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Entry
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- *602296 - ADAPTOR-RELATED PROTEIN COMPLEX 4, MU-1 SUBUNIT; AP4M1
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- OMIM
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<p>
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<span class="h4">*602296</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/602296">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=9179" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000221838;t=ENST00000359593" 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_001363671,NM_004722,XM_005250689,XM_005250690,XM_006716175,XM_024446995,XM_047421024,XM_047421025,XM_047421026,XM_047421028" 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_004722" 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=602296" 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 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="small">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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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=03803&isoform_id=03803_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/AP4M1" 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/1929347,4587712,5442366,14917111,17511694,34364865,51094602,119597000,119597001,119597002,119597003,145559442,194374323,194383782,194385846,530386618,530386620,578814740,1370511238,1393169971,2217369020,2217369022,2217369024,2217369029,2462616765,2462616767,2462616769,2462616771,2462616773,2462616775,2462616777" 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/O00189" 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=9179" 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=ENSG00000221838;t=ENST00000359593" 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=AP4M1" 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=AP4M1" 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+9179" 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/AP4M1" 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:9179" 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/9179" 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=chr7&hgg_gene=ENST00000359593.9&hgg_start=100100794&hgg_end=100109039&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/genes/HGNC:574" 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=602296[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=602296[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/AP4M1/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/ENSG00000221838" 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=AP4M1" 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=AP4M1" 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=AP4M1" 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=AP4M1&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/PA24866" 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:574" 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:1337063" 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/AP4M1#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:1337063" 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/9179/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=9179" 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-040718-421" 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:9179" 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=AP4M1&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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602296
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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, MU-1 SUBUNIT; AP4M1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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MU-ADAPTIN-RELATED PROTEIN 2<br />
|
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MU-ARP2
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=AP4M1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">AP4M1</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/7/484?start=-3&limit=10&highlight=484">7q22.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:100100794-100109039&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'})">7:100,100,794-100,109,039</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/7/484?start=-3&limit=10&highlight=484">
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7q22.1
|
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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 50, 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/612936"> 612936 </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">
|
|
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/602296" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/602296" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<p>The AP4M1 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; <a href="/entry/607245">607245</a>) and epsilon-4 (AP4E1; <a href="/entry/607244">607244</a>), a medium chain, mu-4 (AP4M1), and a small chain, sigma-4 (AP4S1; <a href="/entry/607243">607243</a>) (summary by <a href="#6" 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>Using a combination of sequence database searching and PCR from a human brainstem cDNA library, <a href="#8" class="mim-tip-reference" title="Wang, X., Kilimann, M. W. <strong>Identification of two new mu-adaptin-related proteins, mu-ARP1 and mu-ARP2.</strong> FEBS Lett. 402: 57-61, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9013859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9013859</a>] [<a href="https://doi.org/10.1016/s0014-5793(96)01500-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9013859">Wang and Kilimann (1997)</a> isolated a cDNA encoding mu-adaptin-related protein-2 (mu-ARP2). The predicted 434-amino acid mu-ARP2 sequence is 31% identical to those of mu-adaptins, the medium chains of the clathrin coat adaptor complexes. <a href="#8" class="mim-tip-reference" title="Wang, X., Kilimann, M. W. <strong>Identification of two new mu-adaptin-related proteins, mu-ARP1 and mu-ARP2.</strong> FEBS Lett. 402: 57-61, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9013859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9013859</a>] [<a href="https://doi.org/10.1016/s0014-5793(96)01500-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9013859">Wang and Kilimann (1997)</a> showed by Northern blot analysis that the mu-ARP2 gene was expressed in all tissues examined, with the highest level in testis. They speculated that mu-ARP2 is a subunit of a novel type of clathrin- or non-clathrin-associated protein coat involved in membrane trafficking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9013859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By immunoprecipitation of HeLa cell lysates, <a href="#1" 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> identified AP4M1 as a 50-kD protein within the 280-kD AP4 complex. Immunolocalization of the AP4B1 subunit in HeLa cells revealed that the AP4 complex associates with the trans-Golgi network or an adjacent structure. The 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><a href="#3" 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> cloned AP4M1 from a brain cDNA library. The predicted 453-amino acid AP4M1 protein contains the YELLDE motif common to other AP mu subunits. Coimmunoprecipitation of pig brain cytosol confirmed the association of AP4M1 with other AP4 proteins. Direct interaction between AP4B1 and AP4M1 was demonstrated in a yeast 2-hybrid assay. <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>
