758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2014.73" target="_blank">Full Text</a>]
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Abou Jamra, R., Philippe, O., Raas-Rothschild, A., Eck, S. H., Graf, E., Buchert, R., Borck, G., Ekici, A., Brockschmidt, F. F., Nothen, M. M., Munnich, A., Strom, T. M., Reis, A., Colleaux, L.
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<strong>Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.</strong>
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Am. J. Hum. Genet. 88: 788-795, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21620353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21620353</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21620353[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=21620353" 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.2011.04.019" target="_blank">Full Text</a>]
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Bauer, P., Leshinsky-Silver, E., Blumkin, L., Schlipf, N., Schroder, C., Schicks, J., Lev, D., Riess, O., Lerman-Sagie, T., Schols, L.
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<strong>Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47).</strong>
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Neurogenetics 13: 73-76, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22290197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22290197</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22290197" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10048-012-0314-0" target="_blank">Full Text</a>]
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Blumkin, L., Lerman-Sagie, T., Lev, D., Yosovich, K., Leshinsky-Silver, E.
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<strong>A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.</strong>
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J. Neurol. Sci. 305: 67-70, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21440262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21440262</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21440262" 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.jns.2011.03.011" target="_blank">Full Text</a>]
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Dell'Angelica, E. C., Mullins, C., Bonifacino, J. S.
|
|
<strong>AP-4, a novel protein complex related to clathrin adaptors.</strong>
|
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J. Biol. Chem. 274: 7278-7285, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10066790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10066790</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10066790" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.274.11.7278" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Gross2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 5/23/2016.
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</p>
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</div>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Hirst1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hirst, J., Bright, N. A., Rous, B., Robinson, M. S.
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<strong>Characterization of a fourth adaptor-related protein complex.</strong>
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Molec. Biol. Cell 10: 2787-2802, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10436028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10436028</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10436028[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=10436028" 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/10.1091/mbc.10.8.2787" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Tuysuz2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tuysuz, B., Bilguvar, K., Kocer, N., Yalcinkaya, C., Caglayan, O., Gul, E., Sahin, S., Comu, S., Gunel, M.
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|
<strong>Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.</strong>
|
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Am. J. Med. Genet. 164A: 1677-1685, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24700674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24700674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24700674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.36514" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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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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Matthew B. Gross - updated : 05/23/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/4/2015<br>Cassandra L. Kniffin - updated : 9/23/2015<br>Cassandra L. Kniffin - updated : 4/24/2012<br>Cassandra L. Kniffin - updated : 6/29/2011
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 9/19/2002
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 05/23/2016
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</span>
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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 : 11/6/2015<br>ckniffin : 11/4/2015<br>alopez : 9/25/2015<br>ckniffin : 9/23/2015<br>carol : 9/20/2013<br>carol : 4/24/2012<br>ckniffin : 4/24/2012<br>wwang : 7/7/2011<br>wwang : 7/5/2011<br>ckniffin : 6/29/2011<br>mgross : 9/19/2002
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 607245
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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ADAPTOR-RELATED PROTEIN COMPLEX 4, BETA-1 SUBUNIT; AP4B1
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: AP4B1</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 1p13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:113,894,194-113,905,028 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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1p13.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Spastic paraplegia 47, autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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614066
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The AP4B1 gene encodes a subunit of the heterotetrameric adaptor protein (AP) complex, a component of intracellular transport of proteins that is thought to have a unique role in neurons. AP4 is composed of 2 large chains, beta-4 (AP4B1) and epsilon-4 (AP4E1; 607244), a medium chain, mu-4 (AP4M1; 602296), and a small chain, sigma-4 (AP4S1; 607243) (summary by Tuysuz et al., 2014). