3385 lines
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Entry
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- *606247 - STAM-BINDING PROTEIN; STAMBP
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*606247</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/606247">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000124356;t=ENST00000394070" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=10617" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=606247" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000124356;t=ENST00000394070" 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_001353967,NM_001353968,NM_001353969,NM_001353970,NM_001353971,NM_001353972,NM_001353973,NM_001353974,NM_001353975,NM_001353976,NM_006463,NM_201647,NM_213622,NR_148668,NR_148669,NR_148670,NR_148671,XM_011532485,XM_047442961,XM_047442962,XM_047442963,XM_047442964,XM_047442968,XM_047442970,XM_047442971,XM_047442972,XM_047442973,XM_047442974" 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_213622" 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=606247" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=05877&isoform_id=05877_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/STAMBP" 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/4098124,5453545,13619579,14043382,41389058,42519912,47132534,62630163,71153538,75516493,75516495,119620120,119620121,119620122,197292079,332368001,444738583,767913672,1227367019,1227367066,1237937652,1237937720,1237937727,1237937908,1237938036,1237938043,1237938096,1238789432,2217325043,2217325045,2217325047,2217325049,2217325051,2217325053,2217325055,2217325058,2217325060,2217325062,2462569419,2462569421,2462569423,2462569425,2462569427,2462569429,2462569431,2462569433,2462569435,2462569437,2462569439" 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/O95630" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=10617" 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=ENSG00000124356;t=ENST00000394070" 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=STAMBP" 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=STAMBP" 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+10617" 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/STAMBP" 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:10617" 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/10617" 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=chr2&hgg_gene=ENST00000394070.7&hgg_start=73828961&hgg_end=73873656&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/stambp" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606247[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=606247[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/STAMBP/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/ENSG00000124356" 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=STAMBP" 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=STAMBP" 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=STAMBP" 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=STAMBP&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/PA134955569" 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:16950" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0039773.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1917777" 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/STAMBP#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:1917777" 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/10617/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=10617" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1551" 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:10617" 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=STAMBP&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 703369003<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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606247
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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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STAM-BINDING PROTEIN; STAMBP
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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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ASSOCIATED MOLECULE WITH THE SH3 DOMAIN OF STAM; AMSH
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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=STAMBP" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">STAMBP</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/2/369?start=-3&limit=10&highlight=369">2p13.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:73828961-73873656&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'})">2:73,828,961-73,873,656</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">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
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</thead>
|
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<tbody>
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|
<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/369?start=-3&limit=10&highlight=369">
|
|
2p13.1
|
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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">
|
|
Microcephaly-capillary malformation syndrome
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614261"> 614261 </a>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/606247" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/606247" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</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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<p>The STAMBP gene encodes a deubiquitinating (DUB) isopeptidase that has a key role in cell surface receptor-mediated endocytosis and sorting (summary by <a href="#6" class="mim-tip-reference" title="McDonell, L. M., Mirzaa, G. M., Alcantara, D., Schwartzentruber, J., Carter, M. T., Lee, L. J., Clericuzio, C. L., Graham, J. M., Jr., Morris-Rosendahl, D. J., Polster, T., Acsadi, G., Townshend, S., and 19 others. <strong>Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.</strong> Nature Genet. 45: 556-562, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542699</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542699[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542699">McDonell et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23542699" 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>Signal-transducing adaptor molecule (STAM; <a href="/entry/601899">601899</a>) acts downstream of interleukin-2 (IL2; <a href="/entry/147680">147680</a>)-induced signaling through JAK3 (<a href="/entry/600173">600173</a>). It also interacts with JAK2 (<a href="/entry/147796">147796</a>) after granulocyte-macrophage colony-stimulating factor (GMCSF; <a href="/entry/138960">138960</a>) stimulation. STAM contains an SH3 domain that is required for induction of MYC (<a href="/entry/190080">190080</a>) and cell growth. By Far Western screening of an activated peripheral blood leukocyte cDNA library to identify cDNAs binding to the SH3 domain of STAM, <a href="#8" class="mim-tip-reference" title="Tanaka, N., Kaneko, K., Asao, H., Kasai, H., Endo, Y., Fujita, T., Takeshita, T., Sugamura, K. <strong>Possible involvement of a novel STAM-associated molecule 'AMSH' in intracellular signal transduction mediated by cytokines.