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<p><a href="#2" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 1/31/2023."None>Gross (2023)</a> mapped the AP4M1 gene to chromosome 7q22.1 based on an alignment of the AP4M1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF020796" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF020796</a>) with the genomic sequence (GRCh38).</p>
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<p><a href="#3" 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> noted that the mu subunits of other AP complexes interact with a tyrosine-based sorting signal, YXXO (where X is any amino acid and O is a bulky hydrophobic residue). Using a yeast 2-hybrid assay, they found specific interaction between AP4M1 and the YEVM sequence of the lysosomal membrane protein CD63 (<a href="/entry/155740">155740</a>). <a href="#3" 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> concluded that, like the other AP complexes, AP4 is involved in the recognition and sorting of cargo protein with tyrosine-based motifs. <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>By pull-down, immunoprecipitation, and yeast 2-hybrid analyses, <a href="#4" class="mim-tip-reference" title="Mattera, R., Williamson, C. D., Ren, X., Bonifacino, J. S. <strong>The FTS-Hook-FHIP (FHF) complex interacts with AP-4 to mediate perinuclear distribution of AP-4 and its cargo ATG9A.</strong> Molec. Biol. Cell 31: 963-979, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32073997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32073997</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32073997[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.E19-11-0658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32073997">Mattera et al. (2020)</a> showed that AP4 interacted with an FTS (AKTIP; <a href="/entry/608483">608483</a>)-HOOK-FHIP (FHF) complex containing FHIP (FHIP1B; <a href="/entry/620229">620229</a>), FTS, HOOK1 (<a href="/entry/607820">607820</a>), HOOK2 (<a href="/entry/607824">607824</a>), and HOOK3 (<a href="/entry/607825">607825</a>). The interaction was mediated by direct binding between the mu-4 subunit of AP4 and the HOOK1 and HOOK2 subunits of FHF. Deletion mapping revealed that 2 coiled-coiled domains in HOOK1 were necessary and sufficient for interaction with mu-4, as well as with HOOK1 and HOOK3. HOOK2 and AP4 colocalized in the perinuclear area of Hela cells. Knockdown of FHF subunits resulted in dispersal of AP4 and ATG9A (<a href="/entry/612204">612204</a>) from the perinuclear region toward the periphery in Hela cells, indicating that the FHF complex interacted with AP4 to mediate perinuclear distribution of AP4 and its cargo, ATG9A. Moreover, dispersal of ATG9A affected autophagy in FHF-depleted cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32073997" 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 linkage analysis followed by candidate gene sequencing of a consanguineous Moroccan family with spastic paraplegia and severe mental retardation (SPG50; <a href="/entry/612936">612936</a>), <a href="#7" class="mim-tip-reference" title="Verkerk, A. J. M. H., Schot, R., Dumee, B., Schellekens, K., Swagemakers, S., Bertoli-Avella, A. M., Lequin, M. H., Dudink, J., Govaert, P., van Zwol, A. L., Hirst, J., Wessels, M. W., and 9 others. <strong>Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.</strong> Am. J. Hum. Genet. 85: 40-52, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19559397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19559397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19559397[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.2009.06.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19559397">Verkerk et al. (2009)</a> identified a homozygous mutation in the AP4M1 gene (<a href="#0001">602296.0001</a>). <a href="#7" class="mim-tip-reference" title="Verkerk, A. J. M. H., Schot, R., Dumee, B., Schellekens, K., Swagemakers, S., Bertoli-Avella, A. M., Lequin, M. H., Dudink, J., Govaert, P., van Zwol, A. L., Hirst, J., Wessels, M. W., and 9 others. <strong>Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.</strong> Am. J. Hum. Genet. 85: 40-52, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19559397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19559397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19559397[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.2009.06.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19559397">Verkerk et al. (2009)</a> postulated that the genetic defect results in abnormal cycling of glutamate receptors, mimicking glutamate-mediated perinatal white matter injury. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19559397" 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 homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian; less than 10% Turkish or Arab) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability, <a href="#5" class="mim-tip-reference" title="Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., Zecha, A., Mohseni, M., and 33 others. <strong>Deep sequencing reveals 50 novel genes for recessive cognitive disorders.</strong> Nature 478: 57-63, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21937992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21937992</a>] [<a href="https://doi.org/10.1038/nature10423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21937992">Najmabadi et al. (2011)</a> identified homozygosity for a missense mutation in the AP4M1 gene (<a href="#0002">602296.0002</a>) in affected members of a family (M004) segregating SPG50. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21937992" 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 affected members of 2 unrelated consanguineous Turkish families with SPG50, <a href="#6" 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 2 different homozygous truncating mutations in the AP4M1 gene (R338X, <a href="#0003">602296.0003</a> and R318X, <a href="#0004">602296.0004</a>). The mutations, which were found by a combination of homozygosity mapping and exome sequencing, segregated with the disorder in the families. Functional studies of the variants and studies of patient cells were not performed. <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>In mouse embryos, <a href="#7" class="mim-tip-reference" title="Verkerk, A. J. M. H., Schot, R., Dumee, B., Schellekens, K., Swagemakers, S., Bertoli-Avella, A. M., Lequin, M. H., Dudink, J., Govaert, P., van Zwol, A. L., Hirst, J., Wessels, M. W., and 9 others. <strong>Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.