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By searching an EST database for homologs of the beta subunits of AP complexes, followed by 5-prime RACE of a skeletal muscle cDNA library, Dell'Angelica et al. (1999) obtained a full-length cDNA encoding AP4B1. The deduced 739-amino acid protein has a calculated molecular mass of about 83 kD and contains an N-terminal 'trunk' region, a solvent-accessible random coil 'hinge' region, and a C-terminal 'ear' domain with a high alpha helix content. Homology with other beta subunits is restricted to the N-terminal trunk region, where AP4B1 shares 28% identity with mammalian Ap1b1 (600157) and Ap2b1 (601025) and 21% identity with human AP3B1 (603401) and AP3B2 (602166). Northern blot analysis revealed ubiquitous expression of a 2.5-kb transcript; a minor 6-kb species was detected in some tissues. Western blot analysis of HeLa cell lysates confirmed an apparent molecular mass of 83 kD, and fractionation studies revealed that it can partition as both a cytosolic and a membrane protein. The membrane portion could be partially extracted with high salt, indicating that AP4B1 is a peripheral membrane protein. Gel filtration of human fibroblast cytosol revealed that AP4B1 is part of a 280-kD complex containing other proteins of 140, 50, and 17 kD. Western blot analysis identified these proteins as AP4E1, AP4M1, and AP4S1, respectively. Immunolocalization of AP4B1 in HeLa cells indicated that the AP4 complex associates with the trans-Golgi network or an adjacent structure. This association was sensitive to brefeldin-A treatment, indicating that the membrane localization of AP4 is dependent upon the small GTP-binding protein ARF1 (103180). </p><p>By searching an EST database and screening a brain cDNA library, Hirst et al. (1999) isolated a cDNA encoding AP4B1. The predicted AP4B1 protein contains several motifs shared with other AP beta subunits, including a WIIGEY motif at amino acid 500 and a KKLVYLY motif near the N terminus. They noted that AP4B1 is smaller that AP1B1, AP2B1, and AP3B1 and appears to be missing most of the C-terminal hinge and/or ear domain. By coimmunoprecipitation and yeast 2-hybrid analysis, the authors confirmed that AP4B1 interacts with AP4E1 and AP4M1. </p><p>Abou Jamra et al. (2011) found ubiquitous AP4B1 expression in all fetal and adult brain structures examined. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gross (2016) mapped the AP4B1 gene to chromosome 1p13.2 based on an alignment of the AP4B1 sequence (GenBank BC014146) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>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>By linkage analysis followed by candidate gene sequencing of a consanguineous Israeli Arab family with autosomal recessive mental retardation and spasticity (SPG47; 614066), Abou Jamra et al. (2011) identified a homozygous truncating mutation in the AP4B1 gene (607245.0001). The authors concluded that AP4-complex-mediated vesicular trafficking plays a crucial role in brain development and function. </p><p>In 2 sibs, born of consanguineous Arab parents, with SPG47, Bauer et al. (2012) identified a homozygous truncating mutation in the AP4B1 gene (607245.0002). The mutation was found by exome sequencing of the candidate region on chromosome 1p13-p12 identified by linkage analysis (Blumkin et al., 2011). Bauer et al. (2012) noted the phenotypic similarities to the patients reported by Abou Jamra et al. (2011). </p><p>In 2 sibs, born of unrelated parents, with SPG47, Abdollahpour et al. (2015) identified a homozygous truncating mutation in the AP4B1 gene (607245.0004). Functional studies of the variant and studies on patient cells were not reported. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>4 Selected Examples):</strong>
|
|
</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">
|
|
<strong>.0001 SPASTIC PARAPLEGIA 47, 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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AP4B1, 3-BP INS, 487TAT
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<br />
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|
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SNP: rs2101035173,
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ClinVar: RCV001849776, RCV002222333
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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>By linkage analysis followed by candidate gene sequencing of a consanguineous Israeli Arab family with autosomal recessive mental retardation and spasticity (SPG47; 614066), Abou Jamra et al. (2011) identified a homozygous 3-bp insertion (487insTAT) in exon 5 of the AP4B1 gene, resulting in premature protein termination. PCR analysis showed decreased AP4B1 transcripts in patient cells compared to controls, consistent with nonsense-mediated mRNA decay. The mutation was not found in 796 control chromosomes, including 160 Israeli Arab control chromosomes. </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>.0002 SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE</strong>
|
|
</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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|
AP4B1, 1-BP DEL, 664C
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|
|
<br />
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|
|
SNP: rs1571563769,
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|
ClinVar: RCV001008109, RCV001775007, RCV001849469
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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>In 2 sibs, born of consanguineous Arab parents, with autosomal recessive complicated spastic paraplegia-47 (SPG47; 614066), Bauer et al. (2012) identified a homozygous 1-bp deletion (664delC) in exon 5 of the AP4B1 gene, resulting in a frameshift and premature termination. Each unaffected parent was heterozygous for the mutation, which was not found in 316 Caucasian and 200 ethnically matched control chromosomes. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE</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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AP4B1, 1-BP DEL, 869C
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<br />
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SNP: rs2101027843,
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ClinVar: RCV000191924
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</span>
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<span class="mim-text-font">
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<p>In 2 Turkish sisters (family 3) with autosomal recessive spastic paraplegia-47 (SPG47; 614066), Tuysuz et al. (2014) identified a homozygous 1-bp deletion (869delC) (chr1.114,244,498delC, NCBI36) in the AP4B1 gene, resulting in a frameshift and premature termination (Leu221fs). The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing, segregated with the disorder in the family and was not found in the dbSNP (build 131) or 1000 Genomes Project databases, or in control chromosomes. Functional studies of the variant and studies on patient cells were not reported. </p>
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</span>
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<br />
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<h4>
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<span class="mim-font">
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<strong>.0004 SPASTIC PARAPLEGIA 47, 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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AP4B1, 2-BP DEL, 1160CA
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<br />
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SNP: rs587779388,
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gnomAD: rs587779388,
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ClinVar: RCV000144484, RCV000623767, RCV001008108, RCV001251672, RCV001814068, RCV001849316
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sibs, born of unrelated parents, with autosomal recessive spastic paraplegia-47 (SPG47; 614066), Abdollahpour et al. (2015) identified a homozygous 2-bp deletion (c.1160_1161delCA, NM_006594.2) in exon 7 of the AP4B1 gene, resulting in a frameshift and premature termination (Thr387ArgfsTer30). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the dbSNP, 1000 Genomes Project, or Exome Variant Server databases. Although studies on patient cells and functional studies were not performed, the findings were consistent with a complete loss of protein function. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Abdollahpour, H., Alawi, M., Kortum, F., Beckstette, M., Seemanova, E., Komarek, V., Rosenberger, G., Kutsche, K.