</strong> J. Biol. Chem. 274: 19129-19135, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10383417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10383417</a>] [<a href="https://doi.org/10.1074/jbc.274.27.19129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10383417">Tanaka et al. (1999)</a> obtained a cDNA encoding AMSH. The deduced 424-amino acid protein contains 2 potential SH3-binding domains (PxxP motifs), a JAB1 (<a href="/entry/604850">604850</a>) subdomain homologous (JSH) region, and a putative bipartite nuclear localization signal. Northern blot analysis revealed ubiquitous expression of a 2.1-kb AMSH transcript. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10383417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using in situ hybridization and Northern blot analysis, <a href="#2" class="mim-tip-reference" title="Ishii, N., Owada, Y., Yamada, M., Miura, S., Murata, K., Asao, H., Kondo, H., Sugamura, K. <strong>Loss of neurons in the hippocampus and cerebral cortex of AMSH-deficient mice.</strong> Molec. Cell. Biol. 21: 8626-8637, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11713295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11713295</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11713295[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/10.1128/MCB.21.24.8626-8637.2001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11713295">Ishii et al. (2001)</a> observed that Amsh was expressed diffusely in both mantle and ventricular layers throughout the mouse brain at embryonic day 14. By postnatal day 10, Amsh expression was localized to the olfactory bulb, cerebral cortex, hippocampus, and cerebellum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11713295" 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 transfected COS-7 cells, <a href="#4" class="mim-tip-reference" title="Kikuchi, K., Ishii, N., Asao, H., Sugamura, K. <strong>Identification of AMSH-LP containing a Jab1/MPN domain metalloenzyme motif.</strong> Biochem. Biophys. Res. Commun. 306: 637-643, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12810066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12810066</a>] [<a href="https://doi.org/10.1016/s0006-291x(03)01009-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12810066">Kikuchi et al. (2003)</a> found that fluorescence-tagged AMSH was expressed diffusely in the cytoplasm and in a punctate pattern surrounding the nuclear membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12810066" 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 immunoprecipitation and immunoblot analysis, <a href="#8" class="mim-tip-reference" title="Tanaka, N., Kaneko, K., Asao, H., Kasai, H., Endo, Y., Fujita, T., Takeshita, T., Sugamura, K. <strong>Possible involvement of a novel STAM-associated molecule 'AMSH' in intracellular signal transduction mediated by cytokines.</strong> J. Biol. Chem. 274: 19129-19135, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10383417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10383417</a>] [<a href="https://doi.org/10.1074/jbc.274.27.19129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10383417">Tanaka et al. (1999)</a> showed that the SH3 domain of STAM was required for AMSH binding at the PxxP motif at pro227 to pro231. Mutation analysis indicated that MYC induction and cell growth were eliminated in the presence of exogenous AMSH lacking the 190 C-terminal residues. <a href="#8" class="mim-tip-reference" title="Tanaka, N., Kaneko, K., Asao, H., Kasai, H., Endo, Y., Fujita, T., Takeshita, T., Sugamura, K. <strong>Possible involvement of a novel STAM-associated molecule 'AMSH' in intracellular signal transduction mediated by cytokines.</strong> J. Biol. Chem. 274: 19129-19135, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10383417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10383417</a>] [<a href="https://doi.org/10.1074/jbc.274.27.19129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10383417">Tanaka et al. (1999)</a> concluded that the STAM-AMSH complex plays a critical role in signaling for MYC induction and cell cycle progression downstream of JAK3 and JAK2 after IL2 or GMCSF stimulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10383417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using RNF11 (<a href="/entry/612598">612598</a>) as bait in a yeast 2-hybrid screen of a human ovary cDNA library, <a href="#5" class="mim-tip-reference" title="Li, H., Seth, A. <strong>An RNF11: Smurf2 complex mediates ubiquitination of the AMSH protein.</strong> Oncogene 23: 1801-1808, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755250</a>] [<a href="https://doi.org/10.1038/sj.onc.1207319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14755250">Li and Seth (2004)</a> showed that human RNF11 interacted with several proteins, including AMSH. The interaction of RNF11 with AMSH was independent of the RNF11 RING finger domain and PY motif. AMSH was ubiquitinated by the E3 ubiquitin ligase SMURF2 (<a href="/entry/605532">605532</a>) in the presence of RNF11, and reduction in the steady-state level of AMSH required both RNF11 and SMURF2. <a href="#5" class="mim-tip-reference" title="Li, H., Seth, A. <strong>An RNF11: Smurf2 complex mediates ubiquitination of the AMSH protein.</strong> Oncogene 23: 1801-1808, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755250</a>] [<a href="https://doi.org/10.1038/sj.onc.1207319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14755250">Li and Seth (2004)</a> concluded that RNF11 recruits AMSH to SMURF2 for ubiquitination, leading to its degradation by the 26S proteasome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14755250" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using several protein interaction assays, <a href="#9" class="mim-tip-reference" title="Tsang, H. T. H., Connell, J. W., Brown, S. E., Thompson, A., Reid, E., Sanderson, C. M. <strong>A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex.</strong> Genomics 88: 333-346, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16730941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16730941</a>] [<a href="https://doi.org/10.1016/j.ygeno.2006.04.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16730941">Tsang et al. (2006)</a> showed that AMSH interacted directly with the ESCRT-III components CHMP1B (<a href="/entry/606486">606486</a>) and CHMP3 (VPS24; <a href="/entry/610052">610052</a>). The 3 proteins partially colocalized with M6PR (<a href="/entry/154540">154540</a>) on late endosomal membranes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16730941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Kikuchi, K., Ishii, N., Asao, H., Sugamura, K. <strong>Identification of AMSH-LP containing a Jab1/MPN domain metalloenzyme motif.</strong> Biochem. Biophys. Res. Commun. 306: 637-643, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12810066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12810066</a>] [<a href="https://doi.org/10.1016/s0006-291x(03)01009-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12810066">Kikuchi et al. (2003)</a> found that both the nuclear localization signal and the MPN domain of AMSH are required for its nuclear localization. Coimmunoprecipitation analysis of transfected 293T cells showed that epitope-tagged AMSH bound STAM, STAM2 (<a href="/entry/606244">606244</a>), and GRB2 (<a href="/entry/108355">108355</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12810066" 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 FISH, <a href="#8" class="mim-tip-reference" title="Tanaka, N., Kaneko, K., Asao, H., Kasai, H., Endo, Y., Fujita, T., Takeshita, T., Sugamura, K. <strong>Possible involvement of a novel STAM-associated molecule 'AMSH' in intracellular signal transduction mediated by cytokines.