</strong> Am. J. Hum. Genet. 85: 40-52, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19559397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19559397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19559397[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.2009.06.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19559397">Verkerk et al. (2009)</a> demonstrated Ap4m1 expression in all ventricular zones at different stages, suggesting a role in cerebral and cerebellar development. The localization corresponded to brain areas characterized by neuroglial progenitor proliferation, suggesting that an AP4M1 mutation might affect neurons as well as oligodendrocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19559397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=602296[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In affected members of a consanguineous Moroccan family with autosomal recessive spastic paraplegia-50 (SPG50; <a href="/entry/612936">612936</a>) and severe mental retardation, <a href="#7" class="mim-tip-reference" title="Verkerk, A. J. M. H., Schot, R., Dumee, B., Schellekens, K., Swagemakers, S., Bertoli-Avella, A. M., Lequin, M. H., Dudink, J., Govaert, P., van Zwol, A. L., Hirst, J., Wessels, M. W., and 9 others. <strong>Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.</strong> Am. J. Hum. Genet. 85: 40-52, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19559397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19559397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19559397[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.2009.06.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19559397">Verkerk et al. (2009)</a> identified a homozygous G-to-T transversion in intron 14 of the AP4M1 gene (1137+1G-T), resulting in the skipping of exon 14 and a significantly decreased amount of normal AP4M1 protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19559397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023191 OR RCV001849279 OR RCV002272028" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023191, RCV001849279, RCV002272028" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023191...</a>
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<p>In a family (M004) in which 2 of 5 children of first-cousin parents had spastic paraplegia-50 (SPG50; <a href="/entry/612936">612936</a>), characterized by severe intellectual disability, microcephaly, and spastic paraplegia, <a href="#5" class="mim-tip-reference" title="Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., Zecha, A., Mohseni, M., and 33 others. <strong>Deep sequencing reveals 50 novel genes for recessive cognitive disorders.</strong> Nature 478: 57-63, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21937992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21937992</a>] [<a href="https://doi.org/10.1038/nature10423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21937992">Najmabadi et al. (2011)</a> identified homozygosity for a causative G-to-A transition at genomic coordinate chr7:99,539,684 (NCBI36) (chr7.99,539,684G-A, NCBI36) in the AP4M1 gene, resulting in a glu193-to-lys (E193K) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21937992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE</strong>
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AP4M1, ARG338TER
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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> rs146262009 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs146262009;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/rs146262009?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=rs146262009" 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=rs146262009" 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=RCV000191922 OR RCV001849336 OR RCV003227707" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000191922, RCV001849336, RCV003227707" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000191922...</a>
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<p>In 2 sisters (family 1), born of consanguineous Turkish parents, with autosomal recessive spastic paraplegia-50 (SPG50; <a href="/entry/612936">612936</a>), <a href="#6" 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 c.1012C-T transition (chr7.99,541,837C-T, NCBI36) in exon 13 of the AP4M1 gene, resulting in an arg338-to-ter (R338X) substitution. The mutation, which was found by a combination of homozygosity mapping and exome sequencing, segregated with the disorder in the family. The mutation occurred in the mu homology domain 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 of patient cells were not performed. <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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<strong>.0004 SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs730882249 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730882249;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/rs730882249?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=rs730882249" 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=rs730882249" 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=RCV000162190 OR RCV000191923 OR RCV001529845 OR RCV001849324 OR RCV003390861" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000162190, RCV000191923, RCV001529845, RCV001849324, RCV003390861" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000162190...</a>
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<p>In 2 sibs (family 2), born of consanguineous Turkish parents, with autosomal recessive spastic paraplegia-50 (SPG50; <a href="/entry/612936">612936</a>), <a href="#6" 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 c.952C-T transition (chr7.99,541,540C-T, NCBI36) in exon 12 of the AP4M1 gene, resulting in an arg318-to-ter (R318X) substitution. The mutation, which was found by a combination of homozygosity mapping and exome sequencing, segregated with the disorder in the family. The mutation occurred in the mu homology domain 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 of patient cells were not performed. <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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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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<a id="2" class="mim-anchor"></a>
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<a id="Gross2023" 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. 1/31/2023.