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<strong>An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.</strong>
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Europ. J. Hum. Genet. 23: 256-259, 2015.
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[PubMed: 24781758]
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[Full Text: https://doi.org/10.1038/ejhg.2014.73]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Abou Jamra, R., Philippe, O., Raas-Rothschild, A., Eck, S. H., Graf, E., Buchert, R., Borck, G., Ekici, A., Brockschmidt, F. F., Nothen, M. M., Munnich, A., Strom, T. M., Reis, A., Colleaux, L.
|
|
<strong>Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.</strong>
|
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Am. J. Hum. Genet. 88: 788-795, 2011.
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[PubMed: 21620353]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.04.019]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bauer, P., Leshinsky-Silver, E., Blumkin, L., Schlipf, N., Schroder, C., Schicks, J., Lev, D., Riess, O., Lerman-Sagie, T., Schols, L.
|
|
<strong>Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47).</strong>
|
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Neurogenetics 13: 73-76, 2012.
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[PubMed: 22290197]
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[Full Text: https://doi.org/10.1007/s10048-012-0314-0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Blumkin, L., Lerman-Sagie, T., Lev, D., Yosovich, K., Leshinsky-Silver, E.
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|
<strong>A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.</strong>
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J. Neurol. Sci. 305: 67-70, 2011.
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[PubMed: 21440262]
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[Full Text: https://doi.org/10.1016/j.jns.2011.03.011]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dell'Angelica, E. C., Mullins, C., Bonifacino, J. S.
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<strong>AP-4, a novel protein complex related to clathrin adaptors.</strong>
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J. Biol. Chem. 274: 7278-7285, 1999.
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[PubMed: 10066790]
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[Full Text: https://doi.org/10.1074/jbc.274.11.7278]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 5/23/2016.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hirst, J., Bright, N. A., Rous, B., Robinson, M. S.
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<strong>Characterization of a fourth adaptor-related protein complex.</strong>
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Molec. Biol. Cell 10: 2787-2802, 1999.
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[PubMed: 10436028]
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[Full Text: https://doi.org/10.1091/mbc.10.8.2787]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Tuysuz, B., Bilguvar, K., Kocer, N., Yalcinkaya, C., Caglayan, O., Gul, E., Sahin, S., Comu, S., Gunel, M.
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|
<strong>Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.</strong>
|
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Am. J. Med. Genet. 164A: 1677-1685, 2014.
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[PubMed: 24700674]
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[Full Text: https://doi.org/10.1002/ajmg.a.36514]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 05/23/2016<br>Cassandra L. Kniffin - updated : 11/4/2015<br>Cassandra L. Kniffin - updated : 9/23/2015<br>Cassandra L. Kniffin - updated : 4/24/2012<br>Cassandra L. Kniffin - updated : 6/29/2011
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Patricia A. Hartz : 9/19/2002
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mgross : 05/23/2016<br>alopez : 11/6/2015<br>ckniffin : 11/4/2015<br>alopez : 9/25/2015<br>ckniffin : 9/23/2015<br>carol : 9/20/2013<br>carol : 4/24/2012<br>ckniffin : 4/24/2012<br>wwang : 7/7/2011<br>wwang : 7/5/2011<br>ckniffin : 6/29/2011<br>mgross : 9/19/2002
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