</strong> J. Biol. Chem. 274: 19129-19135, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10383417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10383417</a>] [<a href="https://doi.org/10.1074/jbc.274.27.19129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10383417">Tanaka et al. (1999)</a> mapped the STAMBP gene to 2p13-p12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10383417" 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 10 patients from 9 families with microcephaly-capillary malformation syndrome (MICCAP; <a href="/entry/614261">614261</a>), <a href="#6" class="mim-tip-reference" title="McDonell, L. M., Mirzaa, G. M., Alcantara, D., Schwartzentruber, J., Carter, M. T., Lee, L. J., Clericuzio, C. L., Graham, J. M., Jr., Morris-Rosendahl, D. J., Polster, T., Acsadi, G., Townshend, S., and 19 others. <strong>Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.</strong> Nature Genet. 45: 556-562, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542699</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542699[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542699">McDonell et al. (2013)</a> identified biallelic mutations in the STAMBP gene (see, e.g., <a href="/entry/600247#0001">600247.0001</a>-<a href="/entry/600247#0007">600247.0007</a>). The mutation types included 6 missense variants, 2 nonsense mutations, 2 frameshift mutations, and 3 intronic mutations. The first mutations were identified by exome sequencing. Some of the patients had previously been reported by <a href="#1" class="mim-tip-reference" title="Carter, M. T., Geraghty, M. T., De La Cruz, L., Reichard, R. R., Boccuto, L., Schwartz, C. E., Clericuzio, C. L. <strong>A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.</strong> Am. J. Med. Genet. 155A: 301-306, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21271646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21271646</a>] [<a href="https://doi.org/10.1002/ajmg.a.33841" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21271646">Carter et al. (2011)</a>, <a href="#3" class="mim-tip-reference" title="Isidor, B., Barbarot, S., Beneteau, C., Le Caignec, C., David, A. <strong>Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: report of a new case and further delineation of a new syndrome. (Letter)</strong> Am. J. Med. Genet. 155A: 1458-1460, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21548128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21548128</a>] [<a href="https://doi.org/10.1002/ajmg.a.34048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21548128">Isidor et al. (2011)</a>, and <a href="#7" class="mim-tip-reference" title="Mirzaa, G. M., Paciorkowski, A. R., Smyser, C. D., Willing, M. C., Lind, A. C., Dobyns, W. B. <strong>The microcephaly-capillary malformation syndrome.</strong> Am. J. Med. Genet. 155A: 2080-2087, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21815250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21815250</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21815250[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/10.1002/ajmg.a.34118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21815250">Mirzaa et al. (2011)</a>. The phenotype was characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional features, such as dysmorphic facial features and distal limb abnormalities, were also present. Protein studies showed decreased or absent STAMBP protein in mutant cells. Cellular studies by <a href="#6" class="mim-tip-reference" title="McDonell, L. M., Mirzaa, G. M., Alcantara, D., Schwartzentruber, J., Carter, M. T., Lee, L. J., Clericuzio, C. L., Graham, J. M., Jr., Morris-Rosendahl, D. J., Polster, T., Acsadi, G., Townshend, S., and 19 others. <strong>Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.</strong> Nature Genet. 45: 556-562, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542699</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542699[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542699">McDonell et al. (2013)</a> showed that siRNA-mediated silencing of STAMBP in human medulloblastoma cells caused increased amounts of conjugated-ubiquitin aggregates; patient lymphocytes showed a similar aggregation that could be rescued by transfection with wildtype STAMBP. The abnormal cellular phenotype was associated with induction of apoptosis and increased autophagic flux. Patient cells also showed increases in the downstream RAS signaling pathway and increased phosphorylation of downstream proteins compared to controls, indicating persistent activation and insensitive active signal transduction, even under starvation conditions. <a href="#6" class="mim-tip-reference" title="McDonell, L. M., Mirzaa, G. M., Alcantara, D., Schwartzentruber, J., Carter, M. T., Lee, L. J., Clericuzio, C. L., Graham, J. M., Jr., Morris-Rosendahl, D. J., Polster, T., Acsadi, G., Townshend, S., and 19 others. <strong>Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.</strong> Nature Genet. 45: 556-562, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542699</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542699[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542699">McDonell et al. (2013)</a> hypothesized that the induction of apoptosis may be responsible for microcephaly, whereas overactivation of the RAS pathway may be responsible for the capillary malformations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21815250+23542699+21548128+21271646" 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 gene targeting, <a href="#2" class="mim-tip-reference" title="Ishii, N., Owada, Y., Yamada, M., Miura, S., Murata, K., Asao, H., Kondo, H., Sugamura, K. <strong>Loss of neurons in the hippocampus and cerebral cortex of AMSH-deficient mice.</strong> Molec. Cell. Biol. 21: 8626-8637, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11713295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11713295</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11713295[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/10.1128/MCB.21.24.8626-8637.2001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11713295">Ishii et al. (2001)</a> generated Amsh-deficient mice. These mice were indistinguishable from their littermates at birth but exhibited postnatal growth retardation and died between postnatal day 19 (P19) and P23. Histopathologic analysis of brain sections detected a significant loss of neurons and apoptotic cells in the CA1 subfield of the Amsh-deficient hippocampus. Brain atrophy developed by P16 and was accompanied by complete loss of the CA1 neurons in the hippocampus and marked atrophy of the cerebral cortex. Using in vitro primary cultures, <a href="#2" class="mim-tip-reference" title="Ishii, N., Owada, Y., Yamada, M., Miura, S., Murata, K., Asao, H., Kondo, H., Sugamura, K. <strong>Loss of neurons in the hippocampus and cerebral cortex of AMSH-deficient mice.