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</p>
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<a id="3" 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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<a id="4" class="mim-anchor"></a>
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<a id="Mattera2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mattera, R., Williamson, C. D., Ren, X., Bonifacino, J. S.
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<strong>The FTS-Hook-FHIP (FHF) complex interacts with AP-4 to mediate perinuclear distribution of AP-4 and its cargo ATG9A.</strong>
|
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Molec. Biol. Cell 31: 963-979, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32073997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32073997</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32073997[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=32073997" 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.E19-11-0658" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Najmabadi2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., Zecha, A., Mohseni, M., and 33 others.
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<strong>Deep sequencing reveals 50 novel genes for recessive cognitive disorders.</strong>
|
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Nature 478: 57-63, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21937992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21937992</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21937992" 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/nature10423" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" 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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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Verkerk2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Verkerk, A. J. M. H., Schot, R., Dumee, B., Schellekens, K., Swagemakers, S., Bertoli-Avella, A. M., Lequin, M. H., Dudink, J., Govaert, P., van Zwol, A. L., Hirst, J., Wessels, M. W., and 9 others.
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<strong>Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.</strong>
|
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Am. J. Hum. Genet. 85: 40-52, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19559397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19559397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19559397[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=19559397" 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.2009.06.004" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Wang1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, X., Kilimann, M. W.
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<strong>Identification of two new mu-adaptin-related proteins, mu-ARP1 and mu-ARP2.</strong>
|
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FEBS Lett. 402: 57-61, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9013859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9013859</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9013859" 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/s0014-5793(96)01500-1" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 01/31/2023
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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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Bao Lige - updated : 01/31/2023<br>Cassandra L. Kniffin - updated : 9/23/2015<br>Ada Hamosh - updated : 1/6/2012<br>Cassandra L. Kniffin - updated : 7/28/2009<br>Patricia A. Hartz - updated : 9/19/2002
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</span>
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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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Patti M. Sherman : 1/29/1998
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</span>
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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 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 : 01/31/2023
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 01/31/2023<br>carol : 07/29/2021<br>alopez : 09/25/2015<br>alopez : 9/25/2015<br>ckniffin : 9/23/2015<br>carol : 4/24/2012<br>ckniffin : 4/24/2012<br>carol : 1/6/2012<br>terry : 1/6/2012<br>wwang : 8/11/2009<br>ckniffin : 7/28/2009<br>terry : 3/3/2005<br>mgross : 9/19/2002<br>carol : 10/2/2000<br>terry : 6/3/1998<br>dholmes : 1/29/1998
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 602296
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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, MU-1 SUBUNIT; AP4M1
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</span>
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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MU-ADAPTIN-RELATED PROTEIN 2<br />
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MU-ARP2
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: AP4M1</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: 7q22.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:100,100,794-100,109,039 </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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<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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7q22.1
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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 50, 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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612936