</strong> Molec. Cell. Biol. 21: 8626-8637, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11713295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11713295</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11713295[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/10.1128/MCB.21.24.8626-8637.2001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11713295">Ishii et al. (2001)</a> observed that Amsh-deficient hippocampal neuronal cells were unable to survive in vitro, while Amsh-deficient cerebellar neurons, thymocytes, and embryonic fibroblasts survived normally. They concluded that Amsh is an essential molecule for the survival of neuronal cells in early postnatal mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11713295" 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=606247[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397509387 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509387;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397509387" 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=rs397509387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 African American sibs with microcephaly-capillary malformation syndrome (MICCAP; <a href="/entry/614261">614261</a>) reported by <a href="#7" class="mim-tip-reference" title="Mirzaa, G. M., Paciorkowski, A. R., Smyser, C. D., Willing, M. C., Lind, A. C., Dobyns, W. B. <strong>The microcephaly-capillary malformation syndrome.</strong> Am. J. Med. Genet. 155A: 2080-2087, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21815250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21815250</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21815250[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/10.1002/ajmg.a.34118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21815250">Mirzaa et al. (2011)</a>, <a href="#6" class="mim-tip-reference" title="McDonell, L. M., Mirzaa, G. M., Alcantara, D., Schwartzentruber, J., Carter, M. T., Lee, L. J., Clericuzio, C. L., Graham, J. M., Jr., Morris-Rosendahl, D. J., Polster, T., Acsadi, G., Townshend, S., and 19 others. <strong>Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.</strong> Nature Genet. 45: 556-562, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542699</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542699[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542699">McDonell et al. (2013)</a> identified compound heterozygous mutations in the STAMBP gene: a c.125A-G transition, resulting in a glu42-to-gly (E42G) substitution, and a c.532C-T transition, resulting in an arg178-to-ter (R178X; <a href="#0002">606247.0002</a>) substitution. The mutations, which were identified by exome sequencing and were not found in several large control exome databases, segregated with the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21815250+23542699" 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=RCV000043573 OR RCV002305442" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000043573, RCV002305442" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000043573...</a>
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<p>For discussion of the arg178-to-ter (R178X) mutation in the STAMBP gene that was found in compound heterozygous state in sibs with microcephaly-capillary malformation syndrome (MICCAP; <a href="/entry/614261">614261</a>) by <a href="#6" class="mim-tip-reference" title="McDonell, L. M., Mirzaa, G. M., Alcantara, D., Schwartzentruber, J., Carter, M. T., Lee, L. J., Clericuzio, C. L., Graham, J. M., Jr., Morris-Rosendahl, D. J., Polster, T., Acsadi, G., Townshend, S., and 19 others. <strong>Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.</strong> Nature Genet. 45: 556-562, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542699</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542699[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542699">McDonell et al. (2013)</a>, see <a href="#0001">606247.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23542699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs143739249 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs143739249;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/rs143739249?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=rs143739249" 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=rs143739249" 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=RCV000043574 OR RCV000426675" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000043574, RCV000426675" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000043574...</a>
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<p>In a boy of European descent with microcephaly-capillary malformation syndrome (MICCAP; <a href="/entry/614261">614261</a>) reported by <a href="#7" class="mim-tip-reference" title="Mirzaa, G. M., Paciorkowski, A. R., Smyser, C. D., Willing, M. C., Lind, A. C., Dobyns, W. B. <strong>The microcephaly-capillary malformation syndrome.</strong> Am. J. Med. Genet. 155A: 2080-2087, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21815250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21815250</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21815250[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/10.1002/ajmg.a.34118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21815250">Mirzaa et al. (2011)</a>, <a href="#6" class="mim-tip-reference" title="McDonell, L. M., Mirzaa, G. M., Alcantara, D., Schwartzentruber, J., Carter, M. T., Lee, L. J., Clericuzio, C. L., Graham, J. M., Jr., Morris-Rosendahl, D. J., Polster, T., Acsadi, G., Townshend, S., and 19 others. <strong>Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.</strong> Nature Genet. 45: 556-562, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542699</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542699[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542699">McDonell et al. (2013)</a> identified compound heterozygous mutations in the STAMBP gene: a c.112C-T transition, resulting in an arg38-to-cys (R38C) substitution, and a c.279+5G-T splice site mutation (<a href="#0004">606247.0004</a>), predicted to include an extra codon in exon 4, supporting a pathogenic effect. The mutations, which were identified by exome sequencing and were not found in several large control exome databases, segregated with the disorder. Another patient of Polynesian descent was compound heterozygous for R38C and a 1-bp deletion (c.411delC; <a href="#0007">606247.0007</a>), predicted to result in a frameshift and premature termination (Ile138SerfsTer12). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21815250+23542699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397509389 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509389;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/rs397509389?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=rs397509389" 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=rs397509389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the splice site mutation in the STAMBP gene (c.279+5G-T) that was found in compound heterozygous state in a patient with microcephaly-capillary malformation syndrome (MICCAP; <a href="/entry/614261">614261</a>) by <a href="#6" class="mim-tip-reference" title="McDonell, L. M., Mirzaa, G. M., Alcantara, D., Schwartzentruber, J., Carter, M. T., Lee, L. J., Clericuzio, C. L., Graham, J. M., Jr., Morris-Rosendahl, D. J., Polster, T., Acsadi, G., Townshend, S., and 19 others. <strong>Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.</strong> Nature Genet. 45: 556-562, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542699</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542699[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542699">McDonell et al. (2013)</a>, see <a href="#0003">606247.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23542699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397509390 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509390;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/rs397509390?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=rs397509390" 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=rs397509390" 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=RCV000043576 OR RCV000725319" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000043576, RCV000725319" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000043576...</a>
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<p>In a boy of European descent with microcephaly-capillary malformation syndrome (MICCAP; <a href="/entry/614261">614261</a>), <a href="#6" class="mim-tip-reference" title="McDonell, L. M., Mirzaa, G. M., Alcantara, D., Schwartzentruber, J., Carter, M. T., Lee, L. J., Clericuzio, C. L., Graham, J. M., Jr., Morris-Rosendahl, D. J., Polster, T., Acsadi, G., Townshend, S., and 19 others. <strong>Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.</strong> Nature Genet. 45: 556-562, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542699</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542699[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542699">McDonell et al. (2013)</a> identified a homozygous c.1270C-T transition in the STAMBP gene, resulting in an arg424-to-ter (R424X) substitution. Analysis of parental DNA showed that the homozygosity was due to maternal isodisomy of chromosome 2. An unrelated patient was compound heterozygous for the R424X mutation and a c.299T-A transversion, resulting in a phe100-to-tyr (F100Y; <a href="#0006">606247.0006</a>) substitution. Both patients had previously been reported by <a href="#1" class="mim-tip-reference" title="Carter, M. T., Geraghty, M. T., De La Cruz, L., Reichard, R. R., Boccuto, L., Schwartz, C. E., Clericuzio, C. L. <strong>A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.</strong> Am. J. Med. Genet. 155A: 301-306, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21271646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21271646</a>] [<a href="https://doi.org/10.1002/ajmg.a.33841" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21271646">Carter et al. (2011)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23542699+21271646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397514697 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514697;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/rs397514697?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=rs397514697" 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=rs397514697" 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=RCV000043577" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000043577" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000043577</a>
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<p>For discussion of the phe100-to-tyr (F100Y) mutation in the STAMBP gene that was found in compound heterozygous state in a patient with microcephaly-capillary malformation syndrome (MICCAP; <a href="/entry/614261">614261</a>) by <a href="#6" class="mim-tip-reference" title="McDonell, L. M., Mirzaa, G. M., Alcantara, D., Schwartzentruber, J., Carter, M. T., Lee, L. J., Clericuzio, C. L., Graham, J. M., Jr., Morris-Rosendahl, D. J., Polster, T., Acsadi, G., Townshend, S., and 19 others. <strong>Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.</strong> Nature Genet. 45: 556-562, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542699</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542699[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542699">McDonell et al. (2013)</a>, see <a href="#0005">606247.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23542699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs886037633 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886037633;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs886037633" 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=rs886037633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 1-bp deletion in the STAMBP gene (c.411delC) that was found in compound heterozygous state in a patient with microcephaly-capillary malformation syndrome (MICCAP; <a href="/entry/614261">614261</a>) by <a href="#6" class="mim-tip-reference" title="McDonell, L. M., Mirzaa, G. M., Alcantara, D., Schwartzentruber, J., Carter, M. T., Lee, L. J., Clericuzio, C. L., Graham, J. M., Jr., Morris-Rosendahl, D. J., Polster, T., Acsadi, G., Townshend, S., and 19 others. <strong>Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.</strong> Nature Genet. 45: 556-562, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542699</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542699[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542699">McDonell et al. (2013)</a>, see <a href="#0003">606247.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23542699" 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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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<a id="1" class="mim-anchor"></a>
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<a id="Carter2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Carter, M. T., Geraghty, M. T., De La Cruz, L., Reichard, R. R., Boccuto, L., Schwartz, C. E., Clericuzio, C. L.
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<strong>A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.</strong>
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Am. J. Med. Genet. 155A: 301-306, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21271646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21271646</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21271646" 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.33841" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Ishii2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ishii, N., Owada, Y., Yamada, M., Miura, S., Murata, K., Asao, H., Kondo, H., Sugamura, K.
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<strong>Loss of neurons in the hippocampus and cerebral cortex of AMSH-deficient mice.</strong>
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Molec. Cell. Biol. 21: 8626-8637, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11713295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11713295</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11713295[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=11713295" 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/10.1128/MCB.21.24.8626-8637.2001" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Isidor2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Isidor, B., Barbarot, S., Beneteau, C., Le Caignec, C., David, A.