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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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<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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<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 AP4M1 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; 607245) and epsilon-4 (AP4E1; 607244), a medium chain, mu-4 (AP4M1), 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>Using a combination of sequence database searching and PCR from a human brainstem cDNA library, Wang and Kilimann (1997) isolated a cDNA encoding mu-adaptin-related protein-2 (mu-ARP2). The predicted 434-amino acid mu-ARP2 sequence is 31% identical to those of mu-adaptins, the medium chains of the clathrin coat adaptor complexes. Wang and Kilimann (1997) showed by Northern blot analysis that the mu-ARP2 gene was expressed in all tissues examined, with the highest level in testis. They speculated that mu-ARP2 is a subunit of a novel type of clathrin- or non-clathrin-associated protein coat involved in membrane trafficking. </p><p>By immunoprecipitation of HeLa cell lysates, Dell'Angelica et al. (1999) identified AP4M1 as a 50-kD protein within the 280-kD AP4 complex. Immunolocalization of the AP4B1 subunit in HeLa cells revealed that the AP4 complex associates with the trans-Golgi network or an adjacent structure. The 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>Hirst et al. (1999) cloned AP4M1 from a brain cDNA library. The predicted 453-amino acid AP4M1 protein contains the YELLDE motif common to other AP mu subunits. Coimmunoprecipitation of pig brain cytosol confirmed the association of AP4M1 with other AP4 proteins. Direct interaction between AP4B1 and AP4M1 was demonstrated in a yeast 2-hybrid assay. </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 (2023) mapped the AP4M1 gene to chromosome 7q22.1 based on an alignment of the AP4M1 sequence (GenBank AF020796) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hirst et al. (1999) noted that the mu subunits of other AP complexes interact with a tyrosine-based sorting signal, YXXO (where X is any amino acid and O is a bulky hydrophobic residue). Using a yeast 2-hybrid assay, they found specific interaction between AP4M1 and the YEVM sequence of the lysosomal membrane protein CD63 (155740). Hirst et al. (1999) concluded that, like the other AP complexes, AP4 is involved in the recognition and sorting of cargo protein with tyrosine-based motifs. </p><p>By pull-down, immunoprecipitation, and yeast 2-hybrid analyses, Mattera et al. (2020) showed that AP4 interacted with an FTS (AKTIP; 608483)-HOOK-FHIP (FHF) complex containing FHIP (FHIP1B; 620229), FTS, HOOK1 (607820), HOOK2 (607824), and HOOK3 (607825). The interaction was mediated by direct binding between the mu-4 subunit of AP4 and the HOOK1 and HOOK2 subunits of FHF. Deletion mapping revealed that 2 coiled-coiled domains in HOOK1 were necessary and sufficient for interaction with mu-4, as well as with HOOK1 and HOOK3. HOOK2 and AP4 colocalized in the perinuclear area of Hela cells. Knockdown of FHF subunits resulted in dispersal of AP4 and ATG9A (612204) from the perinuclear region toward the periphery in Hela cells, indicating that the FHF complex interacted with AP4 to mediate perinuclear distribution of AP4 and its cargo, ATG9A. Moreover, dispersal of ATG9A affected autophagy in FHF-depleted cells. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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 Moroccan family with spastic paraplegia and severe mental retardation (SPG50; 612936), Verkerk et al. (2009) identified a homozygous mutation in the AP4M1 gene (602296.0001). Verkerk et al. (2009) postulated that the genetic defect results in abnormal cycling of glutamate receptors, mimicking glutamate-mediated perinatal white matter injury. </p><p>By homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian; less than 10% Turkish or Arab) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability, Najmabadi et al. (2011) identified homozygosity for a missense mutation in the AP4M1 gene (602296.0002) in affected members of a family (M004) segregating SPG50. </p><p>In affected members of 2 unrelated consanguineous Turkish families with SPG50, Tuysuz et al. (2014) identified 2 different homozygous truncating mutations in the AP4M1 gene (R338X, 602296.0003 and R318X, 602296.0004). The mutations, which were found by a combination of homozygosity mapping and exome sequencing, segregated with the disorder in the families. Functional studies of the variants and studies of patient cells were not performed. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In mouse embryos, Verkerk et al. (2009) demonstrated Ap4m1 expression in all ventricular zones at different stages, suggesting a role in cerebral and cerebellar development. The localization corresponded to brain areas characterized by neuroglial progenitor proliferation, suggesting that an AP4M1 mutation might affect neurons as well as oligodendrocytes. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>4 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 SPASTIC PARAPLEGIA 50, 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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AP4M1, IVS14DS, G-T, +1
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<br />
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SNP: rs2134233729,
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ClinVar: RCV000007774
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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 affected members of a consanguineous Moroccan family with autosomal recessive spastic paraplegia-50 (SPG50; 612936) and severe mental retardation, Verkerk et al. (2009) identified a homozygous G-to-T transversion in intron 14 of the AP4M1 gene (1137+1G-T), resulting in the skipping of exon 14 and a significantly decreased amount of normal AP4M1 protein. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SPASTIC PARAPLEGIA 50, 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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AP4M1, GLU193LYS
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<br />
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SNP: rs387906838,
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ClinVar: RCV000023191, RCV001849279, RCV002272028
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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 a family (M004) in which 2 of 5 children of first-cousin parents had spastic paraplegia-50 (SPG50; 612936), characterized by severe intellectual disability, microcephaly, and spastic paraplegia, Najmabadi et al. (2011) identified homozygosity for a causative G-to-A transition at genomic coordinate chr7:99,539,684 (NCBI36) (chr7.99,539,684G-A, NCBI36) in the AP4M1 gene, resulting in a glu193-to-lys (E193K) substitution. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 SPASTIC PARAPLEGIA 50, 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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AP4M1, ARG338TER
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<br />
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SNP: rs146262009,