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|
<strong>Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: report of a new case and further delineation of a new syndrome. (Letter)</strong>
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Am. J. Med. Genet. 155A: 1458-1460, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21548128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21548128</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21548128" 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.34048" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Kikuchi2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kikuchi, K., Ishii, N., Asao, H., Sugamura, K.
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<strong>Identification of AMSH-LP containing a Jab1/MPN domain metalloenzyme motif.</strong>
|
|
Biochem. Biophys. Res. Commun. 306: 637-643, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12810066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12810066</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12810066" 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/s0006-291x(03)01009-x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Li2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Li, H., Seth, A.
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<strong>An RNF11: Smurf2 complex mediates ubiquitination of the AMSH protein.</strong>
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Oncogene 23: 1801-1808, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755250</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14755250" 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/sj.onc.1207319" 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="McDonell2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McDonell, L. M., Mirzaa, G. M., Alcantara, D., Schwartzentruber, J., Carter, M. T., Lee, L. J., Clericuzio, C. L., Graham, J. M., Jr., Morris-Rosendahl, D. J., Polster, T., Acsadi, G., Townshend, S., and 19 others.
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<strong>Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.</strong>
|
|
Nature Genet. 45: 556-562, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542699</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542699[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=23542699" 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/ng.2602" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Mirzaa2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mirzaa, G. M., Paciorkowski, A. R., Smyser, C. D., Willing, M. C., Lind, A. C., Dobyns, W. B.
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<strong>The microcephaly-capillary malformation syndrome.</strong>
|
|
Am. J. Med. Genet. 155A: 2080-2087, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21815250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21815250</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21815250[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=21815250" 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.34118" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Tanaka1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tanaka, N., Kaneko, K., Asao, H., Kasai, H., Endo, Y., Fujita, T., Takeshita, T., Sugamura, K.
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<strong>Possible involvement of a novel STAM-associated molecule 'AMSH' in intracellular signal transduction mediated by cytokines.</strong>
|
|
J. Biol. Chem. 274: 19129-19135, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10383417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10383417</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10383417" 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.274.27.19129" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Tsang2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tsang, H. T. H., Connell, J. W., Brown, S. E., Thompson, A., Reid, E., Sanderson, C. M.
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<strong>A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex.</strong>
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Genomics 88: 333-346, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16730941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16730941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16730941" 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.ygeno.2006.04.003" 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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</div>
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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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Cassandra L. Kniffin - updated : 5/31/2013
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 2/10/2009<br>Patricia A. Hartz - updated : 10/24/2008<br>Patricia A. Hartz - updated : 3/27/2007<br>Dawn Watkins-Chow - updated : 4/17/2002
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</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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Paul J. Converse : 8/31/2001
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/05/2016
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<span class="mim-text-font">
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mcolton : 07/21/2015<br>carol : 9/10/2013<br>carol : 6/10/2013<br>carol : 6/3/2013<br>ckniffin : 5/31/2013<br>carol : 4/22/2009<br>mgross : 2/10/2009<br>alopez : 10/24/2008<br>alopez : 10/3/2008<br>terry : 10/2/2008<br>carol : 5/19/2008<br>mgross : 3/27/2007<br>mgross : 4/17/2002<br>mgross : 8/31/2001
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 606247
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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STAM-BINDING PROTEIN; STAMBP
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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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<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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ASSOCIATED MOLECULE WITH THE SH3 DOMAIN OF STAM; AMSH
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: STAMBP</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 703369003;
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</span>
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</p>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 2p13.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:73,828,961-73,873,656 </span>
|
|
</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
|
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</th>
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<th>
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Phenotype
|
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</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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2p13.1
|
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</span>
|
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</td>
|
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|
|
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<td>
|
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<span class="mim-font">
|
|
Microcephaly-capillary malformation syndrome
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
614261
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The STAMBP gene encodes a deubiquitinating (DUB) isopeptidase that has a key role in cell surface receptor-mediated endocytosis and sorting (summary by McDonell et al., 2013). </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>Signal-transducing adaptor molecule (STAM; 601899) acts downstream of interleukin-2 (IL2; 147680)-induced signaling through JAK3 (600173). It also interacts with JAK2 (147796) after granulocyte-macrophage colony-stimulating factor (GMCSF; 138960) stimulation. STAM contains an SH3 domain that is required for induction of MYC (190080) and cell growth. By Far Western screening of an activated peripheral blood leukocyte cDNA library to identify cDNAs binding to the SH3 domain of STAM, Tanaka et al. (1999) obtained a cDNA encoding AMSH. The deduced 424-amino acid protein contains 2 potential SH3-binding domains (PxxP motifs), a JAB1 (604850) subdomain homologous (JSH) region, and a putative bipartite nuclear localization signal. Northern blot analysis revealed ubiquitous expression of a 2.1-kb AMSH transcript. </p><p>Using in situ hybridization and Northern blot analysis, Ishii et al. (2001) observed that Amsh was expressed diffusely in both mantle and ventricular layers throughout the mouse brain at embryonic day 14. By postnatal day 10, Amsh expression was localized to the olfactory bulb, cerebral cortex, hippocampus, and cerebellum. </p><p>In transfected COS-7 cells, Kikuchi et al. (2003) found that fluorescence-tagged AMSH was expressed diffusely in the cytoplasm and in a punctate pattern surrounding the nuclear membrane. </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">
|
|
<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>By immunoprecipitation and immunoblot analysis, Tanaka et al. (1999) showed that the SH3 domain of STAM was required for AMSH binding at the PxxP motif at pro227 to pro231. Mutation analysis indicated that MYC induction and cell growth were eliminated in the presence of exogenous AMSH lacking the 190 C-terminal residues. Tanaka et al. (1999) concluded that the STAM-AMSH complex plays a critical role in signaling for MYC induction and cell cycle progression downstream of JAK3 and JAK2 after IL2 or GMCSF stimulation. </p><p>Using RNF11 (612598) as bait in a yeast 2-hybrid screen of a human ovary cDNA library, Li and Seth (2004) showed that human RNF11 interacted with several proteins, including AMSH. The interaction of RNF11 with AMSH was independent of the RNF11 RING finger domain and PY motif. AMSH was ubiquitinated by the E3 ubiquitin ligase SMURF2 (605532) in the presence of RNF11, and reduction in the steady-state level of AMSH required both RNF11 and SMURF2. Li and Seth (2004) concluded that RNF11 recruits AMSH to SMURF2 for ubiquitination, leading to its degradation by the 26S proteasome. </p><p>Using several protein interaction assays, Tsang et al. (2006) showed that AMSH interacted directly with the ESCRT-III components CHMP1B (606486) and CHMP3 (VPS24; 610052). The 3 proteins partially colocalized with M6PR (154540) on late endosomal membranes. </p><p>Kikuchi et al. (2003) found that both the nuclear localization signal and the MPN domain of AMSH are required for its nuclear localization. Coimmunoprecipitation analysis of transfected 293T cells showed that epitope-tagged AMSH bound STAM, STAM2 (606244), and GRB2 (108355). </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">
|
|
<strong>Mapping</strong>
|
|
</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Using FISH, Tanaka et al. (1999) mapped the STAMBP gene to 2p13-p12. </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">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>In 10 patients from 9 families with microcephaly-capillary malformation syndrome (MICCAP; 614261), McDonell et al. (2013) identified biallelic mutations in the STAMBP gene (see, e.g., 600247.0001-600247.0007). The mutation types included 6 missense variants, 2 nonsense mutations, 2 frameshift mutations, and 3 intronic mutations. The first mutations were identified by exome sequencing. Some of the patients had previously been reported by Carter et al. (2011), Isidor et al. (2011), and Mirzaa et al. (2011). The phenotype was characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional features, such as dysmorphic facial features and distal limb abnormalities, were also present. Protein studies showed decreased or absent STAMBP protein in mutant cells. Cellular studies by McDonell et al. (2013) showed that siRNA-mediated silencing of STAMBP in human medulloblastoma cells caused increased amounts of conjugated-ubiquitin aggregates; patient lymphocytes showed a similar aggregation that could be rescued by transfection with wildtype STAMBP. The abnormal cellular phenotype was associated with induction of apoptosis and increased autophagic flux. Patient cells also showed increases in the downstream RAS signaling pathway and increased phosphorylation of downstream proteins compared to controls, indicating persistent activation and insensitive active signal transduction, even under starvation conditions. McDonell et al. (2013) hypothesized that the induction of apoptosis may be responsible for microcephaly, whereas overactivation of the RAS pathway may be responsible for the capillary malformations. </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">
|
|
<strong>Animal Model</strong>
|
|
</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Using gene targeting, Ishii et al. (2001) generated Amsh-deficient mice. These mice were indistinguishable from their littermates at birth but exhibited postnatal growth retardation and died between postnatal day 19 (P19) and P23. Histopathologic analysis of brain sections detected a significant loss of neurons and apoptotic cells in the CA1 subfield of the Amsh-deficient hippocampus. Brain atrophy developed by P16 and was accompanied by complete loss of the CA1 neurons in the hippocampus and marked atrophy of the cerebral cortex. Using in vitro primary cultures, Ishii et al. (2001) observed that Amsh-deficient hippocampal neuronal cells were unable to survive in vitro, while Amsh-deficient cerebellar neurons, thymocytes, and embryonic fibroblasts survived normally. They concluded that Amsh is an essential molecule for the survival of neuronal cells in early postnatal mice. </p>
|
|
</span>
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<div>
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|
<br />
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
STAMBP, GLU42GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397509387,
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|
|
|
|
|
|
|
ClinVar: RCV000043572, RCV004719680
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 African American sibs with microcephaly-capillary malformation syndrome (MICCAP; 614261) reported by Mirzaa et al. (2011), McDonell et al. (2013) identified compound heterozygous mutations in the STAMBP gene: a c.125A-G transition, resulting in a glu42-to-gly (E42G) substitution, and a c.532C-T transition, resulting in an arg178-to-ter (R178X; 606247.0002) substitution. The mutations, which were identified by exome sequencing and were not found in several large control exome databases, segregated with the disorder. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