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gnomAD: rs146262009,
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ClinVar: RCV000191922, RCV001849336, RCV003227707
|
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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 sisters (family 1), born of consanguineous Turkish parents, with autosomal recessive spastic paraplegia-50 (SPG50; 612936), Tuysuz et al. (2014) identified a homozygous c.1012C-T transition (chr7.99,541,837C-T, NCBI36) in exon 13 of the AP4M1 gene, resulting in an arg338-to-ter (R338X) substitution. The mutation, which was found by a combination of homozygosity mapping and exome sequencing, segregated with the disorder in the family. The mutation occurred in the mu homology domain 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 of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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<div>
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|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
AP4M1, ARG318TER
|
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|
|
|
|
<br />
|
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|
|
SNP: rs730882249,
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|
|
|
|
|
gnomAD: rs730882249,
|
|
|
|
|
|
ClinVar: RCV000162190, RCV000191923, RCV001529845, RCV001849324, RCV003390861
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs (family 2), born of consanguineous Turkish parents, with autosomal recessive spastic paraplegia-50 (SPG50; 612936), Tuysuz et al. (2014) identified a homozygous c.952C-T transition (chr7.99,541,540C-T, NCBI36) in exon 12 of the AP4M1 gene, resulting in an arg318-to-ter (R318X) substitution. The mutation, which was found by a combination of homozygosity mapping and exome sequencing, segregated with the disorder in the family. The mutation occurred in the mu homology domain 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 of patient cells were not performed. </p>
|
|
</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>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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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">
|
|
Gross, M. B.
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<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 1/31/2023.
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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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Mattera, R., Williamson, C. D., Ren, X., Bonifacino, J. S.
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<strong>The FTS-Hook-FHIP (FHF) complex interacts with AP-4 to mediate perinuclear distribution of AP-4 and its cargo ATG9A.</strong>
|
|
Molec. Biol. Cell 31: 963-979, 2020.
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[PubMed: 32073997]
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[Full Text: https://doi.org/10.1091/mbc.E19-11-0658]
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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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Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., Zecha, A., Mohseni, M., and 33 others.
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<strong>Deep sequencing reveals 50 novel genes for recessive cognitive disorders.</strong>
|
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Nature 478: 57-63, 2011.
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[PubMed: 21937992]
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[Full Text: https://doi.org/10.1038/nature10423]
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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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<li>
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<p class="mim-text-font">
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Verkerk, A. J. M. H., Schot, R., Dumee, B., Schellekens, K., Swagemakers, S., Bertoli-Avella, A. M., Lequin, M. H., Dudink, J., Govaert, P., van Zwol, A. L., Hirst, J., Wessels, M. W., and 9 others.
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<strong>Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.</strong>
|
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Am. J. Hum. Genet. 85: 40-52, 2009.
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[PubMed: 19559397]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.06.004]
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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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Wang, X., Kilimann, M. W.
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<strong>Identification of two new mu-adaptin-related proteins, mu-ARP1 and mu-ARP2.</strong>
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FEBS Lett. 402: 57-61, 1997.
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[PubMed: 9013859]
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[Full Text: https://doi.org/10.1016/s0014-5793(96)01500-1]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 01/31/2023<br>Bao Lige - updated : 01/31/2023<br>Cassandra L. Kniffin - updated : 9/23/2015<br>Ada Hamosh - updated : 1/6/2012<br>Cassandra L. Kniffin - updated : 7/28/2009<br>Patricia A. Hartz - updated : 9/19/2002
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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 class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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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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Patti M. Sherman : 1/29/1998
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</span>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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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 : 01/31/2023<br>mgross : 01/31/2023<br>carol : 07/29/2021<br>alopez : 09/25/2015<br>alopez : 9/25/2015<br>ckniffin : 9/23/2015<br>carol : 4/24/2012<br>ckniffin : 4/24/2012<br>carol : 1/6/2012<br>terry : 1/6/2012<br>wwang : 8/11/2009<br>ckniffin : 7/28/2009<br>terry : 3/3/2005<br>mgross : 9/19/2002<br>carol : 10/2/2000<br>terry : 6/3/1998<br>dholmes : 1/29/1998
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</span>
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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