STAMBP, ARG178TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397509388,
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|
|
|
|
|
gnomAD: rs397509388,
|
|
|
|
|
|
ClinVar: RCV000043573, RCV002305442
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg178-to-ter (R178X) mutation in the STAMBP gene that was found in compound heterozygous state in sibs with microcephaly-capillary malformation syndrome (MICCAP; 614261) by McDonell et al. (2013), see 606247.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
STAMBP, ARG38CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs143739249,
|
|
|
|
|
|
gnomAD: rs143739249,
|
|
|
|
|
|
ClinVar: RCV000043574, RCV000426675
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy of European descent with microcephaly-capillary malformation syndrome (MICCAP; 614261) reported by Mirzaa et al. (2011), McDonell et al. (2013) identified compound heterozygous mutations in the STAMBP gene: a c.112C-T transition, resulting in an arg38-to-cys (R38C) substitution, and a c.279+5G-T splice site mutation (606247.0004), predicted to include an extra codon in exon 4, supporting a pathogenic effect. The mutations, which were identified by exome sequencing and were not found in several large control exome databases, segregated with the disorder. Another patient of Polynesian descent was compound heterozygous for R38C and a 1-bp deletion (c.411delC; 606247.0007), predicted to result in a frameshift and premature termination (Ile138SerfsTer12). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
STAMBP, IVS4DS, G-T, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397509389,
|
|
|
|
|
|
gnomAD: rs397509389,
|
|
|
|
|
|
ClinVar: RCV000043575, RCV000522284
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the STAMBP gene (c.279+5G-T) that was found in compound heterozygous state in a patient with microcephaly-capillary malformation syndrome (MICCAP; 614261) by McDonell et al. (2013), see 606247.0003. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
STAMBP, ARG424TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397509390,
|
|
|
|
|
|
gnomAD: rs397509390,
|
|
|
|
|
|
ClinVar: RCV000043576, RCV000725319
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy of European descent with microcephaly-capillary malformation syndrome (MICCAP; 614261), McDonell et al. (2013) identified a homozygous c.1270C-T transition in the STAMBP gene, resulting in an arg424-to-ter (R424X) substitution. Analysis of parental DNA showed that the homozygosity was due to maternal isodisomy of chromosome 2. An unrelated patient was compound heterozygous for the R424X mutation and a c.299T-A transversion, resulting in a phe100-to-tyr (F100Y; 606247.0006) substitution. Both patients had previously been reported by Carter et al. (2011). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
STAMBP, PHE100TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514697,
|
|
|
|
|
|
gnomAD: rs397514697,
|
|
|
|
|
|
ClinVar: RCV000043577
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the phe100-to-tyr (F100Y) mutation in the STAMBP gene that was found in compound heterozygous state in a patient with microcephaly-capillary malformation syndrome (MICCAP; 614261) by McDonell et al. (2013), see 606247.0005. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
STAMBP, 1-BP DEL, 411C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs886037633,
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|
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|
|
|
|
|
ClinVar: RCV000043578
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion in the STAMBP gene (c.411delC) that was found in compound heterozygous state in a patient with microcephaly-capillary malformation syndrome (MICCAP; 614261) by McDonell et al. (2013), see 606247.0003. </p>
|
|
</span>
|
|
</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>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Carter, M. T., Geraghty, M. T., De La Cruz, L., Reichard, R. R., Boccuto, L., Schwartz, C. E., Clericuzio, C. L.
|
|
<strong>A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.</strong>
|
|
Am. J. Med. Genet. 155A: 301-306, 2011.
|
|
|
|
|
|
[PubMed: 21271646]
|
|
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|
|
[Full Text: https://doi.org/10.1002/ajmg.a.33841]
|
|
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|
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ishii, N., Owada, Y., Yamada, M., Miura, S., Murata, K., Asao, H., Kondo, H., Sugamura, K.
|
|
<strong>Loss of neurons in the hippocampus and cerebral cortex of AMSH-deficient mice.</strong>
|
|
Molec. Cell. Biol. 21: 8626-8637, 2001.
|
|
|
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|
|
[PubMed: 11713295]
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|
|
[Full Text: https://doi.org/10.1128/MCB.21.24.8626-8637.2001]
|
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Isidor, B., Barbarot, S., Beneteau, C., Le Caignec, C., David, A.
|
|
<strong>Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: report of a new case and further delineation of a new syndrome. (Letter)</strong>
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Kikuchi, K., Ishii, N., Asao, H., Sugamura, K.
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<strong>Identification of AMSH-LP containing a Jab1/MPN domain metalloenzyme motif.</strong>
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Li, H., Seth, A.
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<strong>An RNF11: Smurf2 complex mediates ubiquitination of the AMSH protein.</strong>
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Oncogene 23: 1801-1808, 2004.
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McDonell, L. M., Mirzaa, G. M., Alcantara, D., Schwartzentruber, J., Carter, M. T., Lee, L. J., Clericuzio, C. L., Graham, J. M., Jr., Morris-Rosendahl, D. J., Polster, T., Acsadi, G., Townshend, S., and 19 others.
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<strong>Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.</strong>
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Mirzaa, G. M., Paciorkowski, A. R., Smyser, C. D., Willing, M. C., Lind, A. C., Dobyns, W. B.
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<strong>The microcephaly-capillary malformation syndrome.</strong>
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Tanaka, N., Kaneko, K., Asao, H., Kasai, H., Endo, Y., Fujita, T., Takeshita, T., Sugamura, K.
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<strong>Possible involvement of a novel STAM-associated molecule 'AMSH' in intracellular signal transduction mediated by cytokines.</strong>
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Tsang, H. T. H., Connell, J. W., Brown, S. E., Thompson, A., Reid, E., Sanderson, C. M.
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<strong>A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex.</strong>
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